Thursday, April 9, 2009

Keep Looking Dan

Dan O, the big cheese editor at AoA wrote a series of articles where he wondered where the Autistic Amish were. He looked everywhere, and could not find them. Of course, he missed the Clinic For Special Children....

Pediatr Neurol. 2009 Apr;40(4):310-3.
Gene associated with seizures, autism, and hepatomegaly in an amish girl.
Jackman C, Horn ND, Molleston JP, Sokol DK.

Pediatrics section, Department of Neurology, Indiana University School ofMedicine, Indianapolis, Indiana.

A genetic defect causing autism and epilepsy involving the contactin associatedprotein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amishchildren. These children were found to have focal seizures and autisticregression. Surgical biopsy of the anterior temporal lobe of two such childrenrevealed cortical dysplasia and a single nucleotide polymorphismmutation of this gene. The present case is that of a related but geographically distant probandwith a similar phenotype but a single-base-pair deletion in the CNTNAP2 gene.This patient exhibited the additional features of periventricular leukomalaciaand hepatomegaly.

I know that the ignorant at AoA will dismiss this as not being true, vaccine caused, autism, but, clearly Dan missed these people, too.

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