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Fragile X Syndrome:

The Leading Genetic Cause of Autism and Intellectual Disability

What is Fragile X Syndrome?
Fragile X is a genetic syndrome effecting the X chromosome. It is the most widespread cause of Autism and intellectual disability, especially among boys. The syndrome develops when a genetic trinucelotide repeat in the X chromosome results in a failure to produce the Fragile X Mental Retardation Protein (FMRP), a protein needed for normal neural development. Only 1 in 5,000 males are born with Fragile X Syndrome; yet, 1 in 151 women and 1 in 468 men have genetic premutations for the syndrome. Those with premutations may not exhibit noticeable symptoms, but are at a greater risk of developing conditions related to the disorder or passing the syndrome onto their children. 23% of people with a premutation had a child with the disability. 26 months for girls. In fact, more than one third of families had to visit their physician 10 times before FXS was diagnosed. Fragile X Symptoms include: Developmental Delay and Intellectual Disability Attention Problems Generalized Anxiety Hyperactivity Autism Seizures Sleep Disorders Social Anxiety Obsessive Compulsive and Repetitive Behavior

Special education services are available to children whose development has been hindered by Fragile X Syndrome. Under the Individuals with Disabilities Education Act (IDEA), children are provided with services from birth to 3 years of age, and then are granted free public education from 3 to 21. IDEA requires a multifaceted evaluation of children with developmental disorders. Parents and professionals then agree on a plan which best suits the childs needs. As previously stated, early detection is key in providing the best care and opportunities for children with Fragile X Syndrome.

While there is no ofcial cure for Fragile X Syndrome, early detection, quality education and appropriate medication can all help to maximize the potential of a child with FXS. There are no explicit FXS medicines, but other medications may be used to target specic symptoms, such as ADHD, seizures, anxiety etc. Clinical trials are currently being executed for Fragile X specic medication. 1

Symptoms and Diagnosis

Fragile X Syndrome can be difcult to detect and subsequently diagnose. Parents generally are the rst to detect symptoms of the syndrome; symptoms become evident at about 12 months for boys and 16 months for girls. After initial detection, parents have reported difculties in actual diagnosis of the disorder. According to the CDC, Fragile X Syndrome is usually not ofcially diagnosed until 20 months for boys and

Because the symptoms and conditions associated with Fragile X are so varied, strategies specic to the syndrome have not yet been formalized. Below are teaching strategies for students with Autism, one of the most prevalent side effects of Fragile X: Avoidance of excessive auditory or visual stimulation In a 2010 study by Swiss Presentation of a clear and predictable schedule pharmaceutical company Novartis, positive results were found in patients Use of the Picture Exchange after being treated with an Communication System, in place of experimental drug; a reduction in verbal communication hyperactivity, repetitive motions, social Direct instruction in social skills anxiety and inappropriate speech were Clearly dened work stations observed. While the study was small and relatively short term, the director of the Stanley Center for Psychiatric Students with Fragile X related Research at Harvard University told developmental disabilities would the NY Times it was perhaps the also benet from the use of special most promising therapeutic discovery teaching strategies, such as: ever for gene-based behavioral The use of strong visual cues in the disease (New York Times). classroom (i.e. boundaries for specic areas) Clear and direct instruction Structured opportunities for social interaction Positive reinforcement and direction in place of criticism or excessive discipline Additional support (i.e. small group instruction, extra time on activities, visual and auditory aids)

Teaching Strategies

Maryland Dept. of Disability Administration: 201 W. Preston Street 4th Floor, Baltimore, MD 21201 410-767-5600

Data & Statistics. (2013, August 27).Centers for Disease Control and Prevention. Retrieved February 3, 2014, from http:// Global Developmental Delay - Medical/ Disability Information for Classroom Teachers. (n.d.). Retrieved from inmdict/html global_developmental_delay.html Sertraline may improve language developmental trajectory in young children with fragile X syndrome: A retrospective chart review. Center for Mind and Brain. (n.d.). Retrieved from http:// publications/articlereference. 2012-04-09.7640531512 Fragile X Resource Center. (n.d.). Retrieved from http:// Teaching Children With Developmental Disabilities: Classroom Ideas | Intervention Central. (n.d.). Retrieved from http:// CDC - Fragile X Syndrome (FXS), Data and Statistics - NCBDDD. (n.d.). Retrieved from ncbddd/fxs/data.html Gardiner,!H. (2010, April 29). Promise Seen in Drug for Retardation Syndrome. New York Times [New York]. Retrieved from http:// research/30fragile.html? pagewanted=all&_r=0


Family Resources

Fraxa Research Foundation: 10 Prince Place, Suite 203 New UC Davis recently conducted a chart Buryport, MA 01950 review study on the use of setraline 978-462-1866 (Zoloft) to alleviate anxiety in children under 5 with Fragile X Syndrome. This preliminary study found positive results National Fragile X Foundation: and the data supports the need for a 1615 Bonanza St. Suite 202 controlled trial of setraline treatment in Walnut Creek, CA 94596 young children with FXS (UC Davis). 800-688-8765 Stanford School of Medicine is advertising a variety of clinical studies, for ages 18 months to 30 years old. These tests include pharmacological treatment (testing drugs like donepexil and oxytocin) behavioral therapy and developmental evaluation. Fragile X Clinic at Kennedy Krieger Institute: 716 North Broadway Baltimore, MD 21205 443-923-7619 2

Current Research

By: Charlotte Andreasen Intro To Special Education 2/6/2014