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Genetics of ASDs

4 replies

el0fant · 04/10/2007 05:35

I read an interesting new theory today regarding the genetics of autism. It postulates a very simple model that would largely explain the complex discordance numbers associated with ASDs. If I can summarize correctly:

Sporadically, an egg or sperm cell will include ONE of a large number of simple, SPORADIC mutations that cause autism. (These, according to the model, represent the vast majority of autism cases.) A child with the mutation will often (particularly males) but not always manifest symptoms of autism. In either case, he/she will pass on the same mutation to half of his/her own sperm or egg cells.

It's written up here:
www.pnas.org/cgi/content/full/104/31/12831

I read about it here:
photoninthedarkness.blogspot.com

OP posts:
AeFondKiss · 04/10/2007 14:04

I will have a look later... school run about to commence.

deeeja · 06/10/2007 14:46

Well, I am beginning to think there is some truth in the idea that asd is hereditary.
My dh has dome facial ticks, which he didn't even realise until I pointed it out to him and he does have difficulty showing emotion, and organising his day leaving alot of jobs half-done, etc.
I can remember as a child not finding it easy to make friends, and always thinking I was right. Alot of my social 'skills' are learned, I find making small-talk almost painful, and have been accused of being cold and taking things too literally. Also, my eye-contact is something I have learned to do in my 30's, I got away with it, by looking occasionally. My prop was alwys a cigarette, so when I gave up, it became obvious. Now I have a habit of playing with my clothes, or rubbing my fingers together. My dh says I go on and on about the same topic, as if I am stuck. He prompts me about it now.
There have been people in my life, whose ability to make conversation has impressed me, so I have copied them. However, I do become 'stuck' sometimes, and my solution is
usually to walk away.
I love the internet, because I can hide here.
I have thought about getting a diagnosis, but I am forty now, and there doesn't seem to be a point. I have learnt to adapt to life.
It helps me to undersand my ds, and the help he needs.
Wow, I do go on and on and on and on.................... Must stop now!
Yes, I think it is true, in my case any way!
No-one else in my family seems to be affected, nor in dh's.
It could be one of many possible explanations. I think though that the idea about 'mercury poisoning' does have some basis. I have seen too many examples to think otherwise.

bullet123 · 06/10/2007 19:17

Both my son and I are on the spectrum so I'm convinced in the genetic factor .

Davros · 06/10/2007 20:48

There is no question of a genetic/hereditary factor. The debate is whether other things can trigger the genetic predisposition in some cases.

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