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Some children with 22q11.2 deletion syndrome misdiagnosed as autistic

IntenseWorld

I really think that genetic testing should be done as a matter of course for all people being assessed for autism.  Not only would it avoid this problem but also would contribute hugely to the larger understanding of what causes autism and what component is genetic:

http://healthland.time.com/2013/09/18/genetic-condition-often-misdiagnosed-as-autism/

Parents

  • I find this interesting as I have a daughter who has a rare genetic condition called Floating Harbor Syndrome. They have recently identified the gene that causes FHS, and it is a mutation of 16p11.2. 

    I also have a son with Asperger Syndrome. My daughter displays lots of traits of autism, most of them are not the same as my son, so sheis not copying him!

    Although I can  see the point of the article re misdiagnosis, for me it would be helpful if she did have either a diagnosis, or at least some recognition of her difficulties, and that would help her in school. As it is, I have told the pediatrician,  he just says she already has a diagnosis, and doesn't take it any further. But in school (she is 11) it is not helping as there are only 50 diagnosed cases of FHS in the world, and there is not much information about it.

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  • I find this interesting as I have a daughter who has a rare genetic condition called Floating Harbor Syndrome. They have recently identified the gene that causes FHS, and it is a mutation of 16p11.2. 

    I also have a son with Asperger Syndrome. My daughter displays lots of traits of autism, most of them are not the same as my son, so sheis not copying him!

    Although I can  see the point of the article re misdiagnosis, for me it would be helpful if she did have either a diagnosis, or at least some recognition of her difficulties, and that would help her in school. As it is, I have told the pediatrician,  he just says she already has a diagnosis, and doesn't take it any further. But in school (she is 11) it is not helping as there are only 50 diagnosed cases of FHS in the world, and there is not much information about it.

Children
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