Digeorges Syndrome

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Does anyone know much about this, and is there a link between it and autism or aspergers? My brother suggested I have it and am not sure.

Not likely.

http://www.ncbi.nlm.nih.gov/sites/entre ... t=Citation

There are a couple symptoms that are clearly contrary to AS, and several others that nearly no AS people have. As for the rest, the description isn't good enough, to fully exclude them, but I know most AS people don't have THOSE either!

This was one of my interests a few years ago. I was born with mild Goldenhar syndrome - I have a asymmetrical face, some bone missing from my jaw, I had a wide mouth due to an extremely rare cleft lip (a type 7) that needed surgery (before it was corrected I could not suckle and had to lick milk like a cat) and I a few cysts on my left ear removed. I also have a mild heart abnormality.

DiGeorge syndrome is one of several 22q11 deletion syndromes. They are also known as Catch 22 syndromes - there are many different types. Yes, children with 22q11 deletion syndromes often have AS and autism in childhood - however, when most reach adulthood they fair much worse and are more often diagnosed with schizophrenia. Thus, the 22q11 deletion condition is researched for candidate genes for schizophrenia. Also, the condition is associated with cleft palate and distinctive broad nasal bridge etc.

That said, there maybe a spectrum between 22q11 deletions (velocardiofacial syndromes) and other "milder" craniofacial abnormalities that include Goldenhar and hemifacial microsomia, so called facio-auriculo-vertebral syndromes.

Also, 1/3 of children with Goldenhar have mild autistic like traits, including AS. I would suggest that small deletions in the 22q11 region might cause cases of hemifacial macrosomia and Goldenhar, and also explain why people with these conditions have a much greater risk of developing ASDs.

If you want to be checked for 22q11 or other deletions - ask for a FISH analysis. It might be free depending on where your living e.g. UK (I think its €200 here in Ireland).

It says in the description that Digeorge's Syndrome causes mental retardation. It actually says it's a common cause of mental retardation. By definition, one can't have mental retardation and AS at the same time.

I have DiGeorge Syndrome. It affect all my body to name a few my heart, immune system and thymus gland. I had speech delay and said my first scentence when I was 4 and a few months. It was about the moon. When I was starting to talk I showed a few symptoms of Aspergers. E.g. talking about the same topic and watching the same documentary over and over again untill I learnt the script. I would have a tantrum if somebody sit in "my chair" at the table (and I still do) and I still can't ride a bike/ tie my shoes. It sort of "progressed" as I got older. On my first day at my new school it took 1 hour for me to get out of the car because I was so scared of meeting new people. The thing that got me to get out was an office workers puppy. And I called a girl fat without realising that it was rude and of course I had a crying fit when they told me. Now as a 4 teen I have mild sensory issues and I can't understand social ques and literally never make eye contact. Im not into doing my makeup and hair and I'm unawear about fashion and pop culture. I still have tantrums and I have small ticks like blinking a lot and nodding my head. And for some reason I haven't need diagnosed with Aspergers Syndrome yet and I honestly don't know why. It's been obvious since I was little