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ASD and Genetics - DDD Study

(4 Posts)
SallyBear Thu 02-May-13 06:56:53

We had a huge appointment yesterday with our Geneticist to try and uncover what my two children have. DD was clinically dx in 2000 as having Treacher Collins Syndrome, and since then we have had blood work tested for three genes responsible for TCS but all are negative. What really shocked her was DS4. She hadn't seen him since he was 2, he is now 6 and his Autism is very obvious. She said that there are links to ASD and other genetic conditions including Craniofacial Syndromes. DD's entire genome has been mapped but unbelievably the lab in Germany still has not submitted the report!

So are there any of you with knowledge or experience of ASD linked genetic conditions? If so what are they and did you get it gene tested? We are now being included in the DDD study now.

auntevil Thu 02-May-13 09:36:32

Not really in the same field Sally, but we are seeing a geneticist, who thinks that our family need 'sorting out' grin
Our dx is currently Ehlers Danlos - so nothing in the realm of yours. What the geneticist did say was that the current medical definition for dx is incredibly narrow. So if you go online to look at symptoms, they are just the medically recognised ones.
What she said was that anecdotally, the 'extras' that I discussed, are so common that she wouldn't be surprised that in a few years that some of these also get included into the formal medically recognised symptoms. The more that families get involved and patients are mapped the more that is known and that ultimately changes the medical perception.
We discussed sensory processing, soiling, food intolerances, difficulties in eating, dyspraxia, dyslexia - common co-morbids with ASD as well.
On the negative side, as each of these are managed by non geneticist consultants, the link to the genetic condition is often overlooked.

bassingtonffrench Thu 02-May-13 10:21:54

i have pmed you!

SallyBear Thu 02-May-13 13:04:17

Thank you. It's good to know that there are others going through the rigours of gene testing and are also in that no-man's land of "it could be"

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