The Effects of Chromosomal Variances. Introducing Sex Chromosomal Anomalies by Cherylann Caspersen

Home , Trisomy, Trisomy X, XXYY syndrome

The effects of chromosomal variances. Introducing Sex Chromosomal Anomalies By CherylAnn Caspersen

1 http://www.ornl.gov/sci/techresources/Human_Genome/publicat/primer2001/primer.ppt#296,22,Slide 22

2 Introduction to

¾ Everyone has a different genetic code, given to us by our parents. ¾ What we inherit ,shapes who we are , how we learn, and what we have a predisposition to . Be it muscular dystrophy, cancer, back problems. The lists are endless. ¾ We inherit genes not only from our parents but from our ancestors as well. ¾ Genetic markers can now determine where you originated from.

3 Chromosomes are compact spools of DNA. If you were to stretch out all the DNA from one of your cells, it would be over 3 feet (1 meter) long from end to end! You can think of chromosomes as "DNA packages" that enable all this DNA to fit in the nucleus of each cell. Normally, we have 46 of these packages in each cell; we received 23 from our mother and 23 from our father.

Why do chromosomes look like this? Chromosomes are very small but can be specially prepared so we can see them using a microscope. Chromosomes are best seen during mitosis (cell division), when they are condensed into the fuzzy shapes you see here. Chromosomes taken from dividing cells are attached to a slide and stained with a dye called Giemsa (pronounced JEEM-suh). This dye gives chromosomes a striped appearance because it stains the regions of DNA that are rich in adenine (A) and thymine (T) base pairs. Why do scientists look at chromosomes? Scientists can diagnose or predict genetic disorders by looking at chromosomes. This kind of analysis is used in prenatal testing and in diagnosing certain disorders, such as Down syndrome, or in diagnosing a specific type of leukemia. Such diagnosis can help patients with genetic disorders receive any medical treatment they need more quickly.

http://learn.genetics.utah.edu/units/disorders/karyotype/whatarechrom.cfm

4 Microscopic look at the X and Y chromosome

• From the following article: • Genome biology: Tales of the Y chromosome • Huntington F. Willard • Nature 423, 810-813(19 June 2003) • doi:10.1038/423810a From the following article: Genome biology: Tales of the Y chromosome Huntington F. Willard Nature 423, 810-813(19 June 2003) doi:10.1038/423810a

http://www.nature.com/nature/journal/v423/n6942/fig_tab/423810a_F1.html

5 Chromosomes and Chromosomal anomalies

• In each human cell, except the egg and sperm cells, there are 46 chromosomes, comprised of 23 pairs. The chromosomes are numbered according to their size (see Genetics Fact Sheet 1). When egg and sperm cells are formed, the chromosome pairs separate so that there is only one of each pair in these cells i.e. 23 chromosomes instead of 46. A baby is formed when the egg from the mother and the sperm from the father come together; the baby now has two copies of each chromosome (46 chromosomes) just like the parents. One copy of each chromosome will have come from the mother and one copy from the father.

• Sometimes, when the egg and sperm are forming, a mistake occurs so that the chromosome pairs do not separate in an ordered fashion. The result is an egg or sperm cell that has only 22 chromosomes while others have 24 chromosomes. If an egg or sperm carrying 24 chromosomes combines with an egg or sperm carrying the usual 23 chromosomes, the result will be an individual with cells in which there are 47 chromosomes instead of 46 (Figure 1). Thus there will be three copies of a particular chromosome in the cells rather than two (see Genetics Fact Sheet 12).

http://www.genetics.com.au/factsheet/30.htm

6 Genetic definitions

¾ Mosaicism. Mosaics happen when only some of the cells are compromised. It means that under examination some cells show 46 chromosomes and others have 47, 48,49 chromosomes.

¾ It is hard to determine how having a mosaic chromosome line affects each individual person. Some have less effects while others may show more effects than those who are a true xxy, xxx, x . It depends on what cells or genes are affected. There is no definitive answer to why and how if affects a person.

¾ Trisomy- Trisomies occur when there are more than two chromosomes found in individual cells. Trisomy 21- Down syndrome is an example of this. There has been some fears in the past that trisomies mean higher risk of mental retardation and psychosis. This is not necessarily true.

¾ Background history on Trisomy: Back in the late 1950’s Researchers went to prisons and psychiatric hospitals to discover why they were there and it was determined thru blood tests that the women there had xxx. When they did further research into their back ground they found instability, learning disorders , abuse and lack of family support as precursor to being institutionalized.

¾ Monosomy- happens when there is only one chromosome passed on to the cells.

7 Sex determination.

¾ How is the sex of an individual figured out?

¾ X is the symbol for Female and the female carries 2 x chromosomes ¾ Y is the symbol for male and it carries both an x and a y chromosome ¾ So when conception occurs and cells are divided the end result is ¾ X + X = FEMALE

¾ Y + X = MALE • Now when there is a missing x chromosome (May be present but defective) ¾ X + 0 = FEMALE (Turner Syndrome) occurs • When an extra X chromosome is found in the cell ¾ Y + X + X = MALE (Klinefelter Syndrome) occurs

¾ What chromosomes do all males have that the females don't have?

