Fragile X Syndrome

1. Fragile X Syndrome Presented by Christie Carels Heather Montgomery

2. Fragile X Introduction

3. Cause • A change or mutation in a gene on the X chromosome causes the fragile X syndrome. Chromosomes are packages of genes that are passed from generation to generation. Most individuals have 46 chromosomes, two of which are sex chromosomes. In females, these are two X's; in males they are and X and Y. Genes are given names to identify them and the gene responsible for fragile X syndrome is called the FMR1 gene. The mutation is in the DNA (the chemical that makes up genes), of the X chromosome. The gene appears in three forms that are defined by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than 55 CGG repeats have a normal gene. Individuals with 55-200 CGG repeats have a premutation which means they carry an unstable mutation which can expand in future generations. Individuals with over 200 repeats have a full mutation which causes fragile X syndrome. The full mutation causes the gene to shut down or methylate a region of the FMR1 gene. Normally, the FMR1 gene produces an important protein called FMRP. When the gene is turned off, the individual does not make the protein. The lack of this specific protein causes fragile X syndrome.

4. Common Symptoms of Fragile X Syndrome • Intellectual disabilities, ranging from mild learning disabilities to mental retardation • Attention deficit and hyperactivity, particularly in young children. • Anxiety and unstable mood • Autistic behaviors • Sensory integration problems, such as hypersensitivity to loud noises or bright lights • Speech delay, with expressive language more severely affected than receptive language. • Seizures (epilepsy) affects about 25% of people with Fragile X

5. Prevalence of Fragile X Syndrome According to the National Fragile X Foundation: • Approximately one-million Americans carry the Fragile X mutation, including approximately 100,000 with Fragile X syndrome • Approximately 1 in 3600 to 4000 males in the world are born with the full mutation for Fragile X • Approximately 1 in 800 men in the world are carriers of the Fragile X premutation • Approximately 1 in 260 women in the world are carriers of the Fragile X premutation

6. Testing There is a genetic blood test that can accurately detect both carriers and fully-affected individuals. The test can be ordered by any physician and usually takes several weeks to get the results. The test costs several hundred dollars but is usually covered by health insurance.

7. Diagnosis The Centers for Disease Control and Prevention Report; • The average age of Fragile X Syndrome diagnosis of boys is 35 to 37 months. Girls are diagnosed at an average age of 42 months. • Parents are usually the first to notice symptoms of Fragile X Syndrome at about 12 months of age for boys and 16 months of age for girls. • Parents reported having to visit a physician repeatedly before the physician confirmed a developmental delay. • More than one third of families reported that more than 10 visits were required before the diagnosis of Fragile X Syndrome.

8. Treatments There is no specific treatment available for Fragile X Syndrome. Supportive therapy for children who have Fragile X Syndrome includes; • Special Education and anticipatory management including avoidance of excessive stimulation to decrease behavioral problems. • Medication to manage behavioral issues, although no specific medication has been shown to be beneficial. • Early intervention, special education, speech therapy, occupational therapy and vocational training. • Vision, hearing, connective tissue problems, and heart problems when present are treated in the usual manner.

9. Instructional Suggestions • Use visual coding • Provide step-by-step instructions • Encourage students to ask for assistance • Use “fill in” or “closure” question technique • Work from the whole then backwards • Take an interest inventory • Build in a calming activity into their schedule

10. Instructional Suggestions cont’d • Seat as close to the front or side of class as possible • Provide one on one and/or small group instruction • Provide picture schedules and timers for transitions • Avoid timed tests when possible • Provide concrete alternatives when teaching abstract concepts • Use manipulatives and visuals

11. Instructional Suggestions cont’d • Reinforce student attempts • Use technological adaptations • Provide social skills lessons • Work in collaboration with special education teacher and speech and occupational therapists as needed

12. Case Study: Susan “Susan, a student with fragile X syndrome, had a difficult ninth grade year. She was at a critical point in both her skill acquisition and emotional maturity. Her academic challenges and emotional status were clearly correlated. It was vital to address her school failures while carefully considering the appropriateness of her current school placement. Simply repeating her ninth grade experience would not remediate her learning deficits. Additionally, she was not learning compensatory strategies to improve her performance. She was in need of alternative teaching methods to help her succeed. The following accommodations and curricular adaptations were suggested.”

13. Case Study: Susan • “Because Susan could be easily distracted, she required a low-distraction environment. This entailed preferential seating away from distraction with access to a private study area (study carrel) and a place to work independently or in a small group. Seating near the teacher allowed the teacher to summon Susan’s attention without obviously singling her out.”

14. Case Study: Susan • “Susan’s poor impulse control suggested various behavioral strategies for her teachers. Expectations were established, with consequences she understood. Consequences were role-played. Frequent breaks were scheduled to include physical activity. Systematic procedures were established to help her better control her immediate emotional reaction to stimuli, e.g., stop, count back from 10 to 0, count by 2s to 50, recite months of the year, etc.”

15. Case Study: Susan • “Because Susan could easily slip into off-task behavior, her adaptive plan included redirection by her teachers; regular breaks during which she enjoyed a choice of activities; the use of a timer to remind her of time constraints; a choice of tasks for which she could arrange the sequence of attack within an established schedule; and suggestions to pursue an alternate task when she was having difficulty with a primary task. The instructor would then loop back to the original task offering a higher strength reinforcer.” (2004, National Fragile X Foundation).

16. Case Study: Lucas Let’s look at a short case study of Lucas, a young child with Fragile X Syndrome. http://www.youtube.com/watch?v=wGdH1M5lCVY

17. Organizations • The National Fragile X Foundation www.nfxf.org • FRAXA Research Foundation www.fraxa.org • Conquer Fragile X www.conquerfragilex.org

18. Works Cited • Foundation, F. R. (2011, August 2). FRAXA Research Foundation. Retrieved September 5, 2011, from http://fraxa.org/Default.aspx • Foundation, T. N. (2011, April 8). The National Fragile X Foundation. Retrieved September 5, 2011, from http://www.fragilex.org/html/home.shtml • Fragile X Syndrome. [Video File]. Retrieved from http://www.youtube.com/watch?v=wGdH1M5lCVY. • Health, N. I. (2010, June 24). National Human Genome Research Institute. Retrieved September 5, 2011, from http://www.genome.gov/19518828 • Prevention, C. f. (2011, July 20). Centers for Disease Control and Prevention. Retrieved September 5, 2011, from http://www.cdc.gov/ncbddd/fxs/data.html • The National Fragile X Foundation Education Project. (2004). Lesson Planning Guide for Students with Fragile X Syndrome. Retrieved September 3, 2011, from http://fragilex.org/pdf/FXSBinderReprint0804.pdf