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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?) 2 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). 3 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
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