• It’s the Y chromosome

¾ The Y chromosome is responsible for kick starting the process to create a male. ¾ It is the male who determines the sex of the child as he is the only one who carries the X chromosome. ¾ The male inherits a copy of his fathers genetic material. And it is through this that one can determine his lineage .. •

8 The X Chromosome.

¾ Research has shown that that there are 70 genes on the x chromosome that are believed to cause learning disabilities. ¾ There are 287 diseases attributed to the X chromosome. ¾ The X chromosome likely contains between 900 and 1,400 genes. ¾ There are 70 genes believed to be the cause of learning disorders.

9 Genes

• It has been determined by geneticists that there are approximately 25,000 -30,000 genes attached to each chromosome. • So there are endless possibilities for there to be some sort of gene mixup or chromosomal variation. • What is gene testing?

Gene testing involves examining a person's DNA - taken from cells in a sample of blood or, occasionally, from other body fluids or tissues - for some anomaly that flags a disease or disorder. The DNA change can be relatively large: a missing or added piece of a chromosome - even an entire chromosome - that is visible under a microscope. Or it can be extremely small, as little as one extra, missing, or altered chemical base. Genes can be over expressed (too many copies), inactivated, or lost altogether. Sometimes, pieces of chromosomes become switched, or transposed, so that a gene ends up in a location where it is permanently and inappropriately turned on or off. • In addition to studying chromosomes or genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant genes. • http://www.accessexcellence.org/AE/AEPC/NIH/gene09.html

• There are recessive genes and dominant genes and they play a major role in what you inherit from each of your parents.

10 Give it a try : test your dominate traits!

• Heredity and Genetics

• Determining Your Genes: • Did you know that your genes determine whether or not you possess certain physical traits? Well, they do. It's your genes that make you blue eyed or brown eyed, or have brown or blond hair. These traits are highly complex, and involve the interaction of many genes. However, several traits are determined by only one gene, and if you have the gene then you have the trait. • You have two genes for every trait. You get one from your mother and one from your father. Certain genes are dominant, and you only need one of the pair to give you its trait. If you don't have a dominant gene, then you are recessive for that trait. Dominant genes are represented as capital letters and recessive genes as lower-case letters. Circle which genes you possess for each of the following traits. • Tongue Rolling: Can you roll your tongue into a U-shape? Try it. If you can, then you possess the dominant gene and should circle "T-". If you can't roll your tongue, you have two recessive genes, and should circle "tt". Tongue Rolling T- tt (circle one)

• T tt

• Attached Earlobes: Have a partner examine your earlobes. If they hang free at the bottom, you are dominant (E-). If they are attached, you are recessive (ee). Attached Earlobes

• E ee

11 Interlocking Fingers: Fold your hands together by interlocking your fingers. Which thumb is on top? If the left thumb is on top, you are dominant (I-). If the right thumb is on top, you are recessive (ii). Interlocking Fingers I- iiDimples: Dimples are a dominant trait (D-). If you don't have dimples, you are recessive (dd). Dimples D- dd

Sex: Males possess a "Y" chromosome and should circle XY. Females possess two "X" chromosomes and should circle XX. Sex XY XX

Bent Little Finger: Look at the little finger on each hand. If they bend in toward your ring finger, you have the dominant gene.

Double Jointed Thumb: If you have double jointed thumbs, you have the dominant gene. Double Jointed Thumb

Freckles: If you have freckles then you have a dominant gene (F- ). If you don't have freckles then you are recessive (ff). Freckles

PTC Taste: Chew a taste strip. Some people can taste PTC, and others cannot. If the strip tastes bitter to you, you are a "taster" and have the dominant gene for this trait (P-). If the strip doesn't taste like anything, you are recessive (pp). 70% of the people in the United States are "tasters". Is anyone in the room a "non-taster"??

Sodium Benzoate Taste: Different genes determine if you can taste sodium benzoate. If it tastes salty, bitter, or sweet to you, then you have the dominant gene (S-). If you don't taste anything, you are recessive (ss).

Widow's Peak: If your hairline is shaped in a downward "V", then you are dominant for that gene (W-).

The University of Arizona http://http://student.biology.arizona.edu/sciconn/heredity/worksheet_heredity.html

12 How chromosomal anomalies are discovered. . ¾ It is often discovered during prenatal examinations, thru blood work, ultra sounds and more invasive procedures like the Chorionic Villus Sampling (CVS) and amniocentesis ¾ McMaster did a trial run of taking ultrasounds of the baby’s neck fold area and blood work to simultaneously come up with probabilities of chromosomal or genetic anomalies'. These tests were run between the 10th and 12th week whereas the CVS and amnio are done later. ¾ When a person is older ,diagnosis is done thru blood tests. Often it is decided to look at genetics as a last resort when all other testing has failed to provide results Some times it is done by geneticists. ¾ Other times it is just a fluke that an anomaly is diagnosed while looking for another medical diagnosis. ¾ There is a new genetic test that screens for fragile X will be coming on the market within the next year or two. It is a non-invasive test so it may become part of the routine pregnancy blood work. Because it is targeting the X chromosome, it will pick up fragile X, Klinefelter’s and Trisomy X. The diagnosis will no longer be only for those few getting amniocentesis or for girls with difficulties.

