Human Development

Notes compiled for Pediatrics

Human Development

(Med I, Block 2, HD) Contents

Class number Class name Type Department Instructor

HD002 Stages of Human Development L CP Dr. M. Teschuk HD007 Newborn Screening L GN Dr. Mhanni HD010 Pediatric infectious disease L PD Dr. J Embree HD011 Clinical Cytogenetics 2 L GN Dr. A Chudley HD012 Genetic Disease: History Taking T7 GN Dr. B Chodirker / Dr. J Evans HD013 Birth Defects L GN Dr. Mhanni

HD014 Teratogens L GN Dr. A Chudley HD015 Parenting issues- Challenges and L PD Dr. S Longstaffe opportunities HD016 Immunizations A PD Dr. J Embree HD017 Clinical Dyspmorphology and T7 GN Dr. A Chudley Cytogenetics HD019 Children's health status LD/T5 PD Dr. M Moffatt HD020 Pediatric infectious disease II T7 PD Dr. J Embree HD021 Infancy: Nutrition L/T5 NU D Weiten HD022 Infancy: the first year LD PD Dr. D. Moddemann HD023 Well Infant Care T5 PD Dr. M Collison HD024 Preschool Development LD PD Dr. T Wiebe HD025 Common behavioural concerns in T5 PD Dr. D. Moddemann/ childhood Dr. T Wiebe /Dr. N Bowman / Dr. S Longstaffe / Dr. A Hanlon-Dearman HD026 Learning and Behavioural Problems L PS Dr. J Perlov HD027 Speech and language development and LD PD Dr. D. Moddemann abnormalities HD028 Injury Prevention and Control T7 PD Dr. L Warda HD030 School Age Child: Age of Industriousness L CP Dr. J Bow

HD031 Learning and Behavioural Problems II LD PS Dr. J Perlov HD032 Developmental delay: Mental LD PD Dr. A Hanlon-Dearman Retardation HD033 Child in need of protection LD PD Dr. D Lindsay HD035 Well Child Care: Common childhood T5 PD . concerns HD036 Effects of Chronic Illness on Adolescent LD PD Dr. R Woodgate HD039 Developmental Disabilities: Motor LD PD Dr. G Rempel Impairment HD040 Depression and Anxiety in Children L PS Dr. W Fleisher HD041 Approach to developmental problems T5 PD Dr. D Moddemann/Dr. N Bowman/Dr. T. Wiebe HD042 Physical aspects of normal adolescent L PD Dr. M Lane development HD043 Development of personality Disorder L PS Dr. E Vicar HD045 Adolescents: Are they Healthy? L PD Dr. M Lane HD046 Adolescence: Development of an L CP Dr. M Teschuk Identity HD047 Psychological Aspects of Adolescent LD CP Dr. M Teschuk Development HD048 Adolescent Identity Tutorial T7 CP Dr. M Teschuk HD051 Adolescent Suicide I L PS Dr. R Steinberg HD052 Adolescent Risk taking and the Physician A CP Dr. M Teschuk HD053 Adolescent Health Concerns T5 PD Dr. M Lane HD055 Adolescent Suicide II T5 PS HD090 Eating disorders 2 T5 PS Dr. E Gill HD107 Substance abuse in Pregnancy: Effects A PD Dr. A Hanlon-Dearman on the fetus and child HD125 Clinical Cytogenetics 1 L GN Dr. A Chudley

HD126 Eating Disorders 1 L PS Dr. E Gill

Stages of Human Development University of Manitoba Faculty of Medicine Med 1 / HD 002 Dr. M. Teschuk Clinical Health Psychology

Objectives 1. Explain health as development rather than stasis, including the concepts of developmental crises, fixation, and regression, and give examples.

2. Name Erikson's developmental stages throughout the life span, and describe the main developmental task of each, with an example of a successful and an unsuccessful outcome of each stage.

3. Understand the concept of fixation and the phenomenon of regression as a normal psychological defense under stress.

Lecture Outline. Health is not a stable state that you achieve once and then keep forever; health consists of more or less successfully meeting the developmental challenges of each stage of life as they arise. Staying the same can be maladaptive.

The psychoanalyst Erik Erikson identified eight life stages, each characterized by a new developmental challenge or psychosocial crisis. Erikson's system is one of the few that deals with life-long development, not just child development. "Psychosocial crises" are turning points in development, at which both potential and vulnerability are greatly increased. The timetable for passing through Erikson's eight stages is variable from person to person; the order of the stages is always the same, however, since each one builds upon the previous one. Unsuccessful resolution of the developmental crisis at one stage can leave the person fixated at that stage, preoccupied with the developmental task of that stage for life, and unable to meet the next developmental challenges. Under stress, we can regress and become preoccupied with the concerns of an earlier stage of psychological development.

Stages of Human Development University of Manitoba Faculty of Medicine Med 1 / HD 002 Dr. M. Teschuk Clinical Health Psychology

Erikson's stages of development:

Stage Approximate Ages Developmental Task

1 birth - 1.5 years Basic Trust vs. Mistrust ("oral stage")

2. 1.5 - 3 years Autonomy vs. Shame & Doubt (toilet training, control)

3. 3 - 6 years Initiative vs. Guilt (conscience, stage of play)

4. 6 - 11 years Industry vs. Inferiority (school work, lessons)

4. Adolescence Identity vs. Role Confusion ("identity crisis")

5. Young adulthood Intimacy vs. Isolation (mature relationships)

6. Adulthood (30+) Generativity vs. Stagnation (recognition of mortality, mid-life crisis, concern for legacy, next generation)

7. Old age Ego Integrity vs. Despair (was life meaningful? ready to accept

death or filled with regrets?)

An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni HD007 – An Approach to Metabolic Disorders and Newborn Screening

Lecture

Required reading: The Molecular and Biochemical Basis of Genetic Disease Chapter 12, Chapter 13 Thompson and Thompson Genetics in Medicine 6th edition

Additional reading: 1. Role of dietary therapy in management of hereditary metabolic diseases. C. Prasad, L. Dalton and H. Levy. Nutrition research, Vol. 8. No.2 pages 391- 402 1998. (on reserve in library)

2. Inborn Errors of Metabolism in infancy: A guide to diagnosis. Burton B. Pediatrics Vol 102 No 6 pp 69 (full text available on the web). December 1998. 3. Chapter 7 “Biochemical Genetics: Disorders of Metabolism” Textbook of Medical Genetics Second Edition By Jorde, Carey, Bamshad and White (Pages 136-155).

4. Cadham Provincial Laboratory Brochure on neonatal screening program in Manitoba.

Learning Objectives

1. To identify the genetically determined variability in biochemical processes that may result in inborn errors of metabolism.

2. To discuss the multi-system aspects and diagnostic strategies for metabolic disorders.

3. To describe neonatal screening (criteria, advantages, pitfalls, methodologies) for inborn errors of metabolism.

4.To explain the principles of managing and treating some of the metabolic disorders e.g. Phenylketonuria.

5. To recognize the importance of metabolic investigations in event of stillbirth, early neonatal death or in a case of sudden unexplained infant death (SIDS).

An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

(ref. M.R. Seashore)

Sir Archibald Garrod described the first inherited metabolic disorders. In 1901, he described 4 disorders Albinism, Cystinuria, Pentosuria and Alkaptonuria. Along with William Bateson he also noted that these were recessively inherited disorders. He coined the term “Chemical Individuality”.

When to Consider a Metabolic Diagnosis?  Neonatal catastrophe  Biochemical disturbances  Liver disease  Neurologic disease  Myopathy or cardiomyopathy  Storage disease

-Usually in a child who appears normal at birth

The clinical presentation may vary depending on age of onset of symptoms

Neonatal Presentation of inborn errors  Poor feeding  Lethargy, unexplained seizures, coma  Failure to thrive  Vomiting  Hypotonia  Tachypnoea

 Features consistent with neonatal sepsis

Biochemical abnormalities – Metabolic acidosis (lactic acidosis) – Hyperammonemia – Hypoglycemia

Childhood/Adult Presentation  Learning disorder  Behavioral disorder 4 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

 Neurological presentation (weakness/ ataxia/focal signs)  Psychiatric disorder  Muscle weakness (myopathy)

Chronic presentation e.g. Storage Phenotype  Coarse facies  Hepatosplenomegaly  Skeletal dysplasia  Visual & hearing involvement  Neurodegenerative course

Questions for Metabolic History  Diminished exercise intolerance  Unusual severity of symptoms during illness  Unusual odors e.g., Maple Syrup odour for Maple Syrup Urine Disease (Disorder of branched chain metabolism)  Avoidance/intolerance of certain foods e.g. urea cycle disorders (avoidance of protein)  Family history of metabolic -oriented symptoms  Family history of consanguinity  SIDS (sudden infant death syndrome)

Inheritance of Metabolic Disorders -mostly autosomal recessive -few X-linked for e.g. Ornithine transcarbamylase deficiency -maternal (mitochondrial disorders)

Initial Screening Investigations (RAPID TURNAROUND TIME (few hours)  Electrolytes (Anion gap)  Blood gases  Glucose  Ammonia  Liver function tests  Uric acid  CK  Urinalysis

Metabolic Tests (SLOWER TURNAROUND TIME)  Amino acids (Plasma, urine and CSF)  Urine Organic acids  Plasma Lactate  CSF lactate  Serum Carnitine (Total and Free)  Whole blood Acyl carnitine  Urine Acylglycines  Whole blood palmitate oxidation studies

Specific Additional Diagnostic Tests  Fibroblasts for enzyme assays  DNA based testing (mutation analysis) 5 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

 Muscle biopsy for electron transport chain and molecular studies  Liver biopsy

Considerations Regarding Metabolic Autopsy  Notify pathology early  Plasma, urine, bile, vitreous samples  Skin biopsy from well perfused area  Permission for autopsy/multiple biopsies  Flash-freeze liver sample  Photograph and skeletal survey

Treatment Modalities  Dietary adjustment

substrate restriction

e.g. low phenylalanine formula in PKU branched chain amino acids in Maple syrup urine disease Galactose in Galactosemia  Replacement of deficient product e.g. Thyroxine in Goitre Biotin in Biotinidase deficiency  Vitamin supplementation (activation of dysfunctional protein)

e.g. pyridoxine (Vitamin B6) in homocystinuria Thiamine in Maple syrup urine disease  Alternative pathway

e.g. carnitine to facilitate metabolic excretion of intermediate compounds in organic acidemias

sodium benzoate and phenylacetate-urea cycle disorders  Enzyme replacement e.g. Gaucher disease (glucocerebrosidase)  Protein replacement e.g. Factor VIII replacement in Hemophilia  Hemodialysis e.g. removal of ammonia in urea cycle disorders  Organ transplantation e.g. liver transplantation in OTC deficiency (ornithine transcarbamylase deficiency)  Bone marrow transplantation, Cord cell transplant e.g. lysosomal storage disorder  Stem cell transplant  Gene therapy e.g. Adenosine deaminase deficiency

6 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

Newborn Screening “Population based attempts to identify disorders in neonates that, if undetected, would lead to mental retardation or have life-threatening consequences and where treatment is available.”e.g. Phenylketonuria (PKU)

PKU (Phenylketonuria)

A classic example of a genetic disorder in intermediary metabolism:

Phenylketonuria (PKU) can be taken as an interesting example of these basic principles. First identified in Norway, in 1934, by Asbjorn Følling, this autosomal recessive inherited inborn error of metabolism occurs in about 1/15,000 births in Canada. There is variation in clinical symptoms dependent on the amount of the phenylalanine hydroxylase enzyme available and the type of mutation. The gene for PKU is on chromosome 12. The enzyme is expressed in the liver.

Clinical Features (if untreated, it leads to):

 Severe mental retardation  Microcephaly  Seizures  Eczema  Mousy odour  Psychiatric abnormalities

Pterin cofactor deficiency: About 1% of PKU patients have pterin cofactor deficiency. This is a more severe phenotype and the dietary treatment is not successful. The patients can have severe neurological involvement. Neurotransmitters are used for therapy.

Maternal PKU syndrome

Children born to mothers with PKU with poor control have

. Mental retardation . Microcephaly . Facial dysmorphic features like fetal alcohol syndrome . Heart defects

Thus vast majority of females with hyperphenylalaninemia/PKU need to be on some form of lifelong dietary restriction and the phenylalanine levels have to be closely monitored during pregnancy. The ideal level for phenylalanine should be<360 umol/L during pregnancy.

7 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

Biochemical Pathway

(Phenylketonuria, Albinism, Alkaptonuria, Tyrosinemia)

Phenylalanine

Phenylalanine hydroxylase PKU

Tyrosine

T aminotransferase

Dopamine

Oculocutaneo 4 hydroxyphenylpyruvate us albinism Tyrosinase

MELANIN 4HPPA oxidase

Homogentisic acid

Homogentisic Oxidase Alkaptonuria

Maleylacetoacetate

Isomerase

Fumarylacetoacetate

Tyrosinemias

Fumarate +acetoacetate

8 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

The defect in phenylalanine metabolism leads to accumulation of phenylalanine and its metabolic by-products in the blood and urine of affected individuals; deficiency of tyrosine, the normal product of the pathway also results. Abnormal brain myelination is seen, which may be related to the mental retardation and seizures.

Treatment

The treatment of PKU is dietary. Much research has been conducted over the years and experts agree that a PKU patient who adheres to a strict low PHE (phenylalanine) diet for life should develop normally. The phenylalanine level should ideally be < 360 micromol/L. This diet includes

 a special low PHENYLALANINE formula  low protein foods,  fruits and most vegetables.

Food items to be avoided include

 meat, fish, poultry, dairy products, bakery goods and eggs because they contain high levels of PHE. While adherence to this diet is critical for normal developmental growth, it is very challenging for the patient and parents for a number of reasons:

 The low PHE formula requires specific daily intake and is important.  Blood tests are necessary to monitor blood levels of PHE.  Costs of purchasing low protein foods are significant  As PKU children grow older, peer pressure to fit in and not be different increases, and children face emotional challenges with their special diet and condition.  Constant calculating of PHE levels in foods is challenging and can be tedious. Compliance with the synthetic diet is very difficult and new treatment modalities are being researched.

Criteria for newborn screening

 How common is the disorder?  Significant morbidity/mortality in patients  Readily available effective treatment  Availability of easy, accurate, low cost test  Few false positives and no false negatives  Testing performed in centralized laboratory to facilitate Quality control (QC) and data control  Follow up facilities need to be in place

Specimens  Filter paper-Few drops of blood from heel of infant  Can be sent to central testing lab facility by mail (Cadham Provincial Laboratory)  Every newborn prior to nursery discharge or born at home should have this testing  All circles on the filter paper card should be fully saturated with blood

Specific issues  Early discharge: Babies discharged before 24 hours of age should be re-sampled with in 7 days of birth  Informed consent: At present no signed informed consent is obtained. No report is issued regarding newborn screening results but this will likely change in the near future.

9 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

Condition Present Condition absent

Positive Test A B (true positive) (false positive) Negative Test C D (false negative) (true negative)

Sensitivity = proportion of persons with the condition that test positive=A/A+C

Specificity = proportion of persons without the condition that test negative=D/B+D

Positive predictive value = proportion of persons “testing positive” who have the condition= A/A+B

Negative predictive value = proportion of persons “testing negative” who do not have the condition= D/C+D

Reliability = magnitude of variation between test results=coefficient of variation

New Tests/New Technologies MS/MS (Tandem Mass Spectrometry) (Not yet introduced in Manitoba, hopefully will be available soon.  Organic acidurias  Fatty acid oxidation defects  Aminoacidopathies Tandem mass spectrometry is making a transition from the research laboratory to clinical applications. The advantages lie in its ability to perform a large number of simultaneous measurements on a single specimen. All mass spectrometry is based on the generation of gaseous ions from analyte molecules, the subsequent separation of these ions according to their mass-to charge (m/z) ratio and finally the detection of these ions.

Neonatal Screening in Manitoba (Appendix 1)  Since 1965  Hyperphenylalaninemias  Galactosemia  Biotinidase deficiency  Congenital adrenal hyperplasia  Congenital hypothyroidism  Duchenne muscular dystrophy (males)

A committee consisting of a team of consultants meets regularly to discuss the abnormal results, policy measures. Abnormal screening results are referred to the appropriate consultant (Peditrician, Endocrinolgy consultant and Metabolic consultants) after repeat sample analysis is performed.

10 An Approach to Metabolic Disorders and Newborn Screening University of Manitoba Faculty of Medicine Med I/ HD007 Dr. A. Mhanni

Targetted Newborn Screening (DNA Based) Looking for common homozygous mutation in a genetic isolate (community) where the carrier frequency of the mutation is very high and thus there is an increased chance of having an affected child. Following disorders are being screened for in Manitoba in the unique genetic isolates because the possibility that presymptomatic intervention will be beneficial.

Glutaric Acidemia Type 1 (Island Lake) is a disorder of organic acidemia presenting with macrocephaly, dystonia, following an acute illness around 6 months of age with profound disabilities. This program is ongoing for last 3 years or more. The preliminary results GA1 Screening Results- May 21,1998 - Jan 31, 2001  Total specimens 1033  #males 530  #females 502  Affected males 1  Affected females 3 (+1 not screened)  Carrier frequency 1:17.2

GA1 Screening Followup  1 not screened -acute dystonic presentation with severe sequelae at 5 months  First 3 identified on screening and treated presymptomatically developed acute dystonic encephalopathy between 4-7 months of age  1 subsequently died suddenly at home at 18 months  4th child more aggressively treated with gastrostomy tube, alpha-tocopherol (radical scavenging) & topiramate (blocks non-NMDA receptors and GABA transaminase inhibitor) however she too developed dystonia, following acute viral illness around 8 months of age.

GA1 Screening- Future  Early experience has had limited success  Current treatment strategies may be insufficient  Many factors operating-type of mutation;?prenatal onset ; social factors; ? other genetic modifiers; narrow window of particular striatal vulnerability

Hepatic carnitine palmitoyl transferase 1 deficiency (Hutterites) A disorder of the fatty acid oxidation pathway where there is problem of utilization of long chain fatty acids. The disorder presents with hypoglycemia, liver dysfunction similar to Reyes syndrome. Easily treated with avoidance of prolonged fasting and use of medium chain based triglyceride diet. Preliminary analysis results over 1 year and 9 months  Total 441 infants  Carriers 36 carriers (1 in 16.9)  1 affected The follow up indicates that this disorder has a good prognosis once the diagnosis is made in the newborn period.

Pediatric Infectious Disease I University of Manitoba Faculty of Medicine Med I/HD010 Dr. J. Embree 2007

Objectives: 1. List the factors which enhance infections in infancy, childhood and adolescence. 2. List the organisms which are more common pathologens in infancy, children and adolescence.

Notes: What is different about infectious diseases in children compared with adults?

I: AGE/MATURATION Newborn infants: Perinatal Infections - Congenital Infections (occur during pregnancy) - Early Onset Sepsis (present < 7 days of age) - Late Onset Sepsis (occurs 7 days  3 months)

↓ immunological function

↓drug detoxification

Infants/Toddlers (<2 years of age):

 1st exposure ( in day care→↓ effect of school entry)

  T-cell function

Adolescents/Youth  High risk takers

 Denial & poor compliance

II: SIZE ↑ innoculum/mass; High levels of bacteremia  small amount of blood needed for cultures (1-2 ml)

Antimicrobial antibiotics are dosed by weight or body mass (except older or heavy children)

III: UNDERLYING DISEASES Generally none  few

IV: PROGNOSIS Quick recovery @ appropriate diagnosis and treatment

Mistakes are devastating

HD011 – Clinical Cytogenetics II Assigned Study

Reference

Required Reading

Thompson and Thompson Genetics in Medicine. 2001. 6th Edition. Chapters 9 and 10.

Objectives

After the following session, the student will be able to:

1) Define cytogenetic technology (banding and FISH) and nomenclature (Chapter 9, pp.135-140);

2) List three major autosome and four major sex chromosomes of each of the aneuploidy syndromes (abnormality of chromosome number) and outline the principal cytogenetic and clinical features of each (Chapter 10, pp.157-177);

3) List six types of abnormalities of chromosome structure and define their clinical significance;

4) Define microdeletion and contiguous gene syndromes, and uniparental disomy and state application of FISH in each;

5) State the frequency of chromosome abnormalities at conception and miscarriage. List five clinical indications for chromosome analysis and

6) Explain the role of chromosome rearrangements in malignancies and the chromosome instability syndromes.

13 Learning Objectives: Following this lecture the student will:

• Define nomenclature related to cytogenetics • List 3 major autosomal and 4 sex chromosomal disorder • List at least 2 important features of each Cytogenetics • Name 6 types of chromosomal structural anomalies • Define microdeletion and uniparental disomy Albert E. Chudley, M.D. • Know the frequency of chromosome abnormalities • List the indications for doing chromosomal analysis (With thanks to Bridget Fernandez, M.D.) • List 2 methods of molecular cytogenetics

Karyotyping: Metaphase Spread

• Culture for harvesting requires living cells • Easiest source - wbc (T-cells) • Venous blood in green topped tube (heparin) – buffy coat – incubate in culture medium (72 hr; phytohemaglutin) – harvest (colchicine, hypotonic KCL) – make slides – stain (trypsin & Giemsa)

3 4

Chromosome Morphology Normal Male Karyotype (46,XY)

• 23 pairs of chromosomes (22 autosomes) • G bands (light and dark) • Geisma stain • p and q arms; centromere and telomere • Normal karyotypes: 46,XX and 46,XY • Prophase & metaphase chromosomes consist of 2 identical sister chromatids (held together by the centromere) • Each germ cell contains only 23 chromosomes (1 member of each pair)

5 6

1 ISCN nomenclature Ideogram of Chromosome 3

• Regions, Bands & Sub-bands

• Numbered consecutively from centromere to telomere • Centromere is 10 (either p10 or q10)

• 1p31.1: centromere – chromosome 1 – short arm – region 3 , band 1, sub-band 1

7 8

Acrocentric Chromosomes Chromosome groups: A - G

• Original solid staining A B – Allowed only for classification into 7 groups – A - G

• 5 human acrocentric chromosomes – small masses of chromatin attached to p arm as narrow stalk C (satellites) – D group: 13, 14, 15 E – G group: 21, 22 D F G XX m

9 10

Aneuploidy:- Chromosome Abnormalities - Aneuploidy: Trisomy 13 Patau syndrome

• N = 23 chromosomes – Euploidy: normal number of chromosomes per cell (ie 46 for human) – Diploid (2n) – Triploid (3n) – Tetraploid (4n)

• Aneuploidy – A chromosome number that’s not an exact multiple of n • (23 chromosomes) – Due to meiotic non-dysjunction – E.g. Trisomy (T13, 18, 21); Monosomy (Turner syndrome)

11 12

2 Aneuploidy: Trisomy 13 Aneuploidy: Trisomy 13

• Intrauterine growth retardation (IUGR) • Major anomalies include microcephaly, cleft lip and palate, congenital heart disease, omphalocoele, renal anomalies, polydactyly hands and feet • Brain anomalies, especially holoprosencephaly common • Most die in the first few days or weeks after birth

13 14

Aneuploidy – Aneuploidy - Trisomy 18 Trisomy 18 Edward syndrome

15 16

Aneuploidy - Trisomy 18 Trisomy 21 47, XX, +21 Down syndrome • Angelic face common • IUGR • Cardiac anomalies >90% • Joint contractures, radial aplasia common • Rocker-bottom feet (vertical tali) • Over 90% die in first year, most in first few days of life

17 18

3 Down Syndrome: Down Syndrome:

19 20

Aneuploidy - Down Syndrome ( (Trisomy 21)

• Most common human malformation syndrome • 1 in 660 newborns – Mild to moderate developmental delay – Hypotonia – Brachycephaly (disproportionate shortness of the head), wide fontanels (soft spot in skulls), upslanting pf’s – Brushfield spots of iris (speckled); adult cataracts (50%) – Clinodactyly (abnormal finger positioning) (60%); single palmar crease (40%) – CHD in 40% (AV canal) – GI abnormalities in 12% (duodenal atresia, imperforate anus) – Thyroid disease common – Early age onset Alzheimer disease

21 22

Down Syndrome Etiology of Down Syndrome

HEALTH CARE GUIDELINES FOR INDIVIDUALS • 95% - Trisomy 21 – Don’t need to check the parents’ karyotypes WITH DOWN SYNDROME (Down Syndrome Preventive Medical Check List) is published in • 4% - Unbalanced Translocation (must Down Syndrome Quarterly (Volume 4, Number check parental karyotypes): – 3% de novo 3, September, 1999) – 1% familial (a parent is a balanced carrier) • Most frequently due to rob 14q21 • Adjacent segregation http://www.downsyn.com/guidelines/reprint.html • 1% Mosaicism (don’t generally check for that) – e.g. 46, XY [20 cells]; 47,XY+ 21 [30 cells]

23 24

4 Translocation Down Syndrome: 46, XY, der(14;21) (q10;q10), +21 Translocation DS

Normal gametes 25 Abnormal gametes26

DS - Genetic Counselling:

• Trisomy 21: – Recurrence risk 1% (gonadal mosaicism) – Eligible for invasive PND (amniocentesis)

• DS due to familial Robertsonian translocation – Balanced Rob translocation: 1 in 1000 (45 chromosomes) – 45, XX rob (13;21) (q10;q10) – Empiric recurrence risk for familial rob carriers: • Female carrier of t (D;21) - 13% • Male carrier of t(D;21) - 2.6% • Male and female carriers of rob (13;14) - 1-2%

27 28 http://www.genzymegenetics.com/genetics/patientinfo/english/amniocentesis.htm#should

Choices in prenatal screening/ diagnosis of DS Amniocentesis

• Maternal Serum Screen • 15-18 weeks –Triple Test, 5 marker screen • Results in 2 -3 • Ultrasound, soft signs, nuchal weeks translucency, etc. • 1/200 procedure related • Amniocentesis pregnancy loss rate

29 30

5 Klinefelter syndrome Turner Syndrome 47,XXY

• Due to loss of genes on Xp • 1in 1000 males – Most are 45, X • tall – 46, X i(X)(q10) • mild testosterone • Isochromosome of q deficient, small testes – Short stature – streak ovaries • infertility – webbed neck • usually normal IQ, risk – lymphedema of learning problems – renal and cardiovascular anomalies and some mild MR – learning deficits – Sexual immaturity

31 32

Klinefelter syndrome 47,XXY Triplo X syndrome

• 1 in 1000 females • generally tall stature, head size relatively small for height • mild learning difficulties • early menopause • risk of schizophrenia

33 34

Triploidy

• Triploidy - 69 chromosomes – Full – Mosaic (2n/3n) • 2 types: – Digynic - extra set of chromosomes is maternal (2n egg) – Diandric - extra set is paternal (2n sperm or 2 normal sperm)

• Dygynic triploids: – IUGR with head-sparing; small non-molar placenta – May be born live • Diandric triploids – often molar pregnancy or fetus that aborts • Cysts in placenta 47,XXX

35 36

6 Triploid Karyotype (69, XXY) Clinical Features of Triploid

• IUGR (70%) • Syndactyly (60%) • abnorm creases, talipes, • small chin (65%) • large fontanelles. (60%) • Low set ears • horseshoe kidney • Heart defect • Asymmetry

37 38

Frequency

• Triploidy – 1% of all conceptions – 20% of karyotyped Spontaneous Abortions – 1/5000 -1/30,000 in second trimester – lower at birth • Molar pregnancies – Complete Moles 1/762 (1/337 Filipino, 1/1561 Caucasian) – Partial Moles 1/346 – CM + PM = 1/238 (Hawaii) • 1/1500 (USA) ? 1/2 PM –  Asia, Japan, Indonesia, Iran

39 40

Partial mole in a case of triploidy. Note the scattered grape-like masses with intervening normal-appearing placental tissue In partial moles, some villi (as seen here at the lower left) appear normal, whereas others are swollen. There is minimal • Small for gestational age fetus trophoblastic proliferation • large and hydropic placenta. 41 42

7 Chromosomal Abnormalities: Balanced Structural Rearrangements Structural Rearrangements Inversion:

• Due to chromosome breakage and reunion in an abnormal • Inversion: way – Chromosome undergoes 2 breaks – Segment between the breaks is inverted • 2 types: • Either: – Paracentric • 2 breaks on one side of centromere; arm ratio unchanged – Balanced (usually normal phenotype) • unbalanced offspring (recombinants) usually not viable • Inversion, Reciprocal translocation, Robertsonian translocation (acentric or dicentric) – Pericentric • one break in each arm; often arm ratio changed – Unbalanced (abnormal phenotype) • recombinants have duplications and deficiencies of ch segments • Deletion, Duplication, Ring, Isochromosome • risk of carrier having viable recombinant: 5-10% • 46, XY, inv(3) (q21q26)

43 44

Inversions Allderdice syndrome

• Pericentric inversion of chromosome 3 [inv (3) (p25q21)] • carriers of inv(3): – healthy (one normal 3; one inversion 3) – have 40% risk of abnormal offspring (23/55 pregnancies) – unbalanced offspring have one recombinant chromosome 3 • duplication of segment distal to 3q21 • deficiency of segment distal to 3p25

45 46

Balanced Structural Rearrangements - Balanced Reciprocal Translocation: Translocations 46,XY, t(7;15) (p22;q22)

• Reciprocal translocation: – Breakage of non-homologous chromosomes – Reciprocal exchange of broken-off segments – 46, XX t (3;11) (q13;p14)

• Robertsonian translocation: – 2 acrocentrics fuse near centromere – Loss of short arms – Still balanced because multiple copies of rRNA genes – 45, XX der (14;21) (q10;q10)

47 48

8 Balanced Robertsonian Translocation: Unbalanced Structural Rearrangements - 45,XY der (14;21) (q10;q10) Deletion & Duplication:

• Deletion: – Loss of a chromosome segment (5p-) – Terminal (ie at end of chromosome) or interstitial (in middle of chromosome) – Must be at least 5 Mb to be seen cytogenetically – 46, XX del (5p) (p15)

• Duplication – 46, XY dup (1) (q22q25)

49 50

Unbalanced Rearrangements - Deletions Cri du Chat (5p-)

51 http://www.criduchat.asn.au/criduchat/what.htm#Characteristics2 52

Deletion: Cri du Chat 46, XY del (5) (p14) • 1:25,000 live births • 80% are caused by a spontaneous deletion in one of the child's number 5 chromosomes • Microcephaly, round face at birth, kitten- like mewing cry in infancy, wide eyes, small chin,broad nasal bridge • Mental handicap moderate to severe

53 54

9 Unbalanced Structural Rearrangements: Distribution of chromosome abnormalities in 1st Ring and Isochromosome trimester abortuses vs. live births

• Ring chromosome: – Chromosome undergoes 2 breaks – Broken ends reunite in a ring – 46, XX, r (7) (p22q36)

• Isochromosome: – One arm missing; other arm duplicated – Breakpoints are assigned to the centromere – 45, X, i(X) (q10) = isochromosome for Xq

55 56

59 60

10 Genetic Disease: History Taking HD012 HD012 - GENETIC DISEASE: HISTORY TAKING AND DIAGNOSIS Tutorial

Pedigrees to be handed out at tutorial

Objectives: After the tutorial, the student should be able to:

1. Take a family history and draw an appropriate pedigree. 2. Outline the ways that a genetic disease has an impact on individuals and families.

