Fragile X Syndrome

Keel CDV 106 Cassandra Johnson December 2, 2013 Script for Fragile X Presentation Slide 1. FRAGILE X SYNDROME Slide 2. Fragile X syndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning, autistic-like behavior, hyperactivity, and a distinctive physical appearance Slide 3. The term "fragile X" comes from the finding that the X chromosomes of affected individuals have a fragile site that causes the chromosome to break under certain test conditions. Slide 4. FMR-I

The gene causing fragile X, FMR-I, is located on the X chromosome at the so-called "fragile" site that gives the syndrome its name. The protein it produces is believed to play a role in brain development. The FMR-I gene was found to contain repeats ofa particular 3-base CGG sequence. When the length of this repeat becomes too long it causes Fragile X syndrome. Slide 5. THERE IS NO CURE FOR FRAGILE X SYNDROME Slide 6. It is more common and severe in boys than girls Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect males more severely.

You can have fragile X syndrome even if your parents do not have it. Slide 7. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears Slide 8. Pictures of two boys with Fragile X characteristics CHARACTERISTICS INCLUDE 1. Large head, long narrow face, prominent forehead , Jaw, and large ears. 2. Low muscle tone. 3. 4. 5. 6. 7. Flexible Joints. Crossed eyes (Strabismus). High arched palate in the mouth. Chest indentation Flat feet Slide 10. FEATURES OF FRAGILE X IN FEMALES .

Same as males but often milder. 2. 1/3 of FXS females have a significant intellectual disabilities. 3. Can have moderate or mild disabilities A small % of females can have the full mutation of the FMRI gene without any signs of FXS. This is often discovered after another family member is diagnosed Slide 11. Pictures of two girls with Fragile X characteristics Slide 12. Chart of male and female with Fragile X characteristics Slide 13. DEVELOPMENTAL CHARACTERISTICS 1. Not noticeable at birth. 2. First signs is all developmental stages are significantly delayed. 3. Sensory ntergration dysfunction is evident 4.

Social, behavioral, and emotional problems are prevalent. 5. Can be shy and anxious with people they don''t know. 6. Avoidance of eye contact and sterotypic body movements are common. 7. May have attention deficits, hyperactivity, and impulse behavior. Slide 14. POSSIBLE MEDICAL PROBLEMS 1. Sucking problems. Digestive disorders (gagging and Vomiting). 2. Vision problems Ear and sinus infections. Curvature ot the spine. 6. Joint dislocation 7. Seizures. 8. Heart Problems Slide 15. FXS and AUTISM FXS is a medical (genetic) diagnosis. Autism is a behavioral diagnosis. -33% of children with FXS have Autism While only 2-6% of children with Autism have FXS Slide 16. FXS by the Numbers • lin 3600-4000 males have FXS 1 in 4000-6000 females have FXS • 1 million in USA carry FX mutation. 100,000 will haveFXS • lin 4000 males are born with a full mutation of FX- most will have FXS • lin 6000 females are born with a full mutation of FX-50% with full mutation will have some features of FXS• 1 in 800 men worldwide are carriers of the FX premutation • 1 in 260 women worldwide are carriers of the FX premutation Slide 17. TREATMENT/CARE/EDUCATION

The earlier a child with FXS is identified, the earlier care goals can be set. • It may be in a child care program that a child''s development delays are first recognized. • It is important to have the parents take the child in for a medical evaluation as soon as any deviations in development or behavior are noticed. Slide 18 & 19 INFORMATION National Fragile X Foundation Bonanza St. suite 202walnut creek, CA 94596 688-8765 Email: natlfx@fragilex. org Website: www. fragilex. org FRAXA Research Foundation Fax: (925) 938-9315 10 prince Place, suite 203Newburyport, MA 01950 615 Phone: (800) Phone: 987 62-1866 Website: www. raxa. org March of Dimes Email: info@fraxa. org Calitornia Chapter Address suite 300, san Francisco, CA, 94104 Phone: (415) 788-2202 : 101 Montgomery Fax: (415) 788-2802 Website: www. marchofdimes. com/baby/fragile-x-syndrome. aspx# PubMed Health Information 8600 Rockville Pike, Bethesda MD, 20894 USA National Center for Biotechnology U. S. National Library of Medicine Website: http:// www. ncbi. nlm. nih. gov/pubmedhealth/PMH0002633/ National Human Genome Research Institute National Institutes of Health Building 31, Room 4809 31 center Drive, MSC 2152 9000 Rockville Pike

Bethesda, MD 20892-2152 Fax: (301) 402-2218 www. genome. gov/19518828 Centers for Disease Control and Prevention Rd. Atlanta, GA 30333, USA TW: (888) 232-6348 www. cdc. gov/ncbddd/fxs/ Slide 20. LOCAL RESOURCES The Arc of California 350 sacramento, CA 95815 Phone: (916) 552-6619 California Chapter Phone: (301) 402-0911 1600 Clifton Phone:800-CDc-lNF0 (800-232-4636) Chapter 23 1225 8th st ste Website: www. thearcca. org Address: 101 Montgomery Street, Redwood Coast Regional Center Lakeport Office Lakeport, CA 95453 Website: www. redwoodcoastrc. org Lake County 180 3rd street, Phone: (707) 262-0470