13 Amniocentesis

¾ Amniocentesis is a form of genetic testing that takes place during the 16th week of pregnancy. ¾ It is usually done on women who are 35 years and older or on whom who have had positive results for genetic abnormalities with the CVS. ¾ The amnio is done in the hospital and with the use of ultra sound to determine the fetal position a needle is inserted into the amniotic sac and filled with amniotic fluid which is sent out for testing. It takes 2 weeks for results ¾ While the test is good for what it can tell you , it had its draw backs in that is can cause instantaneous abortion, early onset contractions. ¾ It is not a test that should be approached lightly!

14 Chorionic Villus Sampling (CVS)

• Chorionic villus are tiny fingerlike projections found in the placenta. The genetic material in chorionic villus cells is identical to fetal cells. During CVS, a sample of the chorionic villus cells is taken for biopsy. The general health of your baby can be predicted by examining the chorionic villus cells for abnormalities. The procedure is usually done during the first 3 months of pregnancy, ideally between the 10th and 12th weeks. CVS generally is not done after the 13th week of pregnancy because increasing amounts of amniotic fluid make the procedure more difficult. • The chorionic villus sample is usually collected by inserting a thin flexible tube (catheter) through the vagina and cervix into the placenta. However, the sample can also be obtained by inserting a long, thin needle through the abdomen into the placenta. Ultrasound is used to guide the catheter or needle into the correct position for collecting the sample. http://www.webmd.com/hw/being_pregnant/hw4104.asp • The problems with CVS is that diagnosis is not always correct and there have been cases of false positives which causes a lot of stress to both mother and child. ¾ With the false positives it requires further investigation by means of an amniocentesis. ¾ There has also been cases that CVS has reported negative results only to have the child born with down syndrome or some other genetic or chromosomal anamoly. ¾ Most women who opt for genetic testing go for reassurance and with the knowledge that if there is something wrong then they have time to deal with it should it be something fatal or more as an education on how to prepare this child for the life ahead.

15 Test results.

¾ Once the tests come back and if a anomaly is found then an appointment with a genetic counselor is made as well as an appointment for an anatomical ultrasound to determine if there are any other underlying issues. ¾ At this time parents are usually given the option of terminating the child. This appointment can be heartbreaking depending on what information is made available. ¾ What is truly unfortunate about this is that while Geneticists try their best to provide information and comfort they forget that there are anxious parents sitting in front of them. ¾ A lot of the research they are able to give you is limited to horror stories and negative out comes. ¾ Up until a few years ago , research into sex chromosomal variances were limited and prognosis was usually dire. ¾ Parents are often left to research this on there own in hopes of finding support and current and hopeful advise. ¾ Luckily in the age of the internet there is a lot information available and great support groups to help new parents cope and lets parent of older children share their experiences.

16 Sex Chromosomal Anomalies (SCA) ¾ Sex chromosomal anomolies are those that go beyond the simple XX or XY at conception. ¾ There are many more that are not listed here. ¾ There is the XXY (Klinefelter Syndrome) ¾ Triple XXX Syndrome ¾ Fragile X ¾ XXYY ¾ Turner Syndrome ¾ There are also cases where there are multiple duplication of chromosomes like XXXX and XXXXX

17 Aneuploidy and chromosomal rearrangements in humans

Condition Karyotype Frequency Traits

Down Syndrome 47, XX or XY, +21 1/700 Mental retardation, heart defects, high risk of leukemia. Edward Syndrome 47, XX or XY, +18 1/10,000 Mental retardation, elfin appearance.

Patau Syndrome 47, XX or XY, + 13 1/20,000 Cleft palate/lip, heart defects, polydactyly, mental retardation. Turner Syndrome 45, X 1/10,000 Underdeveloped ovaries, abnormal jaw, webbed neck, shield-like chest. XYY Karyotype 47, XYY 1/1,000 Often taller, maybe lower in intelligence.

Klinefelter Syndrome 47, XXY 1/1,000 Taller and often infertile.

Metafemale (triple x) 47, XXX(+) 1/1,000 Mild mental retardation, possible infertility.

Fragile-X syndrome 46, XX or XY 1/1,250 m Mental retardation, altered speech 1/2,000 f patterns, large testis in males (macroorchidism) Cri-du-Chat Syndrome 46, XX or XY, 5p- Microcephaly, Severe mental retardation, heart defects. Familial Down Syndrome 46, XX or XY, Same as Down’s Syndrome.

