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Here you'll find advice from parents and teachers on special needs education.

ASD diagnosis genetic testing?

6 replies

HollyJollyDillydolly · 17/05/2017 11:25

My dd(3.11) has had her mda and had received a diagnosis of asd. This wasn't unexpected but upsetting just the same. The paeditrician wants to refer her for genetic testing to rule out any underlying issues. Has anyone else had their dcs tested for genetic disorders? I understand the main one is Fragile X syndrome? Thanks :)

OP posts:
HollyJollyDillydolly · 19/05/2017 11:16

Anyone?

OP posts:
vickibee · 31/05/2017 06:42

My de had a blood test following his sad dx. The only feedback was he had a normal male profile. Was not really explained what they were testing for.

marriednotdead · 31/05/2017 07:22

My DS was tested after his diagnosis, and then me and his dad. They were looking to see if there was a genetic link as opposed to a random situation.
DS's results showed that he had an extra arm on one of his chromosomes which is commonly seen in people with ASD. My tests came back clear. Ex was tested twice but both times they went missing and AFAIK he never bothered following it up a third time.
However his nephew has autism and his own marked behavioural similarities to DS meant that he accepts that he is almost certainly carrying the gene.

HollyJollyDillydolly · 31/05/2017 11:23

Thanks for the replies. I wasnt sure if the genetic testing would be useful, I'm not convinced they'll even manage to.pin her down to take blood, it takes 2 if us to give her Calpol Grin

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pandyandy1 · 31/05/2017 22:21

Hi

My Son was tested for chromosomal abnormalities (micro array?) before diagnosis of Autism, but his tests were 'normal' if you like. No differences identified x

Amuminhongkong · 12/07/2017 17:08

That would be very specific genetic disorders. However there is a genetic test called 23andMe which you can order online. Perhaps your GP is doing something similar? The test is extensive and can indicate issues with folate and b12 (amongst other) methylation issues and deficiencies. The most well known is called MTHFR. many autistic kids would have homozygous MTHFR C677T (that is a double mutation on the gene meaning that they require a considerable amount of folate). The other could be compound heterozygous status (like my son). It can help to identify if tests are needed, if there might be deficiencies, detoxing etc, but it's not an exact science unfortunately.

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