This tutorial is designed to give you an opportunity to both take a genetic family history and to be a genetic 'informant'.

You are to divide into groups of two. Initially one person will act as the patient and the other will act as the clinician. The patients will be given a family tree and should pretend they are the women identified as the proband with an arrow. The clinician will then ask questions and with the information provided by the patient draw the pedigree. After 20 minutes, a new pedigree will be provided and the patient and clinician will switch roles.

For the purpose of this tutorial, please observe the following rules.

1) The clinician should only ask specific questions and not general questions like “tell my about your family”. In real life that would be a very good question, but it would defeat the purpose of the tutorial 2) The patient should only answer the questions and not provide additional information. 3) Information not included on the supplied pedigree can be assumed to be normal and the patient can make up the answers as needed. 4) The pedigree should be drawn as per the sample provided 5) Dx means “diagnosed at”

NB: THESE ARE MODIFIED FROM REAL PEDIGREES OF FAMILIES SEEN IN GENETICS. DO NOT DISCUSS THEM OUTSIDE OF THE TUTORIAL SESSION.

Useful References:

McKusick, V. Mendelian Inheritance in Man. Johns Hopkins. (Also on the internet, OMIM,Online Mendelian Inheritance In Man.) Omim internet address: World Wide Web URL:http://www.ncbi.nlm.nih.gov/Omim/

Jorde, Carey and White, Medical Genetics, 1997 revision. Mosby Yearbook, Toronto.

Bennett, R. et al.: Recommendations for standardized human pedigree nomenclature. Am J Hum Genet (1995), 56(3):745- 752.

14 Genetic Disease: History Taking HD012 POINTS TO CONSIDER FOR TAKING A FAMILY HISTORY

A thorough, accurate family history is an indispensable part of a medical evaluation. At a minimum the following items should be included:

1. The gender of each individual and their relationship to one another should be indicated using standard pedigree symbols.

2. The family history should include at least all first-degree relatives (parents, siblings, and offspring) of the proband. Often it is desirable to include additional relatives. For example, male relatives on the mother's side of the family will be especially important when considering an X-linked recessive disorder.

3. Record the age of each individual. Record whether the individual is affected with the disease in question, and inquire about diseases that may be related to the disease in question (e.g., ovarian cancer in a family being seen for familial breast cancer).

4. Be certain to record all known miscarriages and stillbirths.

5. If possible, record the ethnic origin of the family. This is important because many diseases vary considerably in prevalence among different ethnic groups.

6. Inquire about consanguinity. Although relatively rare in most Western populations, consanguinity is common in many of the world's populations, and immigrant populations will often maintain relatively high rates of consanguinity.

7. Family histories change. Family members develop newly diagnosed diseases, and additional children are born. These changes can affect diagnosis and risk estimation, so be certain to keep the family history current.

15 Genetic Disease: History Taking HD012

Affected condition 1

Affected condition 1 and 2

Male Female

Male Sex Unknown adopted adopted Deceased into family out

Monozygotic twin Dyzygotic twin Twin unknown zygosity <- glitch in computer program, ignore

Spontaneous Therapeutic P Abortion Abortion Pregnancy

STANDARD PEDIGREE SYMBOLS

16 Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 1 2007-2008

HD013 – Birth Defects (Congenital Anomalies) Lecture

Objectives This lecture serves as an introduction to birth defects and syndromology and gives an outline of a logical approach to a patient with multiple congenital anomalies.

After this lecture the student will be able to:

1. Estimate the frequency and relative impact of birth defects on health 2. Define standard terminology and nosology of birth defects. 3. List 2 differences between major and minor anomalies. 4. Integrate physical findings and history towards the recognition of a genetic syndrome.

Required Reading

Thompson and Thompson. Genetics in Medicine. Nussbaum, McInnes Willard, 6th Edition, 2001. Chapter 17.

Additional Reading

1. Graham JC. Smith's Recognizable Patterns of Human Deformation. 2nd ed., W.B. Saunders, Toronto, 1988.

2. Jones K. Smith's Recognizable Patterns of Human Malformation. 4th ed., W.B. Saunders Co. Philadelphia, 1988.

BIRTH DEFECTS Introduction Between 2 and 3 percent of newborns have an identifiable major anomaly and 1% has multiple congenital anomalies (MCA). Birth defects account for 21% of total infant mortality (Fig. 1) and rank fifth for estimated years of potential life lost (Table 1). Children with MCA account for significant morbidity and hospitalizations. With the above in mind, it is important that physicians develop a sound understanding of causation if reduction in morbidity, mortality and economic loss is to be achieved in this group of children. Understanding terminology, mechanisms and etiology of MCA will aid in achieving these goals and will provide a basis for informed genetic counselling to involved families.

Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 2 2007-2008

Figure 1 Increasing importance of congenital anomalies relative to continuous decline in overall infant mortality.

Table I. Causes of death in the USA in 1984 ranked by estimated years of potential life lost before age 65 and by deaths per 100,000 population [from Center for Disease Control, Morbid Mortal Wkly Rep 35, 457 (1986)].

Cause of Death Years of Potential Deaths per life lost (rank) 100,000 (rank)

All Causes (total) 11,761,000 866.1 Unintentional injuries 2,308,000 (1) 40.1 (4) Malignant neoplasms 1,803,000 (2) 191.6 (2) Heart Diseases 1,563,000 (3) 324.4 (1) Suicide, homicide 1,247,000 (4) 20.6 (7) Congenital Anomalies 684,00 (5) 5.6 (10) Prematurity 470,000 (6) 3.5 (11) Sudden Infant Death Syndrome 314,000 (7) 2.4 (12) Cerebrovascular Disease 266,000 (8) 65.6 (3) Chronic Liver Diseases 233,000 (9) 11.3 (9) Pneumonia and Influenza 163,000 (10) 25.0 (6) Chronic Pulmonary Diseases 123,000 (1) 29.8 (5) Diabetes Mellitus 119,000 (12) 15.6 (8)

Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 3 2007-2008

As illustrated in Fig. 2, congenital anomalies can be classified according to etiology. At least 50% of children with birth defects have an unknown cause.

Etiology of Congenital Malformations in Man

FIGURE 2

In general, birth defects can be considered major (require surgical intervention and/or lead to functional disability), or minor (a variation from normal with no associated functional disability). However, the presence of multiple minor anomalies may suggest the presence of underlying major anomaly. Approximately 14% of newborns have 1 minor anomaly, 5% have 2 or more minor anomalies. Table II lists examples of major and minor anomalies.

Table II

Examples of Major Anomalies Examples of Minor Anomalies

Atresias (esophageal, anal, etc.) Bifid uvula Cleft lip  palate Brushfield spots Congenital heart disease Clinodactyly Craniosynostosis Coloboma Encephalocoele Ear tag or pit Hydrocephalus Epicanthal folds Limb deficiencies Hemangioma Meningomyelocoele Mongoloid slant of eyes Omphalocoele Single umbilical artery Syndactyly

Concepts and Terminology Disturbances or errors in morphogenesis (dysmorphogenesis) will lead to major or minor anomalies. Below are terms and definitions used by "dysmorphologists" that are useful in classifying birth defects. Clinical examples and illustrations are provided.

A. Individual alterations of structure or form i) Malformation: is a morphologic defect of an organ, part of an organ, or a larger region of the body resulting from an intrinsically abnormal developmental process. "Intrinsic" implies that the developmental potential of the organ - Its anlage - is abnormal from the beginning (Fig. 3).

Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 4 2007-2008

FIGURE 3

Most malformations are field defects. A morphogenetic field is a region or a part of an embryo which responds as a coordinated unit to embryonic interaction and results in complex or multiple anatomic structure. Examples of malformations: Cleft lip and palate Spina Bifida (Meningomyelocoele) ii) Disruption: is a morphologic defect of an organ, part of an organ, or a larger region of the body resulting from the extrinsic breakdown of, or an interference with, an originally normal developmental process.

Extrinsic factors, such as infections, teratogens or trauma interference with normal development, which thereafter proceeds abnormally (Fig. 4).

FIGURE 4

A disruption is not inherited, but genetic factors can lead to host susceptibility which predisposes to development of a disruption. Examples of disruptions: Fetal alcohol syndrome Amniotic band disruption complex iii) Deformation: is an abnormal form, shape or position of part of the body caused by mechanical forces. The use of this term is restricted to anomalies of form considered a normal response of the affected tissue to unusual mechanical forces (Fig. 5).

FIGURE 5

Examples of deformation: Talipes equinovarus (club foot) secondary to intrauterine positioning iv) Dysplasia: is an abnormal organization of cells into tissue(s) and the morphologic result(s). Thus, it involves the process of histogenesis. Dysplastic lesions are usually not confined to single organs. In the heritable disorders of connective tissue, for example, the basic defect involves numerous anatomic sites (Fig. 6).

FIGURE 6

Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 5 2007-2008

Examples of dysplasia: Osteogenesis imperfecta

B. Patterns of Morphologic Defects Below are terms which reflect our understanding or causation and genesis of pattern defects. i) a) Development field defect: is a pattern of anomalies derived from the disturbance of a single developmental field. b) Field: is that part of an embryo "that reacts as a temporally and spatially coordinated and epimorphically hierarchial unit to normal localized forces of organization and differentiation". These "forces" may be mediated by cell adhesion molecules. c) Little is known about developmental field defects in man. However, numerous conditions and birth defects in man suggest this concept is valid in human embryogenesis. Many different insults, be they gene mutation, chromosome deletion or duplication, or teratogenic exposures frequently lead to a recurring combination of organ malformations suggesting a "field" which responds predictably to non-specific and diverse insults.

Examples PFD: Radial ray and renal/cardiac anomalies Holoprosencephaly and midfacial anomalies

ii) Sequence: is a pattern of multiple anomalies (malformations and deformations) derived from a single known or presumed prior anomaly or mechanical factor.

FIGURE 7

Examples of sequences: Oligohydramnios sequence (Potter sequence) Pierre-Robin sequence Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 6 2007-2008

FIGURE 8

Pathways leading to defects of palatal closure as viewed from above the palate during the normal period of palatal closure. On the left mandibular hypoplasia results in a posteriorly displaced tongue which is partially interposed between the closing lateral palatine shelves. This mechanically prevents closure and posterior growth of the soft palate, producing a U-shaped defect. This is in contrast to the V-shaped defect which results from primary defects of palatal closure.

Note: The single known or presumed prior anomaly in both sequences previously illustrated may be due to numerous different genetic, teratogenic or mechanical etiologies. iii) Syndrome: is a pattern of multiple anomalies thought to be pathogenetically related and not known to represent a sequence or a polytopic field defect. The term syndrome thus implies knowledge of a single cause. Examples of syndromes: Down syndrome (trisomy 21) Marfan syndrome (single gene abnormality) Fetal alcohol syndrome (teratogenically induced) Smith Lemli Opitz syndrome (autosomal recessively inherited disorder; cholesterol deficiency due to 7 dehydro-cholesterol reductase gene mutation) iv) Association: is a non-random occurrence in 2 or more individuals of multiple anomalies not known to represent a polytopic field defect, sequence or syndrome. The term refers to statistically - not pathogenetically or causally - related anomalies Examples of Associations: VACTERL association CHARGE association V = vertebral C = coloboma A = anal atresia H = heart C = cardiac A = atresia of choanae T - E = T-E fistula R = renal R = renal - radial ray G = genital L = limb E = ear

These terms will likely evolve and should not be considered all inclusive or definitive. Revisions will be necessary as knowledge of the molecular basis of altered prenatal development and other causes are advanced. Birth Defects University of Manitoba Faculty of Medicine MED I/HD013 Dr. A. Mhanni Page 7 2007-2008

The approach to the patient with a syndrome - Hundreds of syndromes have been described and one cannot remember them all. Logical approach is to narrow the possibilities using the least expensive and least invasive techniques. Often start by consulting textbooks, dysmorphology colleagues and computer programmes. If one can identify probable or possible syndromes in this way then a rationale work up of the patient can be planned.

In all, cases need a good history including - pedigree analysis - parental ages - consanguinity - fetal wastage - maternal exposure to teratogens

Then need physical examinations detailing major and minor anomalies and growth parameters.

Using the history and physical one should be able to characterize the syndrome as prenatal or perinatal in onset, and as a single anomaly or a true multiple anomaly syndrome. Medical geneticists are trained specialists who often are involved in the assessment, investigation and counselling of families in which children are affected with multiple congenital anomalies.

Developmental Biology

Molecular diagnosis is now becoming common place in defining the etiology of children with multiple congenital anomalies. Please review Chapter 17 which explains “Genetic Aspects of Development”. Teratogens University of Manitoba Faculty of Medicine Med I/ HD014 Dr. A. Chudley

HD014 – Teratogens Lecture Goal To alert the medical student to the range of toxic agents that can alter normal human embryonic and fetal development.

References

Required Reading 1 Koren, G. et al. Drugs in Pregnancy (Review). N Eng J Med. 338: 1128 – 37, 1998. This review presents a brief historical perspective of human teratology, the story of Bendectin® and description of the prototypic “litigen” (a drug that stimulates litigenous activities among lawyers), trends in preventing exposures to teratogens, the process in establishing risk or safety of drugs in pregnancy, FDA classifications of teratogenicity, and a list of drugs that are considered to be safe in pregnancy. 2. Poliska, JE, Friedman, JM. Medical Genetics: 1. Clinical teratology in the age of genomics. CMAJ 2002; 167(3), 265-73. This is an excellent up-to-date review of the topic.

Additional Reading 3. Persaud T.V.N, Chudley, A.E., Skalko, R.G. Basic Concepts in Teratology, Alan R. Liss, Inc., New York, 1985.

Learning Objectives Following this lecture the medical student will be able to:

1. List at least 4 general principles of teratogenesis. 2. Recognize at least 6 teratogenic agents and list 3 features for each of the teratogenic syndromes. 3. Appreciate the relative risk of prescription drugs and issues concerning counselling patients, (pre pregnancy and during pregnancy), who require the medication for their own health.

A teratogen can be defined as any agent (chemical, drug, infection, radiation), which leads to birth defects. The term is derived from the Greek word teratos meaning monster (teratogen = monster causing). Presently, less than 10% of all birth defects are known to be due to major environmental influences. There are 5 million chemicals to which our population has significant exposure. Only 1600 of these have been tested in animals for teratogenicity and about half are teratogenic. Of the 30 teratogenic agents in humans, 20 are chemicals or drugs. Testing for teratogenicity in humans is not possible, so that teratologists can only rely on epidemiologic studies and anecdotal case reports. Extension of animal teratogens to man has proven to be unreliable. It is therefore possible that many more agents may be teratogenic but presently have not been recognized.

Some general principles about teratogenesis a) Susceptibility to teratogens depends on the genotype of the conceptus and mother, and the manner in which these interact with environmental factors. b) Susceptibility to teratogens varies with the dose and the developmental stage at the time of exposure. c) Teratogens act in specific ways (mechanisms) on developing cells and tissues to initiate abnormal embryogenesis (pathogenesis). d) Weak teratogens are much more common than potent teratogens. e) Almost any agent that is toxic to the mother can damage the embryo. f) Agents that are not teratogenic individually may be teratogenic in combination. g) Teratogenic agents tend to produce characteristic patterns of anomalies. 17 Teratogens University of Manitoba Faculty of Medicine Med I/ HD014 Dr. A. Chudley

Teratogenic Agents

1. Infection Agents Major Defects

Rubella Intrauterine growth retardation (IUGR), deafness, cataracts, cardiac, anomalies, mental retardation (MR)

CMV IUGR, hearing loss, MR, "Blueberry-Muffin" syndrome

Toxoplasmosis Hydrocephalus, blindness, MR

Varicella Scarring, muscle atrophy, ?MR, disruptions (CNS, limb)

Venezuelan equine Brain destruction, cataracts encephalitis

Syphilis Abnormal teeth and bones, MR

2. Maternal Illness/- Major Defects Lifestyle/Occupation

Smoking Abortion, growth failure, ?learning disability

Diabetes mellitus Congenital heart, caudal regression syndrome, anencephaly

Maternal phenylketonuria Abortion, microcephaly, congenital heart, MR

Endemic cretinism Goiter, IUGR, MR

Hyperthermia (>102 F. for >24 hrs.) CNS anomalies

3. Ionizing Radiation Major Defects

(usually >5 rads) Abortion, organ anomalies (18-36), microcephaly and MR 98-15 weeks)

4. Drugs Major Defects

Thalidomide Limb anomalies (phocomelia), girdle hypoplasia, ear anomalies, congenital heart

Alcohol IUGR, failure to thrive, short palpebral fissures, microcephaly, MR, learning disabilities, attention deficit, short term memory deficit

Diethylstilbesterol Vaginal Adenosis (rarely adenocarcinoma), cervical erosions, infertility in male

Warfarin Hypoplasia of nasal cartilage, stippled epiphyses, CNS anomalies

*Hydantoin (Dilantin) IUGR, dysmorphic facies, MR, nail dysplasia, microcephaly (and probably all anti-convulsants)

Continued:

Drugs Major Defects

*Valproic acid Neural tube defects (spina bifida), growth failure characteristic facies

*Trimethadione MR, facial clefting, V-shaped eyebrows

Aminopterin Abortion, IUGR, MR, hydrocephalus (folate antagonist)

Streptomycin Hearing loss

Tetracycline Staining of teeth and hypoplasia of enamel

Lithium Cardiac anomalies (Ebstein cardiac defect)

*Carbamazapime Spina bifida, growth failure

Antithyroid (Methimazole) Goiter, hypothyroidism, rarely cutis aplasia

Androgens and high Masculinization, ?hypospadias dose progestines

Penicillamine Skin hyperelastosis

Anagyrine (lupine Red cell aplasia, skeletal dysplasia plant alkaloid)

Accutane Hydrocephalus, ear anomalies, cardiac anomalies, abortion (13-cis-retinoic acid)

Cocaine rarely, IUGR, limb defect disruption, renal anomalies

Solvents IUGR, developmental delay, some features similar to children with Fetal Alcohol Syndrome

Fluconazole brachycephaly, abnormal skull, cleft palate, femoral bowing

Misoprostol Moebius anomaly, terminal transverse limb reduction defects, club feet, contractures

Trimethoprim Neural tube defects, oral clefts, hypospadias, cardiovascular defects

Note:

* Most anticonvulsants are associated with some teratogenic risk. Women on these drugs need to be advised about this risk – 5% to 10% or higher, with the risk increasing with dosage and polytherapy.

The following agents and drugs are not confirmed teratogens: Acetaminophen Cortisone ASA Tricyclic antidepressants Marijuana Oral contraceptives LSD Rubella vaccine Bendectin Video display Phenothiazines Ultrasound

Mechanisms of Teratogenesis Most teratogens have their effect at early stages of embryogenesis or organogenesis, but mechanisms are poorly understood. The figure below summarizes both potential mechanisms and pathogenesis.

MECHANISMS PATHOGENESIS (Initial cellular reaction) (abnormal developmental sequence)

1. Mutation EARLY FINAL COMMON 2. Chromosomal non- PATHOGENESIS PATHWAY(S) disjunction

3. Mitotic interference Cell death Insufficient cells or cell 4. Altered nucleic and Failed cellular interaction products to carry out functions (induction) morphogenesis or to 5. Lack of substrates, Reduced biosynthesis carry on function

precursors, etc. Impaired 6. Lack of energy sources morphogenic 7. Enzyme inhibition movement FINAL DEFECT 8. Changed membrane Mechanical disruption characteristics e.g. fluid blobs, etc. 9. Osmolar imbalance

Pathogenesis of developmental defects. Initial cellular reactions and abnormal sequences [From Wilson, J.G.: Environment and Birth Defects. New York: Academic Press, 1973.]

Recently, studies have suggested an enzymatic biomarker may be useful in identifying fetuses at increased risk of having congenital anomalies induced by anticonvulsant drugs. Most anticonvulsants are teratogenic; they are also associated with an elevated level of oxidative metabolites (toxic intermediates) which are biotransformed and eliminated by the enzyme epoxide hydrolase. Studies of this enzyme show a trimodal distribution in a given population (i.e. homozygous wild, heterozygotes and homozygous deficient). The fetuses at risk for the Fetal Hydantoin Syndrome appear to have very low activity of the epoxide hydrolase (the parents are therefore heterozygous). Thus this implies evidence for genetic susceptibility to teratogenesis on exposure to specific drugs eliminated by this process. (See Buehler et al., New England Journal of Medicine. Vol 1990: 322:1567-72, 1990). There is also evidence that differences in metabolism of folic acid may explain the increased risk of congenital anomalies. (See Dean JCS, Moore SJ, Osborne A et. al. Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene. Clinical Genetics 1999; 56:216-20)

D. Summary Most drugs should be avoided during pregnancy, but if drugs are prescribed, the potential risks must be considered acceptable relative to the benefits of taking the medication. Most women taking teratogenic drugs may be unaware of the risks, or get pregnant unintentionally. If this should occur, the patient is advised to discuss fully with an informed physician (or geneticist) the risks involved and whether specialized prenatal testing is indicated.

Parenting Issues- Challenges and University of Manitoba Opportunities Faculty of Medicine MedI/HD015 Dr. S. Longstaffe 2007

Learning Objectives:

At the end of this session, the learner will be able to: 1. Discuss the effects of adult developmental stage on an individual‟s readiness to parent. 2. List some societal and cultural influences on parenting ability. 3. Describe how an individual‟s life experiences affect ability to parent effectively. 4. Recall interview questions appropriate for assessing parent/infant attachment.

Adaptation of parenthood has both biologic and psychological components. Parents are engaged in identifiable developmental processes themselves as their children are born and develop.

Theorists have advanced the concept of an adult life cycle (eg. Erikson‟s 8 stages of man) extending from birth to old age. Each stage occurs in orderly progression and each has developmental tasks. Individuals may experience the stages in radically different ways. Stages are characterized by periods of stability followed by transitions which cause one to question and reappraise the existing structure.

Stages of Adult Development

The stages of adult development include:

1. Early adult transition (17-22 years)  Learn preadult world 2. Early adult years (22-40 years)  Explore possibilities  Create and redefine stable adult life structures  Establish a place in society

3. Mid-life transition (40-45 years)  Seek outlets for neglected parts of self

4. Middle adulthood  May be a time of questioning self and readjustment

Besides provision of basic necessities, universal needs of children include most importantly a primary attachment to a caregiving figure, usually parents, who will attempt to provide unconditional love to the infant. Safety, continuity of care, stimulation and guidance are all important points of effective parenting.

Med I – HD015

Parenting Issues – Challenges and Opportunities

The child‟s needs change depending on the infant‟s development with correspondent different parenting responses needed.

Infants have a major need for physical care, while toddlers in the second year of life need both care and limits. Preschoolers have a major need for socialization, body image clarification and help with language. School age children need broader experiences while in adolescence there is the need for developing autonomy.

Parenting may occur in the context of unpredictable life stressors. It is also influenced by the social, cultural and historical context of the family. Current issues include maternal employment, day care, teenage parents, blended families, single parenting, homelessness, and the effects of drugs and alcohol.

Effects of Life Experience and Culture

The life experience of the parent has potentially profound effect on readiness to parent, reasons for parenting and ability as a parent. A parent who was abused, neglected, lacked parent child attachment or was chronically undervalued early in life may have the task of attempting to heal self while nurturing a child. Even in a normal family there are for every person some unresolved conflicts from early life that may be reinacted when a person assumes a parenting role. This has been termed “Ghosts in the Nursery” by S. Franberg.

The society and culture in which a family lives may have major effects on parenting depending on such issues as how children are valued and how much violence is tolerated.

Effects of Timing of Pregnancy

Timing of the first pregnancy has an effect on parenting. Parenthood is the final transition into adult responsibility. The stage of development of the parent at the time parenting starts will have effects on many qualitative aspects of the parent‟s attitudes and behaviours.

As part of the pediatric history and physical exam there is a need to assess the parent‟s contribution to the child‟s developmental state and to provide anticipating guidance on these matters to parents.

Questions about the family structure, parent‟s early life experience, current stresses and expectations for parenthood will all help the clinician assess the parent developmental state and parenting style.

In anticipated guidance one wishes to help parents gain an awareness of their own issues, recognize their strengths and vulnerabilities and be prepared for stages to come.

Immunizations University of Manitoba Faculty of Medicine Med I/HD016 Dr. J. Embree 2007

Theme: Vaccines Work but...... Vaccines don’t work if you don’t give them! Objectives: Students will be able to: 1. Understand the importance of routine immunization to a child‟s health. 2. Use the Canadian Immunization Guide to answer questions regarding childhood immunization and commonly used vaccines and solve problems as they arise. 3. Know the current immunization schedule routinely used for infants and children in Manitoba and update their knowledge as the schedule changes. 4. Describe what constitutes an adequate immunization history and list four ways to obtain it. 5. List 6 pieces of information that should be recorded in a child‟s health record whenever a vaccine is given. 6. Define “missed opportunities for immunization” and know how to avoid them.

The Importance of Routine Immunization to Child Health Childhood immunization is the single most cost effective health intervention ever undertaken. Among the success stories are:  global eradication of smallpox (as of May 1980);  eradication of “wild-type” polio from the Americas (last known case-Peru 09/91)  > 90% reduction in invasive H. influenzae type b (Hib) infections with universal use of conjugate Hib vaccines in infancy  significantly reduced liver cancer in Taiwan due to universal administration of HBIG and Hepatitis B vaccine in infancy Such successes leave no room for complacency, however, as the vaccine scene is a rapidly changing and evolving one and physicians must learn how to keep pace with new developments and challenges not only to fulfill their role as healthcare providers and advocates but also to meet increased consumer expectations and demands that they provide accurate and timely information regarding risks as well as benefits of immunization. Recent and likely changes are summarized below: Recent changes in Canadian vaccine schedules include: a) 1992: change from DPT to DPT-Hib for 2,4,6 an 18 month olds b) 1996: change from one to two doses of measles plus a catch-up campaign c) 1992 - 1998: addition of Hepatitis B vaccine to the routine childhood schedule in all provinces d) 1996-1997: change from oral (OPV) to injected (IPV) polio vaccine in Canada e) 1997: switch from whole cell pertussis vaccine to safer and more effective acellular pertussis vaccines Likely changes over the next 10 years. a) Canadian licensure of rotavirus and conjugate meningococcal/pneumococcal vaccines b) Introduction of the varicella vaccine into the routine childhood immunization schedule c) Introduction of routine acellular pertussis immunization for adolescents and adults

Advances on the horizon a) DNA vaccines for Hepatitis B and Influenza b) Use of genetically engineered foods as a way to deliver vaccines.

23 Immunizations HD016

Despite their importance vaccines and immunization practices are a small part of the vast array of knowledge and expertise that trainees are expected to acquire during and after medical school. A basic knowledge of the routine childhood schedule is essential but this can be summarized in very brief form, as shown below, and kept close at hand. Manitaba Childhood Immunization Schedule Age at Vaccination DaPTP Hib MMR HBV Td P* 2 months X X 4 months X X 6 months X X 12 months X 18 months X X 4-6 years X X Grade 4 (approx 10yrs) X 14-16 years X X* DaPTP Four component vaccine: D=Diphtheria; aP= acellular pertussis; T=tetanus; P=inactivated polio Hib Hemophilus influenzae type b conjugate vaccine MMR Measles, Mumps, Rubella vaccine HBV Hepatitis B Vaccine Td Tetanus and diphtheria toxoid, “adult type” * P at 14-16 years: required if all previous immunizations have been P

Four Ways to Accurately Determine a Child’s Past Immunizations:

1. For patients seen at Children‟s Hospital, request a MIMS printout. MIMS stands for Manitoba Immunization Monitoring System and is an electronic data base containing immunization information on all children born or entering Manitoba since the early 1980‟s. All vaccines given in physician‟s offices and Public Health clinics are entered using a coding system that allows for distinction between type and number of immunizations. To get a printout for the chart from the MIMS terminal in the Children‟s Hospital clinic: call 787-3038 (voice mail available outside of clinic hours) and provide the child‟s name, date of birth and PHIN number (or MHSC number if the PHIN isn‟t known). NOTE: There may be a delay between immunization and recording of billing data so vaccines given within the preceding few months may not yet be entered into the database. 2. Take a history from the parent(s)/guardian(s): Ask the parent‟s if they have an “immunization card” which records all the vaccines given since the child‟s birth. If not try to determine which of the immunizations as per the schedule above have been given: when (approximate age), where (ie province or country if not in Manitoba), and by whom (public health clinic, personal physician, hospital, etc). If the parents don‟t know ask who provided the last vaccine and try #3 or #4 below. 3. Speak to the child’s physician and ask which immunizations the child has received to date. 4. Call the public health clinic where the child receives immunizations and ask what has been given.

What to record as the child’s immunization history in the chart: be specific and complete. Show that you know what is meant by “up to date” by recording the vaccine name and number of doses given since birth: eg using one of the sources above you determine that a previously healthy two year-old admitted for croup, “has received 3 doses of DPT-Hib, 3 doses of OPV and 1 dose of MMR”. The italics indicate what should be written as part of the history. Compare this to the recommended schedule and you can see that the child is missing the 4th dose of DPT-Hib. This should be noted as a “problem” and management should include plans to provide the doses at the time of discharge from hospital or as soon as possible thereafter. When the vaccine is given during the hospitalization be sure that the following information is recorded in the chart, and communicated to the regular immunization provider: date given, vaccine name and manufacturer, vaccine lot number, site (ie left thigh, right deltoid etc) and route of administration (IM, sc, intradermal, oral)

24 Immunizations HD016

If the child, referred to above, goes home and is not immunized then the hospital stay would be considered a “missed opportunity for immunization”. Such a situation arises whenever a child presents to health care providers in a clinic or hospital setting and the missing immunizations are either not recognized or not given. The consequences can be severe. Since the 1992 introduction of routine immunization with Hib conjugate vaccine in Manitoba one toddler died and one pre-school child suffered permanent hearing loss, both due to H. influenzae type b meningitis. Both children had been seen on several occasions by physicians at a time when it would have been appropriate to immunize but neither child was ever given Hib vaccine. Similar examples have occurred elsewhere in Canada. Make sure that you know enough about immunizations that you can honestly say, had these children been under your care, their missing immunizations would have been noted and that you would have ensured that they were given. In doing so you could have made a difference to each child‟s future.

Beyond knowing the current childhood immunization schedules and learning to obtain and properly record a child‟s immunization history you should identify and learn to use the many resources that are available to help answer problems as they arise and to keep up to date with changes. The questions for the assigned study can all be answered by using the Canada Immunization Guide. When more complex problems arise other resources are available some of which are listed below.

