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...

Several readers have asked me about the current status of Bumetanide as a treatment for autism. The process in Europe is controlled by EMA (European Medicines Agency), the equivalent of the FDA in the United States.   Bumetanide affects the function of the GABA A  receptor.  If you click on the site index , you can refer to Bumetanide and read the research and my own son's very positive experience of using this drug since December 2012.      Most readers in the UK and USA have difficulty getting their doctor to prescribe bumetanide, since autism is currently an off-label use.  Many readers elsewhere have been able to access this drug and are seeing its positive impact. Dr Ben-Ari, whose research has been outlined in those earlier posts, has kindly provided this update:- Treating autism with a diuretic: a long procedure   We have started some time ago testing the possibility of using a diuretic to treat Autism Spectrum Disorders (ASD) relying on ou...

Today’s post will hopefully not get too complicated. As has been mentioned in this blog, and also at leading institutions like MIT, it does seem possible to fine-tune certain receptors in the brain that have become dysfunctional in autism.  In the case of MIT they were “tuning” a receptor called mGluR5, which they suggested was either hypo or hyper, in other words too much or too little, depending on what the underlying disease variant was. This was done with something called an allosteric modulator, either a positive one called PAM, or a negative one called NAM. They found that a particular glumate receptor, called mGluR5 , was dysfunction in many autism-like conditions.  But the nature of the dysfunction varied, so different people would require different treatments to return the receptor performance back to normal (top dead center).   So it really becomes like tuning your car engine.  As I have progressed in my review of the literature it becomes clear that n...

This post will get complicated, since it will look at many aspects of the GABA A receptor, rather than just a small fraction that usually appear in the individual pieces of the scientific literature.   It was prompted by comments I have received from regular readers, regarding Bumetanide, Clonazepam, epilepsy and whether there might be alternatives with the same effect.   So it is really intended to answer some complex issues.   There are some new interesting facts/observations that may be of wider interest, just skip the parts that too involved. Regarding today’s picture, most readers of this blog are female and by the way, while the US is the most common location by far,  a surprisingly high number of page views come from France, Hong Kong, South Africa and Poland. GABA We have seen that GABA is one of the brain's most important neurotransmitters and we know that various forms of GABA dysfunction are associated with autism, epilepsy and indeed schizophrenia. One re...