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

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.

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?

...so yet another example of professionals not listening to the parents, who are experts in our own children.

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.

Surely with a diagnosis of FHS that entitles to her to the support she needs because of her condition?  They can't say "oh well, there aren't many cases out there so we don't have to put supports in place"?

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.

This doesn't surprise me - from what I understand, 22q11.2 isn't (unlike Autism) that common condition.

When I was at college, I was wrongly diagnosed as Dyslexic. The only evidence they had was a screening test, which completely ignores (it's computer based) other diagnoses which may cause the Dyslexia trait I have. Whereas the full test takes into account other disabilities; as it's done with a human and not by computer. I also had evidence that I am sight impaired, which explains the Dyslexia trait I supposedly have.