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Children's health

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Original poster

Genetic test after ASD diagnosis

20 replies

Cherylshaw · 12/02/2019 23:36

Hi I was just wondering if anyone whose child has been diagnosed with ASD have done the genetics test? My son was recently diagnosed and offered a genetics test which I agreed to then later cancelled as me and dp couldn't agree I just wanted to know if any one has done this and what was their experiences? Was it worth it? Ds has not long turned 4

OP posts:

CactusPete · 13/02/2019 21:12

Genetics tests aren't offered as standard, it usually is because specific research studies are taking place at the time and your child meets the criteria for the subject requirements. DD1 ASD has never been asked to participate in genetic testing, DD2, who has a different condition which has received a lot of research funding, has. Nothing to be worried about.

FlagFish · 13/02/2019 21:16

Hi OP, my understanding is that it won’t be ‘worth it’ for your son, in that it’s unlikely to make any difference to him personally, but part of a much wider piece of research looking for links between ASD and genetics. I would agree to take part personally as I like the idea of contributing towards this kind of thing.

originalusernamefail · 13/02/2019 21:17

My son had genetic testing as part of investigations prior to his diagnosis of autism. I understand that it is to rule out genetic conditions that may have a similar presentation to autism rather than to identify a genetic cause for autism.

Mynci · 13/02/2019 21:18

Yes my DD had the genetic test. It was just a simple blood test, which was taken at the local children's hospital. We got numbing cream from the GP to apply beforehand so it didn't hurt. It took a while to get the results, a couple of months I think, which were negative for any known genetic reason for her ASD. My DS also has ASD but the paediatrician said only one of them needed to be tested.

DonaldTwain · 13/02/2019 21:20

My ds has these tests to rule out fragile x syndrome.

anniehm · 13/02/2019 21:24

We had genetic testing years ago when dd was diagnosed to screen for a handful of conditions that have autistic symptoms - she was very young to be diagnosed as a girl so they did extra checks. Hers came back with no issues but the family we met through the early intervention programme's daughter was diagnosed with Retts syndrome.

hazeyjane · 13/02/2019 21:28

There are many genetic conditions and syndromes which have autism or autistic tendencues as features or co morbidities. Would this not be the reason why?

Does your son have any other 'markers' that could signify an overarching condition (physical features, medical issues, other developmental issues or delays)?

SwimmingJustKeepSwimming · 13/02/2019 21:30

Is there a genetic test for autism then?

hazeyjane · 13/02/2019 21:34

Is there a genetic test for autism then?

No...but there are genetic conditions where autism or traits if autism are a feature (hence my previous post!)

lauryloo · 13/02/2019 21:34

We had this. It showed a chromosome deletion was the cause of her issues.

SwimmingJustKeepSwimming · 13/02/2019 21:39

Ah thanks Hazeley. My daughter is being referred at the moment and I wondered id I had it too. I was thinking it didnt seem as simple as a blood test.

butterflywings37 · 13/02/2019 21:40

It is definitely worth it as if there is an underlying genetic condition other medical testing and monitoring may be required.

mimi14 · 13/02/2019 21:44

My son had a genetics test following his ASD diagnosis. We found out he has a duplication of a tiny section of chromosome 6. Following the test me and his dad were tested too, and his dad has the same duplication, although no indications to show that he has ASD, meaning the duplication DS has is unlikely to be the cause of his ASD, if that makes sense.

Catsandbootsandbootsandcats · 13/02/2019 21:55

Yes, we got offered genetic testing when my youngest was diagnosed. I also have an older son with autism. We were offered genetic testing for him too, but I had newborn twins so never got round to it.

Anyway, we got youngest tested and nothing was found.

Original poster

Cherylshaw · 14/02/2019 00:09

Thank you for your replies I just couldn't seem to find much online about it
@hazeyjane he doesn't have any physical traits it's more social and he had a delay in speech not talking till he was 3, he is very advanced in certain things he has been reading advanced since he started talking (he has just turned 4 and has been reading and understanding Harry potter) his memory is unbelievable - he has a slight obsession with trains and ferry's and can name the majority of different ones. Along with his behaviour and skimming these are the main things that were referred.
I think my main concern is his age for getting a blood test, just seemed a little young

OP posts:

PickAChew · 14/02/2019 00:11

Both of mine just HD testing for fragile X.

But we're talking 10 years ago, now.

Original poster

Cherylshaw · 14/02/2019 00:19

I think we will get it done, seems like it will be beneficial, I'm just a worrier

OP posts:

Derpess · 14/02/2019 00:41

We were offered it because
We have twins both diagnosed with ASD.

My son was diagnosed first aged 4 and we weren't offered it then. It was only when his twin sister was subsequently diagnosed at age 5 the paediatrician said it would be useful to know if there was a
genetic reason.

There wasn't and unfortunately they both freaked out totally with the needles and were totally traumatised by the blood tests. This was despite there being a play therapist present. I dread to think what's going to happen if I ever need to take them for blood tests again...

Original poster

Cherylshaw · 14/02/2019 00:45

@Derpess that is my worry with it all! Thank you for your reply and sorry your little ones had such a horrible time

OP posts:

Jimpix · 14/02/2019 12:39

My dd has asd, my nephew has dyspraxia and my ds is being assessed for adhd. The paediatrician has offered us genetic testing but at the moment we haven’t been given any further information or know enough about the advantages and disadvantages to make a decision.

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