SallyN wrote:
The most important thing one must understand about Fragile X is like autism it is a spectrum disorder, individuals may have little or no symptoms, or they could have severe symptoms.
You could have fragile X, a full mutation, and NOT have cognitive impairment, you could be very high functioning, especially if you are a female, or if you are a mosiac (which means you do produce some of the missing protein).
They have found many individuals in the pre-mutation range, they are carriers, may exhibit some traits associated with fragile X , Aspergers, Autism and/or ADHD.
As someone who has done genetics research, and taught college genetics courses, I wanted to clarify. The above quote is essentially correct. There is a spectrum of symptoms. It is also correct that there is an absolute genetic test for it. It's not quite yes/no; it's really no/premutation/full mutation, but still, you can find out exactly which of those 3 categories you fall into with only a blood test. If you think you have it, and want to know, then you can get the test from your regular doctor. (They'll have to special order it, but any family doctor worth his/her salt can do that.)
As for whether fragile x would invalidate a diagnosis of AS/ASD, I think it would, but I'm not at all sure, nor would I trust answers on a forum. That's a question for a psychiatrist (and you still might get different answers depending on who you ask). But, I don't think PDD-NOS would be the diagnosis; you'd get a diagnosis of fragile x.