Published Resources:

Canadian Immunization Guide: 7th Edition, 2006 (if possible, personal copies will be provided for the assigned study. If not several copies will be put on reserve at the library) Published every four years by the National Advisory Committee on Immunization (NACI) which consists of expert consultants in public health and infectious disease and reports to the Minister of National Health and Welfare via the Health Protection Branch in Canada. In between editions NACI publishes updates whenever new vaccines are licensed or new recommendations arise due to new knowledge (see below)

Your Child’s Best Shot: A parent’s guide to vaccination, On reserve in the library. Published in March, 1997 by the Canadian Pediatric Society and written by members of the CPS Infectious Disease and Immunization Committee. It contains information on all the vaccines that are part of the routine schedule, along with a section on special purpose, foreign travel and new vaccines. It is geared to parents but is an excellent resource for all individuals including physicians and nurses who are involved in providing vaccines, and as part of that role, in educating parents and children about why we immunize and what the risk benefits are for each of the commonly used vaccines.

Manitoba Health: A variety of information pamphlets are published and available at no charge. A package of currently available material is on reserve at the library. If you wish to obtain any of these you can FAX a request to : Library Services, Manitoba Health at 599 Empress; Fax no. 945-5063.

1997 Red Book: Report of the Committee on Infectious Diseases, 28th Edition (on reserve at the library, and available for sale in the bookstore) Written and updated every three years or so by the American Academy of Pediatrics(AAP), Committee on Infectious Disease. It is larger than the Canadian Immunization Guide and contains practical information on most childhood infections including vaccine-preventable ones. This is a very useful book but it must be remembered that it reflects U.S. practices. Recommendations in Canada may differ.

Compendium of Pharmaceuticals and Specialties (CPS) This is included as a resource for two reasons. First the lavender pages at the front include information on reporting adverse events along with the actual form to be used (1996 version pages L6-8). Copies of the forms can also be obtained from Manitoba Health. Secondly,

25 Immunizations HD016

information published in the CPS consists of product monographs prepared by the vaccine manufacturers as part of the application for licensure of a product. Once licensed the monograph is seldom updated unless there is a specific change in formulation. Avoiding litigation is clearly a purpose of the monographs. As a result the monographs‟ indications, precautions and contraindications may differ from what is recommended in the Canadian Immunization Guide based on currently available literature and expert consensus. When such a discrepancy is identified it is best to contact local Public Health or Immunization experts to help resolve the problem.

Updates on newly licensed vaccines, changes in current recommendations and timely information regarding vaccine preventable diseases are published in the following: for Manitoba: Centre for Disease Control (CDC) Manitoba publishes monthly updates on a variety of public health issues specific to Manitoba including information on vaccine preventable diseases. This is distributed primarily to public health officials and liaisons throughout Manitoba but copies are also sent to the Infectious Disease consultants and fellows at U of M and to infection control nurses at the teaching hospitals and elsewhere. from NACI: Canadian Communicable Disease Report; Canadian Medical Association Journal from CPS: Canadian Pediatric Journal and Canadian Infectious Disease Journal from American Academy of Pediatrics: Pediatrics from the U.S. Centre for Disease Control (CDC): Morbidity and Mortality Weekly Report (MMWR) is published weekly, contains current vaccine recommendations, reports of specific disease activity and changes in policy statements including those from the CDC‟s Immunization Practices Advisory Committee (ACIP)

Web Sites:

Public Health Agency of Canada (PHAC): http:// www.phac-aspc.gc.ca/ - contains disease surveillance and control information, disease prevention guidelines, health hazard advisories and travel health information, PHAC publications since 1995, Canada Communicable Disease Report (CCDR - where NACI updates are published), and descriptions of PHAC‟s epidemiology and laboratory programs. The site also provides links to other public health sites in Canada and to international public health bulletins.

Canadian Pediatric Society (CPS): http://www.cps.ca

U.S. Centre for Disease Control (CDC): http://www.CDC.gov/travel/travel.html for up to date information re vaccination schedules for world-wide travel; and http://www.CDC.gov/CDC.html for the MMWR reports.

World Health Organization(WHO): http://www.WHO.CH/

Canadian Immunization Guide, 7th Edition, 2006, and Update to 2002 Immunization Guide – http://www.phac-aspc/gc.ca/publicat/cig-gci/index.html

Human Resources: Manitoba Public Health: Immunization-related questions can be directed to Manitoba Health by calling Dr. Digby Horne office at 945-7077.

PHAC Bureau of Immunization: general information 613-957-1340; FAX 613-998-6413

26 Immunizations HD016

Questions for Assigned Study on Immunization

(All answers can be found in the Canadian Immunization Guide. It is up to you to find them. No other answer sheet will be provided. If you have specific questions or concerns please feel free to call Dr. Law at 789-3629)

1. A mother comes to your office with her 4 month old daughter for the second doses of DPT-Hib and OPV. She is concerned about whether or not the child should be immunized because after the first DPT immunization the infant developed a fever of 41 o C and cried non-stop for 3 and 1/2 hours. Are these true contraindications to the 4 month dose of DPT? 2. The next patient is a 6 month boy in for the third dose of DPT-Hib. As you examine the child you notice that he has a runny nose and a left-sided otitis media. The mother states that he has been a little bit more fussy than usual and not eating as much but otherwise seems OK. The nurse reports that the baby‟s rectal temperature is 38.7 o C. Should you give the DPT-Hib or schedule a return visit in one to two weeks to give the vaccine? 3. The last patient of the day is a 2 month old infant due for the first DPT-Hib. The mother informs you that the child‟s father is known to be allergic to penicillin, peanuts, eggs and neomycin. So far she has not witnessed any allergic symptoms in her son but is concerned that there may be problems. a) How long should you observe the infant in your office after the immunization to be sure that anaphylaxis is not occurring? b) List 4 cardinal features of anaphylaxis that may occur in this infant. c) What are the five key steps in managing anaphylaxis if it occurs in the infant? d) The mother is breast feeding and also want to know whether that will have any effect on the infants response to the DPT-Hib or OPV. What will you tell her? 4. Having finished seeing your clinic patients you stop by the NICU to talk to the parents of a 6 week old baby who is about to be discharged home. This infant was born at 32 weeks gestation, and thus is 38 weeks post- conceptual age. When should you ask the parents to come to clinic so you can begin the infant‟s primary immunization series? 5. While taking call on the weekend you see a 14 month old toddler who is admitted to hospital with 5% dehydration due to moderately severe gastroenteritis. The parent‟s look familiar and you remember that you gave this boy his first two DaPTP-Hib shots at age 2 and 4 months, but have not seen him since. The parents explain that they have been posted in Eastern Europe as teachers with a CIDA program and were worried about having the child immunized there. They would like to resume the immunization program as soon as he gets better. What will he need to get back on schedule? 6. The same parents also tell you that they adopted a 10 year old orphan that they came to know and love while they were with CIDA. As far as they know the girl has never been immunized. They would like to have her immunizations completed as soon as possible. a) How long will it take and what vaccines should the child receive? b) The parents also tell you that she had been given a single dose of hepatitis immune globulin just before they took her from the orphanage and returned to Canada, approximately 3 weeks ago. Does this affect your plans for updating her immunizations and if so, how? 7. It is a quiet day in the clinic and your office staff is cleaning out the refrigerator. They discover some boxes of DPT vaccine that were stored near the back of the fridge. The boxes have ice on the top, and when opened it appeared that the liquid vaccine was partially frozen. What should be done with the vaccines?

27 Immunizations HD016

8. You have started a brand new clinic and plan to do a lot of infant immunizations. What size, including both gauge and length, needles should you order for giving IM injections of DPT-Hib to 2month olds? 9. A mother brings her 3 year old child to clinic in order to get a Hib shot. On questioning you find out that the family has recently moved to Canada from New Zealand. The child has received 4 DPT-IPV shots and a single dose of measles. Does the child need to be immunized against Hib and if so what should be given? 10. For each of the vaccines, or vaccine components, in the routine childhood immunization schedule, indicate which of the following three categories of vaccine type they fit into: a) live attenuated microorganisms which immunize by growing in the body and causing a minor, often asymptomatic infections; b) inactivated whole microorganisms; c) purified parts (subunits) of microoranisms which produce a protective immune response; 11. You probably received three doses of Hepatitis B vaccine during the first year of medical school. Will you need a booster dose in the future, and if so, when? 12. In addition to the routinely recommended childhood vaccines, a number of other vaccines are available for use in special situations such as foreign travel, or in the presence of host illness which increases the risk of certain vaccine-preventable infections. For each of the following vaccines list three groups of children who should be immunized: a) Pneumococcal polysaccharide vaccine b) Influenza vaccine 13. You are discussing the risks and benefits of getting the primary DPT-Hib vaccine series with a young mother who has brought her firstborn infant in for the 2 month well baby visit. She wants to know what the expected side effects of the first DaPTP-Hib needle will be and whether or not anything can be done to decrease the likelihood of her developing any of them. What will you tell her? 14. As a child you got “DT” as given to preschool children as part of the DPT vaccine, but as an adult you get dT. What is the difference between “D” and “d”? When was your last dT booster and when should you get another one? 15. During your lunch break in middle of a busy clinic day you are called to the phone. It is the head nurse of the normal newborn nursery at Women‟s Hospital calling to inform you that the mother of a 1 day old newborn, under your care, has just broken out in chickenpox. They anticipate that you want the baby to get VZIG but are unsure of the dose and want to check it with you. What do you tell them? 16. When should a rash that develops within a week following immunization be reported as an adverse event?

28 Clinical Dysmorphology and Cytogenetics University of Manitoba Faculty of Medicine Med I/ HD017 Dr. A. Chudley Page 1 2007-2008

HD017 – Clinical Dysmorphology and Cytogenetics Tutorial Questions

Objectives: Following this tutorial the students will be able to: 1. Outline steps to be taken in the review of a patient with multiple anomalies and suggest appropriate investigations based on the observations made. 2. Identify factors in the family history and clinical evaluation of individuals that would suggest a high risk for cytogenetic abnormalities. 3. Give appropriate recurrence risk figures for individuals in families in which a cytogenetic abnormality has been detected.

CASE I

You are asked to evaluate a 6-year-old child. His mother was told by the teacher that his behaviour is a problem that interferes with classroom activities. He is disruptive, does not pay attention, and he is immature and aggressive in his interactions with his peers. He has not progressed academically. On your examination, his growth parameters are in the lower percentiles (short and underweight), and his head circumference is 2 standard deviations below the mean for his age. He looks a bit unusual, with small eyes, a long, poorly formed philtrum, and a thin upper lip. No other features were noted on examination.

Questions 1-1 List 3 points in the history that will help you arrive at a differential diagnosis.

1-2 What tests would you consider doing?

1-3 What is your diagnosis, and what interventions might you consider?

CASE 2

A 2-hour-old newborn female was noted to have a cleft lip and palate. No other anomalies were noted. You are asked to make recommendations on care and follow-up.

Questions 2-1 What 3 points in the history do you wish to document in the family and with the child?

2-2 What are the medical concerns now and in the future for the child?

2-3 How would you approach counselling the family?

CASE 3

A 27 year old G4P1SA2 woman has a 2 year old son with Down Syndrome. She is now 14 weeks pregnant and has come to you for her obstetrical care.

Questions 3-1 What information do you require before advising on pregnancy management? 3-2 The child's karyotype is 46,XY,der(14;21)(q10;q10),+21 or 46,XY,rob(14;21)(q10;q10),+21. NOW what do you advise? (See Page 2) 3-3 How does her son differ clinically from other Down syndrome children with the karyotype 47,XY or XX,+21 (trisomy 21). Question #3 Illustration

Clinical Dysmorphology and Cytogenetics University of Manitoba Faculty of Medicine Med I/ HD017 Dr. A. Chudley Page 2 2007-2008

CASE 4

Deborah and Steven have a 4-year-old daughter Karen. She is developmentally delayed and has a small ventricular septal defect (VSD). The couple are planning another pregnancy. Chromosome studies were requested and Deborah was found to be a balanced translocation carrier. The translocation involved representative chromosomes A and B. (See Page 3)

Questions 4-1 The family tree and the gametic segregation products of this balanced translocation are outlined. What segregation products are likely to have explained the anomalies in Karen, and why? Question #4 Illustration

Children’s Health Status – Student Notes University of Manitoba Faculty of Medicine Med I/HD019 Dr. M. Moffatt 2007

Objectives:

At the end of this lecture/tutorial you should be able to:

 know which measures (indicators) are used to evaluate child health status  interpret data on child health  list 5 major determinants of child health  describe the role of health care in promoting healthy child development  be aware of the impact of poverty on child health be aware that there are special programs aiming to address child health issues

The Powerpoint slides for the lecture will be posted on the e-reserve at the Neil MacLean Library under the Human Development Block.

Key Slides:

Determinants of child health  Genetics  intrauterine environment  birth weight  social environment  poverty  attachment/parenting  physical environment  safety  nutrition

Children‟s Health Status HD019

The Health Council of Canada has recently published a report on the health status of children in Canada - “Their Future is Now Healthy Choices for Canada’s Children and Youth” June 2006, which can be accessed at - http://www.healthcouncilcanada.ca/docs/rpts/2006/HCC_ChildHealth_EN.pdf

It represents an interesting summary of the current status of child and youth health and discusses how programs should work toimprove the lot of children. Please read through at least Chapter 3 prior to class. Chapter 5 also talks about program development. The information and graphs necessary to answer the tutorial questions below are found within this resource.

There will be several hard copies of the report in each tutorial room for group work. If I can get enough I will distribute to students via the mailbox.system.

1) Look at the projected distribution of Canadian population by age group (Figure 1 page 8)

a) What is happening to the absolute number of children ? b) What is happening to the relative proportion of children in Canadian society? c) Discuss the implications of these observations.

2) Look at the graph in Figure 3 page 17.

a) What is happening to the Low Birth Weight Rate? Can you suggest reasons why this might be happening? b) Why does the prematurity rate seem to be going up? c) How is it possible that both of these trends are happening simultaneously? d) What are some of the implications for health care services? e) Does prenatal care affect either of these outcomes?

30 Children‟s Health Status HD019

- 2 -

3) Injury is a preventable problem of childhood. Figures 5 and 6 show some data on trends over time in Canada and an international comparison.

a) Are we doing better at injury prevention? Why might this be? b) The international data shows that we are not the best. What might explain this?

4) Obesity is an increasingly common finding in children. Figure 7 shows that there are large inter-provincial differences.

a) Where is MB in the list? Why? b) Which of the proposed solutions in Chapter 5 are most likely to work. c) Should childhood obesity be viewed as a societal or clinical problem?

5) The term “vulnerable child” is used in this report to refer to children who are susceptible to physical or developmental/mental health problems. It is based on “Vulnerability Index created for the National Longitudinal Survey of Children and Youth. Figure 9 shows that there is a definite risk in poor children. But is also shows that there are significant numbers of “vulnerable children” in the highest income group. What implications does this have for program development?

Pediatric Infectious Disease II University of Manitoba Faculty of Medicine Med I/HD020 Dr. J. Embree 2007

Objectives:

1. Discuss how the factors that influence infections in infancy affect the presentation and organisms isolated from infants in the first month of life. 2. Discuss how the factors that influence infections in childhood affect upper respiratory tract infection in childhood. 3. Discuss how factors that influenceinfections in adolescence affect sexually transmitted diseases in adolescence.

1. One afternoon in your office, you see three children with suspected bone/joint infections. One is a 21 day- old infant girl who will not move her right arm, the second is a 2 year-old boy who will not walk and the third is a 14 year-old girl who has a red, swollen tender elbow.

a) What would be the most likely organism(s) in each instance?

b) Why would there be different organisms depending upon the age of the children?

c) How did each child acquire these organisms?

d) What other illnesses might each of these patients have?

2. You are continuing your run of 3's. The next day in your office, you diagnose a 3 month-old baby as having bronchiolitis, a two year-old with pneumonia and a 13 year-old with pneumonia.

a) What would be the most likely organism(s) in each case?

b) Why are there different likely organisms in each case?

c) How did they acquire these organisms?

d) What other illnesses might these patients have?

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

Learning Objectives:

1. Given height, weight and head circumference data, assess the growth of an infant using CDC growth charts. 2. Given case study data, identify the questions about eating behaviour and food intake necessary for an accurate dietary assessment. 3. Describe 5 health advantages to an infant being breast fed. 4. Identify the current Canadian guideline for vitamin and mineral supplementation of a) breast-fed and b) formula-fed term infants during the first year of life. 5. Identify the recommended alternative to breast milk for healthy term infants. Identify the nutritional concerns related to feeding infants a) canned evaporated milk, b) pasteurized cow‟s milk, c) goat‟s milk, and d) vegetarian beverages. 6. State the guidelines, and rationale, for introducing 2% milk and skim milk into an infant‟s diet. 7. Give 4 reasons why solid foods should be delayed until 6 months of age. 8. Describe the recommended timing and sequence for introducing solid foods into an infant‟s diet. 9. Explain why the texture of baby food is important for developing normal eating behaviours.

Learning Activities:

1. Review the document Nutrition for Healthy Term Infants: Statement of the Joint Working Group: Canadian Pediatric Society, Dietitians of Canada, Health Canada (Health Canada 1998). Updated 2005. This is available at http://www.hc-sc.gc.ca/fn-an/pubs/infant-nourrisson/nut_infant_nourrisson_term_e.html. 2. Review the infant feeding guidelines provided. 3. Review Chapter 2, Pediatric Nutrition and Nutritional Disorders (Nelson‟s Essentials of Pediatrics, 1998). 4. Consider the 4 case studies given, and prepare your responses to the questions posed. Growth charts are needed to prepare the case studies. You will need to access them on the internet at www.cdc.gov/growthcharts. Under “Growth Charts”, select “Clinical Growth Charts”. Choose Set 2 and print: length-for-age and wt-for-age boys, birth to 36 months; head circumference and wt-for length boys, birth to 36 months; length-for-age and wt-for-age girls, birth to 36 months; head circumference and wt-for-length girls, birth to 36 months. Use these charts for case study questions #2 and #3. 5. Participate in the small group sessions.

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

BREASTFEEDING: CASE #1 During a prenatal visit, your client mentions that she does not plan to breast feed her baby because she will be going back to work when the baby is 4 months old. How would you respond?

Questions for Discussion:

1. We know that medically, “breast is best” for infants (refer to class information and the “Pediatric Nutrition Assessment” notes). What are the benefits of breast-feeding to women?

2. What factors (besides going back to work) deter women from breastfeeding?

3. As a physician, how could you promote breastfeeding a) in an out-patient clinic, b) in a hospital maternity unit, c) when Mom goes back to work?

4. When do we discourage breastfeeding?

5. If Mom does choose to use infant formula, what type of formula would you recommend and why?

FORMULA FEEDING: CASE #2 An infant has been referred to you to investigate potential causes for growth failure. He was born at term with a birth weight of 3.6 kg and was formula fed from birth. He is now 6 months old and weighs 5.4 kg. Head circumference is 43 cm.

Questions for Discussion:

1. Plot this infant‟s growth on the “0-36 months: Boys” chart downloaded from the CDC website. What would you expect him to weigh?

2. Is the growth chart the only assessment to use? What other factors/questions would you ask to assist in determining whether the child is receiving adequate nutrition?

3. How much formula would you expect this infant to consume over 24 hours?

4. What foods would you expect the infant to be eating at this age?

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

INTRODUCING SOLIDS: CASE #3 The mother of an eight-month-old female infant under your care reports that the baby is consuming only breast milk and homemade rice and barley cereal. The infant was born at term with a birth weight of 3.4 kg; length of 49 cm. At 4 months of age, she was 6.2 kg, 61 cm and head circumference was 41 cm. Today she weighs 6.8 kg, length is 67 cm and head circumference is 43.2 cm. The mother feels the infant needs a supplemental beverage and is planning to introduce either goat‟s milk or a soy beverage.

Questions for Discussion:

1. Plot this infant‟s growth on the “Birth to 36 months: Girls” chart downloaded from the CDC website. Is her growth satisfactory?

2. What further questions would you ask about her eating habits?

3. What foods would you expect the infant to be eating by this age?

4. If she chooses to supplement breastfeeding, what concerns would you have about her choices of soy beverage or goat‟s milk

5. What health concerns would you have for the infant?

INTRODUCING SOLIDS: CASE # 4 Parents of a 2 month old breasted infant under your care report that they have already started to introduce rice cereal and fruits. The infant is growing at an appropriate rate.

Questions for Discussion:

1. Why would parents start solid foods before the recommended age?

2. How would you approach this situation with the parents and deliver the appropriate information?

INVESTIGATING ANEMIA IN HOSPITAL: CASE # 5 You are asked to interview parents of an 8 month old male infant admitted with iron-deficiency anemia and poor growth. Parents report that at home, the child drinks 5 bottles per day. They make his formula from powder, a Walmart brand infant formula. Parents report the child refuses infant cereal but eats a good variety of solids and consumes up to 50 spoons of foods per meal. He especially likes carrots, applesauce, green beans and is now eating junior vegetable and chicken dinners. In hospital, the child is eating and drinking well and is accepting infant cereal; average intake is 150 kcal/kg and he is gaining 25 grams per day.

1. What is your assessment? Consider further questions you would ask about his intake at home.

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

PEDIATRIC NUTRITION ASSESSMENT

Anthropometric Assessment

Length (for children from birth to 36 months) and weight are generally considered to be the most important measures of normal growth and nutritional status in children. Head circumference is also valuable in children under 2 years of age.

Growth charts from the Center for Disease Control, National Center for Health Statistics are used to assess a child‟s growth progress over time. The growth curves are based on a cross-sectional sample of healthy children from the United States from 1963 to 1994. These growth curves replaced the 1977 NCHS charts. They better reflect breast-fed infants, have a greater percentile range, have a longer age-frame and have smoother transitions between the two charts. Measurements below the 3rd and above the 97th percentile indicate a need for further evaluation and follow-up. Crossing percentiles in a progressively upward or downward direction may indicate nutritional or health problems and should be investigated.

Dietary Assessment

Any gastro-intestinal problems associated with feeding should be noted (vomiting, diarrhea, constipation, colic). Information regarding the infant‟s overall development, feeding skills and behaviour are important, together with an assessment of the parents‟ socio-economic status, educational level, cultural background, and own attitudes to food and eating. Assessment of the parent-child interaction, and the psycho-social environment of the family are also essential.

For breast-fed infants, the frequency and duration of feeds should be noted. For formula-fed infants, the diet history should include the type of formula used, how it is being prepared, how often it is offered, and how much the infant consumes. The intake of other liquids (water, juice, herbal teas, soft drinks etc) must be recorded.

For infants eating solid foods, the age of introduction of solids, the variety of foods offered, the texture of foods, the frequency of meals, and the amounts consumed by the infant would be noted.

INFANT FEEDING GUIDELINES

A) BREAST FEEDING

Breast feeding is highly recommended for at least the first six months of life and optimally should be continued to one year of age and beyond for the following reasons:

a) supplies most nutrient requirements for the normal, healthy infant. b) provides protection against iron deficiency anemia. c) protects against gastroenteritis, respiratory infections and otitis media. d) reduces incidence of allergies when family history is positive. d) is more efficiently digested and absorbed in comparison to other feedings. e) has appetite regulating mechanism. f) does not increase renal solute load to the same degree as alternate feedings. g) is economical, time saving and sanitary. h) facilitates a strong mother-child bond.

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

Supplementation of the Breast-fed Infant

Vitamin D is recommended (400 IU per day; 800 I.U. per day in northern communities) since most infants in Canada do not receive adequate exposure to sunlight during the fall and winter months and due to use of sunscreen .

Supplementary iron is required at 6 months of age in the form of medication (ferrous sulfate drops 1 mg/kg/24h) or as iron rich solids such as strained meat or iron fortified infant cereal ( need 175 ml/day to meet DRI of 11 mg for 7-12 months of age).

B) BOTTLE FEEDING

Commercial infant formula - If breast feeding is not possible, cow‟s milk-based, iron fortified* formulas are the preferred alternative until 12 months of age. These most closely approximate the nutritional quality of breast milk.

*Although most term infants have sufficient iron stores for the first 6 months of life, iron-fortified formula is recommended for all formula-fed infants as a prophylactic measure. Formulas contain vitamin D.

Evaporated milk formula - the heat treatment of evaporated whole milk makes the protein more digestible than the protein in whole cow's milk. Evaporated milk is fortified with vitamins C and D. For infants under 6 months of age, a 1:2 dilution of milk to water is required to reduce the protein and sodium content, and sugar must be added to adjust the energy density of the formula to 68 kcal/100 ml. After 6 months of age a 1:1 dilution of milk to water can be used. Evaporated milk does not contain iron. Iron rich solids should be introduced at six months of age.

Pasteurized cow’s milk - Whole milk can be given at 12 months of age, as long as the infant is consuming adequate amounts of iron (e.g. approximately 175 mL iron fortified infant cereal) or is taking an iron supplement, and also taking adequate vitamin C. Limit milk to 1 litre/day to ensure an adequate intake of solid food.

2%, 1% or skim milk should not be given under two years of age unless medically indicated. Reasons for the above: a) reduced fat content results in a reduced energy value. Increased consumption to meet energy needs results in a higher protein intake and increased renal solute load. b) inadequate supply of essential fatty acids. c) lack of the fat soluble Vitamins E and K (only Vitamins A and D are added to 2%,1% and skim milk).

Pasteurized goat’s milk - full-fat goat‟s milk can be given at 12 months of age as an alternative to cow‟s milk. The recommendations for using part-skim or skim goat‟s milk are the same as for cow‟s milk. A product fortified with vitamins A, D, and folic acid must be used.

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

Soy, rice and other vegetarian beverages - even when “fortified”, these products are not appropriate alternatives to breast milk or infant formula for infants under 12 months of age, or to pasteurized whole cow‟s milk for older infants. Soy protein-based, iron-fortified infant formula is available for infants fed a vegan diet and is recommended from the time breast feeding ceases until the infant is 2 years old.

Approximate amount of formula to offer

Age of Baby Number of Feedings Amount Per Feeding

1st and 2nd week 6 to 10 per day 50 to 100 ml 3 weeks to 2 months 6 to 8 per day 120 to 150 ml 2 to 3 months 5 to 6 per day 150 to 175 ml 3 to 6 months 4 to 5 per day 175 to 250 ml 6 to 12 months 3 to 4 per day 175 to 225 ml

NOTE: Although most infants can meet their calculated fluid requirements with 100 ml/kg, breastmilk and standard infant formulas provide only .67 kcal/ml. Therefore, to meet energy requirements, infants require 150 ml/kg which will provide the necessary 100 kcal/kg.

C) INTRODUCTION OF SOLIDS

Introduction of solids is not recommended before 6 months for the following reasons:

a) no added nutritional benefits b) increases renal solute load c) can cause allergic reactions d) increases sodium intake e) may lead to overfeeding f) food swallowing reflex may not be fully developed

At six months, an iron-rich food should be the first solid introduced (iron fortified infant cereal or strained meat).

Most commercially prepared baby foods do not have salt or sugar added. Salt and sugar should not be added to home- prepared baby foods.

New foods should be offered (one at a time) in small amounts and then gradually increased. It is advisable not to offer the next new food until 4 to 5 days have passed to determine if the baby is allergic to or upset by any one food and to give baby a chance to get used to each new flavour.

Cereals: Iron fortified infant cereal is typically the first solid given to an infant at 6 months of age. Cereal is a major source of iron and the B vitamins. Iron fortified infant cereals made from a single grain (rice, barley or oatmeal) are given first so that allergies can be easily detected. Strained meats are also a good source of iron and contain zinc which is not added to all infant cereals so may have potential benefits as the first solid food rather than cereal.

Vegetables and Fruits: Strained vegetables and fruits can be introduced after the various cereals have been incorporated into the baby's diet. Incorporating vegetables before fruit seems to facilitate their acceptance, but it is not essential.

Infancy: Nutrition and Growth University of Manitoba Faculty of Medicine Med I/HD021 D Weiten 2007/2008

Fruit Juice: Breast milk or infant formula provide adequate amounts of Vitamin C. Fruit juice is not necessary in the diets of infants. IF fruit juice is introduced, it is best introduced when baby is able to drink from a cup . Commercial infant juices are not necessary. Regular unsweetened juice (apple or orange) can simply be mixed half and half with water., Fruit juice, in a cup, if offered, should be limited to 125 – 175 ml/day to facilitate increased intake of breast milk and/or iron fortified infant formula. High intakes of juice can contribute to diarrhea, overnutrition or undernutrition and development of dental caries (American Academy of Pediatric Committee on Nutrition. The use and misue of fruit juice in pediatrics. 2001, Pediatrics, 107;5:1210-1213).

Meat: Meat can be given as an alternative to iron-fortified infant cereal as the first solid food. Meat is an excellent source of iron and also of zinc. Breast milk lacks both of these nutrients.. Commercial meat and vegetable dinners contain less protein, zinc and iron than the plain strained meats with broth and should not be offered as the first food.

Eggs: Egg white is not traditionally given to infants under 1 year of age to minimize any possible allergic reactions. Cooked egg yolk is allowed.

Approximate Amounts of Baby Food To Offer

The following is only a guideline and represents the amount a baby may consume for the WHOLE day. A normal healthy baby should be allowed to decide how much he or she wants to eat.

Age Dry Infant Cereal Vegetables Fruit Meat

6 months up to 120 mL daily 30ml 7 months 175 mL 60 mL 60 ml 40 ml 8 months 175 mL 75 mL 90 mL 40ml 9 months 175 mL 90 mL 105 mL 45 mL 10 months 175 mL 120 mL 120 mL 45 mL 11 months 175 mL 135 mL 135 mL 60 mL 12 months 175 mL 150 mL 150 mL 60 mL

Texture: Solid food is first offered in semi-liquid/strained form because it is much easier to swallow. At around 6 to 8 months, food with more texture may simply be fork mashed and gradually offered. It is important to incorporate more texture at this critical stage when the baby is ready to chew, whether or not teeth are present. If it is not introduced at this stage some infants develop a reluctance to accept solids and will only accept pureed food for many months thereafter.

Infancy: The First Year University of Manitoba Faculty of Medicine Med I/HD022 Dr. D. Moddemann 2007

OBJECTIVES

Following this lecture demonstration, the student will: 1. Understand the general principles of development. 2. Describe normal development milestones in the first year of life. 3. Discuss how a child's endowment and environment can affect his/her development. 4. Discuss the effect of temperament on development.

