Fragile X Syndrome

Fragile X give symptoms simular to autism spectrum. Our son who is in the catch all of the spectrum (PDD-NOS) was tested for it. It is one of the few that have a deffinative gentic mark for dignosis, (Fragile X)

http://www.fragilex.org/html/home.shtml is the web site for the national group for it.

It is good to hear though no matter what is causing your little guys delays you are recieving early intervention as that can make a HUGE difference in the long term!

W.

I'm no expert, but I had my son tested for Fragile X when we were going through testing that ended in him being diagnosed with autism more than 7 years ago. Fragile X is strange - it can have very pronounced autism traits, and yet there are people who have it that are completely typical. I don't know the stats are on percentages of which...but it seems that it has a whole range of outcomes - so do not despair even if you decide to test him and it turns out he does have fragile X. My son did not. He is 10 and is fairly high functioning. Talks up a storm (though often resorting to his favorite topic which is currently Japanese animators - we're not Japanese but he has even learned a little as he enjoys watching his favorite Astro Boy DVD in Japanese with english sub-titles <I don't even know how to do that>) He reads very well, is in a typical grade 4 class with an aide <his attention span wanders> The main thing is - your son is developping (two p's in that word?)he's not standing still. He will - as all children do - develop at his own speed. Raising a child with special needs is sometimes a gift in a way - you learn what is really important, and you are cognizant of every milestone. With typical children you breeze through their childhood, but with a child with special needs - you cheer them on and then you watch them master each skill and the joy is unmeasurable. Hang in there - stay positive and keep nudging him up that ladder. You'll be the proudest mom at high school graduation.

D.

Hi M.,
Well I don't have children with Fragile X but I have a very dear friend who has three boys that was diagnosed with it. I don't know much about it myself but if you're interested in talking with her, email me at ____@____.com and I will pass you along to her. She is very active in research, education, and treatments/cures. I am sure she can tell you bunches and give you plenty of advice. Reeny

As far as I know it is a form a mental retardation that presents mucn like autism. I believe a simple blood test can help diagnose this. My son has classic autism and was tested for this when he was two. Good luck and early intervention is the best thing you can do for your child. I wish him the best.

We are looking into that for our son who is four and is currently enrolled in the special pre-school education program that is offered through early intervention. We have taken him to Dupont Hospital for evaluations and was recomended to get the fragile x probe done along with other test. I know it is blood work and it takes about 6 to 8 weeks to get back. I will send you more info when I get it.

Fragile X in associated with Austism Spectrum disorder. Fragile X is a genetic factor to some autistic children. My 4 yr old is dx'ed with PDD-NOS which is also on the Autism Spectrum. He has a lot of autistic traits but not dx'ed with classic autism--no the less, when he was dx'ed by our Children's Developemental Unit..they advised me to run a battery of tests..one being Fragile X syndrome. The autism ratio is 1-150 children have autism. 1 in 4 are boys. IF you carry the Fragile X gene, more than likely you will have child who may have Fragile X or autism. It is sad but its the facts. I do know also that IF you already have a child with Fragile X your odds of having another child are 1-2 that your next child will have autism.

I have a friend who's grown adult brother has Fragile X. She was tested to see if she carries it but she does not. That doesn't mean her child/children could develope the disorder (autism). If you got one on the "spectrum" you odds are already higher. IF you have a Fragile X child...the odds are even higher.

Again having an autistic child...I had to go thru all the testing. He's ok on that end but I am terrified to have another child due to the fact that my odds are high.

In the state of PA...the odds are 1-133. Heck in Washington State the odds are 1-67...........it's seriously an epidemic that no one can explain.

I'm not trying to scare you...just inform you of the facts. Feel free to message me if you have any futher questions.

Hi M.,

Fragile X syndrome is a genetic disorder that primarily affects males. In simple terms, females have two X's and males only have one X, one Y. The lower part of the fragile chromosome has some extra copies of part of a gene which makes the product it is supposed to code for faulty or missing. There can be several degrees of the disease, depending on how many extra copies there are - ranging from, say 6 to over 200. You could imagine the difference.

You'll read that this disease is inherited. And then you'll think - wait I'm not impaired (your ex doesn't matter because he gave the Y not the X - you gave the X) and my mother and father were not impaired, so how can this be inherited?? It's a little tricky - something called 'anticipation' where the number of copies of that extra stuff gets bigger and bigger with each generation and finally it's enough to cause some kind of impairment.

Here is a link to a few things that I have found helpful, and would probably ease your curiosity a bit.

First is a picture of the chromosome. You will see that the ones with the arrows pointed to them have a little 'bulb' at the bottom of them. The little string of DNA that attaches the bulb to the regular part of the chromosome is the faulty part. That's the extra. http://concise.britannica.com/ebc/art-1697/The-fragile-X-...

This site is the National FragileX Foundation. It's full of information and support. http://www.fragilex.org/html/home.shtml

As far as a test, you will probably need to meet with a genetic counselor or clinical geneticist. They will guide you for the appropriate testing for your son, yourself, and your daughter, should those tests be warranted.

Try to digest this with an open mind - it is possible that your son does have Fragile X, but it is also likely that he does not.

All the best,
C.
pax