PLT Test Blog

We were recently at the seaside in Greece, where Monty was enjoying swimming in the sea. He is now a very competent swimmer and behaves in the water just like any other confident swimmer. Together with Mum he actually rescued a Russian swimmer in distress.  Monty does not get crazy ideas to swim to islands in the distance, or anything like that. Not so far, at least.  Water is behind a shocking number of wanderings and deaths. In the North American media, you can see that on a very regular basis children with autism and/or ID/MR (Intellectual Disability/Mental Retardation) wander off and get lost. Very often they are found in or beside water. In Europe you hear much less frequently about children wandering. A high-profile case recently was an Irish teenage girl with MR/ID who disappeared while on holiday at a tiny jungle resort in Malaysia.  She left behind an open ground floor window and was found 10 days later beside a stream in a ravine a mile away.  She had holo...

The world’s longest glass bridge is in China. Today’s post is about Glass Syndrome / SATB2-associated syndrome, it occurs when something goes wrong with a gene called SATB2; there are several variants because different mutations in this gene are possible. Glass Syndrome / SATB2-associated syndrome is another of those single gene types of autism, so you can think of SATB2 as another autism gene.   As we will see in today’s post SATB2 is involved in much more than autism and is very relevant to osteoporosis and some types of cancer. While autism caused by SATB2 is very rare, diseases in old age quite often involve the SATB2 gene being either over expressed or under expressed. As a result there is much more research on SATB2 than I expected. The current research into Glass Syndrome / SATB2-associated syndrome is mainly collecting data on those affected, rather than investigating therapies. There are some links later in this post, for those who are interested. The research into SA...

Source: Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2 In the early days of this blog, one medical reader told me that in cases of autism an MRI scan of the brain should appear normal. This also fits with the idea that once you have a biological diagnosis, you no longer have a case of “autism”. It is only Autism, when it is of unknown origin.   People who have a single gene type of autism actually can have significant variations in brain structure that appear clearly on an MRI.   This was the subject of a recent study and the source of the MRI in this post. MRI reveals striking brain differences in people with genetic autism Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2 Many people with autism have abnormalities at a specific site on the 16th chromosome known as 16p11.2. Deletion or duplication of a small piece of chromosome at this site is one o...

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...