PLT Test Blog

  Genes make proteins and you need the right amount in the right place at the right time. I should start this post by confessing to not having carried out genetic testing on Monty, now aged 18 with autism.   When I did mention this to one autism doctor at a conference, I was surprised by her reply:- “ You did not need to.  Now there’s no point doing it”. I got lucky and treated at least some of Monty’s Differentially Expressed Genes (DEGs) by approaching the problem from a different direction. People do often ask me about what diagnostic tests to run and in particular about genetic testing.   In general, people have far too high expectations regarding such tests and assume that there will be definitive answers, leading to effective therapeutic interventions. I do include an interesting example today where parent power is leading a drive towards an effective therapeutic intervention in one single gene type of autism.   The approach has been to start with the s...

Today’s post looks deeper into the biology of those people who respond to the drug bumetanide, which means a large sub-group of those with autism, likely those with Down Syndrome and likely some with schizophrenia. It is a rather narrow area of science, but other than bumetanide treatment, there appears to be no research interest in further translating science into therapy.     So it looks like this blog is the only place to develop such ideas. I did not expect this post would lead to a practical intervention, but perhaps it does. As you will discover, the goal would be to restore a hormone called estradiol to its natural higher level, perhaps by increasing an enzyme called aromatase, which appears to be commonly downregulated in autism.   This should increase expression of neuroligin 2, which should increase expression of the ion transporter KCC2; this will lower intracellular chloride and boost cognition. It seems that those people using Atorvastatin may have alrea...