Guest guest Posted February 1, 2011 Report Share Posted February 1, 2011 Hi After 27 years, a " newer " chromosome test (array CGH) finally identified our son's cause of autism. He has " Phelan Mcdermid Syndrome " (Check out 22q13.org). Even though our son had NONE of the physical characteristics of this disorder (i.e. deformed ears, droopy eyelids), he has most of the autistic characteristics of this disorder. Have any of you ever heard of this disorder? I'm VERY supportive of DAN doctors, but I'm surprised that no DAN doctor has ever suggested more chromosome testing for our son. I still firmly believe that environmental factors are a significant part of our son's challenges, but we think defining the " genetic predisposition " concerning his autism is crucial too. If anyone on this list has more info on this disorder, we'd love to hear from them. We have so many new questions now! For example...In the various Phelan Mcdermid literature it says that no special diet will help these kids and yet our son improved greatly in all areas when we started the GFCF diet back when he was 4 years old. (And he still does better even now on the GFCF diet). Why would the diet help this chromosome deletion? Dorothy Quote Link to comment Share on other sites More sharing options...
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