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When It Comes To Fragile X, Many Experts Don’t Have A Clue

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It’s the leading cause of inherited intellectual disability and often co-occurs with autism, but a new study finds that many educators and therapists know little about fragile X syndrome.

Researchers surveyed 439 behavior therapists, psychologists, special educators and speech therapists working with children who have autism, nearly half of whom had experience with at least one child diagnosed with fragile X. Nonetheless, they found that such professionals are largely in the dark about the genetic disorder.

Less than 30 percent of those surveyed knew that fragile X is found in 1 in 20 kids with autism, according to the study published recently in the journal Intellectual and Developmental Disabilities. What’s more, just a quarter were aware that hand flapping and physical characteristics like prominent ears are common among boys with the condition.

Although the majority of professionals recognized the importance of connecting parents with genetic testing resources, nearly three-quarters said they either rarely or never ask about the cause of a child’s disability when they start working with them. Meanwhile, many of those surveyed were unaware that a simple genetic test could determine whether or not a child has fragile X.

That’s troubling, researchers say, because educators and therapists are uniquely positioned to offer families advice about obtaining genetic testing, something that many children with autism are not undergoing. And, when the cause of a child’s condition is determined, they can receive more appropriate treatment and therapy.

“The survey results underscore the need for training and education so that professionals can become effective partners in diagnostic genetic referral as well as in research and implementation of syndrome-specific interventions,” wrote Brenda Finucane of the Autism and Developmental Medicine Institute at the Geisinger Health System and her colleagues in their findings.

Though the study looked specifically at fragile X, the researchers said that their findings suggest that those in the disability field may know little about other genetic conditions related to autism as well since fragile X is among the most common and well-researched.

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Comments (7 Responses)

  1. FXmom says:

    I am a carrier of Fragile X and a mom to a child affected by it. I also am an RN as well. It is certainly an uphill battle to get the medical community to put Fragile X on their radar. The other really important fact is that the typical genetics “work-up”/blood panel does not include Fragile X testing. It must be selected as an additional test. There were many specialties that you did not survey, including many of the medicine specialties. There are other carrier associated disorders that also should indicate a need for testing. FXPOI affects carrier females and can cause infertility and pre-mature menopause. FXTAS is a neurodegenerative disorder that presents with symptoms that are a mixture of Parkinson’s and dementia. There is a lot of awareness work to be done, but someday when I tell someone I have a child with Fragile X, I will no longer get the question “Fragile What”?

  2. Robertta Thoryk says:

    Not true here. When working with kids we ask in detail and we ask for documentation, specifically so we can then follow up and ask about family involvement with support groups, medical supports, adults with similar experiences etc. Otherwise, how could we help them hook up with others if they are open to this?

  3. Deborah Brown says:

    What are the characteristics of children with FRAGILE X besides prominent ears in boys? I have a 4 year old nephew with autism.

    Thank you.

  4. AnotherFXMOM says:

    Deborah, Not all children with Fragile X have the prominent ears. Often the physical characteristics become more prominent during puberty. Learning disabilities, adhd, anxiety, sensory processing disorder, seizure disorder, fine and gross motor delays, speech delays are some symptoms, BUT not every child has every symptom. Many children with Fragile X are very friendly and great imitators with a wonderful sense of humor. The only way to truly know if your nephew has or does not have Fragile X is to have the correct blood test. All children with an autism diagnosis should be tested for Fragile X because it could affect other members of the family that may never be diagnosed otherwise.

  5. Mrs. Sherman says:

    I didn’t know until age 52 about my being on the autistic spectrum, on the Asperger’s side of the spectrum. I feel most comfortable with no more than one good friend at a time. During middle school, Junior High, my one friend was the girl with Fragile X sitting next to me in the first class, in Home-Room, where we would get our class schedules or other news and forms. She supplied insight to those things that I didn’t understand (social contact, trust) and I supplied a social link to supplement her weaknesses (memory, impetuousness). It was a good and fair friendship. I hope she is well. I turned out alright.

  6. Michelle says:

    My son is 5 (full mutation) and just started kindergarten this year. Before school began I went on both the fraxa and fragile x website to find literature to give to his new teacher and nothing seemed to be different from what from standard special ed practices. Article states professionals don’t know enough. I would like to get/know information/literature that I can forward to the professionals in my son’s life that is specific/different to Fragile X that they/I should know about

  7. María Silvia says:

    Hello From Argentina!

    Is there any approximate porcentage of people diagnosed as autistic but are FX? We use to participate in many medical events and this is an information that would be very usefull to inform.
    Thank you!

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