+21p

http://www.puc.edu/Faculty/Bryan_Ness/Chromosomal_Anomolies.htm

18 Now for an in-depth review of a few Sex Chromosomal anomalies' you may encounter in an educational setting.

• XXY Klinefelter Syndrome. •47XXX • Fragile X • Turner Syndrome X • XXYY Syndrome

• You will find a collection of websites on each syndrome at the end of this assignment • IF you are interested in more articles please feel free to contact me.

19 Klinefelter Syndrome

• Figure 2: Picture (karyotype) of chromosomes from a male with Klinefelter syndrome (source: Greenwood Genetic Centre (1995): • Counselling Aids for geneticists. Greenwood Genetic Center, USA).

20 Klinefelter Syndrome or XXY Syndrome

¾ Klinefelter syndrome is one that affects the male sexual development. ¾ The characteristics of this disorder include: ¾ Small testicles. ¾ Infertility. ¾ Lower testosterone level, ¾ sparse facial and body hair, ¾ taller than average height ¾ may develop a feminine body shape which is caused by the lower level of testosterone. ¾ The boys may be shy and quiet when they are young. ¾ As they mature they may be prone to emotional outbursts ¾ They may develop weight issues ¾ They are at risk for developing Autoimmune Disorders such as Lupus ,Rheumatoid Arthritis and Sjogren's Syndrome. ¾ They also may have teeth abnormalities. ¾ They can be at risk for breast cancer due to excess breast tissue. ¾ It is uncertain whether or not the XXY is random or has a genetic component. Maternal age may play a role in this disorder. It could also be that the fathers X chromosome is passes on as well. ¾ There can be chromosomal variations like 46xy/47xxy, 47XYY, 47XXX, 48,XXXY, 48,XXYY, 49,XXXXY . There can be mosiac chromosome lines as well. ¾ Is not always diagnosed prenatal, Some men are not diagnosed till puberty , or because of infertility issues. There are others who go thru their whole lives not knowing or being affected by this diagnosis.

¾ It happens 1 in every 500 births to 1 in every 1000 births.

21 Educational issues in xxy boys

¾ Developmental Delays which include: ¾ Difficulty with Motor Skills ¾ Impaired Language / Speech Skills ¾ They may not speak until age 5 ¾ have problems with expressive language) ¾ Receptive language is at near normal levels ¾ Learning Disabilities -academic difficulties, diminished short-term memory, decreased data-retrieval skills, reading difficulties, dyslexia, ¾ Normal or High IQ ¾ Problems with Social Interaction ¾ ADHD (Attention Deficient Hyperactivity Disorder) ¾ Impulse Control Disorder ¾ Depression ¾ Low Self Esteem ¾ Low energy levels ¾ Emotionally sensitive ¾ Anxiety disorders and unable to handle stress. ¾ May have Central Auditory processing Disorder (CAPD ¾ May have Executive Functioning Disorder

22 Teaching tips: ways to help. ¾ XXY males often have decreased immediate auditory recall they have trouble remembering what they have just heard. Parents and teachers can help them remember by approaching memory through visual channels. Illustrating words with pictures may help. Gesturing is another useful technique. ¾ XXY males frequently have trouble finding the right word to describe an object or a situation. Parents and teachers can help them build vocabulary through a variety of techniques. One way is to provide them with synonyms, such as pointing out that a car is also called an automobile. Another important teaching tool is categorizing-showing the child that an item belongs to a larger class of items. With this technique, a child could be told that cars, buses, trucks, and bicycles are all vehicles, machines that carry people and things from place to place. ¾ Because XXY boys have difficulty expressing themselves, they may do poorly on essay- style test questions. Multiple choice questions will give teachers a better idea of what an XXY child has learned-and prove less stressful for him as well. Similarly, rather than asking an open- ended question, parents and teachers may wish to present alternatives. Instead of asking "What would you 'like to do now?" they may wish to offer a choice: "Would you rather work on your spelling or work on your math?“ ¾ Parents and teachers can help XXY boys develop the ability to express themselves through solicited dialogue engaging them in conversation through a series of questions. The same technique can be used to get the child to develop his narrative (storytelling) abilities. For example, a parent might begin by asking a child what he did at recess that day, and by following up with questions that get the child to talk about his activities: "Did you go down the slide? Were you afraid when you climbed all the way to the top of the ladder? And then what? Did you go on the seesaw? Who sat on the other end?"

23 More tips.

¾ Parents can also help XXY boys develop their expressive language abilities simply by providing good examples. Through a technique known as modeling, they can help organize their children's thoughts and provide them with examples of how to express oneself. For instance, if a younger child indicated that he wanted a toy fire engine by pointing at it and grunting, the parent could hand it to him while saying "Here you are. This is a fire engine." Similarly, if an older child asked "Are we going to put the stuff in the thing?", the parent might reply "Yes, we're going to put the oranges in the shopping cart.“ ¾ Research indicates that XXY boys may do poorly in an open classroom situation and seem to prefer a structured, tightly organized environment centered around familiar routines. First, teachers can reduce distraction by placing them in front row seats. Teachers also should present information slowly and repeat key points several times, if necessary. XXY boys should not be given tasks that have many small steps. Rather, each step should be presented individually. On completion, the child may then be asked to work on the next item in the series ¾ As mentioned above, XXY boys may withdraw from material they find difficult and retreat into day dreaming. A teacher or parent should gently regain the child's attention and help him to focus again on the task at hand. Similarly, XXY boys may have difficulty putting one task aside and beginning another one. Again, the parent or teacher should gently shift the child's attention, by saying something like "Drawing time is over. Let's put away the crayons and take out the math book.".

adapted from John Graham et al., "Oral and Written Language Abilities of XXY Boys: Implications for Anticipatory Guidance," Pediatrics, Vol. 81 (6), June 1988.

