Is anybody here dxed with a syndromic form of autism?

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Liblady
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30 Sep 2013, 11:58 am

And at least one of the Swedish studies have found an even higher correlation of CHARGE with autism than Mobius or OAV. It appears that almost all neural crest disorders greatly enhance the risk of autism spectrum disorders. M Johansson is one of the authors associated with the Swedish studies, if you wish to search the medical literature.



Liblady
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30 Sep 2013, 12:49 pm

I just came across this pdf mapping genetic deletions to syndromes and associated studies. You should find this interesting.
I didn't see OAV on here, but noticed a number of 14q32 deletions not involving OAV implicated in autism. http://www.signaturegenomics.com/docume ... BR-021.pdf



BeggingTurtle
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30 Sep 2013, 3:34 pm

Isn't autism idiopathic in general?


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Liblady
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01 Oct 2013, 1:18 pm

Question: What Is Idiopathic Autism?

Approximately 85% of autism is "idiopathic." What exactly does that mean - and how does it relate to your situation?

Answer: When autism is of known origin (caused by a known genetic anomaly or exposure), it is referred to as "secondary autism." When autism is of unknown origin, it is called "idiopathic autism."
In about 15% of cases, doctors can pinpoint the cause of autism. But while there are over a dozen established causes of autism, most are very rare genetic disorders or prenatal exposures. As a result, 85% of people with autism have what is called "idiopathic autism," or autism "of unknown cause." The remaining 15% have "secondary" autism - autism caused by a primary disorder or exposure.

If you have a child with autism - or are an adult on the autism spectrum - chances are you don't know, and won't know, which precise factors caused the disorder.

The above answer was from Lisa Jo Rudy on About.com.

It simply means that 85% of the time, doctors don't have enough information to determine the cause of the autism. Most of us don't have the opportunity to have our genes sequenced or can determine what harmful things in the environment our parents might have encountered natally or prenatally, but obviously there was a cause. At the same time, there are going to be gaps in the most careful medical history that a doctor might take of a patient and his extended family. The other even bigger factor in medical blindness is medical specialization. There may be an elephant in the room but the doctor isn't trained to see it. For example, doctors treating craniofacial disorders didn't begin noticing that many of the children they were treating for craniofacial disorders displayed autistic traits and begin publishing on it for 50 years. It wasn't because children with craniofacial disorders didn't haved autism the first 50 years, but because in most cases the children were coming to them before the autism had been diagnosed and doctors trained to deal with the orthopedic aspects of craniofacial disorders had insufficient training in pediatric neurology and psychiatry to pick up on autistic traits. Similarly, doctors treating autism only recently began realizing that a disproportionate number of their patients also displayed birth defects. Few mental health professionals or even regular doctors even know what hemifacial microsomia or Goldenhars is. I have to explan it to them. As for the connection, between hemifacial microsomia (Goldenhars) and autism, I had to connect the dots myself and present the research to my psychiatrist at the time I was seeking my official diagnosis. I had to take his blinders off before he could see there was an elephant in the room. As medical knowledge increases, more is published, and doctors realize that they need to know more outside their own specialty, hopefully the various causes of autism can more frequently be determined and fewer of us will be bewildered by the diagnosis of "idiopathic" autism. Of course, knowing that the autism is associated with something else still may not answer the question of where it come from. I know that I have hemifacial microsomia which is somehow linked to my autism, but I don't know the origin of the neural tube defect that doubtless caused both.