Anyone ever been tested for having the Fragile X genome??

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Averick
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16 Mar 2008, 3:21 pm

People who have the Fragile X gene typically have autism that runs in the family.

"For example, about one in 800 males is a carrier and not affected (even though they have no normal copy of their X chromosome). However, males who have the full mutation are almost always affected. Most recent studies indicate that 10 to 15 per cent have mild learning disability/borderline normal IQ, 75 to 80 per cent are moderate learning disabled and 10 per cent have severe learning disability.

One woman in 259 is a carrier of fragile X. Premutation carriers (those who don't have the full mutation) don't have learning disabilities. In women with the full mutation, one third are below normal IQ, one third have a borderline IQ and the remaining third have a normal IQ.

Many people who have the gene don't have a fragile chromosome. These complexities have important implications for the risk of passing the disorder on through a family."


I've never been tested for it to my knowledge, but I would like to see it's relationship, it any, with autistics.



zee
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16 Mar 2008, 3:33 pm

So your definition of autism is someone who has a low IQ?



silentchaos
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16 Mar 2008, 3:46 pm

He never said that. Seems interesting, perhaps that is how classic autism,AS( if it isn't just autism in a different manifestation or better coped with), and some of the other spectrum stuff like ADD are related?



zee
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16 Mar 2008, 3:52 pm

silentchaos wrote:
He never said that. Seems interesting, perhaps that is how classic autism,AS( if it isn't just autism in a different manifestation or better coped with), and some of the other spectrum stuff like ADD are related?


Well, he said normal to below normal; like it's not possible to be autistic and have an IQ above normal.
It's proven that mercury and heavy metals lower your IQ, so if you believe in his definition, you might as well believe that vaccines cause autism after all.



hyperbolic
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16 Mar 2008, 3:53 pm

Interesting. It is certainly plausible that those with Fragile X who have normal and above average IQs end up being diagnosed as Aspies in some cases.



Zsazsa
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16 Mar 2008, 3:54 pm

There are many outward physical "signs" of fragile X syndrome...before one has to obtain a laboratory/chemical analysis...
Fragile X and Autism is like comparing apples to oranges.



Hector
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16 Mar 2008, 4:09 pm

There seems to be some correlation between fragile X and autism, but I haven't read up on it that much. Anyway, shortly after being diagnosed with autism I was tested for fragile X, and I didn't have it.



Sora
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16 Mar 2008, 4:13 pm

In a small amount of cases Fragile-X is diagnosed as autism (before Fragile-X is recognised), because the individuals show either autistic traits or the full blown picture of autistic symptoms. That's what the two are connected often in media and research.

But it seems, at least that is what I have read, so no guarantee on it, it's not usually the case that a person with Fragile-X displays autistic traits or actually fits a diagnosis of autism.



Tortuga
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16 Mar 2008, 4:29 pm

The pediatrician ordered Fragile X testing for my son after he was diagnosed as having ASD. I didn't ask for the Fragile X testing and I didn't think it applied to my son since he's so smart and no one has Fragile X on either side of the family tree.

Turned out, he does not have Fragile X and is not a carrier. I guess knowing that he's not a carrier is a good thing. That's one less thing to worry about if he decides to have children someday.



Averick
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16 Mar 2008, 4:41 pm

I don't agree with the blanket statement, "Since one is autistic, he/she must be retarded."
I didn't say that, nor did I allude to it. (the statement in italics was from a different source, not my words)

I just wanted to see if anyone here has been identified as being autistic and been diagnosed as a carrier of fragile x. There is some correlation between the two.

The reason I ask is because I might be a carrier of fragile X. I also display mild variants of possibly having Marfan Syndrome. Anyone here possibly knowing more about these?
(I think most of these morphologies are interrelated, anyone else agree??)



Averick
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16 Mar 2008, 5:48 pm

Maybe I should make a thread on morphologies that are generally associated with autism.
It'll take me some time to accrue a list...



Mage
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16 Mar 2008, 6:52 pm

When my son first was diagnosed with global delays they suspected a possible genetic cause, and he was tested for fragile x. That came back negative though. I'm sure it is a possibility that many people with fragile x might be mistaken for autistics, but from what I understand it is a separate problem that is not on the spectrum at all.

From what I understand fragile x also has many physical features, such as elongated fingers, that might make it more easy to distinguish as one grows older.



MissConstrue
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16 Mar 2008, 6:55 pm

Around how much would the testing cost, I'm curious?



Averick
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16 Mar 2008, 6:58 pm

I think DNA test cost 500 dollars.



MissConstrue
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16 Mar 2008, 7:03 pm

8O Oh geez!



Averick
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16 Mar 2008, 7:09 pm

It's covered under insurance if you get a doctor to approve it.