For the full article go to www. http://xxy.50megs.com/klinefel.htm#xch_kl

24 Triple xxx Syndrome

¾ Is also known at 47xxx. ¾ they can be a mosaic which is 46xx/47xxx. ¾ Being an x chromosome ,it affects only girls. ¾ It is often diagnosed during prenatal testing. OR it may be found when looking into developmental delays. Some women go their whole lives with out being aware of the diagnosis. ¾ There is little difference to their appearance other than a possible flattening of the bridge of the nose and a slightly wider space between the eyes ( which is a sign of a chromosomal anomaly) In these girls it is not usually that noticeable ¾ They are tall or above average height and considered to be beautiful. ¾ They can be thin, or have weight issues. ¾ They are considered to be fertile, may develop early menstration or have it delayed (there is no particular school of thought on that matter) ¾ There may be a problem with weak muscle tone. ¾ Can have sensory integration issues ¾ These girls are usually shy. ¾ They often suffer from anxiety issues and may exhibit emotional outbursts which may get worse with puberty and the onset of hormones kicking in. ¾ May have Executive Functioning disorder ¾ Have problems with social skills ¾ Making friends and keeping friends may be difficult. ¾ They are emotionally immature for their age ¾ Have problems with anxiety. ¾ May have bouts of depression. ¾ It should be noted that not all xxx girls have all these issues , some have relatively few. These are all possibilities not probabilities.

25 Educational Issues for xxx girls

¾ They may have normal or slightly below normal IQ’s. ¾ Have problems with both receptive and expressive language. ¾ May have problems with phonetics. They are unable to discern various sounds. They have trouble with blending. ¾ Some girls struggle with understanding abstract thoughts ¾ Some struggle with math concepts. ¾ There may be issues with reading . ¾ self esteem ¾ They can problems with anxiety ¾ They lack social skills (similar to those with Asperger Syndrome) ¾ They may have problems dealing with groups ¾ Spelling maybe a problem because of phonetics. ¾ May have memory problems ¾ Have problems with sequential ordering. ¾ May have symptoms of ADHD. ¾ Can be overly sensory to sound and touch (like the feel of wet sand or papermache) ¾ They are emotionally immature and that may have trouble moving from concrete to abstract learning due to that immaturity.

26 How to help.

¾ These girls benefit greatly from early intervention strategies like physiotherapy for poor muscle tone and speech and language pathologist to help with speech. ¾ Intensive phonic programs have been very beneficial in helping these girls distinguish sounds and to help with speech and reading delays. ¾ Math strategies include use of more concrete materials to help them visualize adding and subtracting. ¾ Money and the concept of time may be problematic for a life time. Some strategies may be to use real coin, real bills so that they can easily recognize them and they have a real meaning. It is something that may take along time for them to grasp. Playing store or restaurant or any real life situation can be helpful and it should be done often . ¾ Time is another difficult area . Concrete manipulatives such as clocks with different colored hands and ones that are divided into quarter can be helpful. They should practice telling time both in school and home starting with hours , then minutes.. Putting time into perspective , like one “Arthur “ to complete a task. Use of digital time may be useful as well. ¾ It is helpful to break things into chunks so that they don’t feel overwhelmed. ¾ Learning center support is an essential part of their programming. ¾ Joining groups or taking social skills classes can help them with learning how to socialize. Sometimes they may need to have adults around to help facilitate proper playing and explanation of rules. ¾ It is important that to note that some of these girls take things literally so it is imperative that you are aware of this when you are talking to them and giving instructions. They having problems with perception . For example. Telling a grade 5 student that they may have to try Grade 3 or 4 math may be taken as “ I have to go into a grade 3 math Class” It can create a lot of misunderstandings and anxiety. It can also be a problems socially . If a child doesn’t want to play with her right now , she takes it as they wont play with her “ever” and that she has “no friends” ¾ Helping them to discern what is sickness and what is anxiety is also helpful. They need to adopt coping skills and really get to know the signs of anxiety. ¾ What is most helpful is to have a supportive and loving family and a supportive educational system with understanding and patient teachers and Educational Assistants. Knowing that they have someone to turn to can make all the difference for these girls ¾ Having peer helpers in class can make learning difficulties less obvious and they are more willing to ask for assistance.

