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

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
  • FYI, a geneticist at Children's Hospital of Philadelphia (CHOP) in the U.S. is awaiting approval for a medical registry for Floating Harbor Syndrome patients. Researchers working on the project will create a repository of medical information on FHS patients who volunteer. CHOP also has a clinic for children with 22q11.2 deletion syndrome and is a leader in that area.

    I hope this project (mentioned on floatingharborsyndromesupport.com) will assist all of us in getting the medical and educational assistance our children need. Best of luck with the schools.

Reply
  • FYI, a geneticist at Children's Hospital of Philadelphia (CHOP) in the U.S. is awaiting approval for a medical registry for Floating Harbor Syndrome patients. Researchers working on the project will create a repository of medical information on FHS patients who volunteer. CHOP also has a clinic for children with 22q11.2 deletion syndrome and is a leader in that area.

    I hope this project (mentioned on floatingharborsyndromesupport.com) will assist all of us in getting the medical and educational assistance our children need. Best of luck with the schools.

Children
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