Autism and Fragile X Syndrome

Updated on November 16, 2006
T.T. asks from Morris, AL
5 answers

My son was diagnosed with Autism in May '06. I read a post by a mom on a different site and noticed similarities in her son and my own, the only difference was her son had been diagnosed with Fragile X syndrome. I made an app. w/ UAB genetics clinic and our app. was yesterday. They did three test and the results will be back in 4-6 weeks instead of the norm 2-3 weeks because of the holidays. Durring the physical exam the doc. said he did not see any physical features that would make him think the test would be abnormal. This made me feel better but I read that people usually do not show physical features until puberty. Can they tell by looking at a young child whether or not he has this? If anyone has any insight or information on physical/ behavioral characteristics in a small child with Fragile X it would be greatly appreciated. I guess I am just impatient about the test results and want to know more about what they were looking for. I am left with more questions after the app. than when I went in. I should have asked more questions but they didn't hit me until the car ride home.

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So What Happened?

I just wanted to say thank you to everyone who took the time to share advice. After annoying the crap out of the doctors and receptionist I finally got the answers to my questions.
We recieved the results of all three test today. We are delighted. They are as follows:

Fragile X syndrome : NEGATIVE
Karyotype analysis: No chromosome abnormalities detected
telomere analysis: No chromosome abnormalities detected

More Answers

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Y.A.

answers from Mobile on

Hi, I have one Aunt who has 6 children. Of those 6 children, 2 of them have kids with Fragile X. My one cousin has 3 of her 5 children with it and the other one has 3 out of 4 with it. All of the children look perfectly normal, except one. They do exhibit more features as they get older. I haven't really delved too deeply into the disease, I just know how much all my cousins struggle with it. They do extremly well with a well organized and structured environment, which is hard at first, but much easier with time. They just make sure that everything is the same, basically, every day. If you do plan on having more children, Fragile X has been linked to shortages in Folic Acid in the mother before & during pregnancy. So, go out and get a good multi-vitamin and start taking it (really, you should do this for better health anyway) at least 6 months before you try to conceive. I hope that helps a little!
Y.

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S.K.

answers from Augusta on

If you have questions that you wish you had asked the doctor, go ahead and call him. If he's not in or busy, leave a message with your questions. He or a nurse should be able to get back to you within a day or two with answers.

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S.

answers from Spartanburg on

Fragile X is the most known cause of autism and autistic behaviors. It is genetic unlike autism which they really don't know much about how it develops. Fragile X can often be misdiagnosed as autism without the proper tests. I suggest going to this website www.fragilex.org and they can offer some more help and insight for you. I do wish you the best.

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M.L.

answers from Charlotte on

Hi T.,

Unfortunately, I am not aware of Fragile X. I will say a prayer for you and you child. The only advice I can give you is if you have questions write them down and then call the doctor's office to get some answer. The not knowing is enough to drive you crazy. If you can't get the answer, find a support group and emailed them or call they can help answer your questions as well. Good Luck and I hope things will work out.

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J.J.

answers from Richmond on

Hello my son which is seven years old also has autism and the genetist thought he also had Fragile X Syndrome she thought that just by looking at my son so I wouldn't jump the gun yet because the genetist usually can tell just by looking at them. But my sons blood test came back normal. But the genetist is doing more tests and is contacting other genetist because she does see a gentic syndrome in him she just doesn't know what. I learned that we as moms have enough to worry about we don't need to worry about things that have not yet come to pass. I need to listen to myself more often.

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