Fragile X vs. autism

[Nancy423]

just wondering if anyone had testing done for Fragile X. My coworker heard a radio program discussing an article about Fragile X and how autism may actually be due to Fragile X. They've got very similar characteristics. It was her light bulb moment for me LOL.
Here's that article:
http://www.npr.org/templates/story/story.php?storyId=94810949

Fragile X info:
http://www.fragilex.org/

I've tracked down difficult child's geneticist to see if we had testing done for this. Hopefully, I'll hear back from them tomorrow if the weather isn't too bad for them to get to the office LOL!!

Just wanted to post this in case this might point someone in the right direction.....

 

[BusynMember]

Fragile X is a hereditary disorder that mimics autism, but it isn't the cause of autism. Nobody knows what causes autism. There are certain features that Fragile X kids have. My son had a complete genetics scene, but he didn't have Fragile X. He has some dysmorphic features.

 

[TerryJ2]

My understanding is that the test for Fragile X is the only "real test" that helps determine autism. If you have Fragile X, you generally have autism.
I never got around to having my son tested for it. He has no physical characteristics of it and, frankly, I was tired of testing. I just didn't see how it would help us parent him any better.

Here is a quote section from the National Fragile X Organization:

• FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation.
• FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism.
• FACT: Fragile X syndrome is the most common known single gene cause of autism.

www.fragilex.org

 

[klmno]

I don't know anything about it- just wanted to send some support your way...

 

[Marguerite]

It's always worth checking at some point. I wouldn't order blood tests especially, but next time someone's got a pipe in, so to speak, taking a bit of extra blood for a Fragile X test is worth considering.

We had the boys tested back when difficult child 3 was 3 years old. They were negative for Fragile X.

Marg

 

[Steely]

I thought Fragile X was a similar in behavior but completely different in physical components. For instance, you would have noticed some physical abnormalities if he had Fragile X?
I am not sure.
Good question - insight anyone?

 

[30 and searching]

When my oldest was diagnosed with autism, shortly there after they ran a test to check for Fragile X . I thought it was a routine thing, and they checked all kids with autism for it, to rule it out. This was about 12 years ago, mind you... I could be wrong on that one. From what I recall of the doctor speaking of this, there are usually physical abnormalities associated with- Fragile X.

 

[BusynMember]

When my son was two or three and going for "Social Skills" at a community place, one child had Fragile X. He had a very long face and ears that stuck out--two characteristics I believe are part of Fragile X. He screamed a lot and, I have no idea if those with Fragile X are more severe, but he was a lot worse than most of the kids I know on the spectrum. None of this is "official" info, just my own observation of this child. He would not leave his mother to go in the room with other kids and would cling to her legs and cry, poor thing.

 

[LittleDudesMom]

I wish my mind could maintain information better.....there is a member here whose child has fragile X but I can't remember who it is! Hopefully she will see this post and respond.

Sharon

 

[Big Bad Kitty]

I actually worked with an adult woman who had fragileX. She had some very autistic qualities about her - her obsessions were the Cubs, Michael Jackson, and the movie Free Willy and she often talked to herself over and over about these things while pacing back and forth.

Her physical characteristics were not abnormal in any way.

 

[SearchingForRainbows]

difficult child 2 was tested for fragile x a little over a year ago (?). He is an Aspie, has anxiety disorder, not otherwise specified, pragmatic language disorder, and looks much younger than his chronological age of almost 17 years. Physically, he could easily pass for a 10 - 12 yr old. He is very small for his age both in height and weight. At the time the test was done, he showed absolutely no signs of puberty.

The test came back negative. He is followed by both a developmental pedi and a pedi endocrinologist. After consulting with both of difficult child 2's specialists, we decided to wait a little longer before giving him any sort of growth hormones. Within the last 6 months, he has begun to show a few signs of puberty. He has also gained some height too even though he is still small for his age. This has happened without any medical intervention.

From what I know, you don't have to have fragile x to be on the autistic spectrum. However, I agree with Marg - If you suspect it, it is worth having your child tested. WFEN

 

[Nancy423]

from what i was reading (all over the internet) was that girls tend not to be as severe as boys. and not all will have the classic facial features. I think that this is another type of diagnosis that could be easily missed because the "book" symptoms vary so much.

The info wasn't so much for me as it was to get the info out to anyone else still looking for a diagnosis.

I have a feeling that we did have her tested back in 05 and the results were neg. Still waiting to hear from the doctor on that....