Agenesis of the Corpus Callosum
Today’s post is about another supposedly rare cause of autism called Agenesis of the Corpus Callosum (ACC) . As regular readers of this blog will have noted, extremely rare causes of autism, taken as a group are not so rare after all. In fact it seems that autism is just a very large collection of somewhat rare biological conditions. Of the very few "Autism Dads" I have had a face to face conversation with, one has a child with ACC and another has a son with the even rarer Sotos syndrome. Sotos syndrome is characterized by gigantism, mild ID/MR and often autism. Mutations in the NSD1 gene cause Sotos syndrome ACC is physical malformation of the brain that shows up clearly on MRI scans and potentially shows up on the mother’s regular ultrasound scans. The corpus callosum is a wide, flat bundle of fibers about 10 cm long that connects the left and right sides of the brain. It facilitates communication between the two sides of the brain. Agenes...