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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

  • Intense World, FHS was only first identified in 1973, if you look it up you get a lot of physical differences, but not much in the way of behaviour, intellect or other traits. So for instance, at school, my daughter was being told she was lazy, because one day she could do something, and another she can't. But speaking to other parents, it turns out they have reported similar things, and FHS childern seem to have problems retaining information. So I told the teachers, but because it's not in any report, they are sceptical to say the least. We see the pediatrician once a year, but he knows less than I do, which seems to be a common problem with rare conditions. So it is not that they wouldn't put support in for her (although thatis another battle!) It's that the professionals still don't have it down on paper exactly what the problems are with behaviour and learning, and that makes it difficult to get help in school for these children. Whereas if theyhad a diagnosis of autism as well, it would help schools toknow what to put in place and how to treat them.

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  • Intense World, FHS was only first identified in 1973, if you look it up you get a lot of physical differences, but not much in the way of behaviour, intellect or other traits. So for instance, at school, my daughter was being told she was lazy, because one day she could do something, and another she can't. But speaking to other parents, it turns out they have reported similar things, and FHS childern seem to have problems retaining information. So I told the teachers, but because it's not in any report, they are sceptical to say the least. We see the pediatrician once a year, but he knows less than I do, which seems to be a common problem with rare conditions. So it is not that they wouldn't put support in for her (although thatis another battle!) It's that the professionals still don't have it down on paper exactly what the problems are with behaviour and learning, and that makes it difficult to get help in school for these children. Whereas if theyhad a diagnosis of autism as well, it would help schools toknow what to put in place and how to treat them.

Children
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