REFERENCES

1. Kliegman, et al: Nelson's Essential Pediatrics, 5th Edition. Section II, Chapters 7,8 2. Goldbloom, R.: Pediatric Clinical Skills. Chapter 6, 3rd Edition

Additional resource (Optional) 3. Levine, Carey and Crocker: Developmental-Behavioural Pediatrics 1999, Chapter 3 (on reserve in the library

An understanding of infant and toddler development and behaviour provides a framework for childcare during the first two years of life. A physician, who provides ongoing care of young families can promote maximal child development and prevent unnecessary parental concerns or parent/child conflicts that can contribute to later behavioural disturbances. Early identification of problems can ensure appropriate intervention to maximize development.

AREAS OF DEVELOPMENT

Gross Motor Skills - includes attaining head control, sitting, crawling, walking Fine Motor Skills - includes use of hands, manipulating small objects Cognitive (Adaptive) Skills - includes problem solving skills Language Skills - includes receptive and expressive language Social – Emotional development

Gross motor development

Three processes enable the infant to eventually gain upright posture and the ability to move the limbs across the midline of the body: 1. Balance of flexor and extensor tone. 2. Loss of primitive neurological reflexes. This allows the infant to bring hands to the midline. 3. Evolution of protective and equilibrium (balancing) reflexes in order to sit and walk.

Med I – HD022

Fine motor development

It is largely through these motor acts that the very young child develops and expresses perception and cognition.

Cognitive development

Cognitive development requires the opportunity for manipulation and exploration that is neither too easy nor too difficult. Infants are multisensory and active in their learning process. They utilize their whole bodies and minds to explore the world and people in it.

Language development

Language development can be more sensitive to care giving practises, stimulation, and involvement relative to the other areas of development. Infants communicate from birth.

They communicate to:

1) regulate the caregiver‟s behaviour. 2) to attract or maintain someone‟s attention. 3) to draw joint attention to objects and events (i.e. pointing). 4) to experience the pleasure of communicating.

Reciprocal or conversational language is acquired only through interaction with responsive sources. Through games and routines in the first year, the child learns to take turns in communication. The production of meaningful speech is the result of cognitive, oral-motor and social responses.

Social-emotional Development

Sequential social-emotional and interaction patterns are based on how infants form relationships and interact with their caregivers. Attachment describes the special discriminating bond that develops over time between children and their caregivers. The goal of this is to maintain the child‟s internal security. The creation of a secure relationship of attachment requires the consistent availability of adults who are affectionate and responsive to the child‟s physical and emotional needs.

A film showing the development and assessment of a 4-month, 7-month and 10-month child follows. The following developmental characteristics can be observed:

1. 4 Months The neonatal reflexes are disappearing particularly the asymmetric tonic neck reflex and the Moro reflex. There has been a change from the newborn asymmetric posture to symmetrical posturing with the head in the midline, opening of hands, and hands meeting in the midline. The infant rolls from front to back. The child fixes on objects and follows 180 degrees. Hearing is determined by startle or quieting to sound. Reach and grasp begin. The infant becomes aware of an object in his hand. Vocalizations occur to toys and people. 41

Med I – HD022

2. 7 Months In the gross motor domain, the child has good trunk and head control, can sit, and weight bear in standing. He now has a one hand approach to reach for objects, can transfer objects from one hand to the other and can handle more than one object at a time. His grasp has improved to a radial palmar grasp. He babbles: uses polysyllabic vowel sounds socially and emerging consonant sounds to communicate. Separation anxiety or protest appears, indicating that the child has formed an attachment to his caregiver and absence causes anxiety.

3. 10 - 11 Months The child now sits well, crawls, pulls to stand and may cruise. Hand use is refined and neat pincer grasps are present. The child shows an understanding of cause and effect relationships. He has developed visual memory for unseen objects (object permanence). Language development progresses to vowel consonant combinations: "da da" and "ma ma" and the beginning of true words. Social interactions mature with the beginning of turn taking.

GENERAL PRINCIPLES OF DEVELOPMENT:

The child's development is a reflection of:

1) his/her endowment - genetic make-up - neurological status - sensory status (vision/hearing) - temperament

2) his/her environment - intrauterine (i.e. nutrition, substance exposure, drugs) - parents/family/caregivers - peers - society/culture

Infants and caretakers together help determine the child‟s developmental and behavioural outcome. Appropriate caretaking and nurturing including appropriate developmental and sensory stimulation geared to the child‟s level of development and state have been shown to increase the number of central nervous system synaptic connections.

Med I – HD022 General principles:

1) Development is a complex process that continues through the life cycle. 2) The sequence of development is the same in all children, but the rate of development can vary from child to child. 3) There is a sequence of development within each area of development, but the development in one area does not necessarily run parallel with that in another. 4) Development is intimately related to the maturation of the nervous system. 5) Development occurs in a cephalocaudal direction. (head -> down) 6) Certain primitive neonatal reflexes, such as grasp reflex and walking reflex, have to be lost before corresponding voluntary movement is acquired. 7) Brain maturation and development is influenced by sensory input – vision, auditory, and provision of optimal stimulation at the appropriate time. 8) Development is greatly affected by the environment (nature vs. nurture concepts).

TEMPERAMENT

The quality of a child's development is affected by behavioural differences that are noted as early as birth. These characteristics make up a child's temperament and include:

1) Activity level. The motor component present in a given child's functioning.

2) Rhythmicity (regularity). The predictability in time of any function, e.g. sleep-wake cycle, hunger.

3) Approach and withdrawal. The nature of the initial response to a new stimulus, e.g. new food, new toy, new person.

4) Adaptability. The ease with which the child's initial responses are modified in the desired direction; the ease in accepting change.

5) Sensory threshold. The intensity level of stimulation that is necessary to evoke a discernable response.

6) Intensity of reaction. The energy level of response irrespective of its' quality or direction.

7) Quality of mood.

8) Distractibility. The effectiveness of extraneous environmental stimuli in interfering with or altering the direction of the ongoing behaviour.

9) Attention span and persistence.

These characteristics, which make up the individuality of the child, can be a powerful influence in shaping the outcome of his relationship with his caretaker. The child's behaviour, coupled with parental expectation, based on experience with care giving and with infants from their culture predicts the outcome of their early interaction.

Well Infant Care University of Manitoba Faculty of Medicine Med I/HD023 Dr. M. Collison 2007

Objectives:

After this tutorial:

1. The student should know the schedule of routine visits to physicians during the first two years of life.

2. The student should be able to list 3-4 screening manoeuvres that the physician performs during this period.

3. The student should be able to list appropriate questions in order to assess whether growth and development are within normal parameters.

4. The student should be able to advise on common breastfeeding problems, colic, nutrition, immunization, safety issues during the first years.

References: (no exam questions will be based on the references)

1. Nelson Essentials of Pediatrics, Behrman and Kliegman, 5th Edition, 2006

2. The Complete Book for Mother and Baby Care, Canadian Medical Association, 1996.

3. The Canadian Guide to Clinical Preventive Health Care, 1994. (The Canadian Task Force on the Periodic Health Examination)

4. Rourke Baby Record (Revised May 2006) – Copy will be placed in student mailboxes before before tutorial.

Available at: http://www.cps.ca/english/statements/CP/Rourke/RBRNational.pdf

5. Canadian Immunization Guide, 7th Edition, 2006.

Available at: http://www.phac-aspc.gc.ca/publicat/cig-gci/index.html

44 Well Child Care HD 023

TUTORIAL

Case #1

A one week old baby comes to your office for his first check-up. He was born at his due date (40 weeks gestational age) to a 26 year old G1P1 with a supportive partner who had a healthy pregnancy. The delivery was uncomplicated. Birthweight was 3.5 kg, length 51 cm and head circumference 35 cm. They were both discharged at 48 hours from hospital “doing well” with breast feeding. On this visit his weight is 3.1 kg and he is sleeping. When you wake him, he cries and looks alert for a few minutes before going back to sleep. The physical exam is completely normal except for mild jaundice. He is stooling once a day and the mother is having trouble telling if his pampers are wet. Both sets of grandparents have arrived from out of town and are staying at the house “ready to help”. The mother looks tired, pale and close to tears because he‟s not gaining weight.

1. What is normal growth in the first few weeks of life? Is there cause for concern about this baby‟s weight?

2. What may have caused the weight loss?

3. What might you recommend? (The grandparents are dying to give the baby a bottle so they can help!)

4. Are there any other issues (injury prevention, screening manoeuvres) that should be addressed at a 1-2 week routine visit?

45 Well Child Care HD 023

Case #2

A mother brings her one month old daughter in to see you because she is sure that there is something wrong with her. She screams every night from 10:00 pm to 2:00 am. Nothing seems to help her and she seems as if she is in pain to the parents. This has been happening for seven nights now. The parents don‟t know what to do and are beginning to be sleep deprived. The baby was a healthy term baby with no previous problems noted by yourself on physical exam. On further questioning, the baby eats well (4-6 oz of a recommended infant formula every four hours), is stooling four times a day, has lots of wet diapers and seems content for the most part during the daytime. A complete and thorough physical exam today shows a normal healthy baby who is 4.1 kg (3.5 kg at birth), length 53 cm, head circumference 36.5 cm.

1. What is the most likely cause of the crying?

2. How do you advise the parents? (What should they do? How long can they expect this to go on for etc?)

3. What are the components of a thorough physical exam at this age and in early infancy that help screen out or detect problems?

4. The parents are very worried about SIDS (Sudden Infant Death Syndrome). What can you tell them about it and are there any ways to reduce the risk of SIDS?

5. When do you counsel the parents to phone you or seek medical attention for their baby?

46 Well Child Care HD 023

Case #3 – Immunization

Both parents bring their two month old first baby for a scheduled check up. History and physical exam reveal a well, thriving infant. The first immunization is recommended at which point the parents state that they are not sure if they should have their baby vaccinated. They may have 1) seen a TV program; 2) read an article; 3) scanned information on the Internet; 4) talked with parents of a child suffering a vaccine side effect, any of which make them question the safety and value of immunizations.

1. Which vaccinations are routinely used and which additional vaccinations should be considered?

2. Do the parents have the right to refuse vaccination for their infant?

3. What steps should be taken to obtain informed consent for immunization?

4. What are the benefits and risks of immunizations?

5. What other issues should be addressed at this visit?

Reference:

1. Canadian Immunization Guide, 7th edition, 2006 (available at http://www.phac-aspc.gc.ca/publicat/cig-gci/index.html

2. Report of the Committee on Infectious Diseases (AAP Red Book), 2000

47 Well Child Care HD 023

Case #4 – Introducing Food

A six month old breast fed infant is seen for a well visit with vaccination. The only nutritional supplement is Vitamin D infant drops. Until four months the baby had been growing on the 50th percentile for length, weight and head circumference. The baby remains at the 50th percentile for length and head circumference but is below the 25th percentile for weight. The parents make enquiries about starting baby food.

1. Is the pattern of growth abnormal?

2. What would be the significance of cessation of linear growth between four and six months?

3. Which additional nutrients, if any, are required by a breast feeding six month old infant?

4. Which foods should be introduced and in what order?

5. What foods should be avoided?

6. How long should this infant be offered breast milk?

7. What other development issues should be addressed at this visit?

Reference:

1. Pediatric Nutrition Handbook (AAP) 1995

48 Well Child Care HD 023

Case #5

A one year old male comes in for a check up. The mother mentions that she is concerned that he‟s not walking. The baby next door (born one week later) has been walking for more than a month. His mother is also not sure whether he needs an immunization or not. He has had three but didn‟t get one at the last visit. He has previously been growing on the 90th %ile for weight, 75th %ile for height and 75th %ile for head circumference. Today his weight, height and head circumference are 11 kg, 77 cm and 47 cm, respectively.

1. Which developmental milestones should you ask about and when would you have expected a normal infant to attain those?

2. Is this child due for an immunization? Which one and are there any food allergies that you should check prior to giving it?

3. Which safety issues around the home should you address now that this child may be walking in the near future?

4. Are there other issues that should be addressed at this visit?

Preschool Development University of Manitoba Faculty of Medicine Med I/HD024 Dr. T. Wiebe 2007

Objectives: 1. The student will acquire an understanding of the development of the child during the preschool years. 2. The student will acquire an understanding of common behavioral issues in the preschool child. 3. The student will be able to describe developmental features necessary for school readiness.

References: 1. Nelson‟s Essentials of Pediatrics, Kliegman and Behrman, et al. 5th Edition, 2006. 2. Developmental and Behavioral Pediatrics, A Handbook for Primary Care. Parker and Zuckerman, et al. 2nd Edition, 2005. 3. Encounters with Children, Dixon and Stein. 4th Edition 2006.

NEUROMOTOR DEVELOPMENT:

Gross Motor Skills Fine Motor Skills Age 2 - Runs and climbs well. - Builds tower of 6 cubes. - Goes up and down stairs (one step at a - Imitates vertical and circular crayon stroke. time) - Turns book pages singly. - Kicks ball. Age 3 - Goes up stairs (alternating feet) - Copies circle. - Jumps from bottom step. - Builds tower of nine cubes - Pedals tricycle. - Stands on one foot momentarily. Age 4 - Hops on one foot. (4½) - Copies cross. - Goes down stairs (alternating feet). - Draws a person with 2 – 4 parts. - Stands on one foot for five seconds. - Uses scissors. - Throws ball overhand. Age 5 - Stands on one foot for 10 seconds. - Copies triangle. - May be able to skip. - Draws person with body. - Prints some letters.

LANGUAGE DEVELOPMENT (wide normal variation):

Age 2: Comprehension - Follows single commands. Identifies body parts. Points to common objects.

Expression - 50+ words. Uses 2 – 3 word sentences. Minimal jargon. Labels common objects.

Speech - Intelligible to strangers at least 25% of the time.

MED I – HD024 Age 3:

Comprehension - Knows functions of common objects. Understands prepositions – in, on, under.

Expression - Vocabulary 250+ words. 3 – 4 word sentences. Uses plurals, pronouns. Can tell age, sex and full name. Can count 3 objects. 90% of utterances are grammatically correct.

Speech - Intelligible to strangers 75% of time.

Age 4:

Comprehension - Follows two part commands.

Expression - 4 – 5 word sentences. Uses past tense. Can tell a story. Names some colors. Can count at least 4 objects.

Speech - Some dysfluency (stuttering) normal.

Age 5:

Comprehension - Recalls parts of a story. Understands number concepts 3, 4, 5, 6. Follows three part commands.

Expression - Sentences of 5 or more words. Uses future tense. Knows 4 colors. Can count 10 or more objects.

Speech - Dysfluencies resolved.

Myths regarding language delay:

- His siblings get him everything he wants, so he doesn‟t have to talk. - He is a boy so what do you expect. - He is in a bilingual household, so we expect him to be delayed. - He is lazy. - He will grow out of it.

MED I – HD024

LANGUAGE & THOUGHT:

Piaget - Stage Theory of Development

- Preschoolers are in the preoperational period. - Cognitively egocentric and believe world is organized around them. - Objects are viewed as having a life (animism) - They reason transductively → assume a causal link or a permanent association when two events are experienced in close proximity - Fantasy, imagination and their own desires influence thinking at this age.

EVOLUTION OF PLAY:

Age 2 - Mostly parallel play. Age 3 - Understands turn-taking. Age 4 - Cooperates with other children.

INDIVIDUAL DIFFERENCES – TEMPERAMENT: The way a child behaves and develops

- Nine temperament dimensions – activity level, level of distractibility, intensity of reaction, rhythmicity, approach-withdrawal, adaptability, persistence-attention span, threshold of responsiveness, quality of mood.

- Easy child, difficult child, slow-to-warm-up child.

- Temperament has implications for parenting.

ENVIRONMENTAL INFLUENCES:

- Family values and child-rearing style – the family has a powerful influence over the behaviors and developing value system of children.

- Sociocultural influences – ethnic and social differences.

BEHAVIORAL ISSUES – COMMON PARENTAL CONCERNS:

- separation from parents. - self-regulation in feeding, sleeping, toileting. - increasing independence. - activity level. - aggressive behaviors, response to discipline. - developing a sense of right and wrong. - impact of television. - preschool programs. - sexual play.

MED I – HD024

FEARS IN CHILDHOOD

- Have their own expected developmental course. - The child must work through fears - Preschoolers‟ imaginary fears should be respected; the fear is real even if the object of the fear is not.

Examples of fears at different ages:

- 2 yrs – going down the rain or toilet - 3 yrs - masks - 4 yrs - imaginary creatures - 5 yrs - dogs

SEXUAL DEVELOPMENT - Gender identity established by age 2 - Gender stability (permanence of this attribute) not solidified in preschool years. - Cross-gender dress-up, fantasy play, stories help children learn that gender is a stable part of one‟s self. - Gender role is established in the preschool years → a sense of what is expected gender specific behavior. - Specific interest in the genitals of self, as well as ohers reaches a peak at this age. Sexual exploration is to be expected and is normal.

BEHAVIORAL MANAGEMENT – DISCIPLINE IN EARLY CHILDHOOD:

1. Skills for promoting a child‟s sense of being lovable:

- Attending to the child: - brief attention immediately. - special time. - ignoring minor transgressions.

- Active listening: - Conveying positive regard: - label the act, not the child. - specific feedback. - assistance with transitions. - thank-you messages.

2. Skills for promoting a child‟s sense of being capable: - routines - models - choices - praise and rewards - appropriate consequences - natural consequences - logical consequences – avoid threats and warnings - time-out – especially for aggressive behaviors - avoid physical punishment 53

MED I – HD024

SCHOOL READINESS:

Questions to ask:

1. Has development been normal? 2. Has the child had experience in a preschool program? Were there any concerns there about the child‟s behavior or development? 3. Does the child know colors, numbers and letters? Can he print his name? 4. Does the child play cooperatively with other children? 5. Are there any immature behaviors? Are there difficulties with toileting? 6. Is speech intelligible? 7. Are there separation difficulties? 8. Can the child dress himself?

Common Behavioural Concerns in Childhood University of Manitoba Faculty of Medicine Med I/HD025 Dr. D. Moddeman/Dr. T. Wiebe/Dr. N. Bowman/Dr. S. Longstaffe/Dr. Hanlon-Dearman 2007

Objectives:

Through the use of case studies, the student will be able to:

1. Discuss the typical presentation, evaluation and initial management of common childhood behaviour concerns such as sleep problems, temper tantrums, food refusal, toilet training, separation anxiety and school phobia. 2. Distinguish between age appropriate abnormal and more serious behavioural concerns.

References: 1. Nelson Essentials of Pediatrics. Behrman and Kliegman, et al. 5th Edition, 2006. 2. Pediatric Clinical Skills. R. Goldbloom 3. Previous lecture notes and lecture content. 4. Developmental and Behavioral Pediatrics. A Handbook for Primary Care. Parker and Zuckerman. 2nd edition (excerpts on reserve in the library)

Rationale: Parents frequently bring children to their physician for advice regarding behavioural concerns. The physician must have a knowledge of normal versus abnormal behaviours. He/she must be able to assess and provide appropriate guidance and advice.

CASE 1: You are seeing a 2 year old for a routine visit. The child is upset from the moment you enter the room. Examining the child is very difficult. Mom has several concerns.

a) Feeding: The child refuses most foods except for large volumes of milk and juice by bottle and some pureed fruits and sweets. b) Sleeping: The child refuses to go to bed unless Mom or Dad go to bed with him. He frequently wakes during the night. c) Tantrums: He has multiple daily temper tantrums. These include falling to the floor, flailing and screaming. He has hit and bit.

Discuss how you would assess these issues and what guidance you would provide:

CASE 2: A 3 year old is to start nursery school but is not toilet trained. How would you counsel the parents?

CASE 3: A 7 year old complains of a stomach ache several times a week, often keeping her from school. It is not associated with vomiting, diarrhea or fever. How would you approach this?

CASE 4: A 10 month old who used to go contentedly to the babysitter now cries when her mother leaves. What would you tell her mother?

Learning and Behavioural Problems I & II University of Manitoba Faculty of Medicine Med I/HD026 & HD031 Dr. J. Perlov 2006-07

Objectives

In the following disorders:

1. Pervasive developmental disorders 2. Attention-deficit hyperactivity disorder 3. Conduct disorder and oppositional defiant disorder

the student will:

1. Describe the symptoms of these disorders. 2. Discuss possible etiological factors 3. Discuss treatment intervention 4. Discuss the impact on the childs learning and on relationships. 5. Summarize the course and prognosis of these disorders.

Methods

1. Lectures on Attention Deficit Hyperactivity Disorder (ADHD), Conduct and Oppositional Defiant Disorders 2. Videos on: ADHD Learning Disabilities Pervasive Developmental Disorders 3. Handouts on DSM IV criteria

Introduction

Children may have similar disorders to adults, e.g.: post-traumatic stress disorders, depression, anxiety disorders, etc.; however, the field of Child and Adolescent Psychiatry is unique primarily because the psychiatrist has the opportunity to view the forces and variables creating psychopathology, e.g., temperamental variations, problems in attachments to parents, parental styles, and learning disabilities. The psychiatrist can take this opportunity to try and shape the childs developing personality and predisposition to psychopathology by individual psychotherapy, family therapy, pharmacotherapy and systems interventions.

Lectures to first year medical students are designed to introduce the student to how to conceptualize the development of childhood disorders and to recognize these disorders.

Speech and Language Development and Abnormalities University of Manitoba Faculty of Medicine Med I/HD027 Dr. D. Moddemann 2007

Learning Objectives:

Following the lecture/demonstration, the student will: 1. List the major communication milestones. 2. List common causes of speech and language delay. 3. Develop a logical approach to assessment of speech and language abnormalities and to provision of intervention. 4. In this context, discuss implications of hearing impairment on development.

References: 1. Nelson‟s Essential of Pediatrics, 5th Edition, Section II, Chapters 7,8,10. 2. Feldman, Heidi M. Evaluation and Management of Languge and Speech Disorders in Preschool Children. PREP, Vol. 26(4), April 2005, pgs. 131-140 (on reserve in library)

Language more than any other skill differentiates humans from other species. Children‟s language development is often used as a gauge for their more general development. Language is the most complex skill we acquire. Many developmental disabilities result in some impairment of language or speech skills.

Speech:

Refers to the sounds that we use to transmit ideas from one person to the other. Problems in speech production includes issues related to articulation, resonance, voice and fluency.

Language:

Refers to the code that gives meaning to the sounds. Language includes its form (phonology and grammar), the meaning of the words (semantics) and the social use of the word (pragmatics). It includes receptive skills (understanding) and expressive skills. Language can also be visual such as American Sign Language.

The Biologic Basis of Language: Human speech features multiple sounds that occur simultaneously across many frequencies in rapid transition. The ear translates the sound waves into hydraulic waves in the middle ear and then to neural activity. The impulses are sent via the eighth nerve to the auditory area of the cerebral cortex. The auditory cortex processes the information further, sending it along to the receptive language areas of the cortex (Wernicki‟s area) where the pattern of auditory signals is recognized.

Thoughts are channeled to the speech area of the brain (Broca‟s area) where thoughts are connected into patterns of neuron activity needed to produce speech. Other regions of the brain including the auditory and motor control and association areas participate in language. Memory function is also important for remembering the thread of a conversation.

Med I – HD027 Major Communication Milestones:

0 - 4 months: Startles to loud noise. Quietens when sound is at a conversational level Vocalizes vowel sounds. “Coos”

6 months: Localizes sound at conversational level, laughs, 2 syllable sounds.

6 - 12 months: Turns to soft sounds. Babbles. Begins to imitate sounds. Vowel-consonant combinations: Ma Ma, Da Da, etc. begin at 7-9 months Uses sounds socially.

12 - 18 months: Single words. Gestures or points to familiar objects. Understands simple directions.

18 - 24 months: 2-3 word combinations. Many single words. Vocabulary burst. Understands sentences.

2 - 3 years: Sentences appear. Follows two step commands. Speech understandable 50% of the time at 2 years.

3 years: Descriptive speech. Asks questions. Responds to “wh” questions. Speech understandable  75% of the time.

4 - 5 years: Large vocabulary with little difficulty communicating with children and adults. Speech understandable all the time.

Common Causes of Speech and Language Disorders:

1. Hearing Impairment

There are three types of hearing loss:

(a) Conductive hearing loss reflects difficulty in transmission of sound waves to the auditory neural apparatus. Conductive hearing loss is common and usually due to transient middle ear problems, especially otitis media with effusions. 60 - 70% of children less than five years, at one time or another, are affected. It usually remits spontaneously. 10% of children have chronic problems associated with mild to moderate hearing loss affecting language development. Rarer causes include absent ear canal.

(b) Sensorineural hearing loss (SNHL) refers to a generally permanent hearing loss due to a defect in the cochlea, peripheral fibres of the eighth cranial nerve or the ascending CNS fibres of the auditory system. The incidence of SNHL is about 3/1000 in children.

Risk Factors for SNHL:

- Genetic – 50% of SNHL are genetic, most commonly autosomal recessive. 30% have a mutation in the Connexin 26 gene. - genetic syndromes 58

Med I – HD027

- Anatomic - Craniofacial

- Infections - In utero infections: rubella, CMV, toxoplasmosis - Meningitis - “Sick” Neonate

2. Mental Retardation/Developmental Delay

These individuals have delays in all areas of development. There are varying degrees and causes of mental retardation or developmental delay. Speech and language may be affected to a greater degree than other skills.

3. Autism

This is a condition where children present with severe impairment of verbal and non-verbal communication skills, social interaction skills, and a restricted pattern of interests and activities.

4. Neurological Problems

The production of speech involves coordination of the tongue, palate, jaw, larynx and diaphragm. Any condition affecting motor control such as cerebral palsy can affect speech production. Central nervous system disease or injury can affect the various language areas and pathways in the brain.

5. Anatomic Problems

Any condition affecting any of the elements involved in speech production can also cause difficulties such as cleft palate.

6. Deprivation and Neglect

A child learns verbal communication by imitation and being exposed to a stimulated environment. Lack of exposure and stimulation can lead to delayed language acquisition. Language is the area of development most negatively impacted by neglect.

7. Specific Language Impairment

Approach to Speech and Language Abnormalities:

1. Need an index of suspicion.

2. Rule-out hearing loss. The average delay between parental concern and diagnosis in severe to profound hearing loss is 6 - 12 months. No child is too young to refer for audiologic testing. Risk factors for SNHL such as a positive family history, presence of certain genetic conditions, neurological injury, malformation of head and neck, congenital infections and a history of a sick neonate should alert one to the possibility of hearing loss.

Med I – HD027

3. Decide if isolated speech and/or language problem vs a global problem and think of causes and possible differential diagnoses.

4. Address the possible complications depending on cause.

5. Refer to speech and language therapist, early intervention programs etc. as needed.

Implications of Hearing Loss on Development:

The impact of hearing loss is multifaceted and far reaching. Many factors affect outcome and each child has to be considered individually.

Factors Affecting Outcome:

1. Degree of hearing loss. 2. Etiology - many associated with other impairments. 3. Age of onset - pre-lingual/post lingual. 4. Family climate. 5. Intervention.

Effects of Hearing Loss:

1. Delayed/Impaired acquisition of speech and language. 2. Parenting/child rearing issues. 3. Psychosocial developmental problems and behavioral problems. 4. Educational challenges particularly in reading and abstract reasoning.

Management:

Habilitation should occur as soon as possible. Management is multidisciplinary and requires a coordinated approach.

Management Includes:

1. Treatment of medical causes - i.e. otitis media. 2. On-going audiologic assessments. 3. Early habilitation with hearing aids. 4. Speech - communication therapy. 5. Special education - pre-school and school age. 6. Address any other complication/problem.

Med I – HD027 60

Injury Prevention and Control University of Manitoba Faculty of Medicine Med I/HD028 Dr. L. Warda 2007

Objectives

Following this tutorial, the student will be able to: 1. Review and interpret injury-related data 2. Review injury prevention terminology and concepts. 3. Understand and use Haddon‟s Matrix for injury prevention. 4. Develop a working knowledge of basic injury prevention strategies including: child restraint, fire/burn prevention, choking, head injury and falls.

References These will be provided at the tutorial (four copies per tutorial group). Students may also find them online.

 The Clinicians Handbook of Preventive Services is available on the web at: www.ahcpr.gov (type the title in the search box and go to the Safety link)  The Rourke Baby Record, an evidence-based system of well baby and child care from birth to 5 years of age, was revised and updated in 2006 by Drs. Leslie and James Rourke of The College of Family Physicians of Canada in collaboration with Dr. Denis Leduc of the Canadian Paediatric Society. This record may be downloaded from www.cfpc.ca or may be ordered in hard copy from McNeil Consumer Healthcare at 1-800-265-7323.  Transport Canada‟s CarTime 1-2-3-4: http://www.tc.gc.ca/roadsafety/tp/tp13511/en/pdf/tp13511e.pdf  Health Canada‟s crib safety and children‟s sleepwear pamphlets: http://www.hc-sc.gc.ca/cps- spc/pubs/cons/index_e.html  Safe Kids Canada‟s fact sheets including choking and falls: http://www.cich.ca/PDFFiles/InjuryPreventionFactSheets/English/Chokingenglish.pdf http://www.cich.ca/PDFFiles/InjuryPreventionFactSheets/English/Fallsenglish.pdf ______

1. Review and interpret injury-related data Using the Health Canada data provided, answer the following questions: a) Injury is the leading cause of death from ___years to ____years. b) Injury is responsible for what number and proportion of deaths for i) Infants (less than one year of age) ______/______ii) Toddlers (1-4 years of age) ______/______iii) Children (5-9 years of age) ______/______iv) Children (10-14 years of age) ______/______v) Adolescents (15-19 years of age) ______/______

Injury Prevention and Control Med I/HD028

c) Injury is responsible for what number and proportion of hospitalizations for i) Infants (less than one year of age) ______/______ii) iii) Toddlers (1-4 years of age) ______/______iv) Children (5-9 years of age) ______/______v) Children (10-14 years of age) ______/______vi) Adolescents (15-19 years of age) ______/______Note: these data are available on the Public Health Agency of Canada‟s website: http://www.phac-aspc.gc.ca/publicat/lcd-pcd97/pdf/hos_mrt_e.pdf

Review the slide presentation and answer the following questions: 2. Review injury prevention terminology and concepts a) Define injury prevention.

3. Understand and use Haddon‟s Matrix for injury prevention. a) What are the three conceptual models you can use in identifying factors which contribute to injury, and therefore allow you to identify strategies for prevention?

1. 2. 3. b) Complete a Haddon‟s matrix to analyze the problem of bicycle injuries.

Host Agent Physical Socio-cultural Environment Environment Pre-event

Event

Post-event

Injury Prevention and Control Med I/HD028

4. Develop a working knowledge of basic injury prevention strategies including: child restraint, fire/burn prevention, choking, head injury and falls. Review the summary of injury prevention “best practices” from the Clinician’s Handbook of Preventive Services, 2nd Edition, 1998. a) Compare these guidelines to the Rourke Evidence-based Infant/Child Maintenance Guides (I and II). Is anything missing from the Rourke Guide? If so, what?

b) If you were a primary care physician in practice, using the Rourke guides, what additional information do you need to counsel on these safety topics effectively? Review the resources provided to see if your questions are answered (Transport Canada‟s CarTime 1-2-3-4, Health Canada‟s crib safety and sleepwear pamphlets, choking fact sheet, falls fact sheet, tap water scald brochure).

