PLT Test Blog

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...

  Peter the wild boy, with Pitt Hopkins Syndrome I recently returned from a 25 year class reunion; of the 200 or so class members about 120 turned up. Of the 200 we know that at least 5 have a son with autism and at least one has a nephew with autism.  So I had my first ever “autism lunch” discussing all those tricky issues we are left to deal with. What was immediately apparent was how different each child’s “autism” was and that none of them were the autism-lite variants that are now being so widely diagnosed in older children. or even adults .  Of the six, two are non-verbal, one is institutionalized, yet one talks a lot.  Three sets of parents are big ABA fans and one child did not respond to ABA. You may be wondering about that high incidence of autism.  This was not a gathering of science boffins or mathematicians; this was at a business school.  One thing is obvious, you can correlate some autism incidence with educational level.  You can conne...