PLT Test Blog

When time is of the essence All kinds of dysfunctions may appear in autistic brains, which in itself make it a highly complex condition. There is also the when and where aspects of these dysfunctions, which often gets overlooked, or lost in oversimplification. This then has to fit into the concept of critical periods, that I introduced in an earlier post.  Critical Periods in the Biology of Autism – Not to miss the Boat Critical periods are times during the brain’s development when it is particularly vulnerable to any disturbance, for example an excitatory/inhibitory imbalance. This then leads to another related concept which is that of sensitive periods; these are periods when the person should be responsive to particular therapy. Sensitive periods are very important to be understood by those planning clinical trials, because a therapy may indeed be effective only when given within a specific time window. During this time the person is sensitive to the therapy, but they will not ...

Some clever autism researchers pin their hopes on genetics, while some equally clever ones are not convinced. One big problem is that genetic testing is still not very rigorous, it is fine if you know what you are looking for, like a specific single gene defect, but if it is a case of find any possible defect in any of the 700+ autism genes it can be hopeless. Most of the single gene types of autism can be diagnosed based on known physical differences and then that specific gene can be analyzed to confirm the diagnosis. Today’s post includes some recent examples from the research, and they highlight what is often lacking - some common sense. There are numerous known single gene conditions that lead to a cascade of dysfunctions that can result in behaviors people associate with autism.  However in most of these single gene conditions, like Fragile X or Pitt-Hopkins, there is a wide spectrum, from mildly affected to severely affected. There are various different ways in which a gen...

Today’s post was not my idea at all, it was the author of one of the papers who has drawn my attention to the subject. Genetic studies are complicated and are not the sort of thing I would have chosen to read, let alone write about, before starting this blog.  The optimal time to initiate pharmacological  intervention in Autism? However, much of the complex subject matter has now already been covered, step by step, in earlier posts. Regular readers should not feel put off. It is perhaps easier to think about ion channel dysfunctions, or channelopathies.  Some of the key genetic dysfunctions produce these channelopathies.  There are many posts in this blog about channelopathies, partly because many therapies already exist to treat them. Then we have the complex signaling pathways which are often the subject of cancer research, but we have seen that certain ones like RAS and PTEN are key to conditions like some autism and some MR/ID. So it is not a big leap therefore t...