27 Turner Syndrome

28 Characteristics of Turner

¾ Turner Syndrome seems to have more physical characteristics, than other SCA’s ¾ They are short in stature. ¾ They have webbed necks, low ears , lower hairline , are secondary sex characteristics underdeveloped. ¾ Are often treated with hormone replacement therapy to counteract the lost hormones and simulate puberty. ¾ Turner syndrome is the absence of an X chromosome or by damaged X chromosome. ¾ Self esteem can be a real issue for these girls due to statue and lack of puberty so it is important to look into hormones early as to protect their self esteem, ¾ They are considered infertile but can carry a donor egg thru artificial insemination. ¾ They may have problems with diabetes, osteoporosis, ear/hearing problems, obesity, kidney and coronary issues.

29 Educations issues for Turner girls.

¾ Some girls with the condition may experience learning difficulties, particularly in math. Many have a difficult time with tasks that require skills such as map reading or visual organization ¾ They have no problems with reading , writing , expressive and receptive language . All are considered to be with in normal ranges, ¾ It is unknown if there are any other learning issues . It depend on what genes are affected. ¾ Their biggest issue is lack of self esteem and feeling self conscious. It is imperative for these girls to have a strong support system . It is helpful for them to have contact with other Turner girls and women for guidance.

30 Fragile X ¾ Is a genetically inherited syndrome. It is a single gene that can be carried by either the mother or father.. It is carried in the(FMR1) gene on the X chromosome. The(FMR1) gene affects brain, testes, ovaries, esophageal epithelium, thymus, eye, and spleen. ¾ Affects boys more than girls because girls have the extra X chromosome which can counteract the effects of the damaged gene. ¾ Is considered one of the most common inherited form of Mental retardation. ¾ Symptoms and behaviours range from mild to severe. ¾ It is not an obvious chromosomal anomaly. It often is not discovered until there is some kind of motor or speech delays. It is then that testing will give a definitive diagnosis. ¾ The X chromosome carries the gene for fragile X syndrome. Genes are the instructions that tell our bodies how to function. They are made from DNA. The fragile X syndrome gene has a "fragile" site.2 A fragile site on the chromosome can only be seen in the laboratory after special chemical treatment. This was how the syndrome got its name. The length or amount of DNA at the fragile site can vary.1 The length of this site is measured by special laboratory DNA testing techniques2 and is reported as "repeats."1 http://www.labcorp.com/genetics/genetic_disorders/fragile_x.html

¾ Fragile X syndrome can cause a child to have autism or an Autism Spectrum Disorder (ASD) though not all children with fragile X syndrome have autism or an ASD. ¾ FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation. ¾ FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have autism. ¾ FACT: Fragile X syndrome is the most common known single gene cause of autism • http://www.fragilex.org/html/autism_and_fragile_x_syndrome.htm • Fragile X occurs 1 in 1,250 males and 1 in /2,000 females •

31 Characteristics of Fragile X

¾ Delayed speech ¾ Delayed motor skills ¾ Behaviours can be mild to severe ¾ Can be hyperactive ¾ Can have issues with anxiety. ¾ Vocal ¾ Shy ¾ Wont make eye contact with strangers ¾ Has sensory issues ¾ Can be fairly social / friendly / approachable ¾ Some have no problems with motor skills ¾ May show signs of aggression ¾ May have some autistic mannerism like hand flapping ¾ Stress affects language skills ¾ Get tired easily and it affects motor control and language ¾ Tantrums • the physical characteristic • are a long face ,ears which stick out from the head • connective tissue weakness, leading to floppy muscle tone and flat feet • extremely flexible joints • many ear infections in children • a squint as well as long or short sightedness • larger testicles ¾ http://www.fragilex.org.au/

32 Educational tips for Fragile X

• Academically, many children with fragile X syndrome learn better when material is presented in a holistic (or simultaneous) manner, rather a sequential one. For example, they learn to read better with a whole word approach than with a phonics method. Logos and pictures are also helpful visual cues for word identification. • Children with fragile X may learn spelling words better as entire units, then perhaps in syllables, rather than sound by sound. Math goals should also be presented in very visual and tactile manner, with real object counters, size and shape manipulatives, touch math, and concrete examples. The IEP goals must also address the social-emotional needs of the child with fragile X syndrome. Speech-language therapists can work on pragmatic (conversational) skills in social groups, and the social worker can help other children with strategies to be friends with the child having fragile X syndrome. Social-emotional development may be enhanced by careful consideration of the learning environment. • Occupational therapists can be sure there are appropriate settings and equipment for a calm, structured learning environment. Behavioral plans can include goals, rewards, and consequences for appropriate behavior. Visual cues (e.g. hand over the mouth for "Quiet mouth") and calming activities can lessen the inappropriate behaviors of children with fragile X syndrome. • Communication and sensory motor goals may be addressed together at times. Speech-language pathologists and occupational therapists have ideas for oral-motor stimulation and may work together, helping the child to chew on gum, fruit snacks, and hard, crunchy foods, rather than his hands, clothes, or backpack straps. Social-motor groups can be designed to incorporate movement into role-playing activities. Board games and computers might be used for turn taking, communication, and fine motor skills. • For girls with fragile X syndrome, both social-pragmatic and math goals may need to be addressed. Speech-language pathologists and learning disabilities teachers may be part of the team to work in these areas.

