PLT Test Blog

Once anyone starts to make claims that some autism is treatable, people respond in different ways.  Those applying what has always been taught in medical school, that autism is untreatable,  will either think you are making it all up, or worse, you are some evil person taking advantage of parents in emotional distress. The very few people who read the research about things like metabolic errors and intracellular signaling may well take a different view. Also the oncology/cancer researchers who themselves think about sub-types of disease that are induced by specific signaling pathways (like RAS-induced cancers for example), may well see the sense in experimentation like that in this blog. Medicine does indeed say that autism, Down Syndrome and ID/MR are untreatable; however current science does not support this.  Your local doctor applies medicine; he is likely totally out of his depth when it comes to where science is in 2016. My posts are just my take on the science, I a...

    This blog, as you will have noticed, does rather meander through science of autism.  As a result there are some gaps and unanswered questions. The blog talks a lot about the neurotransmitter GABA and the excitatory/inhibitory imbalance.  We have ended up with some therapies based on this that do seem to help many people. The opposing (excitatory) neurotransmitter is glutamate which affects the NMDA, AMP and mGlu receptors. It appears that in autism there is an unusually high level of glutamate, but another issue looks likely to be at specific receptors, for example mGluR5 Two routes to autism phenotypes via mGluR5 This does get very complicated and lacks any immediate therapies.  One very interesting insight was that you can repurpose the existing cheap generic GABA B drug Baclofen to treat NMDAR-hypofunction.  This seems to work really well at low doses with many people with Asperger’s.  People with more severe autism do not seem to respond to lo...

I did write a post a while back highlighting an excellent on line resource that gives clinicians data on 81 treatable forms of Intellectual Disability, ID (formerly known as mental retardation, MR). Treatable ID/MR There is a big overlap between the causes of some ID and causes of some autism. If you have a case of autism, it is worth reviewing the 81 treatable forms of ID, just in case you have one, even a mild version causing minimal ID.  Partial dysfunctions certainly are possible, as we saw with biotin.  It is also very interesting to look through the therapies used and see how they overlap with those used by people in their n=1 case of autism. For example the therapy for SLOS (Smith–Lemli–Opitz syndrome) which is related to very low cholesterol is to give cholesterol and Simvastatin.  Simvastatin is widely used in older people to LOWER cholesterol.  Statins have several other known modes of action. We use Atorvastatin. Note all the vitamin related syndromes etc....