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Genetics testing and ASD traits

(14 Posts)
NotLongUntilXmas Tue 25-Mar-14 20:31:40

I took DS (2) to see a paediatrician today, after being referred by GP.
After a few minutes of chatting and observing she suddenly asked

NotLongUntilXmas Tue 25-Mar-14 20:34:42

Posted too quickly by mistake.

......she suddenly asked who DS looks like. She went on to mention that genetic testing is sometimes performed. DS has a thin top lip, nothing like DH or myself, or our other children. I know I should have asked at the time, and googling is not helping. Has anybody heard of this? DS has been referred to a children's development centre for assessment of possible ASD.

Turniphead1 Tue 25-Mar-14 21:03:07

Didn't want to leave this unanswered. The main genetic thing I think of with autism is Fragile X syndrome. But thin lips are not in the facial characteristics.

The only thing I could find that lists think lips is Angelman's syndrome. Have no idea however if that is what your doctor was thinking about testing for.

Turniphead1 Tue 25-Mar-14 21:11:53

Sorry I also see that Angelman's Syndrome can be very very serious. I hope I haven't caused you worry or upset. I am sure you are already worried that he has been referred. I speak as someone who has a child with ASD.

autumnsmum Tue 25-Mar-14 21:21:45

My dd 2 was sent for a microarray genetic test after being diagnosed with autism it didn't show anything up

NotLongUntilXmas Wed 26-Mar-14 12:06:36

Turnip, I've read the info about Angelman's and, thankfully, it doesn't seem to correspond with my DS, thanks for looking though.
I'm intrigued and will definitely ask what they might be testing for at the next appointment. My dad mentioned ages ago that DS has a completely different mouth from his siblings so now I'm curious.

NotLongUntilXmas Wed 26-Mar-14 12:10:36

Thanks for the name of the test, Autumnsmum. Something new for me to research. I've read so much about ASD, SPD and speech delays that I keep changing my mind about DS. Sometimes I watch him and think "He's just slow to speak" and at other times I know it's something more than that.

autumnsmum Wed 26-Mar-14 14:39:00

Not long nice to meet you

doobryferkin Wed 26-Mar-14 17:45:15

Have you ever heard of 22q11.2 deletion syndrome? One of the facial characteristics is a thin top lip and autistic traits can also feature with this syndrome (there are actually over 180 anomalies associated with 22q11!)It's presentation is very variable-no two people present the same symptoms thus making it often difficult for professionals to spot the signs. A microarray test will detect if there is a deletion.

doobryferkin Wed 26-Mar-14 17:47:23
This site has lots of information that you might find useful.

NotLongUntilXmas Thu 27-Mar-14 20:45:56

Thanks doobryferkin. That website was great and I've been reading about lots of others today.
Interesting to know that children present differently, made me a bit more open minded about the possibility of it being genetic.

Pinkglow Fri 28-Mar-14 09:56:18

I got asked to be tested in the Summer. Something to do with ASD being in the family and DS's nose. Although DS's nose and my brothers nose are nothing like eachother at all.

autumnsmum Fri 28-Mar-14 10:20:02

I think it's genetic in our case . I have 3 children dd1 has one father and is nt . The younger two have a different father and are both autistic although dd2 is more severe

beautifulgirls Fri 28-Mar-14 21:52:45

DD1 was tested after her ASD diagnosis via the microarray testing. In her case it revealed a partial chromosomal deletion. Her other issues all make a lot more sense now having read up more about her specific issue. She has "soft" markers for a genetic problem though the ASD doctors would not have routinely tested her - it was because I pushed for it in the end and they were very surprised when it showed up an issue. The power of the internet...!

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