The School-Aged Child: “The Age of Industriousness” University of Manitoba Faculty of Medicine Med 1 / HD 030 Dr. J. Bow Clinical Health Psychology Objectives 4. Define latency. 5. Describe the intellectual, social & emotional development during this stage. 6. Explain the importance of this stage for shaping personality.

(A) Definition -Erikson‟s Developmental stage of “Industry vs. Inferiority” -Freud‟s “Latency” stage -Phase of life between 5 - 6 years and 11 - 12 years.

(B) Development During This Stage -development occurs gradually over time -development can be observed in the areas of intellect, emotional / affective functioning, and social functioning.

Intellectual Development - more “reasoning” -increasingly complex categories -better memories -the capacity to symbolize, fantasize

Emotional Development -emergence of defenses (e.g. repression) -emergence of “superego” -fading Oedipal feelings -increasing emotional control -increasing ability to delay discharge and gratification of desires

Social Development -increasing interest in social contacts outside the family -development of truly reciprocal friendships -emergence of social comparison as a means of self-evaluation

(C) Optimal Development at this Stage -attainment and maintenance of the psychological tasks of latency, above -results in enhancement of self-esteem and preparedness for the developmental tasks of adolescence -development of sense of competence, vs feelings of inferiority.

Developmental Delay: Mental Retardation University of Manitoba Faculty of Medicine Med I/HD032 Dr. A. Hanlon-Dearman 2007

OBJECTIVES: 1. Know the prevalence of developmental delay and the classification of mental retardation. 2. With integrated knowledge of normal development, be able to recognize the delayed child. 3. Be able to develop a logical approach to assessment and diagnosis. 4. Appreciate the spectrum of etiology including genetic causes of developmental delay. 5. Be aware of the impact of developmental delay on the child and his or her environment (home, extended family, school, community).

REFERENCES: 1. Nelson Essentials of Pediatrics, 5th Edition, 2006. Section II, Chapter 10. 2. Walker, WD and Planche-Johnson, C. “Mental Retardation: Overview and Dx”. Pediatrics in Review, 2006. Vol. 27(6), pgs. 204-212 (on reserve in the library) 3. Lemay, JF, Herbert, A and Dewey, DM. "A Rational Approach to the Child with Mental Retardation for the Paediatrician", Paediatrics & Child Health 2003; Vol. 8(6), 345-356 (on reserve in the library)

DIAGNOSTIC CRITERIA:

Diagnostic criteria/definitions are provided by both the DSM-IV and the American Association of MR (AAMR).

1. Significantly sub-average general intellectual functioning; an IQ 70 or below on an individually administered IQ test. 2. Concurrent deficits or impairments in adaptive functioning. 3. Onset before the age of 18.

The AAMR definition of Mental Retardation is provided in Figure 1. Note the language which emphasizes adaptive functioning and recognizes cultural assumptions essential to the appliation of the definition.

CLASSIFICATION OF SEVERITY:

Sir Francis Galton, a first cousin of Charles Darwin, postulated that intelligence was quantifiable and normally distributed. Psychometric tests were developed in France by two physicians, Alfred Binet and Theodur Simon, in 1905. Intelligence quotients (IQs) which resulted from these tests were considered an accurate measure of intelligence.

Intelligence is described following a bell-shaped curve with a mean of approximately 15. An IQ score of 2 standard deviations below the mean (70) along with an assessment of adaptive function, currently defines mental retardation. Four degrees of severity are described using DSM-IV Diagnostic Criteria (APA, 1994). (See Table 1)

Developmental Delay: Mental Retardation MED I – HD032

ETIOLOGY:

Estimates of etiologies are subject to change according to recent medical advances, and vary according to population sampled. Multiple etiologies reflect a complex interaction involving genetic predisposition, environmental insults, plus developmental vulnerability.

The more severe the degree of mental retardation, the greater the likelihood a specific cause will be found in a 1981 study by Hagberg & Kyllerman – 80% of those with severe MR have an organic cause; a medical risk factor can be identified in about 40% of those with mild MR. The rate of MR is reportedly higher in males, likely reflecting the presence of X-linked MR plus increased rates of congenital anomalies in males.

ETIOLOGIC CLASSIFICATION OF MENTAL RETARDATION: (Adapted from AAMR, 1992)

I. Prenatal Causes:

a) Chromosomal Disorders (including x-linked MR) b) Syndrome Disorders - e.g neuro-cutaneous, muscular, craniofacial, skeletal disorders c) Inborn Errors of Metabolism – e.g. amino acid disorders, carbohydrate disorders, mitochondrial disorders. d) Developmental Disorders of Brain Formation - e.g. neural tube closure defects, brain formation and cellular migration defects, intraneuronal defects, acquired defects e) Environmental Influences – e.g. intrauterine malnutrition, drugs and toxins, maternal disease, irradiation.

II Perinatal Causes:

a) Intrauterine Disorders – e.g. acute placental insufficiency, abnormal labour and delivery, multiple gestation. b) Neonatal Disorders – e.g. hypoxic ischemic encephalopathy, intracranial hemorrage periventricular leukomalacia, neonatal seizures, infection, head trauma, metabolic disorders.

III Postnatal Causes:

a) Head injuries b) Infections – e.g. encephalitis, meningitis, parasitic c) Demyelinating Disorders d) Degenerative Disorders – e.g. syndromic, poliodystrophies, basal ganglia disorders, leukodystrophies, sphingolipid disorders. e) Seizure Disorders – e.g. infantile spasms, Lennox-Gastalt Syndrome f) Toxic Metabolic Disorders – e.g. Reye Syndrome, lead, mercury g) Malnutrition h) Environmental Disorders 66

Developmental Delay: Mental Retardation Med I – HD032

ASSESSMENT/DIAGNOSIS:

Early identification of mental retardation relies on a combination of information from parental concerns, medical and developmental history, physical and neurologic exam and developmental screening or assessment.

History

It is critical to differentiate static delay from a progressive disorder. A history of a plateau or loss of milestones suggests a progressive disorder and should result in a referral for a neurological/metabolic work-up. Historical risk factors should be identified (See Table 2)

Review of the child's developmental should focus on the 5 domains of development: gross motor, fine motor, adaptive, language, personal-social.

Physical exam: Physical exam should be complete, including growth parameters. Certain features of the physical appearance including dysmorphic features, congenital abnormalities, microcephaly and skin abnormalities may provide clues to genetic or familial conditions associated with mental retardation. (See Table 3)

Neurological Exam:

The neurologic exam should include each of the elements of a classic neurological exam with emphasis on head circumference even in older children (provides information on abnormalities of brain growth), focal abnormalities or lateralizing features (eg. tone, power, deep tendon reflexes), persistence of primitive reflexes (eg, Moro), abnormal movements or postures.

Developmental Exam:

Many tools for standardized assessment of preschool children are available. Many of these measures are associated with drawbacks including excessive time for administration, extensive tools or training required for administration and lack of applicability to population under consideration.

An effective means of screening the child's development is by the administration of a developmental screening or surveillance tool. (See Table 4)

When screening efforts suggest the presence of significant developmental lags the physician should take responsibility for co-ordinating further assessments including a referral for formal developmental, psychological, educational social/environmental assessments by skilled evaluators.

Developmental Delay: Mental Retardation Med I – HD032

Lab Investigations/Referrals

The direction of the search for the cause of the mental retardation relies on the information obtained from the history, physical, neurologic and developmental exams (see Table 5). Most studies report a higher diagnostic yield in children with more severe degrees of retardation. A range of specialists may be involved including pediatricians, neurologists, geneticists, psychiatrists, psychologists. Patterns of lab investigation continue to vary depending on the specialist investigating the child. However, chromosomal analyses (at 500 band level or greater) and fragile-X screen are commonly done. Neuroimaging may be considered as may a metabolic screen. Investigations should include sensory evaluations due to the increased prevalence of deficits in vision and hearing in children with mental retardation.

Children with neuromuscular disorders (example muscular dystrophy) have significant findings on neuro exam (hypotonia, weakness, contractures) in addition to motor delay. Specialized lab investigations, ie CK, EMG, nerve conduction studies, muscle biopsy, will assist in making the diagnosis. Many of these children have normal mental development but may still be at risk for learning disabilities. Assessment of language skills is critical in differentiating this group of children from those with primary mental retardation. The developmental impact of vision and hearing loss can be severe and warrants close assessment of sensory function in all children presenting with developmental delay.

PARENTAL REACTION TO DIAGNOSIS

Once parents are informed of their child's diagnosis, they can exhibit a variety of responses. The reactions can include: 1. Grief 2. Loss of self esteem 3. Guilt 4. Anger 5. Denial 6. Social withdrawal and isolation 7. Rejection of the child 8. "Chronic sorrow" or mourning of the loss of a perfect child

MANAGEMENT:

The physician should: 1. Monitor for associated medical problems plus comorbidities, e.g. behaviour problems and mental illness, motor impairments, sleep disorders, seizures, hearing, vision, complications of treatments or medication. 2. Know: i) resources in the community for treatment programs for preschool children with developmental disabilities, e.g. Children‟s Special Services, Provincial Outreach Therapies for Children, Rehab j) Centre for Children, St. Amant Centre, Society for Manitobans with Disabilities, Children with Disabilities Grant through the Day Care Office ii) specialized programs for children with specific diagnoses such as Autism Outreach Program, Fetal Alcohol Syndrome Program 3. Know how to advocate for child within school system (Special Education Resources) and vocational areas. 4. Be open to discussion re: marital, family, sibling issues. Know family supports in community including 68

Developmental Delay: Mental Retardation: Med I – HD032

counselling, respite, parents support groups, placement options, non-traditional treatments as required. 5. Participate as part of an interdisciplinary team. The breadth and quality of services required to serve the children and their families appropriately requires a team of professionals from many disciplines.

Figure 1

The AAMR Definition of Mental Retardation

Mental retardation is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills.

This disability originates before age of 18.

Five Assumptions Essential to the Application of the Definition

1. Limitations in present functioning must be considered within the context of community environments typical of the individual‟s age peers and culture.

2. Valid assessment considers cultural and linguistic diversity as well as differences in communication, sensory, motor, and behavioral factors.

3. Within an individual, limitations often coexist with strengths.

4. An important purpose of describing limitations is to develop a profile of needed supports.

5. With appropriate personalized supports over a sustained period, the life functioning of the person with mental retardation generally will improve.

Child in Need of Protection University of Manitoba Faculty of Medicine Med I/HD033 Dr. D. Lindsay 2007

Objectives:

1. Define a child in need of protection. 2. Describe the legal obligations of the physician. 3. Describe how and to whom to report abuse. 4. Describe some of the features of physical injuries which are seen in abusive injuries

OTHER HANDOUTS WILL BE PLACED IN STUDENT MAILBOXES PRIOR TO SESSION

Well Child Care: Common Childhood Concerns University of Manitoba Faculty of Medicine Med I/HD035 Dr. M. Collison 2007

Objectives:

At the end of this two-hour tutorial, the student should be able to:

1. Suggest a tool to use to assess the developmental level of a child from two - five years of age.

2. Identify three common behavioural problems of childhood.

3. Describe a simple discipline measure for a toddler.

4. List routine immunization needs of the preschooler.

5. Name three common food allergies.

6. Understand the principles of the Canada Food Guide.

7. List four common childhood illnesses associated with rash.

References: (exam questions do not come from the references)

1. Nelson Essentials of Pediatrics, 5th Edition, 2006.

2. Canada Food Guide – Health Canada,

Available at: www.hc-sc.gc.ca/fn-an/food-guide-aliment/review-examen/index_e.html

3. 1 2 3 Magic Video - Parenting Video (available at libraries, video stores)

4. Car Seat Safety – current guidelines (available at Transport Canada website www.tc.gc.ca/roadsafety)

Well Child Care: Common Childhood Concerns HD035

SCENARIO #1

Crystal is a 30-year-old single mother of three children: Ashley 8, Amanda 4 and Dustin 2½ . Crystal found parenting an enjoyable experience until Dustin came along. She finds him much more difficult than his siblings. He refuses to have a nap. He is into everything. He will throw himself onto the floor and scream and bang his head 50 times if he is upset. She frequently loses her cool and gives him a good “smack”. This will quiet him down for a little while and then he is right back “raising hell”. Dustin is very aggressive with his older siblings and will kick and bite them if angry. He is very “hyper” and difficult to control. On trips to St. Vital Mall he has gotten lost twice. Crystal feels like she is “losing it” and wants Dustin put on a tranquilizer.

1. Describe this parent-child interaction. Is it normal?

2. What pertinent questions should be asked when taking this history?

3. Describe an alternative form of discipline to “smacking”.

4. a) Are you concerned about the head banging? What advice would you give?

b) How about the “hyperactivity”?

5. a) How can you help Crystal?

b) Would you use medications?

Well Child Care: Common Childhood Concerns HD035

SCENARIO #2

Joshua is a three-year-old boy who presents to your office for an annual physical exam. He has been generally been well. You have been Joshua‟s physician since his birth. Joshua‟s mother is a professor of English Literature. Joshua‟s father s a stay-at-home Dad. They are very concerned that Joshua has begun to stutter and that he still does not know his ABC‟s. The parents are wondering if his development is normal. In addition he is still wetting the bed at night although he has been toilet trained since two years of age. He is riding a tricycle, ascends stairs and does simple puzzles.

His mother, who was on the U of M swim team, wants him in swimming lessons. Joshua is refusing to get into the water. Joshua‟s Dad thinks his wife is “expecting too much”. Joshua‟s Mom feels her husband is too protective. Joshua is still on the bottle at bedtime and wears “pull-ups” at night.

The Dad is a junk food maniac and the mother is a strict vegetarian (no meats, no dairy). You can see these parents have very different parenting styles and that they openly disagree in front of Joshua.

1. How can you assess Joshua‟s physical well being and growth? Describe three easy screening procedures for a three year old.

Using points from the history:

2. What do you think of Joshua‟s developmental level? What other ways could you assess his development?

3. Are you concerned about the stutter?

4. Describe safety issues re the swimming lessons. List five other safety issues you would like to discuss with these parents.

5. What is a healthy diet for a three year old? Name one resource material you could look at.

6. How would you advise the parents about their differing parenting style?

Well Child Care: Common Childhood Concerns HD035

SCENARIO #3

Jared is a four-year-old boy. He stepped on a dirty, rusty nail at the farm two days ago causing a minor puncture wound to his left heel. He has never been immunized because his father does not believe in immunizations.

You note that he has arrived to the clinic on the back of his father‟s motorcycle – but was not wearing a helmet. His Dad takes him everywhere with him, including his office, where he spends four hours/day watching TV and playing Nintendo.

His father is quite concerned that he is very small for height and weight.

1. How many immunizations has this child missed? Name them? If you could give one immunization today, what would it be? What are the side effects? If Father refuses, what do you do?

2. In what activities should a child wear a helmet?

3. How would you street-proof this child?

4. What advice would you give re:

a) TV viewing

b) interaction with other children

5. How would you address father‟s concern re height and weight?

Well Child Care: Common Childhood Concerns HD035

SCENARIO #4

Marissa is a bright and healthy five-year-old child presenting for her pre-school booster. Her Mom is concerned because she broke out in hives after eating lobster.

Other concerns are that she sits very close to the TV. Marissa also refuses to have a nap in the afternoon and so is “ready for bed” at 7:00 pm. Mom is wondering if she needs vitamins.

Her mother describes her as very bright. She already reads and Mom is wondering if she should skip Kindergarten and go into Grade One. You know this family well and remember that an older sibling developed a school phobia in Grade Two.

1. Describe four screening procedures in your physical exam.

2. What do you make of the rash after eating lobster? Any referrals?

3. What immunizations does Marissa get today?

4. Are you worried about her eyesight? How would you check on this?

5. Does Marissa need a nap? Does she need vitamins?

6. How do you assess her development? How could you test her development?

7. What do you think of her school readiness? What is a school phobia?

Well Child Care: Common Childhood Concerns HD035

SCENARIO #5

Joey is a two-year-old boy who attends day-care. The parents have a number of concerns. In particular they feel he gets too many colds. He has had eight colds in the last year. He has developed a “wheezing” on two occasions. He had a “bark-like” cough on another occasion.

Last week Joey had a fever of 40C for three days and then developed an erythematous, macular rash from head to toe. Now he seems fine.

They know he is a great eater. In fact they are beginning to think he is too fat.

1. a) What do you think about Joey‟s colds? Is he having too many?

b) What might the “wheezing” be?

c) What might the “bark-like” cough be?

How could you investigate these coughs?

2. What do you think the fever following by the rash was? Can you name the five “historical” rashes of childhood?

3. How would you assess if Joey were too fat?

University of Manitoba Effects of Chronic Illness on the Faculty of Medicine Adolescent MedI/HD036 Dr. R. Woodgate 2007-08

The prevalence of adolescents living with a chronic illness or disability has increased markedly in the last century. Additionally, treatment recommended for managing chronic has intensified. Understandably living with a chronic illness can be a challenge for adolescents. Not only must adolescents deal with events specific to the illness and its treatment, but also deal with the challenges related to everyday life (e.g., education and employment, family relationships, peer relationships) as well as major developmental changes and demands. A multitude of feelings such as anxiety, fear, sadness, and hopelessness may engulf the adolescents with chronic illness as they try to manage their chronic illness while trying to get on with their daily lives. Learning about what it is like to experience chronic illness during adolescence is of value for those health professionals striving to provide more sensitive and comprehensive care to chronically ill adolescents.

This overall aim of this lecture is to gain a better understanding of the adolescent experience of chronic illness. Research that seeks to describe the perspectives of chronically ill adolescents forms the foundation for this lecture. Lecture objectives include:

1. Identify psychosocial challenges faced by chronically ill adolescents and their families.

2. Understand and recognize from the adolescent‟s perspective what it is like to have a chronic illness.

3. Identify how adolescents cope with chronic illness.

4. Identify how physicians can best care for chronically ill adolescents.

5. Understand and recognize how the transition from pediatric-oriented care to adult-oriented care can best be achieved for chronically ill adolescents.

Challenges:

∙Body image and sense of self challenges – Chronic illness has the potential to intensify body image concerns and can impact on the adolescent‟s developing sense of self. ∙Independence – Chronic illness can interfere with the increasing independence experienced by adolescents. ∙Relationships with family – Chronic illness can lead to changes in family roles and relationships as well as cause additional stress. ∙Relationships with peers – Chronic illness can interfere with the time spent with peers and the shift away from family to peers. ∙School issues – Chronic illness can interfere with the adolescent‟s progress in school which can be source of much stress for adolescents. ∙Employment issues – Chronic illness can interfere with present and future employment 77

Effects of Chronic Illness on the Adolescent HD036 aspirations.

∙Sexuality – Chronic illness can heighten the concerns that adolescents have about sexuality. ∙Death and dying issues - Chronic illness can heighten concerns about death and dying in the adolescent. This includes concerns about their own mortality as well as losing friends with the same illness.

Adolescents’ Assigned Meanings (from the perspectives of adolescents): ∙It‟s Hard - Chronic illness makes life a lot more difficult with increased hardships. ∙It Takes Extra Effort ∙It‟s Restraining – The chronic illness experience results in limitations and restrictions. ∙It‟s Painful – The chronic illness experience results in distress and suffering. ∙It‟s a Whole Bunch of Worries

Coping Strategies (from the perspectives of adolescents): ∙Accept the illness ∙Take responsibility ∙Know what to expect ∙Hang in there → have the right attitude ∙Take one day at a time ∙Take time for yourself → Do not make it your number one priority ∙Stay connected ∙Believe in yourself

Best Care Practices (from the perspectives of adolescents): ∙Treat me like a person ∙Try to understand ∙Respond to me like I am the same person, but treat me special at times ∙Give me hope ∙Give me options ∙Have a sense of humour ∙Do not give up on me ∙Know what you are doing

Elements Necessary to Ensure Successful Transitions: ∙Adolescent support ∙Family support ∙Professional and environmental support including an interested and capable adult service, primary care involvement, administrative support, management links ∙Professional sensitivity to the psychosocial issues of chronic illness ∙A policy on timing of transfer ∙A preparation period and education program ∙A coordinated transfer process→transition map

Developmental Disabilities: Motor Impairment University of Manitoba Faculty of Medicine Med I/HD039- 2007 Dr. G. Rempel

OBJECTIVES: At the end of the session the student will be able to:  Define motor impairment and three of its consequences to a developing child  List three impairments commonly associated with motor impairment and discuss their impact  Describe the importance of early diagnosis of motor impairment and three intervention strategies.  Describe the impact of motor impairment on integration into society

MOTOR IMPAIRMENT refers to dysfunction of normal movement which occurs due to damage of the: Central Nervous System resulting in inability to control and direct movement appropriately. Examples include:  Cerebral Palsy: a non-progressive condition is caused by damage to a developing brain that results in abnormalities of motor function and tone (spasticity or hypotonia).  Spina bifida: separation of the bones in the spinal column. Often associated with meningomyelocoele, which is a fluid filled sac that protrudes from the defective spine and may contain a malformed spinal cord. The nerves below the defect may fail to develop leading to paralysis and lack of sensation. The defects vary in severity depending on the level of the lesion.  Spinal Muscular Atrophy: degeneration of nerve cells in the spinal cord causing weakness and poor motor control. Muscles causing weakness as seen in Muscular Dystrophies and Myopathies. Joints causing difficulty moving as seen in Arthritis.

DEVELOPMENT OF MOTOR SKILLS: Normal motor development occurs in an ordered sequence from head to foot. A baby first learns to hold its head. This facilitates visual interaction and visual exploration of the environment. Trunk stability must be gained before reaching can occur and for sitting to be learned. Stability of the head, trunk and legs precedes standing. With every motor task, stability of certain parts of the body and ability to isolate a movement and hold it precedes mobility. Motor tasks are learned by gaining control of and integration of reflexes, which are sometimes called primitive reflexes or central pattern generators. In a typically developing infant, these are present early in the infant’s life and generally persist for approximately 6 months (Moro, grasp, asymmetric tonic neck, and stepping response). At first, reflexive movement dominates the movement patterns, but as the brain matures, primitive reflexes are gradually suppressed. With time, development and learning from the environment, these are harnessed into smooth motor patterns. To walk a child must be able to maintain upright posture and move forward in a smoothly coordinated manner at the same time. If the developing child has impairment in motor function, this sequence may be altered. This may negatively impact on cognitive development and independence, as many developmental tasks are learned by exploring and interacting with the environment. In children with motor skill dysfunction, it is important to know whether the motor skill dysfunction is due to a neuromuscular abnormality or whether it is consistent with delays in all areas of development. Cognitive development and impairment of the special senses have significant impact on motor skill development. However, in children who have impairment of cognition or of the special senses, but normal motor pathways, the development of motor skills may be delayed but follows the regular developmental sequence.

PREDICTORS OF MOBILITY: Early factors that may predict prognosis for ambulation include the cause of the motor impairment and the age at which sitting is attained. If the child has attained sitting balance by age two, the prognosis for community ambulation is good. If however, the child has extensive impairment involving all limbs, has persistence of the primitive reflexes and demonstrates the absence of postural reactions, community ambulation is unlikely. Children with spina bifida with lesions close to the bottom of their spines (sacral or lumbar regions) have a 79

Developmental Disabilities Med I/HD039

better prognosis for ambulation than those with higher or larger lesions. Braces and crutches may be required to walk. The extent of braces and supports needed to walk becomes more extensive the higher the lesion. Generally those who learn to walk despite the lesions are those without cognitive impairment with a high level of commitment to learning this skill reinforced by strong family supports. Wheelchair mobility is required for efficient movement in children with higher spinal cord lesions.

ASSOCIATED IMPAIRMENTS: If a child has one impairment there may be other impairments as well:  Cognition  Special Senses: sight, hearing  Seizures, hydrocephalus  Speaking, feeding and swallowing may be impaired when the muscles and nerves responsible for coordinating these functions are affected. This can result in drooling, malnutrition and aspiration of the food into the lungs  Musculoskeletal deformities, especially the hips and spine. Spinal deformity can impair respiratory function  Respiratory problems: Muscle weakness can lead to poor expansion of the lungs, poor coughing impairs respiratory clearance and can result in respiratory compromise and recurrent respiratory infection

TREATMENT AND INTERVENTION FOR CHILDREN WITH MOTOR IMPAIRMENT  Multidisciplinary approach is central to intervention: developmental pediatricians, orthopedic surgeons, neurologists, physical medicine specialists, physical&occupational therapists, speech-language clinicians, psychologists, dietitians, social workers, educators  Early intervention  Physical activity, movement, therapy to maintain range of motion, decrease contractures  Adapted equipment  Spasticity management  Surgery to correct deformity, lengthen tendons, replace dislocated joints and stabilize spinal deformities

THE IMPACT OF MOTOR IMPAIRMENT ON INTEGRATION INTO SOCIETY Motor impairment can have a significant impact on the development, as children learn from when they move and explore. Provision of devices that allow independent mobility (such as motorized wheelchairs, walkers, braces) is very important to facilitate a child’s overall independence and development. Children with motor impairment may be infantilized by their care providers, which can lead to life-long dependence and overprotection even if the individuals have the other skills required for independence. Though motor disability may be overcome by intervention, the impact of the disability on the development of the child as an independent person may be more difficult to conquer. Societal attitudes, lack of access to equipment that minimizes the child’s motor disability and physical barriers all contribute to making the motor impairment a handicap. The educational and socialization needs of children with motor impairment may be poorly addressed in our society. This may affect adjustment to society and negatively impact self-esteem. The higher the intelligence of the individual, the more difficult this adjustment may be. On the other hand, the higher the cognitive function, the greater the likelihood of strong motivation and peer learning.

80 Depression and Anxiety of Childhood and Adolescence HD 040

Objectives: At the end of this presentation students will have an increased understanding of 1. the frequency anxiety and depressive disorders in youth 2. the clinical picture of some of the anxiety and depressive disorders and how they differ from the same disorders of adulthood 3. the difference between a normal mood, a symptom and a syndrome 4. how these disorders affect the development of children Historically, medicine minimized or denied the existence of anxiety and depressive disorders in childhood. We thought of childhood as a happy, carefree and idyllic period of life. We believed that children could not possibly suffer from mental disorders that affected adults. We did recognize that adolescent had emotional problems. But, adolescence was considered „a normally unstable‟ period of life. It was accepted and thought that all adolescents went through a period of „turmoil‟ before they grew up. Over the past 30 years we now recognize that children and adolescents suffer from the same depressive and anxiety disorders that affect adults, and that major mental illness often begins in childhood and adolescence.

ANXIETY DISORDERS OF CHILDHOOD AND ADOLESCENCE What is anxiety? Anxiety is defined as an unpleasant emotion (described as being “afraid”, “scared”, or “nervous”) which is associated with a sense of impending danger (we feel that something terrible will happen in the future) and occurs in the absence of a recognizable adequate external threat. Anxiety is fear occurring in the absence of danger, an objectless fear. Anxiety may be accompanied by numerous somatic symptoms such as a lump in the throat, a sense of constriction in the chest or butterflies in the stomach and autonomic disturbances e.g., tachycardia, palpitations, dry mouth, sweating, frequency of micturition or diarrhea.

What is a panic attack? A discrete period of intense apprehension or fear („terror‟) occurring in the absence of an adequate cause and which is associated with palpitations, sweating, a sense of constriction in the chest, dyspnoea, choking, dizziness, vertigo, paraesthesiae, hot and cold flashes, shaking and clouded thinking. Patients are afraid that they will drop dead of a heart attack or that they are going out of their mind. Full, classic panic attacks are rare in childhood but become more common the onset of adolescence with sexual maturity.

What is a phobia? A phobia is an excessive fear of an object or a situation. The sufferer recognizes that it is irrational, tries to overcome it but cannot and whenever possible he avoids the fear arousing object or situation.

Throughout their development, children may display common, brief fears that they outgrow without any required treatment. A few have severe incapacitating phobias (fear of school, animals, darkness, heights, disease, and dirt) that require treatment. Adolescents commonly report a variety of fears, including fear of heights, fear of public speaking, blushing, excessive worry about past behaviour, and self-consciousness(1).

DSM-IV(2) classifies phobias into three major categories: 1. Specific phobias include: - Animal phobias: Some animal phobias e.g., fears of snakes are universal. Fear of dogs, spiders, etc. usually start in childhood, are usually isolated disturbances that do not interfere

81 Depression and Anxiety of Childhood and Adolescence HD 040

with one‟s life and rarely require treatment. Some persist into adulthood. - Phobias of the natural environment e.g., fear of water, heights and storms. In a family they may spread by psychological contagion. - Blood-Injection-Injury phobias. Fears of blood and needles may interfere with a child‟s dental, physical and psychiatric care. These phobias are frequently familial and associated with fainting. Children with this type of phobia do not become surgeons. - Phobias of a variety of situations such as flying, heights, elevators, enclosed spaces, driving. 2. Social phobias (or Social Anxiety Disorder) is an excessive fear of being embarrassed in a social situation e.g., public speaking (stage fright), participating in group discussions, dating, and going to a party. Children with social phobia are shy, lack in confidence, shrink from contact with others, do not participate in group activities, are terrified of having to present in front of a group or take a test, and may underachieve academically. Some children with Selective Mutism (children who are mute at school but speak normally at home) probably have a form of social phobia. 3. Agoraphobia is a fear of crowds. The ancient Agora located on the Acropolis, was both the place of assembly (the Legislative Building) and the market place (the shopping mall), and was always a very crowded place. Agoraphobic patients are afraid to go out unaccompanied; they are afraid of crowds, shopping centres, buses and travelling. Unlike adults, children do not usually have to go shopping unaccompanied, but they have to go to school. School phobia is the agoraphobia equivalent of childhood.

Separation anxiety disorder is specific to childhood and occurs when a child develops intense anxiety to the point of panic, as a result of being separated from a parent or another loved one – most often mom. The disorder usually develops in children who are conscientious and well behaved and come from close-knit families. It may develop acutely after a psychological stress e.g., death of a grandparent, moving to a new neighbourhood and a new school, or after a medical condition e.g., operation, measles, the flu or it may develop just “out of the blue”, for no apparent reason.

The anxiety is intense and interferes with the patient‟s normal activities. He is afraid to leave home unaccompanied and go on an errand e.g., to the local grocery store. The patient may also be afraid to go to school (school phobia), sleep overnight at a friend‟s home or go to summer camp. At home he clings to the parent or dad and follows her around like a shadow. The child may be afraid that the parent will get sick and die or someone will kill her or that the parent will mysteriously or tragically disappear. However, this diagnosis is not appropriate if the parent may indeed be in such danger.

