inversion cromosome 7

cathy01

Hi all, I need info on the relation of this and ASD.
Does it cause developmental delay or,
Could you have a female with Inversion7 and ASD.
Someone please point me in the right direction.
0.9% of the population have inversion 7.
I know I have a chance in hell of info,
but sure if you cant find someone on boards to give advice, there no point looking??????
Cathy
ps, please excuse my dylsexia.

Gibs

My knowledge of this is a bit sketchy but here goes:

An inversion on Chromosome 7 is commonly known as Williams syndrome. It used to be thought that Williams syndrome was caused by a deletion on Chromosome 7 but now it seems that it's an inversion. I remember reading somewhere - I think it was Temple Grandin, the well-known US woman who has autism and writes about it, that Williams is like the opposite of ASD (by the way, I presume by "ASD" you mean Autistic Spectrum Disorder? - With Williams ASD can also mean Atrial septal defect, which is a cardiac complication of the condition).

Some of the research suggests that Williams is very different from ASD. People with Williams are extremely chatty and friendly and have no sense of danger when it comes to strangers. They also appear to have some level of TOM (theory of mind - Baron-Cohen's notion that those with autism differ from neurotypical people primarily because autistic people don't have a real understanding that other people have a mind that is different to theirs) and they can answer questions about what other people are thinking. However, there are some researchers that have suggested that Williams is not entirely different from ASD in that the TOM demonstrated by those with Williams is limited and people with Williams often experience very significant social difficulties. This happens because despite the fact that they are very sociable and will talk in a very voluble and charming way to anyone and everyone, they don't pick up on the normal cues of conversation and people can find it exhausting and frustrating talking to them as a result.

The main difference between ASD and Williams is that Williams is a very specific disorder, caused by a very specific genetic variation, whereas ASD is (probably) a family of disorders, with multiple pathways towards its development.

Here is a link to a story published in the last month about Williams - very informative too!

There is also a Williams Syndrome Association in Ireland. You can find them here

cathy01

Hi ya, thanks for that I have contacted Dr Andrew Green and he is on the case.

Thanks for your help,
Cathy