Wednesday, January 26, 2011

Fragile X Syndrome



Recently My husband and I found out that we are expecting another little baby Due August 8th of this year. Today while at my OB appointment, Because of My brother's Autism Spectrum diagnosis, and my own son's Autism diagnosis, A nurse recommended that I get tested for the Fragile X gene to see if I am a carrier. I opted to go ahead and do the testing, I will get the results back in 2 weeks or so. So now I'm chomping at the bit wondering if this is going to turn up positive or not. If I do happen to be a carrier, Then I would definitely get Matthew tested, and I could also get the Baby tested. I'm actually a little frustrated that nobody has tested him for this before? Well at least it's getting taken care of now!

 While looking online and reading about Fragile X Syndrome, I found this site, and wanted to share. The paragraph I have copy and pasted below really stands out to me. In particular this sentence, "They are immensely friendly and amiable, thriving on contact and communication with others both one on one and in group situations. This is very different from autistic children, who often have immense difficulty in relating to others."

http://autism.lovetoknow.com/Autism_and_Fragile_X_Syndrome

This Paragraph stood out to me the most:

"Anyone familiar with the symptoms of autism can see why a child with Fragile X Syndrome might be thought to be autistic - the wide variety of symptoms easily falls within the characteristics of Fragile X. However, there is one major difference in the majority of males with Fragile X in terms of socialization. They are immensely friendly and amiable, thriving on contact and communication with others both one on one and in group situations. This is very different from autistic children, who often have immense difficulty in relating to others. According to the Child Development Institute, it has been shown that children with Fragile X who are integrated into "normalized" educational and social environments "achieve above the level that would have been predicted from measured IQ". Parents and educators are encouraged to test and evaluate children early to determine the best strategy for treatment.According to the National Fragile X Foundation, about 15-33% of the children with Fragile X Syndrome actually meet the criteria for Autism Spectrum Disorder according to the Childhood Autism Rating Scale (CARS). The wide variation comes partially due to changing diagnostic methods. Other genetic factors may account for the reason that some children with FXS have autism as well, but further study is underway to determine the factors."

Please if you have a child with Autism and they haven't been tested yet, Do yourself a favor and read up on Fragile X Syndrome, and get yourself and your child tested.  If not for anything more than a piece of mind. Believe me, I'll be making a post as soon as I find out whether or not I'm a carrier.

The signs of Fragile X Syndrome ::LINK::  This has some good information as well as a video. Check it out.

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