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Ria1989
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10 Nov 2011, 6:58 pm

So, I finally did some reading about fragile x syndrome. I'm nervous because I really think this might be my family's problem rather than Asperger's.
-My brother didn't talk until after the age of three.
-He has the facial characteristics of it, as well as me (to a small extent).
-The men are noticeably more affected than the women. He seems worse than me when it comes to social skills (talking in large groups) and making trustworthy friends.
-Mental retardation runs in our family, but so does extremely high IQ's. People with it have one interest that they're extremely good at because other interests seem difficult. This kind of goes along with Fragile X Syndrome: women are found to be okay at some subjects and below average at others.
-Alzheimer's runs in my family.
-Problem concentrating in school and reciprocating in conversations with new people.

It seems like we could just be carriers, if anything.

Is anyone familiar with this disorder? Just want your input to see if I'm over-thinking things.


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nostromo
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10 Nov 2011, 8:19 pm

I would say Autism in general presents with the characteristics you describe of your family, and I do not think there is a case for High IQ with Fragile X, but then there are different amounts of Mutation.

Regarding the facial characteristics I can tell you that when my son was DX with autism they did blood tests for Fragile X and sent them off, meantime I started spending ages on the Internet looking at information about Fragile X and pictures of people with it and starting to see their features in my son because of my worries.
Which turned out to be unfounded as the tests were negative.

Further on the facial characteristics, there has been some research that maps a set of facial characteristics in boys who have Autism (that is not attributed to a known cause like Fragile X) and it seems to differ from the general population but even more distinctly when compared with Fragile X:
http://www.cbsnews.com/8301-504763_162- ... res-study/

If your worried, I guess it would be worth getting the blood test done to find out.



Callista
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10 Nov 2011, 8:31 pm

There is a test for Fragile X... if you suspect it, then it'd be a good idea to talk about it to your family. The most obvious cases will be the ones with the facial features and MR. The nice thing about Fragile X is that there's a test that can be done for it directly on the genes, unlike for autism.

I checked on this--
Indications for Fragile X Testing

Now, with both autism and Fragile X, you'll have more male cases than female cases; so that's not a particular difference. With the females, you get milder intellectual disability or none at all; learning disabilities are common, though. So, sure, you can have a high IQ and Fragile X; but an average IQ is more common. The girls are less affected--two X chromosomes. And it comes in a variety of strengths depending on how many repeats of the gene you've got on your X chromosome, getting more severe as the generations go on. You've probably already read about that.

Anyway, if anybody in your family's thinking about having kids, maybe it's a good idea for you to mention this possibility to somebody, so they can get tested to see if they're carriers. Likely enough your family doesn't have Fragile X running through the bloodline, and you're just speculating wildly; but it's a common enough disorder that it's not impossible.


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Ria1989
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10 Nov 2011, 10:10 pm

Thanks for your suggestions. It's nice to get an outside perspective on this. It is weird because it was age three, and not four, when my brother started talking. It seems way too late to be normal but our family never looked into. Now my brother is thirty and struggling.


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