DS1 just diagnosed with ASD and been referred to geneticist

[loueytbg]

Does anyone know what they might be looking for or what tests they do???

He has already had the standard tests which were clear - fragile x, basic karyotyping.

We had a meeting last week with his paediatrician and SALT who diagnosed him with ASD. He is still very wobbly on his feet and walks into things/falls over a lot. They agree he is also dyspraxic. Paed wants further genetic input but I don't know what they will look for. Also he said that we should be tested in case we are thinking of having any more children.

What I didn't say at the meeting (too shell-shocked by diagnosis) was that we are currently TTC and in fact I had a MMC in March at 12 weeks. I am slightly putting my head in the sand and thinking that the diagnosis makes no difference to TTC but part of me wonders whether DS1 has a underlying genetic condition that can be tested for. Time is not on our side (I'm 37) and the referral to genetics and then any testing could take months.

Anyone been in a similar situation?

Can you phone them and ask them if there is anything specific they are looking for?

Sorry for your news though! It's tough at the beginning.

Like Leonie- we refused testing, we have 2 girls on the spectrum, they have not been tested for fragile x. We suspect it is genetic as both DH and i show signs of being on the spectrum. A pead told me that the chances of having another child on the spectrum is 30% if you have 1 child on the spectrum and 60% if you have 2 (but there is no evidence that this it true). At the moment (i think) there is no way of telling if your next child will be autistic.

I would phone and ask what they are looking for.

I agree with marne - whatever they are looking for ( and you could follow it up for interest), it won't give you any real answer about whether next child likely to be affected. It is very scary and I was very worried that DS2 would turn out to be most severely affected child in the world as I was expecting him when DS1's problems became clear - but he wasn't and is completely NT

Thanks for your replies. It sounds like there isn't something that leaps out at you all which is comforting.

I realise that if it is just autism then there is no way of knowing whether any future child is likely to be affected. I should have said that DS1 is a twin and DS2 is totally NT. So we have an interesting comparison....

I will try and get hold of the paediatrician and see if there is anything in particular he was thinking about. My instinct was that he really doesn't know and wanted to see whether the geneticist might have any ideas. He said he will refer him for an MRI if genetic testing comes back clear, although again he is not sure that will show anything either. Its the last resort though because he will need sedation.

Although I can understand why people would refuse testing, I would rather know than not.

This purely anecdotal so probably does not mean much but I have met or known of 3 mothers in our area who have 1 NT and 1 ASD twin (non identical). Could it be a factor? But on the other hand, of all the male ASD children I have met in our area, 60% of them have the same name (!) so who knows...

We did the testing because here they also test for metabolic disorders and things that might change the treatment. At the same time they tested for fragile X, q22, etc. which they said was really more for their purposes than anything else (apparently because most kids with ASD aren't tested for fragile X they don't really know how many kids it affects and still don't know much about it, even though it's very common). We were more interested in the metabolic stuff, obviously, but had no real problem with them testing for genetic stuff at the same time. It's also much more common here (I'm in France) to do MRI and EEG to rule out brain damage and epilepsy. We didn't have MRI and EEG came back clear, so we were just back to it being one of those things, which suited me because it's nice to know that DD is perfectly healthy, TBH...