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 is about a drug originally proposed by Wayne State University in the US, but so far approved and widely used mostly in Asia.   China is the big producer/user and Italy is the outlier where it is also used.   Therapeutic Developed in United States Benefits Many in Asia Since Wayne State University gastroenterologist Milton Mutchnick, M.D., first proposed using the hormone-like peptide thymosin alpha 1 to combat Hepatitis B in the mid-1980s, the drug has seen both outstanding success and somber letdown. Overseas, thymosin has become an important tool for fighting Hepatitis B, cancers and infections. Within the United States, its promise remains in doubt decades later.   Today we consider repurposing a naturally occurring peptide from the thymus to restore balance/homeostasis to the immune system in people with autism. It has been well documented in the research (for example by Paul Ashwood at the MIND Institute) that the immune system can be dysfun...

  A couple of weeks ago I took Monty, aged 18 with ASD, for his Covid booster injection. Since I was accompanying an adult and filling in his paperwork, I thought I should explain why I was needed there. I just said he has autism and prefers to speak English. Where we live, autism still means severe autism and I for one would be very wary about trying to stick a needle in an unknown person with that diagnosis. Monty is no problem at all at the doctor or dentist, he has figured all this out. Moves are afoot to reintroduce the term “profound autism” to describe older children and adults who are severely disabled.   The Lancet Commission on the future of care and clinical research in autism (free to access full paper) Awareness of autism has grown monumentally over the past 20 years. Yet, this increased awareness has not been accompanied by improvements in services to support autistic individuals and their families. Many fundamental questions remain about the care of people...