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The Leading Cause of Autism and Intellectual Disability

By Charlotte Andreasen


Weve all heard of Autism, intellectual disabilities, hyperactivity, social anxiety and obsessive compulsive disorder. But had you heard of Fragile X? Fragile X is in fact the leading genetic cause of these aforementioned syndromes and af flictions. Even though you may not have heard of Fragile X (like myself), you may have a genetic premutation for the syndrome! 1 in 151 women and 1 in 468 men have a genetic premutation for Fragile X. Those with premutations do not have the syndrome, per say, but rather they are at risk of developing symptoms related to Fragile X, or passing it onto their children. Therefore, while Fragile X isnt often talked about, its playing a large role in our society!

Fragile X Syndrome is a genetic syndrome ef fecting the X chromosome. It is the most widespread cause of Autism and intellectual disability, especially among boys. Fragile X develops when a genetic trinucleotide repeats in the X chromosome. This repeat results in a failure to produce the Fragile X Mental Retardation Protein (FMRP); FMRP is a protein needed for normal neural development.

Developmental Delay and Intellectual Disability Attention Problems Autism Generalized Anxiety Hyperactivity Seizures Sleep Disorders Social Anxiety Obsessive Compulsive and Repetitive Behavior

Physical Characteristics: Elongated Head Shape and Protruding Ears (especially in boys)


Diagnosing Fragile X has proven dif ficult for many families and medical professionals. Symptoms generally become evident in children at about 12 months for boys and 16 months for girls. After this initial detection (usually made by parents), Fragile X can take a while to of ficially diagnose. The CDC states Fragile X Syndrome is not usually of ficially diagnosed until 20 months for boys and 26 months for girls. In fact, more than one third of families had to consult with their physician 10 times before FXS was diagnosed!

THOUGHTS Why do you think Fragile X takes so long to diagnose? Given what we know about early intervention in developmental disabilities, what effect might this delayed diagnosis have on treatment for the child? How could we speed up the process?

There is no of ficial cure for Fragile X syndrome. That being said, early detection, quality education and appropriate medication can all help to maximize the potential of a child with Fragile X. Medication is often used to treat specific symptoms (i.e. ADHD, seizures, anxiety etc.) Clinical trials are being executed right now for Fragile X specific medication!

Special education services are available to children with Fragile X. Under the Individuals with Disabilities Education Act (IDEA), children are provided with services from birth to age 3. They are then guaranteed free public education until age 21 . IDEA requires a multifaceted evaluation and approach to treatment for children with disabilities, drawing upon consultations between parents, educators, health professionals and others. As previously mentioned, early detection is key in providing the best treatment and education for children with Fragile X!

Because Fragile X Syndromes symptoms and manifestations are so varied, a specific teaching strategy is dif ficult to define. But, specific strategies exist to deal with many facets of the syndrome, like Autism. Teaching Strategies for Students with Autism:
Avoidance of excessive auditory or visual stimulation Presentation of a clear and predictable schedule Use of the Picture Exchange Communication System, in place of verbal communication Direct instruction in social skills Clearly defined work stations

Of course, Autism is only one possible side effect of Fragile X Syndrome. Do you have any ideas for teaching strategies for students exhibiting other symptoms of Fragile X? How about for anxious students? Students with obsessive compulsive disorder? Students with ADHD or hyperactivity?


There is a great deal of exciting and promising research surrounding Fragile X taking place right now! Here are just a few: UC Davis recently conducted a chart review study on the use of setraline (Zoloft) to alleviate anxiety in children under 5 with Fragile X Syndrome. This preliminary study found positive results and the data supports the need for a controlled trial of setraline treatment in young children with FXS (UC Davis) . 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.

Fraxa Research Foundation: 10 Prince Place, Suite 203 New Buryport, MA 01950 (978-4621866) National Fragile X Foundation: 1615 Bonanza St. Suite 202 Walnut Creek, CA 94596 (800688-8765) Fragile X Clinic at Kennedy Krieger Institute: 716 North Broadway Baltimore, MD 21205 (443-923-7619) Mar yland Dept. of Disability Administration: 201 W. Preston Street 4th Floor, Baltimore, MD 21201 (410-7675600)

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