33 More tips

• What are Some Important Teaching Strategies? • Teaching strategies, which should be built into the IEP for school-age children, include: • 1. Awareness of learning style: Use of simultaneous processing activities; • 2. Whole word methods for reading and spelling; • 3. Visual cues, including pictures, sign language, logos, and words; • 4. Concrete, high interest examples and materials; • 5. Modeling and imitation, for both behavioral and communication goals; • 6. Integration of self-help goals with language and motor goals (eating, dressing, toileting); • 7. Inclusion of functional skills, along with academic; • 8. Highly structured, predictable routines, with visual cues for changes in expected events; • 9. Opportunities for calming.

http://www.fragilex.org/html/textelementary.htm

34 XXYY • XXYY is often mistaken for other syndromes. The most common symptoms and characteristics that would be noticeable by parents, teachers, medical professionals and other treatment providers are: • Developmental delays • Speech impairment • Tall, considering family history • Behavior outbursts & mood swings • Learning disabilities • Intellectual impairment • ADD symptoms • Autism, autism spectrum, PDD-NOS •Scoleosis • Clinodactyly (Curved-in pinky fingers) • Low muscle tone • Flat feet • Sterility • Delayed sexual development • Undescended testes • Low or no testosterone • Dental problems • Leg ulcers • (Not all boys with xxyy experience all of these symptoms) • Cause and Rate of OccuranceThe cause of XXYY syndrome is still not completely understood. Since extensive studies have not been conducted on the cause of XXYY, there is currently very little information about whether or not there are environmental or other factors. However, there is no evidence that parents of one XXYY child are more likely to have other children with sex chromosomal variations. Sex chromosomal variations in general are actually quite common. The occurance of XXYY is 1 in 17,000 live male births. Klinefelter Syndrome, XXY, is 1 in 500. • DiagnosisDiagnosing xxyy requires a genetic test called a karyotype. The test is done by drawing blood and an analysis is done on the cells of the blood to determine the boy's chromosomal make-up. In some instances, a boy can have some normal xy cells and some xxyy cells. This test is the only way to know for certain that a boy has xxyy. • •//www.xxyysyndrome.org/whatisxxyysyndrome.html •

35 XXYY –”something just isn't right”

• Developmental delay, issues or signs: • Late to walk or difficulty just putting one foot in front of the other when walking • May have crawled late or perhaps never crawled on his or her hands and knees – scooted instead • Problems sitting up without support or “floppiness” • Baby felt heavier or harder to hold in your arms than other babies • May have had trouble learning to climb stairs or playground equipment • Loosing balance • Runs or walks in an unusual way • Slow or unusual sexual development • Trouble picking things up with fingers or hands • High or low on growth charts, especially considering your family history • Has difficulty in gym class, can’t keep up with peers • Has had physical or occupational therapy • Speech delay or issues related to facial/throat muscles • Late to talk or doesn’t talk at all • Speech that is unrecognizable to pretty much anyone but you • Child uses sign language of some type but you can’t find hearing problems • Older children, adolescents and adults may have problems with word retrieval and may talk more slowly as a result (people often interrupt them when they are trying to say something, too) • Often drooling • Trouble sucking • Social issues • Too shy, prefers to be alone or is left out • Can’t make or keep friends • Fights with other children often

36 • Behavioral problems or unique “behaviors” • Outbursts that seem different than other children, happen at unusual times, are more frequent than they should be, are difficult to stop, or are not age-appropriate. Such as: cries easily, angers easily, lashes out at people, kicks things, throws things, cusses, mutters under breath, doesn’t “filter” his or her thoughts before saying what he or she thinks, emotional outbursts. • Arm flapping • Hiding in small places (under bed, under desk at school, in closets – any small space). While this is actually NOT a behavioral problem but instead a sensory problem which is common in kids with these conditions, many people view it as behavioral (as if the child is anti-social, extremely shy or uncooperative). • Repetitive, unusual behaviors (having to do things in a certain order, turning switches on and off constantly, gets upset if his or her day is not going in the order they thought it would). • Unusual eating problems such as eating too much sugar or salt, hording food, eating any food too much or not enough food of any kind. • Stealing • Lying or telling “tall tales” • Gags easily or some trouble swallowing • Doesn’t seem to respond correctly/appropriately when interacting (seems like he or she doesn’t hear you, doesn’t understand the question or what to do, low or no response or over reactive.) • Jumpy • Gets upset in crowds or when there is a lot of noise • Impulsivity • Seems to over-exaggerate aches and pains • Cognitive, learning and attention problems • Mental retardation • Learning disabilities or slow to learn in school • Difficulty following directions • Difficulty staying on-task (or tasks take much longer than they should)

37 •Is victimized by other children/people • Too trusting, easily duped or persuaded • Unusual interactions with others • Doesn’t interact well with people his or her own age • Other physical issues •Someof these may include: • Joint problems, unusual elbows, feet, knees, hands, hips, arms, mouth • Unusual facial features (such as eyes set far apart) • Unusual body shape/type • Unusual breast development (boys and girls) • Other medical issues • Again, many syndromes have related medical issues. Write down as many medical issues your child has had as possible. Some of these may include: • Allergies, asthma, constant coughs • Ear infections • Heart issues • Digestive problems of any type • Seizures, staring spells or just seems to blank out sometimes • Sleep disturbances of any type, night terrors

• http://www.xxyysyndrome.org/images/Something_is_Just.doc

• This was except from this article. It is way of identifying the XXYY symdrome and making its presence known. It is an educational piece designed to enlighten parents, family members ,doctorsand educators where to turn when they feel “that something just not right!”

