PLT Test Blog

You probably know what Down Syndrome looks like, but you probably never expected the above life expectancy data.  It used to be the case that kids with this disorder were institutionalized after birth. Source:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445685/figure/F2/ In an earlier post I suggested that some types of Mental Retardation (MR)/Intellectual Disability (ID) should be treatable.  I was thinking about RASopathies, dendritic spine morphology and the GABA E/I (Excitatory/Inhibitory) imbalance found in autism.  I even suggested to the autism researchers working on the bumetanide approval process that the simplest measure of effectiveness would be to measure IQ before and after treatment. Recent research has shown that in Down Syndrome GABA is also excitatory.  GABA should be inhibitory, otherwise the brain cannot function properly and there will be a large risk of seizures.  In many people with autism GABA is excitatory; this reduces their cogn...

As another school year comes to an end it was time for Monty, aged 11 with ASD,’s end of year grades and the parent teacher meeting.  Monty attends a small mainstream international school with his own assistant. This year is particularly interesting because we have the same class teacher, Miss B, this year that we had three years ago (prior to starting to develop Monty’s autism Polypill ).  So if anyone can judge the impact, it should be her. In the English system Year 4, is where you find 8-9 year old typical kids and equates to 3 rd grade in the US system.  Monty just finished Year 4. After completing Year 3 first time round with Miss B three years ago, with a traumatic several months of aggression and cognitive and behavioral regression, we put Monty to start Year 2 again.  At the end of the first term in Year 2 (second time around) he started Bumetanide. Year 1 Year 2 Year 3            Miss B Year 2  ...

  Not cheap at about $1,000 for just 140mg Life extension may come as a surprise, but it is interesting because it is well studied and, in mice at least, easy to measure.  Most research into mTOR relates to cancer, but this is a very complex condition. With various feedback loops it means that sometimes the actual effect is the opposite of what was predicted.  For example, a substance that can help prevent cancer can actually become harmful later and promote its growth. Direct inhibition of mTOR with Everolimus and similar drugs (variants/analogs of Rapamycin , all called Rapalogs) has not been as successful as hoped in cancer research.  Trials of direct inhibition of mTOR will shortly start in one rare single gene type of autism ( TSC ).  The drugs are so expensive that many providers do not want to pay for them. As you will see mTOR is just one process in a cloud of interrelated processes.   Almost everything has a role/effect:- growth factors, cytokines,...