As well, the school phobic complains of numerous somatic symptoms. He has headaches, stomaches, dizziness and other pains and aches; he feels tired. He has difficulty going to sleep alone and may try to sleep with his parents. If they refuse to let him sleep in their bed he may sleep on the floor next to their bed, or on the floor just outside their bedroom.

Symptoms of depression or of a generalized anxiety disorder or both are frequently present. In about twenty per cent of patients the mother is also depressed. She worries excessively about her child. She keeps him at home, preferably in bed whenever there is the slightest hint of a cold or some minor allergy. She clings to her child as much as he is clinging to her. Separating the two, even

82 Depression and Anxiety of Childhood and Adolescence HD 040 temporarily, becomes a very difficult task, and the disorder takes on an asystemic/familial expression.

When school phobic children are followed up into adulthood (their thirties) we find that many are still living with their parents, have few social contacts outside their immediate families, and they continue to see a psychiatrist(3).

Types/causes of anxiety:

1. A normal state. Nearly all children have fears that vary with age. For example, young children are afraid of strangers, monsters, animals, the bogeyman. These fears are not considered as phobias as they do not interfere with a child‟s life and they subside, as the child grows older. 2. A symptom of a general medical condition. The psychological effects of a Generalized Medical Condition such as epilepsy, cardiac arrhythmias, bronchial asthma, phaeochromocytoma, hypoglycaemia, hypocalcaemia, or thyroid disease may be expressed as an anxiety disorder. 3. Induced by a substance, either as a symptom of intoxication or withdrawal. Excessive ingestion of caffeine (coffee, tea, Mountain Dew, Coke), over the counter medications (cold remedies, antihistamines, cough syrup) prescription drugs (sympathomimetic amines, indomethacin), some psychotropic drugs (major neuroleptics) and illicit drugs (LSD, marijuana, ecstacy, mushrooms, etc.) may cause symptoms of anxiety. Use of cocaine may cause panic attacks, or panic attacks and panic disorder that continues even after use of the drug has been discontinued(4). Abrupt withdrawal from alcohol or sedative and hypnotic drugs (diazepam, lorazepam) may be followed by intense anxiety.

4. A symptom of other mental disorder such as schizophrenia. 5. A syndrome. When the above four are excluded we are left with a group of mental disorders in which primary symptoms of anxiety dominate the clinical picture. The aetiology of the idiopathic type is poorly understood, and probably involves and interplay of hereditary, biological, psychological and sociocultural factors. Behavioural inhibition with shyness, fear and a tendency to withdraw in response to new situations are enduring traits linked with the development of anxiety disorders of childhood. Insecure attachment to parents may be related to such behavioural inhibitions.

Treatment of Anxiety Disorders

First we treat any associated medical illness or substance abuse. We treat most patients with a combination of medications and psychotherapy of the patient and the family.

Medications include: 1. the antidepressants, most often the selective serotonin reuptake inhibitors e.g., fluoxetine (Prozac) and 2. the benzodiazepines e.g. lorazepam sublingually PRN for panic attacks.

Behaviour therapy or cognitive-behaviour therapy are 2 of the psychotherapies commonly used. No matter what the specific type of therapy the patient is encouraged to gradually face the

83 Depression and Anxiety of Childhood and Adolescence HD 040

phobic object. Often, family therapy and social interventions are often used to enhance decreased problems.

DSM-IV Anxiety Disorders

Several types of mental disorders are classified as anxiety disorders in the 4th edition of the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM-IV). They include: 1. Panic Disorder 2. Panic Disorder with Agoraphobia 3. Agoraphobia without history of Panic Disorder 4. Specific Phobia 5. Social Phobia 6. Generalized Anxiety Disorder 7. Obsessive Compulsive Disorder 8. Acute Stress Disorder 9. Post Traumatic Stress Disorder Separation Anxiety Disorders are discussed separately

DEPRESSION OF CHILDHOOD AND ADOLESCENCE

Depressive disorders are not uncommon in childhood and adolescence. Approximately 1% of preadolescents and 2-3% of adolescents suffer from a clinical major depression at any one time(5-6).

Parents are often not aware that their children are depressed. Many children cover up and hide their depression because they do not want their parents to worry about them or because they think that, “they do not understand…nobody really cares”.

Recent epidemiological studies are showing that depression is becoming more common and that both unipolar and bipolar depression is now starting at a younger age(7).

A normal state, a symptom, a syndrome, or a disease?

The word depression means different things to different people. Even professionals use the word loosely. Depression is sadness, unhappiness, and normal grief – a mood that we all experience in response to things that trouble us. We talk of depressing weather, depressing international news and depressing family problems. Almost all of us recognize the feeling as common, even as an inevitable aspect of living and do not run to a therapist or the family doctor merely to complain that we are unhappy.

The word depression is also used to describe a symptom associated with other medical or psychiatric disorders. For example, patients who suffer from schizophrenia, or epilepsy, or chronic debilitating diseases such as rheumatoid arthritis, cancer, hypothyroidism, infectious mononucleosis, or who are being treated with certain medications (e.g., antihypertensive drugs) or who are abusing alcohol or drugs often experience depression. We call this type of depression secondary depression(8),

84 Depression and Anxiety of Childhood and Adolescence HD 040 or depression due to a medical disorder.

Finally, the word depression is used to describe a clinical syndrome (a disorder or disease) with characteristic symptoms, course, outcome, and response to treatment.

The symptoms of depression:

Children and to a lesser extent adolescent may have significant difficulty describing their depression. It should be pointed out, however, that many adults have just as much difficulty articulating this painful and confusing state of mind.

A list of the symptoms of depression commonly encountered include: - low, sad or irritable mood, or just feeling empty, („life sucks‟) - loss of interest and lack of pleasure in one‟s usual activities, („school is boring…everything is boring‟) - lack of drive, (“tired”, “weak”, “no energy”, “no vim and vigor”) - agitation or psychomotor retardation (slowing of movements and of thinking) - disturbances of appetite (loss of appetite and weight, or overeating and weight gain) - disturbances of sleep (insomnia or over-sleeping) - feelings of inadequacy and guilt, („I am stupid‟, „a bad student‟, „I am fat and ugly‟, „I have committed mortal sin‟, „I deserve to feel this way‟) - inability to concentrate, absent mindedness, forgetfulness and indecisiveness - hopelessness, preoccupation with suicide, death and dying, and suicidal attempts - may have auditory or visual hallucinations or delusions (psychotic depression) (Symptoms in bold are more common in children and adolescents)

NB. Somatic symptoms such as headaches, stomachaches, other pains and aches, dizziness and a variety of other somatic symptoms are common in depression of childhood and adolescence but they are not included as diagnostic criteria in DSM-IV.

Depressed youngsters usually withdraw from their friends, spend most of their time alone listening to music or watching TV, cling to their parents, are reluctant to go to school, drop out of sports and do poorly in their studies.

Many adolescents present following a suicide attempt. Suicidal thoughts and suicidal attempts are less common before puberty. Adult patients with depression usually eat less and sleep less. Adolescents with depression usually eat more and sleep more.

In young people we rarely see the classical insomnia with 4:00 a.m. wakening, characteristic of the severe depressions of older patients (melancholia)(9-10). Oversleeping or somnolence is much more common in depressed adolescents, they often have difficulty waking up in the morning to go to school. On the weekend, they spend most of the time in bed.

Depression is now more readily diagnosed than twenty years ago. Instead of labeling children as conduct disorder, school phobia, somatization disorder or some other psychiatric disorder, we now diagnose many of these children as suffering from depression. Unfortunately, we still fail to recognize

85 Depression and Anxiety of Childhood and Adolescence HD 040 depression in many children and see them as „bad‟, „lazy‟ kids or „small hypochondriacs‟ such stigma impair both the diagnosis and attempts for treatment of children and adolescents.

Mild chronic depressions – Dysthymic Disorder.

Dysthymic Disorders are milder, partial chronic depressions lasting more than one year (more than two years in adults). They are not uncommon in children. Parents will often say that their child „has always been sad‟ or that after a few years of normal development or of hyperactivity, he became depressed and has remained so for several years.

Children with dysthymia show more general social impairment than those with major depression(11) and they are more likely to be seen as being „bad‟ children. Obviously a short-lived debilitating illness such as major depression may cause less disruption of a child‟s development than the milder but long lasting disturbance of dysthymia.

Types of Mood Disorders

PRIMARY UNIPOLAR DISORDER (recurrent depressions) SECONDARY (to other conditions) MOOD DISORDERS PRIMARY BIPOLAR DISORDER (mania or hypomania, with severe depression) SECONDARY (to other conditions)

Causes. The aetiology of major depression and dysthymic disorder is poorly understood. It is probably due to an interlay of hereditary, biological, psychological and social factors.

Course, prognosis and complications: Prognosis for the individual episode is good but depression is a relapsing disorder. Approximately 80% of children will have a recurrence of their depression.

Possible complications of depression include: disruption of social life (no friends), deterioration of academic achievement, poor school attendance, poor work record, alcoholism and drug abuse, neglect of associated medical illness, eating disorders and suicide.

A study by Weissman and associates(12) highlights the significant morbidity and mortality associated with adolescent major depression. These investigators followed up 73 adolescents with major depression – mean age 15.4 years – and compared them with 43 healthy adolescents. Ten to fifteen years after the patients‟ initial diagnosis – mean age 26 years – patients with adolescent MDD had significantly lower educational achievement and social class. They were also more likely to have missed work because of mental illness. Three out of four (73%) of the depressed adolescents had one or more major depressions during follow up, versus 31% for the control group. They had significantly

86 Depression and Anxiety of Childhood and Adolescence HD 040 more hospitalizations and more impairment in their work, leisure, social and family life. As expected suicidal attempts and completed suicides were much more common in the MDD group. During follow up 26.1% of patients made their first suicide attempt, versus 5.4% for controls; 23.3% had made repeated suicidal attempts versus 2.7%; seven patients (7.7%) had killed themselves compared with none of the controls.

Treatment: First we treat any associated medical conditions or substance abuse. The vast majority or depressed children and adolescents are treated as outpatients with psychotherapy (of the patient and/or their family), antidepressant medications, or often a combination of both psychotherapy and psychotropic agents. The most commonly used antidepressants are the SSRIs because of their relatively benign side effect profile and safety in overdoses. Tricyclic antidepressants are probably less effective for the treatment of young people than for the treatment of adults.

Anxiety or depression? Or both anxiety and depression? The separation of anxiety from depression (largely confined to western cultures) is somewhat artificial. A few patients have symptoms of anxiety only. A few patients have only symptoms of depression. However, a majority of patients we see present with mixtures of both anxiety and depression.

REFERENCES

1. Bernstein GA, Borchart CM, Perwien AR. Anxiety disorders in children and adolescents; A review of the past ten years. J Am Acad Child Adolesc Psychiatry. 1996, 35: 1110-19.

2. DSM-IV. American Psychiatric Association. 1994: 393-444.

3. Falkierska-Paquin N. Lindstrom M. Gillberg C. School phobia with separation anxiety disorder. A comparative 20-29 year follow up study of 356 school refusers. Compr Psychiatry. 1997, 38: 17-22.

4. Louie AK. Lannon RA, Ritzick EA et al. Clinical features of cocaine-induced panic. Biol Psychiatry. 1996, 40: 938-40.

5. Fleming JE et al. Prevalence of childhood and adolescent depression in the community Ontario health study. Brit J of Psychiatry. 1989, 155: 647-54.

6. Verhulst Frank C. Endejan Var Den. Ferdinand Robert F, Kasius Marianne C. The prevalence of DSM-III-R diagnoses in a national sample of Dutch adolescents. Arch Gen Psychiatry. 1997, 54: 329-36.

7. Bland RC. Epidemiology of affective disorders: a review. Can J Psychiatry. 1997, 42: 367- 77.

8. Robins E and Guze SB. Classification of affective disorders: the primary-secondary, the endogenous-reactive, and the neurotic-psychotic, in recent advances in the psychobiology of the depressive illness. (TA Willliams, MM Katz and JA Shield, eds.) US Government Printing Office, Washington DC., 1997.

87 Depression and Anxiety of Childhood and Adolescence HD 040

9. Hawkins DR et al. Extended sleep (hypersomnia) in young depressed patients. Am J Psychiatry. 1987, 142: 905-10.

10. Dahl R. Sleep in behavioural and emotional disorders. In: Principles and Practice of Sleep Medicine in the Child. Ferber R, Kryger M, eds. Philadephia: Saunders. 1995, 147-53.

11. Ferro T, Carlson GA, Grayson P, Klein DN. Depressive disorders: distinctions in children. J Am Acad Child Adolesc Psychiatry. 1994, 33: 664-70.

12. Weissman MM, Walk S, Goldstein RB et al. Depressed adolescents grown up. JAMA 1999, 281: 1707-13.

- University of Manitoba Approach to Developmental Problems Faculty of Medicine Med I/HD041 Dr. D. Moddemann/Dr. A. Hanlon- Dearman/Dr. N. Bowman/Dr. T. Wiebe 2007 Objectives:

Following this tutorial, the student will be able to:

1. Identify some of the common developmental problems after obtaining an appropriate history. 2. Develop an appropriate differential diagnosis. 3. Outline an appropriate management plan

References:

1. Nelson Essentials of Pediatrics, Behrman and Kliegman, 5th Edition, 2006. 2. Pediatric Clinical Skills, R. Goldbloom 3. Previous lecture notes and lecture content. 4. Developmental and Behavioral Pediatrics: A Handbook for Primary Care. Parker and Zuckerman. (excerpts on reserve in library)

CASE 1 Rationale:

Early identification of speech and language abnormalities, leading to early intervention, may prevent the social/emotional and cognitive deficits of such a disability.

Objectives:

A student will be able to 1. Obtain appropriate history and determine if significant speech and language abnormalities are present. 2. List the major communicative milestones. 3. Use the information obtained from the history and physical to develop a differential diagnosis. 4. Outline the management plan.

Case:

A four year old female whose parents are concerned that her language skills are delayed for her age.

Questions:

1. What is the normal expected speech at 4 years? 2. What is the difference between speech and language? 3. What are some causes of speech and/or language delay? 4. What are important questions to ask on history? 5. What would you look for on physical exam? 6. Discuss management.

Approach to Developmental Problems HD041

CASE 2

Rationale:

Children with a variety of problems often present with behavioural symptoms. Early recognition of underlying disorders allows the special needs of such children to be met and parents to receive guidance about management.

Objectives:

A student will be able to 1. Obtain appropriate history to determine if a significant behaviour problem is present. 2. Using the information obtained from the history and physical, develop a differential diagnosis. 3. Outline a management plan.

Case:

Six year old male presents with disruptive, hyperactive behaviour in school.

Questions:

1. What are some causes of such behaviour?

2. What questions are important to ask in the history?

3. What important findings should you look for in physical exam?

4. How should this child be evaluated further?

5. What intervention strategies could be tried?

Physical Aspects of Normal Adolescent University of Manitoba Development Faculty of Medicine Med I - HD042 Dr. Margo Lane - 2007

Objectives: 1. Understand the process of normal puberty in males and females. 2. Recognize normal timing of onset of puberty, growth spurts, weight spurts and menarche in puberty. 3. Be able to describe the characteristics of the Tanner Stages (Sexual Maturity Ratings) for both males and females.

Definitions:

Adolescence: Stage of life cycle, psychosocial transition from childhood to adulthood

Puberty: Biologic process resulting in physical transformation from a child to a reproductively mature adult

Physical changes reflect hormonal action Changes are permanent Variable timing and rate of progression through stages of puberty but a predictable sequence of change

Gonadarche: Onset of genital maturation due to reactivation of the hypothalamic-pituitary- gonadal axis

Adrenarche: Stimulation of adrenal cortex to produce adrenal androgens leading to pubic and axillary hair, sebaceous gland activation (body odor, skin oil, acne)

Thelarche: Onset of breast development

Menarche: Onset of menstrual periods, ie the age of a girl’s first period

Physical Aspects of Normal Adolescent Development HD 042 Tanner Staging or Sexual Maturity Rating: Clinical measurement tool to assess pubertal development

Pubic Hair (Male and Female): Tanner 1 prepubertal Tanner 2 sparse growth long, slightly pigmented hair on mainly labia or base of penis Tanner 3 darker, coarser, curlier, starting to spread over symphysis pubis Tanner 4 coarse and curly (i.e. adult quality) but restricted to pubic area Tanner 5 extension to thighs (females & males) and toward umbilicus (males)

Breast (Female) Tanner 1 prepubertal, elevation of papilla Tanner 2 breast bud stage, small mound under papilla Tanner 3 enlargement of breast tissue surrounding areola Tanner 4 areola and papilla form a ―secondary mound‖ over breast Tanner 5 ―mature female‖, areola continuous with underlying breast

Genitalia (Male) Tanner 1 prepubertal Tanner 2 enlargement of scrotum and testes (>2.5 cm, or 4 mls), reddening of scrotal skin Tanner 3 further growth scrotum, testes, lengthening of penis, thinning and darkening of scrotal skin Tanner 4 further growth ― ― ― ― , widening of penis Tanner 5 ―mature male‖

Key Timings:

Females:

Onset puberty: normal range 8-13 years, typical 10-11 years first sign is most often breast bud development

Peak of growth spurt is at Tanner 3, typically 11 –12 years

Menarche is most commonly a Tanner 4 event, mean age is 12.5 yrs, Considered delayed if it has not occurred by 16 years or 5 years after thelarche

Males:

Onset puberty: normal range 9-14 years, typical 11-12 years First sign is the enlargement of testicles

Peak of growth spurt is at Tanner 4, typically 14 years

HD043 7/21/2009

Severe Personality Disorder in Adolescence “The anguish and rage of children with severe personality disorders assail clinicians with Development of Personality uncanny power. Like no other patients, these children challenge the clinician's skill and Disorders in Adolescence sensitivity. Although they strain the resources of schools and caregivers, their Eric L. Vickar, MD, FRCPC remarkable determination to survive can be Diplomate American Board of Psychiatry and Neurology Associate Professor in Psychiatry both touching and endearing. Yet they excel Faculty of Medicine at defeating efforts to help them.” University of Manitoba

Bleiberg (2001)

Personality Disorder?

“The means these children use to endure their • “…relatively enduring and pervasively emotional survival can inflict enormous pain on maladaptive patterns of experiencing, themselves and their families, and can evoke coping and relating…” (DSM IV, APA, responses from others that reinforce their 1994) own maladaptation. Indeed, treatment often • How can we conceptualize children and fails as clinicians succumb to their own adolescents within their dynamic and inability to manage the emotional reactions fluid developmental process to have elicited by these children.” rigid and enduring patterns of Bleiberg (2001) personality function?

Personality DSM IV Personality Disorders

• “…interaction of genetic and • Cluster A: Paranoid, Schizoid, psychosocial forces generates risk Schizotypal factors and protective influences which • shape how children generate, organize Cluster B: Antisocial, Borderline, and structure their subjective Histrionic, Narcissistic experiences, coping mechanisms and • Cluster C: Avoidant, Dependent, relationship patterns.” Obsessive Compulsive • supported by a growing body of • Personality Disorder Not Otherwise developmental and prospective research Specified Bleiberg (2001)

1 7/21/2009

Adolescent Personality Disorder: Adolescent Personality Disorder: Historically Historically • Mahler, Ross, Defries (1949)… a group • Ekstein and Wallerstein (1954) of “atypical” children whose disturbance “borderline” designated children who in ego functions and object relations is were not on the way to becoming < severe than psychotic children but psychotic. >severe than neurotic children. • “characteristic pattern of • Mahler (1949) “benign” or “borderline” unpredictability which is paradoxically psychosis, a precursor to the idea of one of [their] most predictable aspects” schizophrenic spectrum

Adolescent Personality Disorder: Adolescent Personality Disorder: Historically Historically • “Borderline Children”… Vela et al • in contrast to Borderline Disorder, (1983) there is a relative paucity of discussion 1) disturbances in interpersonal in the literature of the histrionic, relationships; narcissistic and antisocial disorders as 2) disturbances in the sense of reality; they develop during the formative 3) excessive anxiety; years. 4) severe impulse problems; • a few authors have examined 5) “neurotic-like problems”; narcissistic traits and disorders as they 6) uneven or distorted development emerge in children Bleiberg (2001)

Adolescent Personality Disorder: Adolescent Personality Disorder: Historically Historically • these models have focused on distortions and arrests in early • Rutter et al (1983 and 1998) examined development. combinations of evident biological and • psychological vulnerabilities of delinquent support for these models comes largely youngsters. from retrospective accounts collected • Children‟s capacity to form enduring from adult patients. affectionate bonds and to experience genuine Bleiberg (2001) concern for others is the most meaningful dimension determining outcome

2 7/21/2009

Personality Disorder in Personality Disorder Adolescence • Bernstein, Cohen: 641 adolescents followed • Less than half of patients diagnosed in for 10 years. late childhood to mid adolescence with a • Personality disorders do seem diagnosable in PD retained the diagnosis 2 years later; adolescents. although if initially diagnosed with a PD, • ~ 15% met study criteria for the presence of subjects were substantially at increased a personality disorder before adulthood. risk for having a PD upon reassessment. • PD diagnosis was predictive of increased odds • of major mental illness/personality disorder Childhood behavioral and emotional diagnosis in young adulthood, holding constant problems were predictive of adolescent child and adolescent major mental illness. personality disorders.

Personality Disorder in Development of Personality Adolescence • Conduct problems and immaturity in childhood • Personality development depends on (distractibility, low persistence at tasks, low interaction of constitution, innate achievement motivation, and non-compliance temperament, attachments and with adult demands) predicted a broad range interactions with parental figures and of personality disorders in adolescence. others, experiences, available role • Depressive and anxious symptoms in childhood were predictive of Cluster B (histrionic, models, opportunity for the acquisition borderline, narcissistic, antisocial) disorders of coping skills… ( and other factors) in adolescents.

Development of Personality: Reflective Function Infant Factors • Very young infants differ from one • Secure attachment and parental reflective another among several variables response enables and encourages the child to (biological functioning, autonomic develop reflective function (precursor of mindfulness) activity, sensory alertness to stimuli, • adaptability to change, characteristic caregivers first represent in their own minds their infant‟s internal state, then respond moods, distractibility and persistence). accordingly. Together the factors constitute • He/She [the caregiver] thinks that I think, temperament which interacts with the therefore I am” (Fonagy and Target 2000) caregivers and the environment.

3 7/21/2009

Reflective Function Reflective Function

• Babies find themselves when the look • secure attachment helps to assure the infant into their mother‟s face (Winnicott that he/she will be effective in bringing an 1967)… they find an image of appropriate response from the environment. themselves as intentional mindful beings • moment to moment capacity of the caregiver • Series of intersubjective interactions to maintain a reflective stance despite helps to ascribe agency to the child‟s infant‟s distress, efforts for proximity or behavior through the representation of autonomy/mastery is key to secure the child in the parent‟s own mind as a attachment and reflective function in the psychological being infant

Reflective Function Reflective Function

• reflective function may serve the • reflective function can be selectively and evolutionary purpose of permitting intermittently inhibited in children and adolescents in response to internal and human beings to exist in communities external cues. and social groups with relative concern • historical human atrocities (eg. Holocaust, for each other‟s welfare. killing fields of Cambodia, ethnic cleansing in Bosnia and Kosovo) exemplify ordinary human • reflective function is normally inhibited beings losing the capacity to conceive of under conditions of intense arousal and others as individual human beings, but as the fight/flight response. “things,” “enemies,” “Jews,” to be destroyed. Bleiberg (2001) Bleiberg (2001)

Dissociative Responses in the Reflective Function Context of Neglect and Abuse • such loss of reflective function carries • when an attuned response is not forthcoming, with it a loss of the sense of ownership some children will shift attention away from over one‟s own behavior… “their aspects of their internal environment and their internal experience (dissociation). behavior seems to have happened to • them”. in an effort to preserve an (illusionary) sense of agency and attachment, maltreated children create for themselves a conviction of a sense of badness and responsibility for their abuse. (Herman 1992)

4 7/21/2009

Development of Self Regulation Development of Self Regulation (early elements of identity) • Erickson (1959) …a sense of “me-ness,” • children with severe personality disorders …”I am me, the same that I was experience a pervasive sense of lack of genuineness, continuity and coherence… with yesterday and am likely to be feelings of hidden defectiveness, tomorrow,” which is relatively incompleteness and phoniness. independent of the feelings of the • the healthy developing child will develop the moment, relationships with others, or capacity to conceptualize the ideal self…initially in the context of reflective awareness of one‟s own developmental function and attunement with the competent changes parent, and later internalized as a comparison with actual self.

Presentation of Maladaptive The Grandiose or False Self Adolescent Personality Traits/Personality Disorders • Winnicott (1965) the “false self”… a sense of self that serves defensive purposes (i.e.. denial of dependence, helplessness, and • Adolescents often do not present as vulnerability) and that accommodates manifesting a complete PD, rather as environmental demands and expectations ( eg. teens with maladaptive traits whose becoming a parent‟s caretaker or the recipient of a caregiver‟s disowned maladaptive functioning has accentuated vulnerability) in the context of a crisis. • children and adolescents can become drawn • Separation / individuation crisis into a reciprocating cycle with their caregivers in this regard. • Identity crisis

Presentation of Maladaptive Presentation of Maladaptive Adolescent Personality Adolescent Personality Traits/Personality Disorders Traits/Personality Disorders • Gang activity / delinquency, criminal • Drugs and alcohol as a primary or behaviours secondary problem • Sexuality crisis, eg. promiscuity, homosexuality or bisexuality as an • School refusal and failure identity crisis • Abuse, recent or remote • Suicidality • Other psychiatric or nonpsychiatric crisis

5 7/21/2009

Comorbidity Borderline Personality Disorder

• Mood Disorders (Bipolar and Depressive • Pervasive pattern of instability of Disorder) interpersonal relationships, self image, • Anxiety Disorders and affects, and marked impulsivity. • ADHD • Frantic efforts to avoid real or • Eating Disorders (esp. Bulimia) imagined abandonment • • Substance Abuse Disorders Unstable and intense interpersonal relationships characterized by alternate • Self Harm and Suicidal Behaviors idealization and devaluation • Learning Disorders • Identity disturbance

Borderline Personality Disorder Borderline Children

• Impulsivity (self damaging) • Complex and severe behavioral syndrome • Recurrent suicidal behaviour/ self mutilating • Highly impulsive • Affective instability due to a marked • Can be depressed, suicidal, and/or suffer reactivity of mood from micropsychotic symptoms • Chronic feelings of emptiness • Symptomatic resemblance to BPD in adults • Inappropriate intense anger (impulsive, affective dysregulation, cognitive • Transient stress related paranoid ideation or distortions) severe dissociative symptoms • Continuity with adult BPD not demonstrated consistently

Borderline Children Borderline Children

• One follow-up study: children developed a • Borderline pathology of childhood wide range of personality disorders by early associated with neuropsychologic adulthood. • Children come from dysfunctional families findings and soft signs of organicity characterized by trauma, neglect and (learning disabilities, ADHD, abnormal separation. EEG). • Empiric findings of sexual and physical abuse • These signs are not specific to are common. borderline children. • Parents of BC demonstrate serious impulsive spectrum psychopathology.

6 7/21/2009

Borderline Disorder in Borderline Disorder in Adolescence Adolescence • BPD is diagnosable in adolescents with • Borderline adolescents and adults share a high rate of sexual trauma in childhood and a greater likelihood only minor modifications of adult of childhood history of disruptive attachments. criteria. • Borderline adolescents and adults show similar disturbances in the nature of relationships with • Phenomenology and etiology of BPD are others. highly similar in adults and adolescents • Borderline adolescents and adults show a similar quality of depression: negative affectivity, affective beginning around age 14. lability, a sense of evilness or inner badness and a tendency to be triggered by perceived abandonment or aloneness.

Relatives of People with Borderline Mothers Borderline Disorder • Patients with BPD tend to have relatives • Children of borderline mothers compared to who suffer from disorders in the children of other personality disordered mothers had more psychiatric diagnoses, more impulsive spectrum (substance abuse, impulse control disorders, higher frequency ASPD, BPD). of childhood borderline pathology, lower functional levels. • 11% prevalence of BPD in first degree • Having a mother with BPD is a risk factor for relatives of probands with BPD. psychopathology. • Having a parent with any personality pathology constitutes a risk factor for pathology in children.

Borderline Personality Disorder Borderline Disorders: Treatment in Retrospect • Retrospective studies on BPD suggest • Strategies to improve mindfulness, that these patients commonly reported develop coping skills (DBT) family dysfunction, serious parental • Relationship Therapy pathology such as Antisocial Personality • Psychopharmacology to address Disorder, substance abuse, and dysphoria, impulse dyscontrol experiences of neglect and abuse.

7 7/21/2009

Antisocial Personality Disorder Antisocial Personality Disorder

• Pervasive pattern of disregard for and • Consistent irresponsibility violation of the rights of others since age 15 yrs • Lack of remorse • Failure to conform to social norms with • At least 18 years of age respect to lawful behaviours • Conduct disorder before age 15 • Deceitfulness • Impulsivity • Irritability and aggressiveness • Reckless disregard for the safety of self or others

Antisocial Personality Disorder in Antisocial Personality Disorder in Adolescence Adolescence • Antisocial Personality Disorder always begins with • Children who become antisocial evidence behavioral conduct disorder in childhood. disinhibition (aggressive, impulsive and irritable). • ~ 1/3 of children with conduct disorder will eventually • Behavioral inhibition (eg. unusual stranger anxiety) is develop into ASPD. likely a risk factor for other personality disorders • Amongst the other 2/3, some recover, others develop such as Avoidant P.D. other major mental illness. • Prospective studies of Antisocial Personality Disorder • Subpopulation of CD children most likely to develop suggest that parental sociopathy and family ASPD is characterized by severity of symptoms and dysfunction associated with inconsistent discipline early onset. are the strongest predictors of antisocial outcome. • Observations as early as age 3 can be used as • Twin studies support a genetic component in the predictors and these children seem to fall into Chess development of ASPD (example of biogenetic factors) and Thomas‟ „difficult temperament group‟.

Narcissistic Personality Disorder Narcissistic Personality Disorder

• Pervasive pattern of grandiosity, need for • Sense of entitlement admiration, and lack of empathy • • Grandiose sense of self importance Interpersonally exploitative • Preoccupied with fantasies of unlimited • Lacks empathy success, power, brilliance, beauty or ideal love • Often envious of others or believes • Believes that he or she is special and unique others are envious of them and can only be understood or should associate with other special or high status • Arrogant, haughty behaviour/attitudes people • Requires excessive admiration

8 7/21/2009

Narcissistic Personality Disorder Narcissistic Personality Disorder

• Thought to be due to developmental • Theorized to be due to the failure of idealized parents and parental figures to arrest… not intrapsychic conflict convey acceptance and approval • Arrest occurs at a stage where • Vulnerable to narcissistic injury when feeling their grandiosity and vulnerable self attacked grandiosity is present as a response to (often by others setting limits) feeling small, weak, and helpless, and at • Treatment involves the use of a holding a time when idealized parents are the environment (i.e.. psychotherapeutic relationship) where empathy and mirroring foundation of a feeling of security. (validation) can occur. • Interpretations about the lack of acceptance can be very important.

