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Autism and genetics/siblings risk - please clarify!

14 replies

Xena1985 · 22/08/2015 08:36

Hi there everyone, my son was diagnosed with autism last month at four yrs old and I wanted to know the link between genetics and autism.

Is there any point in doing the genetics test? Would it show if me or my husband are carrying an 'autism gene'? As a friend recently told me the test just goes into a bigger pool of research to try and figure out a link apparently.

Also are children born with autism or is it something that develops later on? As that's what my GP said! That they develop it later...also what is the likelihood my second son will b autustic?

Many thanks

OP posts:
sunnyfriday · 22/08/2015 11:33

the autism gene does not exist. however, there are lots of deletions and duplications which are known to cause autism and statistically your are more likely to have another DC with ASD if a sibling has it.

I would request a referral to genetics for microarray testing. if something shows up, they will test you and your DP to see if you carry the faulty gene and you will have much more clarity

not sure what your GP means. ASD is a lifelong condition. you are born with it but often symptoms don't become apparent until a certain age

Xena1985 · 22/08/2015 12:03

Many thanks for your reply. In regards to having another autistic child would it not come down to the fact that autism is genetic and me or my husband are carrying the faulty gene? Even then would it not be a random chance? As you may inherit illnesses from your parents but perhaps your other siblings won't if I'm making sense!

Yeh the gp literally said kids aren't born with autism they develop it later on and it's not genetic!

OP posts:
sunnyfriday · 22/08/2015 12:04

my Dc's autism is caused by a new mutation (at conception). not passed on from either me or her dad. so you don't have to have it necessarily from a parent.

sunnyfriday · 22/08/2015 12:05

that is where it is helpful to know if you are thinking about another child.

sunnyfriday · 22/08/2015 12:19

they are called 'de novo' mutation if you want to have a google

DimpleHands · 25/08/2015 15:34

Hi OP

I had a very good look into this as my DS aged 2.9 has autism and I wanted to know the chances of any future children having it.

We went to see a geneticist who examined my son for any subtle physical features which might suggest a genetic abnormality (there were none). She then said he could have a blood test where they would do a test for fragile X (a condition associated with autism) and an array test which I think isn't looking for any particular gene but more any strange patterns or inconsistencies on a macro level (she described the array test as looking at a whole library of books and looking for shelves which might have fewer books, or too many books, or books stacked strangely, compared to the rest of the library!).

She did admit however that it was unlikely they would find anything that would pinpoint why my DS had autism. As a PP mentioned above - I think it's more to put the results into a very large database and hopefully one day that will help come up with answers as to the causes of autism. Because of the low chance of actually finding anything, I couldn't bring myself to put DS through the blood tests as he is so little. If he ever does need blood tests in the future for any other reason, we'll get it done then.

The geneticist told us that without doing the tests and with neither me nor DH having any history of autism in our families, the statistics said that the chance of any future child having autism was about 15-20% (I imagine a bit higher if a boy and a bit lower if a girl). However, this is not like cystic fibrosis or sickle cell anaemia where they can look at your genes and say, right, each of your future children has a 25% chance of having that condition (a bit like it's possible to give a set percentage chance of having a child with blue or brown eyes). This is just a statistic. For some people, looking at their family history and genes, they will have a much higher chance of having autistic children. For some, the chance of it happening again will be miniscule. Thing is, they generally just don't know who will have the higher or lower chance because they don't yet know what they are looking for.

Also, as others touched on above, a genetic abnormality does not necessarily mean that it was inherited - genetic mutations can occur spontaneously at conception and have nothing to do with the parents' genes.

And as for your doctor saying children aren't born with autism... well, I think most medical professionals would strongly disagree! I am sure my son was born with it.

In any event, the general consensus is that autism, in most cases, is caused by a combination of genetic and environmental factors (as I'm sure you're aware, theories abound about environmental factors that may play a part, such as pollution, medication, oxygen problems at birth - the list is pretty long and, in many cases, just guess-work).

I'll finish by saying that after much deliberation, we decided to go ahead and have another child and I am currently 6 months pregnant. We figured that even if the next child is autistic, he/she will still be a lovely brother or sister for DS. DS's diagnosis absolutely devastated me but 18 months on we are all generally pretty happy (especially DS who is one of the sweetest and happiest children I know). I remember at the time, when I was not coping at all, speaking to one woman at the National Autistic Society who had three children, the oldest one of which had autism. She said to me "You know, you don't love them any less - in fact you love them more". And that stuck with me and I know it's true for me too.

Good luck to you - I know this time isn't easy.

2boysnamedR · 26/08/2015 10:55

There's no one known gene for autism. There is a ddd study going on to look for common genes in developmental delays but the study group was closed in 2014. After the study more might be known. My children have had a full array done but only after two kids with delays. Getting this test is offered - not sure if you can ask for it, it's v expensive

2boysnamedR · 26/08/2015 11:03

Also are you in the uk with a uk doctor?

Your born with asd, you die with it in afraid. That's the most current thinking. America talk of "recovering" asd kids. But there's debate if they was wrongly diagnosed in the first place or if just having very early intensive intervention improves Asd kids up to a better functioning point. I think the former maybe as in America you pay directly for health care?

You must be feeling quite shocked and worried right now. Stick around and talk. Lots of very helpful people here

Xena1985 · 26/08/2015 20:24

Thanks so much guys for all your help and advice it's much appreciated and has clarified lots!! This may sound a bit weird but I kind of new that he would be diagnosed with autism since the nursery started to say he doesn't join in etc even though I was seeing him differently around my friends kids etc as he is very sociable, plays well and talkative. Which is why I want him to get the most support at school.
And though I accept his diagnosis and will support him in any way I can I would be devastated if my newborn son will be diagnosed with autism too I can't lie about that! Plus it was weird when my older son was diagnosed I was really upset for my husband and he told me he would always be proud of his son no matter what as I worried he wouldn't be for some mad reason Confused!

Thanks again guys it's very nice to know that I am not alone xx

OP posts:
Xena1985 · 26/08/2015 20:26

2boysnamedR yes I'm in the UK in the London borough of Ealing. I've heard gps are clueless about issues such as ASD

OP posts:
mummytime · 26/08/2015 20:48

Have you looked at or been in contact with the National Autistic Society? Its a good place to start to educate yourself.

Don't worry about your baby, after all there is nothing you can do - and at present he's just a baby.

Concentrate for now on learning more, and finding out what areas your son needs help in. People with ASD are as varied as anyone, there is no right way to help them (there are some wrong one though!).

My GP isn't too bad, and to be honest if yours really thinks ASD isn't present at birth but develops later - they need to re-educate themselves, or you need to look for a new one.

Xena1985 · 26/08/2015 21:04

Yeh I've been reading loads, maybe too much lol! I've been referred to the early bird plus in September so looking forward to that too.

OP posts:
zzzzz · 27/08/2015 09:07

This reply has been deleted

Message withdrawn at poster's request.

2boysnamedR · 27/08/2015 10:32

I know what it's like worrying about a baby when your pg. my youngest had a test for fragile x when I was pg. they found something else and then tested us and dh carries a genetic duplication. I was told the baby has a 50:50 chance it was passed on to her. I won't relax until she is walking and talking

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