38 These are just some of the similarities between SCA’s Sensory Integration Integration Sensory Low muscle tone muscle Low Receptive Receptive Language Disorder

G skills lobal ocial d S elays Dyslexia Emotional

Sex Self esteem memory Chromosome Anomolies Weight issues Tall/ short Stature (SCA) Simularities ADHD

Executive Anxiety Functioning ilites Delay b motor sk p oor

Disa Expressive e language d impulse control ing i n lls ar Le Math concepts Speech Delayed

39 Research

• We are very fortunate to be living in a time of medical advancement. With the Human Genome Project Identifying Genes we have made a big step forward in understanding a person genetic makeup. • There are a lot of studies going on right now. • Here is just a list of what is going on around the world.

¾ To Identify and Describe Medical Issues in Children with Autism, Fragile X Syndrome, Developmental Delay and Typical Development

¾ Math Skills Development Project - Girls with Fragile X ¾ Study Seeking Mothers of Children with Fragile X Syndrome

¾ Request for Participants in Cognition and Literacy Research Ages 10-35. ¾ FXTAS (Fragile X-associated Tremor Ataxia Syndrome) Treatment Study ¾ The UCLA Behavioral-Genetics Clinic along with the UCLA Lili Claire Family Resource Center is conducting a needs assessment of teachers and parents of children with specific genetic disorders Click on here to get more info on these studies, http://www.fragilex.org/html/current_research_studies.htm#researchstudy

40 More Research

• Study of all sex chromosome variations • Thanks to a grant from the Bonfils-Stanton Foundation, funding through the UC Davis MIND Institute and the efforts of Dr. Randi Hagerman, a study of all sex chromosome anomalies is under way. Dr. Nicole Tartaglia is conducting the study. • Included in the study: XXY, XXXY, XXXXY, XXYY, XYY, XXX (and all variants thereof), and XO (Turner Syndrome). • News Flash! A new study is underway at the UC Davis MIND Institute on Social Development in Males with Sex Chromosome Variations.

41 Footnote

• For anyone who has a SCA, there is no reason they should not all live a normal and productive lives • They should be seen by a doctor on a regular basis. • When reading over the symptoms of each “disorder” it is hard not to feel over whelmed and scared for these individuals But it is important to realize the not every person suffers from these symptoms , some are asymptomatic. The severity of symptoms ranges from very mild to severe for a select few. • From an Educational standpoint , you may not see Turner Syndrome or Triple X syndrome written on an IEP. For parent of all children with a SCA it is a hard decision to disclose their child genetic makeup for fear of labeling , confidentiality . Most approach it on a need to know basis. But by identifying they open their child to a whole different level of support. • IF you are fortunate to have that identification, talk to the parents, more often than not they are the experts on their child . • If you have a child that is" lazy, unmotivated, unfocused , hyper,” Try and look beyond the labels and see the child who may be struggling with his/her world. They may have an undiagnosed genetic makeup. • If you look at the each SCA and look at the educational issue, you will see that they have a lot in common. It is like looking at one disorder with many mutations. The things that I have listed as tips can be used by all! • These children may present a challenge both at school and at home but they give so much back and we have a lot to learn about and from each other. They can be a real joy to work with. Celebrate their milestone and successes. • Of all the gifts you can give a child, it is to be someone that they can trust and supportive. These children thrive under such conditions, protect their self esteem and teach them how to cope in their world.

• There was a very astute woman on the Triple X site who described her granddaughter as having an extra kiss and it is so true. Those with the extra x have more to love!

• CherylAnn Caspersen

42 Websites

• http://www.fragilex.org/html/characteristics.htm

• http://learn.genetics.utah.edu/

• http://www.turner-syndrome.com/

• http://www.ygyh.org/

• http://www.genome.gov/11508982

• http://klinefeltersyndrome.org/

• http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html

• http://www.genetics.com.au/factsheet/01.htm

• http://www.fragilex.org.au/ has a wonderful booklet on fragile x to be down loaded.

• http://www.medgen.ubc.ca/wrobinson/mosaic/specific.htm

• http://www.genetic.org/ for information on Klinefelter syndrome , Turner and Triple X • http://www.trisomyonline.org/chromlinks.htm • http://history.nih.gov/exhibits/genetics/kidsf.htm has a great animated narrative on genetics for kids(and adults too!)