Management Management

• Assessment of the presenting issues and the • Treat comorbid conditions (psychotherapies PD (which may or may not be a focus of the initial presentation) and medications as indicated) • Assessment regarding safety • Psychotherapies (individual and/or family) can (suicide/homicide) be of benefit in some personality disordered • Assessment for comorbidity and associated adolescents depending on the individual and conditions (mood disorder, anxiety disorder, personality configuration. substance abuse, academic difficulties/learning disabilities, ADHD, • Medications may be helpful in certain justice violations, etc.) individuals in managing dysregulation • Develop one‟s best understanding of the teenager and their system.

Counseling Adolescents Counseling Adolescents

• Establish an alliance with the adolescent. • Demonstrate respect; don‟t talk down. • The relationship between the adolescent and • therapist should be confidential with Realize that you know little about the exception of issues regarding danger to self adolescent world. or others or markedly dangerous behaviors. • Try to get them to help you see things Establish these boundaries in the first interview with the adolescent. from their point of view. • Have an accepting attitude to their ideas and behaviour; if they are doing something that is not in their best interests you wonder why.

9 7/21/2009

Counseling Adolescents Counseling Adolescents

• Describe your view of things and leave • Try to end each interview on a friendly note them free to try to correct it. Much • Foster identification gets clarified in both minds this way. • Foster the development of the teenager‟s • It is essential to be honest at all times independence and not to engage in hidden maneuvers. • Be willing to hear about the teenager‟s sexual If there is something that you do not life and encourage approaches that are healthy and safe for the growing psyche of want to discuss eg. your personal life, the teenager say so. Leave them free to do the same. • Encourage appropriate boundary formation in • Don‟t boss or influence the home (eg. seductiveness, etc.)

Adolescents: Are They Healthy? University of Manitoba Faculty of Medicine Med I - HD045 Dr. Margo Lane - 2007

Objectives:

1. Know the major causes of mortality and morbidity in adolescents 2. Recognize that threats to health in adolescents are largely secondary to the risk taking behaviours that many adolescents (and adults) participate in 3. Recognize that threats to health in adulthood are often related to behaviours initiated or limited to adolescence / young adulthood

Risk Taking behaviours Voluntary behaviours engaged in by individuals which carry the possibility of a negative health outcome They also inherently carry some potential “positive” outcome Social (e.g. meeting peer approval) Physical (e.g. positive physical sensations) Psychological (e.g. thrilling, self-esteem building) The same “risk taking” behaviour can have different outcomes according to age e.g. An adolescent girl is more likely to contract an STI from unprotected sex than is an adult woman Not wearing a seatbelt or impaired driving is riskier for a novice driver than an experienced one Engaging in risk-taking behaviour serves a purpose in adolescents Adolescents try many looks & behaviours on for size, including risk-taking behaviors, as they establish their identity

Developmental Tasks of Adolescence: Who Am I? How do I define myself as a person? How do I define myself sexually? How do I fit in with and how am I different than my family? How do I fit in in my broader social world? What is my value system? What will my career be? How will I support myself?

Leading Causes Death, 15 - 19 yr Both Sexes, 97 Unintentional injury (46%) Suicide (23%) Cancer (8%) Leading Causes Hospitalization 96 / 97 Males Unintentional injury (24%) GI (14%) Mental Health (13%) Respiratory (11%) Females (excl pregnancy) Mental Health (16%) GI (14%) 94

Adolescents: are they healthy ? HD 045 Respiratory (14%) Unintentional Injury (8%)

Depression During adolescence depression rates jump from the 2-3% point prevalence rate of school-age children to 5% of adulthood Lifetime prevalence rate: 15-20%

Body Image Weight Control Behaviours, Ontario 2001 12-18 yr old females attending school: Dieting for weight loss: 23% Binge eating with loss control: 15% Self-induced vomiting: 8% Use of diet pills: 2.4% Use of laxatives 1.1% Anorexia nervosa prevalence rate: 0.5-1% females Bulimia nervosa prevalence rate: 1-4% females F:M ratio 9:1

Substance Use 73% report alcohol use in past year <10% report getting drunk weekly 20% males, 15% females over 16 yrs have driven under influence in past year >50% S4 students have been passenger in car where driver has been drinking

Tobacco, Alcohol, and other Drug use MB, 2001 18% none 30% alcohol only 1% tobacco only 0.6% other drugs only 28% all Sexual Health

Sexually Transmitted Infections Human Papilloma Virus (HPV) Most common STI in Canada Non-reportable 50% of young women acquire HPV infection of the cervix by 5-7 yrs post onset of vaginal intercourse

Summary: Threats to health in adolescents are largely due to the risk taking behaviours that many adolescents (and adults) participate in “Risk-taking” is understandable from a developmental point of view “Risk-taking” behaviour can have both imminent negative consequences and long lasting negative repercussions

Adolescence: Development of Identity

Med 1 / HD 046 Dr. M. Teschuk Clinical Health Psychology Objectives:

1. Discuss the two major developmental tasks of adolescence: individuation from parents and consolidation of identity.

I. COGNITIVE DEVELOPMENT

- the emergence of formal-operational thinking -moral reasoning -implications for self-esteem and emotional functioning

II. THE PROCESS OF ESTABLISHING AN IDENTITY

-early signs of an emerging self -identity “crisis” -resolution of the crisis and movement to the “intimacy” stage

III. JAMES MARCIA’S EMPIRICAL APPROACH: RESEARCH ON IDENTITY STATUS

a) Identity Diffusion b) Foreclosure c) Moratorium d) Identity achievement

IV. TRANSFORMATION OF THE FAMILY SYSTEM IN ADOLESCENCE

-parenting for preparation vs. parenting for protection -parenting styles: overprotective, permissive, authoritarian, authoritative

Psychological Aspects of Adolescent Development (FILM)

Med 1 / HD 047 Dr. M. Teschuk Clinical Health Psychology Objectives:

1. Apply the concepts discussed in HDO46 to the adolescent girls in the film, "Talk 16" (i.e. identity formation, identity status; cognitive-emotional development; family relations).

During this two-hour period, we will view the National Film Board documentary, "Talk 16". This film richly illustrates the concerns and personal styles of 5 adolescent girls filmed over a one-year period several years ago in Toronto.

Adolescent Identity Tutorial

Med 1 / HD 048 Dr. M. Teschuk Clinical Health Psychology Objectives:

This tutorial, following viewing of "Talk 16", will provide an opportunity for discussion of the developmental tasks of adolescence.

2. At first blush, these five girls appear, outwardly at least, very different. Upon closer reflection, however, can you think of commonalities in their style of "viewing and relating to the world"? In other words, what is so quintessentially "adolescent" about them? 3. Apply James Marcia's identity statuses to each of the girls in the film. 4. Imagine yourself as a primary care physician for each of these girls. What types of psychological and health concerns might arise, and how might you most effectively handle these issues?

HD051

Adolescent Suicide Med I • Suicide rates have increased since 1960 • In Canada, young men have higher rates Robert J. Steinberg MD FRCPC • Attempts are 20X more frequent than deaths Asst Prof University of Manitoba Service Chief: • Girls attempt 3X more than boys Child and Adolescent Acute Assessment Service (CAAAS) Intensive Child and Adolescent Treatment Service (ICATS) • Boys die 3X more than girls

You would need to know

• Rates are ~15 deaths per 100,000 (or • Normal developmental psychology higher) • Abnormal psychology • In the USA, 7-9% of high school students • DSM IV admit to at least one attempt • Assessment skills • Suicide has been the #2 cause of death among • Diseases and disease process teens in Canada • Pharmacology – Number one is accidental injury • Psychotherapy and Family Therapy • Substance abuse

Experience

• Psychiatry (or pediatrics or family medicine) • Child and Adolescent Psychiatry • Emergency • Community resources

1 • Biological, genetic, psychological and environmental factors contribute • You need to ASK • 40-60% have seen a physician in the month (about suicide) prior • Most saw a family doctor

Adolescent Development

• Early • Middle • Late

• Establish rapport • Need to assess risk, urgency and probable success of suicide • Psychiatric Disorders (80-100%) • Previous attempts (1/3 try again)

2 Risk Risk

• History of prior suicide attempts • Suicide note • Attempt / lethality of attempt • Putting “affairs in order” • Timing (OD and then sleep vs suppertime) • Recent change in behaviour/ personality • Plan • Psychiatric D/O • Intention • Substance abuse/use • Means (pills, gun, knife, rope etc) • Family Hx of suicide/attempts • Acute and chronic stressors • Family Hx of psych D/O or subst abuse

Risk Risk

• Friends / relatives with recent suicide • Parental alcohol / drug abuse • No hope or future orientation • Parental discord • Lack of family / social supports • Charges / sentence by a court of law • • Geographic isolation Separation from a parent • Poor self esteem • Socioeconomic stress • Family dysfunction or parental arguing • Developmental stresses • School • Hx of abuse / family violence • Parental and personal expectations

• Current and recent life stressors: • DRUGS AND ALCOHOL – Bereavement – Loss – Perceived failure, criticism or rejection – Social isolation

3 Resources Phone Numbers

• Children’s Hospital Emergency • Centralized Intake 958-9660 • Youth Emergency Service / MCT / CSU • Mobile Crisis Team 949-4777 • Centralized Intake • Suicide lines: • McDonald Services for Youth • Teen Touch 783-1666 • Child and Family Services • Kids Help Phone 1-800-668-6868 • Klinic 786-8686

Important Points Bob Steinberg

• (suspect and) ASK • [email protected] • Treat underlying Psychiatric Disorders • Marlise or Lisa 787-7990 • Treatment for substance abuse disorders • Environmental and social interventions • PX-121 • Family interventions • YOUR intervention by asking and talking

Adolescent Risk Taking & The Physician: Assigned Study University of Manitoba Faculty of Medicine Med 1 / HD 052 Dr. M. Teschuk Clinical Health Psychology

During this Assigned Study session, students should read:

College of Family Physicians of Canada (1993). From an Acorn to an Oak Tree: It's Not Easy, Being Young. A Report of the Task Force on Adolescent Health several copies of which are on reserve in the library.

Objectives After reading this report, students will be able to:

1.Explain why the health of adolescents as a group has not improved over the past half century, while the health of all other age groups has improved significantly. 2. State the primary causes of death and illness / injury for this age group. 3. Describe the role of peer pressure and risk taking in adolescent identity development and the health risks involved. 4. Describe how and why the doctor-patient relationship is different with adolescent patients. 5. Describe several ways in which the physician‟s practice can be modified to accommodate adolescents‟ special needs and their ways of accessing the health care system.

Adolescent Health Concerns University of Manitoba Faculty of Medicine Med I/HD053 Dr. M. Lane 2007

Objectives:

1. With the use of case studies, discuss specific health and developmental issues and their management in adolescents.

Suggested Reading: Nelson‟s Essentials of Pediatrics 4th Ed. p 251-256, 272-286

CASE #1

Mark, a 13 year old male adolescent, is brought in by his father who is concerned that the boy is not growing properly. The dad states that Mark was the same height as his best friend 3 years ago and but now the friend is taller than Mark. Dad‟s height is 173 cm (5‟ 8”) and Mom‟s height is 157 cm (5‟ 2”). The adolescent‟s height is 150 cm (4‟11”) and his weight is 40 kg (88 lbs.).

1. What do you think is going on in this boy? What pertinent medical questions should be asked about the adolescent‟s growth? What pertinent physical examination findings?

2. How do you determine what Tanner stage he is at? Why do you care?

3. When should you investigate for delayed puberty? What might cause a delay in puberty?

4. a) What advice would you have for this adolescent and his father? Where do you think his height might end up?

b) Is there any need to investigate?

MED I – HD053 100

Adolescent Health Concerns HD 053

CASE #2

Destiny, a 13 year old girl is brought to see you by her mom because she hasn‟t started her periods yet. Destiny is 150 cm (4‟11”) tall and weighs 40 kg (88 lbs.)

1. What pertinent questions do you have?

2. What pertinent physical examination findings will you look for?

3. What advice will you give Destiny regarding when to expect her periods?

4. What is Destiny‟s body mass index (BMI)? What does this plot as?

CASE #3

Cherie, a 13 year old female presents to your office. She is concerned that her period is late and that she may be pregnant.

1. What are the key questions you want to ask?

2. If she is pregnant, how would you present the options?

3. What social factors place an adolescent at higher risk of becoming pregnant?

MED I – HD053

101

Adolescent Health Concerns HD 053

4. What medical concerns should be asked during the initial visit if she is pregnant?

5. If she is not pregnant, what issues should be addressed?

6. If she wishes to start birth control, what are your obligations to inform her parent / guardian

102

Adolescent Suicide II University of Manitoba Faculty of Medicine Med I/HD055 Dr. R. Steinberg 2007-08

Objectives

1. Describe the demographic factors surrounding suicide attempts and completed suicide. 2. List the many factors that can lead to suicide in an adolescent. 3. Discuss some interventions and assess techniques to use in tryng to prevent suicide in adolescents. 4. Assess and screen risk for suicide.

Adolescent Suicide II University of Manitoba Faculty of Medicine Med I/HD055 Dr. R. Steinberg 2007/08

Scenario #1

A 17 year old boy attended the IB program at his local school and had many friends with whom he was at a party Friday night. He abused alcohol and some marijuana. His parents were divorced. His dad had owned a restaurant but lost the business when he was charged with sexual harassment. He had broken up recently with his girlfriend. Dad started a new restaurant business. He lived with his dad.

Scenario #2

Christine, a 14 year old Caucasian girl lived with her dad. Her mom lived in Ontario. Her parents were divorced. Christine attended elementary school in her neighbourhood. She had an older brother in senior high. Her best friend had been diagnosed with retinitis pigmentosa and her dad was very supportive of her friend. A policeman had befriended both girls and Christina was spending a lot of time with him.

CONSIDER BOTH CASES:

1. Which of these teens committed suicide? Why do you think? What are the demographic and risk factors evident in these brief histories.

2. If you had half an hour to talk with each teen and their family, what would you want to talk about? How would you assess suicide risk? What intervention might you offer?

Eating Disorders II University of Manitoba Faculty of Medicine Med I/HD090 Dr. E. Gill 2006-07

EATING DISORDERS - Case 1

Identifying Data: Name: Mrs. R Age: 19 Marital Status: Single Occupation: Student

Entrance Complaint and History of Present Illness:

The appointment was made by Ms. Rs parents. The patient refused to talk on the phone prior to the appointment and stated she didnt want a psychiatric assessment, but was forced to. She says she rationally knows that she has a problem but it doesnt seem like it most of the time. She began dieting three years ago at the beginning of her Grade 11. She was 5'5" at the time, weighed 117 pounds and felt fat. She is now 5'5" and weighs 88 pounds. Currently she eats very little and avoids most foods. She vomits 1-6 times per day. Her only vomit-free days are when she fasts which is 1-2 days per week. She eats alone and will vomit anything which deviates from her very limited list of safe foods. She does not binge in the true sense, although she does have episodes that she experiences as binges following which she self-induces vomiting. She uses 15-25 laxatives daily (Exlax), as well as 3-6 appetite suppressants (Dexatrim). She occasionally uses her mothers diuretics. All of these behaviours began after she became unsatisfied 2 years ago with her weight loss after one year of dieting, and have really increased in severity since starting University I in September.

Present Adjustment:

Ms. R continues to attend classes at university. She spends most of her spare time at home. She goes out socially, at most, once per week, and feels that her relationships with male and female friends and parents are deteriorating. She spends most of her time alone in her bedroom and has little desire to be with people. She states that if a guy were to put his arm around her she would throw up.

Personal Medical History:

Menses stopped one year ago at a weight of approximately 95 pounds. She complains of constantly feeling cold, weak with episodes of faintness but with no loss of consciousness. Her hair has been falling out and her skin is very dry. A fine growth of new hair recently appeared on her neck and upper back. On occasion she has a tingling sensation in her extremities. She feels that her heart is beating slowly, at times missing a beat or two. A recent physical and biochemical exam performed by her family physician was only positive for hypothermia, hypotension and bradycardia. No abnormalities were noted in serum chemistries.

Personal Psychiatric History:

No previous psychiatric contact.

Family Medical/Psychiatric History:

Mother has high blood pressure and father has arthritis. Some members of the extended family have type II diabetes. Paternal grandmother has been treated for recurrent nervous breakdowns and a paternal uncle is an alcoholic.

103

Eating Disorders II University of Manitoba Faculty of Medicine Med I/HD090 Dr. E. Gill 2006-07

Personal History:

Ms. R is an only child. She recalls mother saying that her labor and delivery was normal. Early growth and development was unremarkable. She was a good student who got As and Bs in school without having to work very hard. She has dated, has had boyfriends and has had sexual intercourse. Her attitude to sexual activity is negative and says she had sex because it was easier to give in than to assert her wishes. She has three or four girlfriends, one of whom she is quite close to. This week she and her girlfriend had a fight because her friend cannot cope with Ms. Rs eating disorder. Ms. R says she is having difficulty being independent from her parents. She went to university because her parents wanted her to. She wanted to go away to university, but didnt because mother disapproved of her leaving home.

Family History:

Father is a 45 year old engineer. He is described as reliable, intelligent, and strong. He rarely shows emotions, is secure, confident, and successful. Ms. R gets along well with him. Mother is a 43 year old homemaker with a B.A. She is described as over-emotional, irritating, lacking in common sense, whiny, nagging, spinny, and prone to exaggeration. Ms. R and mother dont get along. She describes the family as not close. Ms. R is never in the same room as her parents if it can be avoided. She describes parents as mismatched and believes Dad is frustrated with his wifes lack of ability to understand simple things.

Mental Status:

Ms. R presents as an extremely thin and pale young woman neatly dressed in loose fitting jeans, blouse and hooded sweater looking younger than her stated age of 19. She relates well, freely giving information about self and family. Overall cooperative to the interview, she was at times evasive and defensive around weight and food issues. Affect was mildly restricted but overall she appeared sad and was near tears at times. She describes her mood as depressed and scored 24 on the Beck Depression Inventory. She has passive thoughts of wanting to die, but denies any active suicidal ideation. Thought processes were organized and logical, there was no evidence of thought disorder, delusions or perceptual disturbances.

Although not formally tested there appeared to be no impairment of memory, cognition or judgment.

1. What are the DSM-IV criteria for the diagnosis of anorexia nervosa?

2. What are the two types of anorexia nervosa and why do we need to discriminate?

3. What is the course, prognosis and mortality rate in anorexia nervosa? What are the usual causes of death?

4. Describe some of the behaviours designed to lose weight in the eating disorders.

5. What is the starvation syndrome and why is understanding it important in the understanding and treatment of eating disorders?

6. Describe some of the medical complications of starvation found in Anorexia Nervosa by body system.

7. What co-morbid axis I diagnoses are frequently seen with Anorexia Nervosa?

104

Answers:

1. What are the DSM-IV criteria for the diagnosis of anorexia nervosa? A) Refusal to maintain body weight at or above a minimally normal weight for age and height, (eg. weight loss leading to maintenance of body weight less than 85 % of that expected; or failure to make expected weight gain during period of growth, leading to body weight less than 85% of that expected.) B) Intense fear of gaining weight or becoming fat even though underweight. C) Disturbance in the way in which ones body weight or shape is experienced, undue influence of body weight or shape on self-evaluation, or denial of the seriousness of the current low body weight. D) In post-menarcheal female, amenorrhea i.e. the absence of least three consecutive menstrual cycles. (A woman is considered to have amenorrhea if her periods occur only following hormones eg. estrogen administration or oral contraceptives.)

Specify type:

Restricting Type: during the current episode of Anorexia Nervosa the person has not regularly engaged in binge eating or purging behaviour (i.e. self-induced vomiting or the misuse of laxatives, diuretics or enemas)

Binge Eating/Purging Type: during the current episode of Anorexia Nervosa the person has regularly engaged in binge eating or purging behaviour.

Please get students to describe what elements of the DSM-IV criteria are present in Ms. Rs history.

2. What are the two types of anorexia nervosa and why do we need to discriminate?

The restricting subtype is usually more socially avoidant, withdrawn, isolated, obsessional and more perfectionistic. The bulimia subtype is usually more impulsive, depressed and self-destructive. They are more likely to abuse alcohol and drugs and more likely to have medical complications.

3. What is the course, prognosis and mortality rate in anorexia nervosa? What are the usual causes of death?

The course and outcome of anorexia nervosa are highly variable. Some individuals with anorexia nervosa recover fully after a single episode and there is full recovery in 30 to 50 percent of individuals. Some exhibit a fluctuating pattern of weight gain followed by relapse. For some the diagnosis alternates with period of Bulimia Nervosa and Anorexia Nervosa. Others experience a chronic deteriorating course of illness over many years. The mortality rate is 5 to 10 percent within the first 10 years of onset of the anorexia and 20 percent in 20 years of follow-up. Death most commonly results from starvation, suicide, or electrolyte imbalance leading to sudden cardiac arrhythmias or renal failure. Sixty percent maintain persistent morbid food and weight preoccupations and 40 percent will develop bulimic symptoms.

4. Describe some of the behaviours designed to lose weight in the eating disorders. A) Decreased Intake: Restrictive eating, eating small quantities of low calorie foods or complete fasting. Using appetite suppressants such as the amphetamines or over-the- counter drugs like Dexatrim. B) Increased Caloric Expenditure: Excessive activity such as overexercising, spending excessive amounts of time exercising, burning calories through continual movement and pacing. Using herbal preparations or drugs that are promoted for fat burning, fat mobilization or muscle building such as chromium products and creatine. C) Purging of Ingested Calories: Self-induced vomiting or Ipecac induced vomiting, laxative abuse to promote diarrhea, and sense of emptiness, diuretic abuse.

105

5. What is the starvation syndrome and why is understanding it important in the understanding and treatment of eating disorders?

In the 1950's Ancel Keys and his colleagues at the University of Minnesota conducted an experimental study which carefully studied 36 young, healthy, psychologically normal men while restricting their caloric intake for 6 months. These men chosen out of 100 who had volunteered for the study as an alternative to military service had the highest level of physical and psychological health as well as the most commitment to the objectives of the experiment. During the first of three months of the experiment, the volunteers ate normally while their behaviour, personality and eating patterns were studied in detail. During the next 6 months the men were restricted to approximately half of their former food intake and lost on average approximately 25 percent of their former weight. The 6 months of weight loss were followed by three months of rehabilitation during which the men were gradually refed. A subgroup was followed for almost nine months after the refeeding began.

During the starvation phase these men developed a dramatic increase in food preoccupations and they became plagued by incessant thoughts of food and eating. Food was a principle topic of conversation, reading and day dreams. They collected cook books and recipes, hoarded food, and nonfood related items and despite little interest in culinary matters prior to the experiment, almost 40 percent of men mentioned cooking as part of their post-experiment plans. Abnormal tastes and preferences developed: there was a marked increase in the use of salt and spices as well as the consumption of coffee and tea and gum chewing became excessive. Binge eating developed as well as other disturbances of appetite regulations. Symptoms of depression developed and obsessionality, apathy, irritability, and frequent outbursts of anger were common. Marked anxiety became evident and two subjects developed psychosis. Previously quite gregarious, the men became progressively more withdrawn and isolated, humour and comradeship diminished amidst growing feelings of social inadequacy. The volunteers reported impaired concentration, alertness, comprehension and judgment. However formal and intellectual testing revealed no signs of diminished intellectual abilities.

Once re-fed, full psychological recovery didnt occur until 6 months to a year after the subjects had regained all of their lost weight.

This study is significant in that it demonstrates that many of the symptoms thought to have been specific to Anorexia Nervosa and Bulimia Nervosa are actually symptoms of starvation. These are not limited to food and weight but extended to virtually all areas of psychological and social functioning. Since many of the symptoms that have been postulated to cause these disorders may actually result from under-nutrition, it is absolutely essential that weight be restored to normal levels so that psychological functioning can be accurately assessed.

6. Describe some of the medical complications of starvation found in Anorexia Nervosa by body system.

The medical complications of anorexia nervosa are due to the metabolic and endocrine adaptations to starvation and malnutrition leading to nutritional deficit. The medical emergency situations result from hypophosphatemia, bone marrow failure, cardiac decompensation and shock. Fluid and electrolytes: electrolytes are usually normal on initial assessment. There is occasionally decreased calcium, decreased phosphate with glucose refeeding and decreased levels of magnesium leading to cardiac and muscular symptoms. Renal: decrease glomerular filtration rate (GFR), kalepenic nephropathy and decreased BUN due to decreased lean muscle mass.

Cardiovascular: cardiomyopathy secondary to loss of muscle mass, congestive heart failure and mitral valve prolapse (40%). Bradycardia, hypotension, orthostasis, EKG changes - U wave, ST, T, QT wave changes, low voltage, sudden cardiac death and peripheral edema.

Gastrointestinal: delayed gastric emptying, impaired taste, constipation, hepatitis with increased liver enzymes. 106

Neurological: epileptic seizures, CAT and PET scan changes. Evidence of ventricular dilatation and of decreased white and grey matter.

Musculoskeletal: decreased muscle mass, osteoporosis with pathological fractures, growth retardation.

Hematological: anemia, decreased white blood count, bone marrow hypocellularity, thrombocytopenia, decreased levels of coagulation factors and decreased ESR.

Endocrine: amenorrhea, decrease LHRH, decrease LH, decrease FSH, decrease estrogen, decrease progesterone, blunted response to LHRH, decrease T3, increase reverse T3, increase cortisol with loss of diurnal variation, DST non- suppression, decrease cortisol response to insulin, increase growth hormone levels and decrease peripheral catecholamines.

Metabolic: fasting hypoglycemia, abnormal GTT, increase in beta-hydroxybutyric acid, increased cholesterol, decreased protein, increased carotene and decreased zinc, abnormal temperature regulation.

Mucocutaneous: petechia, purpura, hair loss, lanugo, brittle hair and nails, yellowing of skin, dry skin, cold extremities and acrocyanosis.

7. What co-morbid axis I diagnoses are frequently seen with Anorexia Nervosa?

There is a 25 percent life time prevalence of OCD in anorexia nervosa. Fifty to seventy percent develop a major depression and/or dysthymia.

107

Eating Disorders II University of Manitoba Faculty of Medicine Med I/HD090 Dr. E. Gill 2006-07

EATING DISORDERS - Case 2

Ms. T. is a 24 year old single insurance policy analyst who presents for consultation regarding her eating problems. She is the third of four children of a well-to-do Brandon attorney and his wife, who was a homemaker while Ms. T was growing up. No one in the family has had a problem with being overweight, but a premium has always been placed on being strong, fit, and in shape. As a child, Ms. T was a good student and an athlete and developed an interest in figure skating. As a young teenager, she placed well in local competitions and gradually devoted more time and energy to training.

At age 15 as she entered her grade 9, her first year of high school, Ms. T transferred to an all-girls boarding school because her parents felt this would increase her chances of being admitted to a medical school. She made several friends, did well in her courses, and generally coped well with the demands of the new school. She continued to pursue her interest in figure skating and began training with a new coach. Although for the most part supportive and encouraging, the coach did comment on one occasion that Ms. T might do better competitively if she lost a few pounds. At this time, Ms. Ts weight was 128 pounds, normal for her age and height of 5'7", and her diet was not unusual. Stung by her coachs remark, Ms. T embarked on a vigorous program of exercise and dieting. In addition to her daily skating practices, she went to an aerobics class six days a week. She also eliminated desserts and red meat from her diet. Because of the time-consuming nature of these activities, she grew distant from the new friends she had made at school.

During the first year at boarding school, Ms. Ts weight dropped from 128 to 100 pounds, and her menstrual periods, which had been regular since age 13, ceased. When she returned home for summer vacation, Ms. Ts parents were very concerned by her obvious weight loss and insisted that she see her pediatrician who, in turn, referred her to a psychiatrist. It is not clear what diagnosis was made and, after a few visits, Ms. T refused to continue treatment. During that summer, however, her eating habits began to change. Although Ms. T tried to maintain the dieting program she had begun at school; she found herself struggling to control her appetite and, on several occasions, ate a box of cookies and a pint of ice cream late at night after the rest of the family had gone to bed. When she returned to school, Ms. T continued to intermittently overeat and eventually developed a pattern of dieting during the week and overeating on weekends. Although she continued to skate competitively, she was unable to maintain the vigorous exercise program she had initiated during her first year at boarding school. Her weight gradually rose through the rest of high school to 125 pounds, and her menses resumed after nine months of amenorrhea.

After she graduated from high school, Ms. T entered the University of Manitoba where she took first year Arts. She was a good, but not outstanding student. Her weight continued to rise, reaching a high of 150 pounds in the fall of her first year. When she was home for Christmas that year, she found herself unable to stop eating the holiday cookies and snacks in the house. Greatly distressed at the prospect of gaining more weight, she decided she would induce vomiting after overeating. She did so and thus began a pattern of overeating and then inducing vomiting at least twice a week that has persisted for the past 6 years. On nights when she knows her roommate will be out, Ms. T typically buys a pint of ice cream and a box of chocolate chip cookies on the way home from work. After arriving home, she consumes the cookies and ice cream and any other leftover desserts in the refrigerator over the course of an hour while she watches TV. She then induces vomiting. Ms. T is very ashamed of this disgusting habit and has resolved to stop on numerous occasions; however, she has been unable to do so for more than two weeks at any given time. When she is not overeating, Ms. T attempts to diet rigorously. She continues to avoid red meat and desserts and her weight is reasonably stable at 145 pounds. She views her appearance as gross and she hates herself because of this. 108

Eating Disorders II University of Manitoba Faculty of Medicine Med I/HD090 Dr. E. Gill 2006-07

Ms. T has been reasonably successful professionally. Since graduating from university, she has been employed by a large insurance firm and is progressing well in the middle-management ranks. She shares an apartment with a woman whom she views as her best friend but whom she has not told about her eating problem. Ms. T reports that her social life has been impaired by her concern about her eating and her weight. She is self-conscious about both and is reluctant to go to dinner with male friends because she fears that her strict dieting will seem incongruous in light of how fat I am.

Questions:

1. What diagnosis does this woman likely have now?

2. What would her diagnosis have been as an adolescent?

3. What features did she/does she exhibit to suggest the above diagnosis?

4. What is the difference between purging and nonpurging subtypes?

5. Describe and discuss other behavioural and psychological features of individuals who have Bulimia Nervosa.

6. Can you formulate a simple binge-purge cycle using your knowledge of the Starvation Syndrome?

7. What are other co-morbid conditions frequently seen with bulimia nervosa?

8. What are the medical complications of the binge/purging behaviour by system?

109

Substance Abuse in Pregnancy: Effects on the Fetus and Child University of Manitoba Faculty of Medicine Med I/HD107 Dr. A. Hanlon-Dearman 2007

Objectives:

1. Develop an awareness of the problem of substance abuse in pregnancy. 2. Be able to list the main psychosocial characteristics of the pregnant addict. 3. Understand the pharmacological basis of perinatal addiction. 4. Describe the short and long term effects on the fetus and the child caused by intrauterine exposure. 5. Learn the epidemiology, diagnostic features and long term outcomes of alcohol related birth defects. 6. Develop an awareness of the basis of preventative strategies.

