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Fragile X Syndrome

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Old 09-30-2006, 02:58 PM   #1
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Join Date: Mar 2004
Posts: 536
datgrlstef HB User
Fragile X Syndrome

I'm fairly new to the Autism forum.. my 3 yr old was just diagnosed a few days ago, after about a year of home-based therapy, and now about 3 weeks of developmentally delayed preschool. I knew from fairly early on something wasn't quite right. I had his hearing tested when he was about 18 months, and it was normal. However, he rarely ever looked at me when I called his name. There was not a whole lot of eye contact, and at age 2, he said about 5 words- none of which were mommy or daddy (or anything even simliar). His pediatrician seemed fairly confident that he did not have Autism, but because of my concerns, referred me to my state's program for children 0-3 with developmental delays.

When the psychologist gave me the results of her evaluation, she informed me that I might ask the pediatrician to have my son tested for Fragile X Syndrome. I had never heard of it before, but doing a search for Fragile X online came up with the foundation.. which has some startling information.

"Fragile X syndrome is the most common inherited cause of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females.

*For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation.

*Approximately one-third of all children diagnosed with fragile X syndrome also have autism.

*Fragile X syndrome is the most common known single gene cause of autism."

I find myself very curious if my son has this syndrome, and if he does, where he may have gotten it from. I have a cousin on my father's side, who was severely mentally retarded (he died in his 20's). And then a cousin on my mom's side who has Autism. I have no idea if either were tested for Fragile X, but IF we had our son tested and IF he has it, it would stand to reason this could factor into his (or even our daughter's) future- as parents, etc.

Have any of you had your children (with a diagnosis) tested for Fragile X? I feel that my husband (who took the diagnosis hard) would be somewhat relieved to know that there was a medical reason for (or correlation to) our son's diagnosis. Not that there is anything one can do about it aside from receiving education and therapy, but I suppose in some ways, knowing what might have contributed to the Autism is better than thinking it was just totally random, or that somehow we failed as parents (although we know this not to be the case).

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Old 09-30-2006, 08:18 PM   #2
Join Date: Jul 2004
Posts: 56
ferfyw HB User
Re: Fragile X Syndrome


My son was tested for Fragile X at approximately 10 mos old- the test came back negative. My son starting showing signs of autism very early so I took him to a pediatric neurologist as soon as I could. He was also tested for lead and some metabolic disorders. All of his blood and urine tests came back normal. He also had a 4 hour sleep deprived eeg -also normal results. I think it would be a good idea to get him tested for your own piece of mind. Most likely the results will be negative,but if he does have fragile x you might be eligible for more services (if your son needs them). Good luck to you.


Old 10-01-2006, 01:29 PM   #3
Join Date: Oct 2006
Location: Port Coquitlam, BC, Canada
Posts: 3
nikki83 HB User
Re: Fragile X Syndrome

It sounds lik eyou are from the US so this probably does not apply that much. My son was just diagnosed with Autism last week and I attended a seminar by a professional in autism. Canada's mainstream workup to a autism diagnoses includes many tests that are required to be done pre-diagnoses which I just found out. This list includes:
-Fragile X syndrome
-CT scan
-CBC (complete blood count)
-RBC (red blood cell count)
-TSH (thyroid stimulating hormone)
-Sleeping EEG

Some of these have not actually been done on my son (and I definitly will be requesting them now that I know they are required for the diagnoses). All of these tests will rule out other reasons and stimulants for autistic like symptoms. you may want to discuss these with your doctor to make sure you rule out other problems before going ahead with the autism angle!

Hope this helps some.

PS my son was tested for the fragile X syndrome. That was actually the first test they did on him.

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