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 was triggered by an intriguing comment left on this blog. As we have seen in previous posts, the single gene causes of “autism” like fragile X and Rett syndrome are themselves on a spectrum, with some people worse affected than others.  Boys almost always being more severely affected than girls. It also appears possible that a partial dysfunction of this same gene/protein may lead to a much milder version of these same syndromes. Rett syndrome is well studied and as we saw in the earlier post about growth factors in autism, one key feature is an almost complete lack of Nerve Growth Factor (NGF).  Reduced levels of NGF are associated with several diseases and also the aging process.  In many cases of Mild Cognitive Impairment (MCI), as seen in dementia in older people, reduced NGF can be the root problem. Rett Syndrome Rett syndrome usually gets grouped as part of autism. Almost all people with Rett syndrome are female; here is why.   Rett syndrome ...