Reference Readings (on reserve in Library)

 FASD Canadian Guideline CMAJ 2005; 172(5 suppl):S1-S21

1. The Problem of Substance Abuse in Pregnancy

 Overview

In the past decade there has been a dramatic increase in the number of women of child bearing age who use legal and illegal substances that have adverse effects on pregnancy. Substance abuse in pregnancy can have short and long term consequences for the infant. Examples of these substances are alcohol, cigarettes, prescription drugs, Heroin, amphetamines, cocaine and phencyclidine.

The 1994 Canadian Alcohol and Drug Survey indicates that 13 % of Canadians use opiate narcotics, 4.3 % use tranquilizers, 4.5 % use sleeping pills and 3 % use anti-depressants. Illicit drug use increased substantially across the country from 1993 to 1994. Use of cannabis increased from 4.2 % to 7.4 %, cocaine increased from 0.3 % to 0.7 % and LSD, speech or Heroin, increased from 0.3 % to 1.1 %. In 1993, Canadian police forces recovered 145,548 kg‟s of cannabis, 4,515 kg‟s of cocaine and 94 kg‟s of Heroin. There were 7,095 hospitalizations and 58,571 hospitalization days attributable to illicit drugs in Canada in 1992.

The exact number of women who abuse alcohol and drugs during pregnancy is unknown. In 1994, in Canada, the proportion of women age 15 years or older reporting use of selected drugs in the past year was as follows: Cannabis - 5 %; cocaine - 0.5 %; LSD, speed or Heroin - 0.7 %. The U.S. National Hospital Discharge Survey showed that from 1979 to 1990 there was a 576 % increase in the rate of hospital discharges of drug-using parturient women. A recent study in three nurseries in Toronto showed 6 % of 600 neonates screened tested positive for cocaine. The overall rate of exposure was 12 % in downtown and 3 % in suburban nurseries. In New York city the proportion of women in the known addicted population rose from 14 % in 1968 to 25 % in 1973 and in general, it is now estimated that women represent about 30 - 40 % of the clients in drug treatment programs.

110

Substance Abuse in Pregnancy: Effects on the Fetus and Child HD107

 Characteristics of the Pregnant Addict

The lifestyle of drug addicts is unstable and frequently involves contact with the legal system. The reliability of the patient history is low, and information obtained must be questioned. Frequently the addicts nutritional status is poor and usually less than 25 % of addicted pregnant women receive adequate prenatal care.

The type and availability of drugs varies widely from city to city. Abuse of more than one drug is common. The content of pharmacologically active agents in street drugs varies considerably from supplier to supplier and from day to day. Because simultaneous abuse of more than one drug is very common, “pure” study populations are virtually impossible to obtain. Pregnant women addicted have psychological components which antedate their pregnancies and which remain after parturition. Psychological as well as the physical components of addiction must be treated concomitantly.

When a pregnant woman undergoes acute withdrawal the fetus also experiences withdrawal. This may result in intrauterine death. Care of the pregnant addict should be multi-disciplinary with at least an obstetrician, a psychologist or psychiatrist and especially a trained nurse or social worker capable of offering guidance and support. Although most drugs used and abused do not produce congenital malformations, there are definite behavioral and neurological effects that impair the neonate‟s, infant‟s and child‟s development.

 The Pharmacological Basis

To understand the effects of drugs used during pregnancy we must look at the maternal-placental-fetal unit. It is easiest to study the pharmacokinetics and pharmacology of drugs in the mother and more difficult to study the placenta and the fetus. As a result, little human data is available. The time during pregnancy that the drug is taken is extremely critical. The first eight weeks of pregnancy, usually before the woman knows she is pregnant, are the most critical in terms of embryonic development. A spontaneous abortion may be the result of drug use.

The route of administration of the drug influences its ability to cross the placenta. Drugs taken orally may undergo a significant first-pass metabolism in the liver, the drug may be metabolized to an ionized form, enhancing urinary excretion and reducing its ability to cross the placenta. Drugs taken intramuscularly, intravenously or by inhalation do not undergo first-pass metabolism and may more readily cross the placenta following absorption from the site of administration. Plasma proteins gradually decrease during pregnancy, decreasing protein binding and making more free drug available.

Most drugs are able to cross the placenta to some extent, especially if given in large quantities over a prolonged period of time. Lipid soluble drugs and those with a molecular weight of less than 1000 cross the placenta more readily. Drugs bound to serum proteins are unable to cross the placenta because of the size of the drug-protein complex. The fetus and placenta can metabolize drugs.

The most obvious problems associated with drugs taken during pregnancy are dysmorphic effects. For any given drug there is a special level at which the malformations may occur. In order to achieve this threshold level the drug has to be taken in a sufficient dose and over a sufficient duration for that level to accumulate in the fetus. Not all of the embryos and fetus exposed to a drug develop problems and therefore there has to be some level of fetal susceptibility. Maternal, nutritional, social-economic and other factors can play a role that affect the developing fetus. The timing of particular events during pregnancy is critical in relation to teratology.

Recently there has been increased concern over behavioral teratology. This is usually less obvious than 111

Substance Abuse in Pregnancy: Effects on the Fetus and Child HD107

dysmorphic teratology and is not as easily recognized. Teratologic effects seem to be more prevalent if drugs are taken during the embryonic stage of development, this is during the first 8-12 weeks of gestation. During the fetal stage the most common drug effect is growth retardation. With a considerable brain development taking place during this period behavioral teratologic effects also occur. Substance abuse during pregnancy can cause spontaneous abortions, stillbirths, abruptio placenta and premature labor. The sex for drug connection has resulted in a high incidence of sexually transmitted diseases.

The short and long term effects on the fetus and the child may include prematurity, low birth weight, congenital infections, neonatal drug withdrawal, seizures, necrotizing enterocolitis, and long term behavioral and learning problems. Sudden infant death has been documented to be higher in this population, as well as child abuse and neglect.

Poly-drug abuse is a norm amongst substance abusing women. They routinely use cigarettes, alcohol and their primary drug simultaneously, further clouding the understanding of the effects of individual drugs and compounding the risk of adverse pregnancy outcomes on fetal injury.

 Cocaine and Other Stimulants

Cocaine and other stimulants are now the drugs of choice for women, with an estimated 13 % of women in the United States and 7% of women in Canada having used cocaine between the ages of 18 and 25 years. The pharmacologic action of cocaine relates to its ability to block reuptake of neurotransmitters by sympathetic nerve terminals, thereby allowing higher concentrations of neurotransmitters to interact with receptors. Cocaine interacts with three sets of neurotransmitters: norepinephrine, dopamine, and serotonin. Cocaine use results in a sense of well-being, increased energy, increased sexual achievement and an intense euphoria or “high”. This sympathomymetic action has potentially devastating effects on the cardiovascular system. Cocaine has been associated with cerebral hemorrhage, cardiac arrest, cardiac arrhythmias, myocardial infarction, intestinal ischemia and seizures. Chronic use is associated with anorexia, nutritional problems and paranoid psychosis. Women who use cocaine during pregnancy are at high risk for stillbirths, spontaneous abortions, abruptio placenta, intra-uterine growth deficiency, anemia and malnutrition, maternal death from intracerebral hemorrhage, fetal distress, premature labor and sexually transmitted diseases. Infants born to these women may have problems of prematurity, low birth weight, congenital infections, cerebral infarcts, necrotizing enterocolitis and increased rate of sudden infant death syndrome. Long-term behavioral and learning problems are also being reported in these children.

 Heroin

Heroin has been documented to have potentially devastating effects on the outcome of pregnancy. The majority of Heroin addicted pregnant women have poor general health with multiple medical problems associated with their drug abuse and addicted life styles. Obstetric complications include frequent abortions, abruptio placenta, chorioamnionitis, fetal distress, perinatal asphyxia and meconium aspiration. These mothers are more likely to deliver premature and intrauterine growth retarded infants. The pregnant addict is subject to episodes of withdrawal and overdose, thereby subjecting the fetus to intermittent episodes of hypoxia in utero. The classic neonatal withdrawal or abstinence syndrome was first described in these infants and long-term developmental and learning problems are common. SIDS, child abuse and neglect are also more common.

112

Substance Abuse in Pregnancy: Effects on the Fetus and Child HD107

Because of the association between fetal withdrawal, perinatal asphyxia and intrauterine death, detoxification of pregnant Heroin abusers is rarely attempted and most women are treated via methadone maintenance until the end of pregnancy. It is crucial to provide a stable intrauterine environment. Comprehensive prenatal care aimed at improving the general health and nutritional status of the mother is very important.

 Smoking

Cigarettes are the substance most often used during pregnancy. An estimated 25 % of pregnant women smoke cigarettes. Cigarette smoking during pregnancy has been associated with an increased risk of spontaneous abortion, stillbirths, prematurity and SIDS. The degree of IUGR is related to the number of cigarettes smoked. One pack per day correlates with a 280 gram weight loss in a term newborn. Cigarettes contain a number of potentially toxic compounds. Smoking induces fetal hypoxia either from carbon monoxide production or from nicotine-induced vasospasm. A direct cyto-toxic effect has not been ruled out.

Marijuana is the illegal drug that is probably most frequently used during pregnancy. Marijuana causes IUGR and a mild withdrawal syndrome. There is no well documented evidence of long-term sequelae.

Neonatal Abstinence Syndrome

The neonatal abstinence or withdrawal syndrome is a combination of signs and symptoms in newborns who are withdrawing from an addictive drug at birth after repeated exposure inutero. Withdrawal syndromes have been described for narcotic and for a variety of non-narcotic drugs. The most consistent in terms described are neurological including jitteriness, restlessness, tremulousness and, on occasion, seizures. Irritability, hypertonicity and other manifestations of brain hyperactivity are also present. Gastrointestinal symptoms such as vomiting and diarrhea may lead to dehydration and failure to gain weight. Poor feeding is associated with poorly coordinated sucking and swallowing. Other findings may include high-pitched cry, sleep disturbances, fist sucking, excessive sweating, flushing, intermittent fever, tachypnea and even respiratory distress.

Clinically, neonatal withdrawal syndromes appear similar despite the diversity of the causative agents. Heroin, cocaine and amphetamine withdrawal usually occurs within the first 48 hours of birth in most infants, depending on the timing and amount of the mother‟s last dose. The acute phase lasts for 5 to 10 days, although mild symptoms may persist for up to 4 weeks.

2. Alcohol and Pregnancy

It is estimated that worldwide, 0.33 to 1.9 of each 1000 babies are born with the fetal alcohol syndrome (FAS). Alcohol consumption as a beverage or a medicine dates to the beginning of civilization. The damaging effects of alcohol on the unborn baby were already known in biblical times. The Book of Judges (13:7) says: "Behold, thou shalt conceive, and bear a son: and now drink no wine or strong drink." In Ancient Rome couples were forbidden to drink alcoholic beverages on their wedding night, for fear of conceiving a defective child. In 1736 the College of Physicians in London, England reported that drinking during pregnancy is "a cause of weak, feeble and distempered children." Despite this early knowledge, a lack of interest on the effects of alcohol during pregnancy prevailed until 1968 when a French physician, Dr. P. Lemoine, reported distinct birth defects in a group of children born to alcoholic mothers. In 1973 an American physician, Dr. K. Jones described a similar pattern of characteristics which he named the fetal alcohol syndrome (FAS). Although thousands of scientific papers have been published since then, FAS is still the leading known cause of mental retardation in children.

113

Substance Abuse in Pregnancy: Effects on the Fetus and Child HD107

The risk of FAS and the severity of the damage are related to the timing and amount of alcohol consumption during pregnancy, independent of the type of beverage. Any beverage containing alcohol: beer, wine or spirits, can put the baby at risk. FAS occurs in babies of women of any age and race. After being absorbed by the mother alcohol crosses the placenta and easily enters the baby's blood, reaching vital organs such as the brain and heart. It is then eliminated into the amniotic fluid surrounding the baby, who by now is literally in an "alcohol bath." The damaging effects of alcohol are not limited to the first three months of pregnancy, a time when the baby's organs are being formed. Maternal alcohol consumption as early as at the time of conception increases the risk of spontaneous abortion and consumption during mid and later pregnancy can cause more brain damage and profound delay in the baby's growth.

The most important characteristics of the fetal alcohol syndrome are:

- Brain damage: microcephaly (small head size resulting from poor brain growth) irritability in infants hyperactivity and learning disabilities in older children mild to moderate mental retardation

- Poor Growth: decreased weight and length at birth and poor growth throughout life. FAS children remain lighter and shorter than normal children of the same age.

- Abnormal facial features: Eyes - narrow eye slits Nose - short, turned upward Mouth - smooth, long upper lip with a thin vermilion small chin

Other less common anomalies: Heart defects Cleft lip or cleft palate

The diagnosis of FAS is made when characteristics from these three main groups of features are evident: brain damage, poor growth and an abnormal face. The term fetal alcohol effects (FAE) is reserved for infants who have been exposed to alcohol before birth and have some but not all of the FAS features. At the moment there are no specific tests to diagnose FAS, except for the combination of features described above. The diagnosis of the less severe, more subtle forms of alcohol-related birth defects is even harder, making it difficult to know how common they are.

The damaging effects of alcohol persist throughout the life of the individual. Many infants and children with FAS grow up in foster homes. As adolescents and adults they are usually small, abnormally active, easily distractible and have learning difficulties. Although of a pleasant disposition, they have great difficulties adapting to society, need close supervision, and often end abusing alcohol or drugs themselves and in trouble with the law. Although there is no specific treatment for FAS, some of the associated medical conditions such as heart defects and cleft lip or palate can be corrected with surgery. Additional services are needed to help parents and affected individuals to cope with behavioral problems and learning difficulties.

114

Substance Abuse in Pregnancy: Effects on the Fetus and Child HD107

All alcohol-related birth defects, FAS included, are totally preventable: they only occur in babies born to women who have abused alcohol during pregnancy. Studies have shown that 40% of infants born to women who had six or more alcoholic beverages daily during pregnancy had FAS. Approximately 10% of babies born to women who had two to four alcoholic drinks a day were affected with FAS. Although the frequency of the less severe forms of alcohol damage is not well known, babies born to heavy and moderate drinkers have usually a lower birth weight, more birth defects, and a higher risk of intellectual deficits.

FAS does not occur in babies born to alcoholic fathers (unless the mother abused alcohol during pregnancy as well). However, there is evidence that alcohol affects the sperm. Research in this area is scarce, but a few studies of couples with an alcoholic father suggested an increased risk of spontaneous abortion and their infants weighed less than normal at birth.

The full-blown fetal alcohol syndrome has been found only in infants of women who had at least two to four alcoholic drinks daily for prolonged periods of time. Although FAS has never been reported among infants of "social" or "occasional" drinkers, a safe amount of alcohol consumption during pregnancy has never been established. Is there a level of alcohol consumption at which there is no increased risk for spontaneous abortion or subtle growth and intellectual deficits in the baby? Until such a time when this question can be answered, it is prudent to recommend that women who are pregnant or considering to become pregnant abstain from alcohol. The risk to the baby increases with the amount of alcohol consumed. Women who had a few drinks before realising that they were pregnant should just stop drinking alcoholic beverages altogether until the end of pregnancy and lactation (breast feeding).

Research indicates that alcohol consumed by nursing mothers is excreted in small amounts in the breast milk, changing its odour. This may cause the infant to feed poorly. Although the actual amount of alcohol ingested by the baby is just a fraction of that consumed by the mother, infants exposed to it regularly were found to have delays in motor development at one year of age. Therefore, it is recommended that nursing mothers avoid alcoholic beverages as well.

Ugmeword-handouts1-HD-107-2006-07 115

Clinical Cytogenetics I University of Manitoba Faculty of Medicine Med I/ HD125 Dr. A. Chudley 2007-2008

HD125 – Clinical Cytogenetics I Lecture

Reference Required Reading Thompson and Thompson. Genetics in Medicine 2001, 6th Edition. Nassbaum et.al. Chapter 10.

Objectives After the following session, the student will be able to:

1) Define cytogenetic technology (banding and FISH) and nomenclature;

2) List three major autosome and four major sex chromosomes of each of the aneuploidy syndromes (abnormality of chromosome number) and outline the principal cytogenetic and clinical features of each;

3) List six types of abnormalities of chromosome structure and define their clinical significance;

4) Define microdeletion and contiguous gene syndromes, and uniparental disomy and state application of FISH in each;

5) State the frequency of chromosome abnormalities at conception and miscarriage and list five clinical indications for chromosome analysis; and

6) Explain the role of chromosome rearrangements in malignancies and the chromosome instability syndromes.

Clinical Cytogenetics The study of chromosomes and their abnormalities is called cytogenetics. Chromosomes package the nuclear DNA that code for the 30,000 structural genes, and consist of the DNA and the protein called histones that keep the DNA in a tight bound format. Chromosomes are visible under light microscopy during mitosis and meiosis. Typically, they are examined during metaphase of the cell cycle in any tissue that is rapidly replicating and dividing, especially the blood, bone marrow, skin or amniocytes. Chromosomal analysis involves the construction of a karyotype, in which the chromosome pairs are placed together from photographs of a metaphase spread of banded chromosomes. This allows the cytogeneticist to analyze the chromosomes in an orderly, comparative fashion. To be visible, chromosomes require a process that allows a partial proteolytic digestion of the histone and staining by certain dyes (quinacrine, Giemsa, etc). This process is called banding, that allows us to recognize each of the pairs, as each chromosome pair has its own unique banding pattern. Human chromosomes can be metacentric, submetacentric or acrocentric in appearance, (depending on whether the centromere is central, below the centre or near the top end of the chromosome). The centromere defines the short arm (designated p) and the long arm (designated q) of the chromosome. Humans have 46 chromosomes (23 pairs; the euploid state for humans is diploid) in each nucleated cell of our; 22 autosome pairs, and one pair of sex chromosomes, either XX (in females) or XY (in males). Mature sperm and oocytes contain the haploid number (23), or one of each chromosome pair. Abnormalities in the number (aneuploidy) or the structure of the chromosomes will predictably lead to adverse health problems, birth defects or mental deficiency, depending on the chromosomal abnormality present.

Numerical Chromosome Abnormalities Trisomy 21 (Down syndrome) is the result of a non-disjunction during meiosis involving the chromosome 21 pair. This error often occurs during oogenesis, and results in the child having 3 copies of chromosome 21 instead of 2 copies. Less than 5% of Down syndrome individuals have an unbalanced chromosome complement due to a Robertsonian translocation (half of which can be inherited from a parent). Also, about 3% will be mosaic, that is, have one normal cell line and one trisomy 21 cell line.

116

Clinical Cytogenetics I University of Manitoba Faculty of Medicine Med I/ HD125 Dr. A. Chudley 2007-2008

Almost all chromosome pairs have been associated with trisomy, but most result in miscarriage as they are lethal. Other autosomal trisomies that can result in live birth but be associated with a child with multiple congenital anomalies (MCA) include Trisomy 13 (Patau syndrome), Trisomy 18 (Edward syndrome). Monosomy for any whole autosome is lethal. Sex chromosome abnormalities include 47, XXY (Klinefelter syndrome); 47, XXX (Triplo X or ―super female‖); 47, XYY (―super male‖). These disorders can be associated with mild learning difficulties and occasionally mental retardation. They tend to be tall, and Klinefelter syndrome males have infertility (azospermia or absent of sperm due to a defect in spermatogenesis). Monosomy X is associated with a 45, X karyotype. Females with this finding have Turner syndrome. They are short with infertility due to streak ovaries There are several other abnormalities due to Poly X conditions that are associated with a more severe phenotype and disabilities. They are very rare.

Structural Chromosome Abnormalities Both intra- and inter-chromosomal abnormalities have been described. Some are inherited from carrier parents. Some are sporadic, and arise de novo following errors during gametogenesis. Chromosomes can have inversions, (either pericentric—break points on both the q and p arms with rejoining after inverting around the centromere or paracentric— break points on either the q or p arms with rejoining after an inversion of the involved segment not involving the centromere). Ring chromosomes can be present if breaks occur at both tips of the chromosome and the two tips join each other to form a ring structure. If balanced, these rearrangements will not likely alter the phenotype. If unbalanced, where there is either a deletion or duplication of genetic material resulting from unequal crossing over during meiosis from a carrier balanced parent, an altered phenotype would be predicted. Reciprocal Translocations result from the exchange of chromosome material between two different chromosomes. Carriers for balanced translocations are predictably phenotypically normal. However, their offspring can be normal, balanced or unbalanced (since abnormal segregation can occur and lead to multiple defects due to partial duplications and deficiencies). Robertsonian Translocations are the fusion of two acrocentric chromosomes involving the same pair or from two chromosomes of a different pair. Balanced carriers are phenotypically normal, but unbalanced segregation during meiosis can lead to unbalanced offspring. Other chromosome abnormalities can include isochromosome formation, and duplication or deletion of segments involving single chromosomes. Some syndromes with this category of abnormalities include 4p deletion (Wolf- Hirschhorn S.); 5p deletion (Cri-du-chat S.); 18q deletion (De Grouchy syndrome), etc. Some microdeletion syndromes require confirmation using specialized testing called molecular cytogenetic probes such as fluorescent in situ hybridization (F.I.S.H.). Some of these microdeletion syndromes, also referred to as contiguous gene deletion disorders, include Williams S. (7q1), Miller-Dieker S. (17p13.3), Smith-Magenis S. (17p11.2), DiGeorge/ velocardiofacial S. (22q11.2). An interesting situation exists with the disorders called Prader-Willi S. and Angelman S. Both these syndromes can be due to 15q12 deletion or result from other mechanisms such as unilateral disomy or errors in the imprinting gene). In the case of Prader-Willi S, the child is missing or not expressing a segment of the paternal chromosome 15q11-13. In Angelman S., the maternal chromosome 15q11-13 is missing or functionally not expressed.

Cancer cytogenetics is a specialized area of study. A variety of chromosome abnormalities have been associated with different cancers, particularly leukemia, as well as solid tumours. Some cytogenetic anomalies can be acquired while others can be inherited. Some are expressed as unbalanced karyotypes, others present with evidence of chromosomal instability and excessive breakage, due to gene mutations resulting in faulty DNA replication or repair.

When to do a chromosome study?  To confirm a suspected chromosome abnormality or syndrome  Unexplained mental retardation  Multiple congenital anomalies of unknown origin  Stillborn infants with anomalies 117

Clinical Cytogenetics I University of Manitoba Faculty of Medicine Med I/ HD125 Dr. A. Chudley 2007-2008

 Individuals with relatives who have a chromosome abnormality that can be inherited  Couples with repeated miscarriages with no other medical explanation  Fetal studies (such as amniocentesis) in women pregnant over the age of 35 years, or those who have had a previous child with a chromosome abnormality, or those who have an abnormal finding on fetal ultrasound or those with a positive maternal serum screen predicting a higher risk for trisomy.  Infertility in males or females  Ambiguous genitalia  In those with certain malignancies

These notes are to supplement your reading of the text and your attendance to the tutorials.

118

Eating Disorders I University of Manitoba Faculty of Medicine Med I/HD126 Dr. E. Gill 2007-08

Objectives

1. Describe the clinical features of anorexia nervosa and bulimia nervosa. 2. Discuss the etiological factors that contribute to the development of eating disorders, including biological, psychological and sociocultural factors. 3. List the medical complications of eating disorders.

Required Reading

Introductory Textbook o f Psychiatry, Andreasen & Black, 4th Edition, pp. 327-340. 7/24/2009

Examples

• Mary Kate Olsen

EATING DISORDERS • Nicole Richie

ANOREXIA NERVOSA • Princess Diana BULIMIA NERVOSA

Statistics Anorexia Nervosa & Bulimia Nervosa

• Prevalence 4% • Both have: • Individual symptoms fairly common • Preoccupation with weight • 90-95% female • Desire to be thinner • Age of onset generally teens & early adulthood • Not mutually exclusive • 50% of anorexic pts will also have bulimia

DSM IV Criteria for Anorexia Nervosa

• Refusal to maintain body weight at or above a • Disturbance in the way in which one’s body minimally normal weight for age and height weight or shape is experienced, undue (<85% of expected weight) influence of body weight or shape on self • Intense fear of gaining weight or becoming fat, evaluation, or denial of the seriousness of even though underweight current low body weight • Absence of at least three consecutive menstrual cycles

1 7/24/2009

Anorexia Nervosa Binge- Anorexia Nervosa Restricting Type eating/purging Type • During the current episode of anorexia, the person has regularly engaged in binge-eating • During the current episode of anorexia or purging behavior nervosa, the person has not regularly engaged • Self induced vomiting or the misuse of in binge-eating or purging behavior laxatives, diuretics or enemas

Anorexia Nervosa Epidemiology of Anorexia Nervosa

• Markedly restrict calories • 0.5% lifetime prevalence in women for narrowly defined disorder • Strange dietary rituals • 3.7% for more broadly defined anorexia nervosa • • Compulsive exercise Male-female prevalence ranging from 1:6 to 1:10

• Incidence is increasing • Onset 12-25 • Generally seen in countries where there is an • Bimodal peaks 14 and 18 abundance of food • Increasing cases in minorities, prepubertal • Japan is the only non-Western country with children, women of all ages figures comparable to US • Increasing in other countries • Upper social class, recently filtering down the social class

2 7/24/2009

Bulimia Nervosa DSM IV Criteria

Recurrent episodes of binge eating with: • Recurrent inappropriate compensatory • Eating, in a discrete period of time, an amount behavior in order to prevent weight gain, such of food that is larger than most people would as self-induced vomiting, misuse of laxative, eat diuretics, fasting, or excessive exercise • A sense of lack of control over eating during • Binge eating and inappropriate compensatory the episode behaviors occur at least twice a week for 3 months

Types

• Self-evaluation is unduly influenced by body • Purging type shape and weight • The disturbance does not occur exclusively • Non-purging type during episodes of anorexia nervosa

Prevalence of Bulimia Nervosa Epidemiology

• Females: Lifetime prevalence 1.1to 4.2% • Seen in industrialized society • Largely female • Males: Lifetime prevalence 0.1% • Dramatic increase in past 20-30 years • Onset late adolescence to early adulthood

3 7/24/2009

Film Anorexia Nervosa

Comorbidity in Anorexia Nervosa Outcome of Anorexia Nervosa

• Major Depression or Dysthymia 50-75% • Percentage who fully recover is modest • Bipolar disorder 4-6% • OCD 25% • Minimum 4 year follow up study: • Anxiety disorders (esp social phobia) • 44% good outcome (weight restored to within • Substance abuse 12-18% (primarily 15% of recommended, regular menstruation binge/purge type) established) • Personality disorders 42-75% (cluster C)

• 24% poor (weight never reached within 15% • 2/3 continued to have enduring food and of recommended, menstruation absent or weight preoccupation sporadic) • 40% have bulimic symptoms • 28% outcome between these two

• 5% had early mortality

4 7/24/2009

10-15 year follow up study

• 76% of whom met criteria for full recovery, • 1995 meta analysis suggests a 5.6% mortality time to recovery was quite protracted (57 to rate per decade 79 months) • Of all psychiatric disorders, the greatest excess • Anorexic patients with atypical features did of patient mortality is associated with eating better disorders and substance abuse

Poorer Prognosis

• Lower minimum weight • Patients with anorexia nervosa who purge • Presence of vomiting have much greater risk for developing serious • Failure to respond to previous treatment medical complications • • Disturbed family relationships before illness In general, adolescents have better outcome onset than adults, and younger adolescents have better outcome than older adolescents • Marital status (being married)

Medical complications related to Differential Diagnosis Weight Loss • Large number of medical and psychiatric • Cachexia disorders can present with symptoms of • Cardiac weight loss and appetite disturbance • Digestive/GI • Reproductive • Dermatologic • Hematologic • Neuropsychiatric

5 7/24/2009

Physical Signs of Anorexia Nervosa Physical changes (continued)

• Emaciated appearance • Periphery is cold and cyanotic • Skin is dry, sometimes with a yellowish • Body temperature may be reduced discoloration • Reduced pulse rate • Up to 29% have lanugo • Edema (20%) of lower extremities • Brittle hair and nails, loss of scalp and pubic • Pathological fractures (rare) hair • Orthostatic changes and hypotension

Causes of Death

• Suicide

• Sudden cardiac arrhythmias Bulimia Nervosa

• Starvation

Comorbidity Prognosis

• Depression and Dysthymia 50-75% • Little known about long term prognosis • Bipolar disorder 4-6% but as high as 13% • Short term success rate 50-70% • Substance abuse 30-37% • Relapse rates between 30-50% in 6 months to • Personality disorder 42-75% (cluster B and C, 6 years of follow up especially Borderline and Avoidant) • Slow improvement continues as the period of follow up extends 10-15 years

6 7/24/2009

Prognosis Differential Diagnosis

6-year follow up: • Need to rule out a number of medical and • 60% good outcome psychiatric illnesses • 29% intermediate success • 10% poor • 1% deceased

Physical Signs in Bulimia Nervosa Physical signs (continued)

• Lesions on the dorsum of the dominnat hand • Dental complications are frequent (Russell’s sign) - more common early in the • Erosion of the enamel and secondary illness decalcification • Hypertrophy of the salivary glands, • Increased temperature sensitivity particularly parotids (bilateral and painless) • Increased rate of caries development • 27.8% had elevated serum amylase • Muscle weakness • Peripheral edema

Medical Complications related to purging

• Dental • Metabolic Etiology of Eating Disorders • Digestive/GI • Neuropsychiatric

7 7/24/2009

Etiology--Biological Theories Etiology -- Psychological Theories

• Hypothalamic abnormality • Maladaptive learned responses that reduce • Variants of a mood disorder (esp bulimia) anxiety • Genetics • Cognitive distortions • “autointoxication” with endogenous opioids • Distortions of perceptions and interoceptions • Starvation and malnutrition (study on normal • Way of putting off tasks of adolescence volunteers)

Social and Cultural Factors • Prevalence has increased dramatically over • Weak sense of self and low self worth past few decades • Prevalence parallels society’s attitudes about • Family factors beauty & fashion • Current increase in prevalence parallels steadily decreasing weights for heights among fashion models, etc.

High Index of Suspicion

• Want to weigh too little • Overuse of laxatives or diuretics • Menstrual irregularities • Mood disturbance • Infertility • Signs of self induced vomiting --puffy cheeks, • Overconcern with weight or appearance scars on knuckles, decay of the front teeth • Vague GI complaints • Laboratory signs --mild disturbances in serum electrolytes, serum amylase