Does Everyone With Autism Have Fragile X Chromosome Syndrome? | MyAutismTeam

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Does Everyone With Autism Have Fragile X Chromosome Syndrome?
A MyAutismTeam Member asked a question 💭

My grandson who is now 4 yrs and 5 mos went for a re-eval to his neuro and was diagnosed with ASD 14 months ago, and is only now being referred for testing for fragile x. why the delay, and what do we do if it is positive?

posted July 26, 2013
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A MyAutismTeam Member

Thank you all in re to fragile x--especially about finding out if insurance will cover it...what a world....

posted July 26, 2013
A MyAutismTeam Member

There are more than a dozen known genetic conditions that have ASD comorbid diagnosis. FragileX is just one of them with a third of kids may also be diagnosed with ASD. However in ASD, fragile X is rare (2-5%) but more than general population. Some of the genetic conditions such as PKU if diagnosed early can be addressed with meds and the most clinical utility for testing would be for known genetic conditions that cause mito disorders which also be alleviated to some extent. Personally, I would only test fragile x if it was free/covered by insurance.

posted July 26, 2013
A MyAutismTeam Member

I have found that most of the time a good Dr will have a child tested for fragile x if they are diagnosing an ASD child because some traits are the same in both. I would have the test done but I would not go all out for genetic testing because they most likely will not find anything and it costs a lot of money the insurance may not pay for.

We did it and to be honest if I knew then what I know now I would not waste my money. We got no answers and it would not have changed anything regardless.

posted July 26, 2013
A MyAutismTeam Member

Fragile x chromosome is rare. But it is the standard to get evaluated for it after receiving a diagnosis of autism. It's a simple test and doctors just seem to want to eliminate that as a possibility. I think the doctor must have realized his oversight and is making sure.

I'm not aware of any different treatment if the child has fragile x. If it is positive, just do your research and learn more about it.

posted July 26, 2013

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