Guest guest Posted December 18, 2012 Report Share Posted December 18, 2012 It appears my daughter might have it, which might explain her really weird swallowing action.If you found out your child had pitt hopkins syndrome (Pitt-Hopkins syndrome (PTHS) is a rare autism spectrum disorder characterized by intellectual disability and hyperventilation.) It is caused by the loss of TCF4, a gene that is located on human chromosome 18 and encodes a transcription factor.What would you all do if you were me????I think I might want to leave that question open-ended. I feel strangely relieved to finally have some true indication of why my daughter always seems more disabled and more autistic....Any thoughts are deeply appreciated..... Quote Link to comment Share on other sites More sharing options...
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