• Replies 7 replies
  • Subscribers 25 subscribers
  • Views 2143 views
  • Users 0 members are here
Options
Related
Hints and tips
  • To quote someone's message, first select/highlight the relevant text, and then use the Quote button that appears
  • To "mention" someone, type @ followed by the start of the forum name, and choose from the list; that person will get a notification of being mentioned

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

  • Just done some quick Googling to familiarise myself with the condition, I see it's other names are Pelletier-Leisti syndrome and Leisti-Hollander-Rimoin syndrome.  I guess you will know all there is to know about it already, but just in case, in found these:

    http://floatingharborsyndromesupport.com/

    Here:

    http://ghr.nlm.nih.gov/condition/floating-harbor-syndrome 

    ...it says, "Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most affected individuals also have mild intellectual disability."

    That link also links to this regarding educational resources:

    http://ghr.nlm.nih.gov/condition/floating-harbor-syndrome/show/Educational+resources

    Interestingly, it states that clinodactyly is a trait (inward curvature of little finger), and that is also a trait in autism (though not everyone has it by any means, camptodactyly [inward flexion of fingers] is another one) so I wonder if it is a type of autism, or at least is somehow related.  It certainly gives some autistic traits.

    You could print off some of the information from one of those links to show the school and point out that she is entitled to the same support as someone with those traits that has a diagnosis of autism.  You probably know that you can apply for a statement of SENs yourself from your council's SEN department and that a child doesn't necessarily need a diagnosis to get a statement?

Reply

  • Just done some quick Googling to familiarise myself with the condition, I see it's other names are Pelletier-Leisti syndrome and Leisti-Hollander-Rimoin syndrome.  I guess you will know all there is to know about it already, but just in case, in found these:

    http://floatingharborsyndromesupport.com/

    Here:

    http://ghr.nlm.nih.gov/condition/floating-harbor-syndrome 

    ...it says, "Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most affected individuals also have mild intellectual disability."

    That link also links to this regarding educational resources:

    http://ghr.nlm.nih.gov/condition/floating-harbor-syndrome/show/Educational+resources

    Interestingly, it states that clinodactyly is a trait (inward curvature of little finger), and that is also a trait in autism (though not everyone has it by any means, camptodactyly [inward flexion of fingers] is another one) so I wonder if it is a type of autism, or at least is somehow related.  It certainly gives some autistic traits.

    You could print off some of the information from one of those links to show the school and point out that she is entitled to the same support as someone with those traits that has a diagnosis of autism.  You probably know that you can apply for a statement of SENs yourself from your council's SEN department and that a child doesn't necessarily need a diagnosis to get a statement?

Children
No Data