PLT Test Blog

"Gene" by Courtesy: National Human Genome Research As we have seen so far in this blog, a great deal is already known about various causes of autism.  It is claimed that only 5-8% of cases are caused by the mutation of a single gene, as in Fragile-X and Retts syndrome . When I was researching the new drug Arbaclofen, that was being trialed as a therapy for Fragile-X, and autism in general, I was surprised to learn that within Fragile-X there is a wide spectrum.  Some people are very severely affected, both mentally and physically and others are quite mildly affected. It turns out the same spectrum effect applies to other known genetic causes of autism, including Neurofibromatosis ,  Tuberous Sclerosis Complex ( TSC) and Timothy Syndrome . We also have the case of Anderson- Tawil syndrome , which was drawn to my attention by a reader of this blog.  This, supposedly extremely rare, syndrome appears to run in families with a high incidence of autism.  Some of th...

Some readers of this blog are commenting how hard it is to obtain prescription only drugs for “off-label” use in autism. None of the drugs mentioned in this blog are actually approved for use in autism.  There is some science showing that they might be effective, but there is no mention of autism on the “label” approved by the regulator. This means that your doctor will not know how to prescribe it and your insurer will not want to pay for it. So how do I access these drugs? This is a frequent question.  In theory you do not need to wait for the drug to be approved, you can apply to the national drug agency in your home country for permission to use a drug based on the experimental use that showed it might be effective. Better still, in many countries like the USA, doctors are not banned from prescribing “off-label” drugs.  If the doctor follows the new research, he is permitted to apply it on his own patients.  If he does it recklessly, he might eventually lose his...

One of the post popular subjects on this blog is the use of NAC (N-acetyl cysteine) for autism. There are numerous earlier posts explaining how and why it works. Just look up NAC in the index by subject ; there are 19 posts, for those with plenty of time. (the labels function just gives the recent posts) NAC was shown in a clinical trial at Stanford to be an effective treatment for autism.  You might have expected that this would be quickly followed by further research, but since NAC is widely available as a cheap supplement, there is not much financial incentive for further research.  Without that research, mainstream doctors will never prescribe it. Beginner's guide to NAC  Highly respected researchers have shown that in many types of autism, oxidative stress is present and considered that NAC might be an effective therapy. In the past, some DAN-type doctors have used NAC, but the Stanford trial was the first mainstream trial for autism. For oxidative stress in asthma ...

In spite of the recent drive to improve autism awareness, mainly in North America, very much more could be done to understand the condition itself.    Rather than just giving it different names (now ASC rather than ASD, for example) and broadening the “catchment area” of the autism diagnosis, would it not be wise to better study the “disease” itself? In most countries, people with autism are not treated by any doctor, so a huge pool of possible information is lost forever.  We just have anecdotal evidence, and much of that can be emotionally distorted by care givers. Whether I want to or not, I just can’t keep noticing things in the media that make me take note.  I do get lots of people writing to me, sending me links to articles and I do admit to looking at some other people’s blogs. The clever researchers studying autism, and the handful of clinicians writing about it, do not seem to notice the same things as me.  So I will go a little further and define a new...

Regular readers of this post will know that I believe that Immunomodulatory therapy has great promise for treating various subtypes of autism.   In effect, I want to bring the over-activated immune system back under control.   Two methods that appeal are:- ·         The steroid, Prednisone, because it is cheap and though it has side effects, they are very well understood. It also has been shown to be effective in autism and related conditions like PANDAS and Landau - Kleffner syndrome (LKS) ·         Parasitic worms appeal because they are known to have beneficial effect in many auto-immune conditions ranging from arthritis to autism, but nobody really understood why.   Until now. This post is about the worms and recent research which has established that it is likely that they work by blocking the potassium channel Kv1.3. You will have noted that this blog keeps going on about ion channel dysfunction...

Regular readers will know that every summer Monty, aged 11 with ASD, has a “flare-up” in his autism.  Behaviour gets very much worse and now we notice that also cognitive function is impaired. In my last post I repeated how the aggression and SIB (self-injurious behaviour) was very effectively suppressed by Verapamil and I was pondering how to solve the, now visible, cognitive decline. I suppose some readers may be thinking all this sounds fanciful.  Once a child with autism is verbal and has got as far as basic maths, it is very easy to measure cognitive function.  For years I have asked Monty what he had for lunch at school that day, to check how “switched-on” he was.  Now, I just need to ask him something like “what is five times five”. Ted, Monty’s older brother, has also noticed these changes and has recently delighted in showing how his brother does not know six times six, or even twelve plus five.  He would ask him questions when we are all in the car, an...