Double-tap Autism – perhaps an important variant

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 type of autism that I would have thought must have been noticed many times before.

Double-tap Autism

I am here referring to the more severe types of autism, not high functioning autism (HFA) and definitely not Asperger’s.  Double-tap autism is a variant of what I call “disabling autism”.

The younger generation of gamers, will all know where I got the name from.  So in my case, Ted, aged 14 and very neurotypical, is the inspiration.

There does seem to be a substantial group of children who are diagnosed with autism (very) early, i.e. younger than 36 months and sometimes younger than 24 months.  They then start their intensive ABA program, since they are either North American, affluent, or both.  All goes well and little Charlie, or Billy, is responding well to his therapy and the parents are even beginning to think that autism is not as bad as they had feared.  Then along comes a viral, perhaps flu-like, infection and all of a sudden things go into reverse and Charlie is no longer the little ABA star he once was and he regresses further. Progress thereafter remains painfully slow.

I do keep noticing very similar descriptions in blogs and newspaper reports.  I just read another example in the UK’s Daily Telegraph, with a father describing his son’s double-tap and descent thereafter. Hence this post.

Rapha boss Simon Mottram: my life with autism

Understanding the Underlying Science

While your family doctor likely knows absolutely nothing about autism, there is actually a great deal of scientific knowledge out there in the literature.

By observing clinical changes in the progression of a disease, you really should be able to learn something about it.  But if nobody is making observations, little progress can be made.

Monty, aged 11 with autism, has only ever seen a doctor, with some knowledge of autism, once in his life; indeed his regular paediatrician believes that a child has the “right not to speak” until he is five years old.  For Europe, once in a lifetime would be average and for much of the world, that would be one more than normal.  In parts of North America the situation is very much better, with EEGs, neurologists, genetic testing, diagnosis before 24 months and even free early intensive behavioural intervention on request.

I am certainly not the most qualified to hypothesize as to what is going on in double-tap autism; my son has “single-tap” autism, after all.  Nonetheless I think it would very interesting to understand the mechanism behind the second tap, and then to reverse it.  I do not believe you can necessarily reverse damage caused years ago in utero, but the effects of a viral infection aged 3-4 should be treatable, if you know what to treat.

The term “regressive autism” means very different things to different people, just as the term “autism” has now been devalued by the ever widening of its definition by, not so clever, psychiatrists in the US.   

             

Regressive autism is something different to double-tap autism.  Double-tap autism is like a further regression, after classic autism has already been noticed, diagnosed and become stable.

It is possible that in some cases nobody noticed the first tap and then you would confuse severe regressive autism with double-tap autism.  I think that regressive autism, where initial development was genuinely “normal”, is a different phenomenon to early-onset classic autism. 

I do not believe the brain abnormalities found in post mortem autism studies are necessarily present in regressive autism.  In fact I believe that science has got a distorted view from the post mortem studies, since they are by definition hugely skewed towards severe classic autism, with seizures and indeed MR.  Think where they get the samples from.  

All this does matter; the current scientific belief, based on post-mortem brain samples, is that the autistic brain is damaged prior to birth.  As a result any kind of therapy is based on optimizing the function of a fundamentally damaged brain and hoping to take advantage of the plasticity of the young brain.

If the brain has developed normally to the age of 3 years old, it has already substantially completed its development.  If thereafter things go wrong, it cannot be because of the kind of malformations found in the post-mortem samples.  So there is a much higher chance of being able to reverse those changes.  Just as in PANDAS and PANS, a perfectly developed brain can, in certain circumstances, produce odd autistic-like behaviours.  PANDAS and PANS are treatable and autistic-like behaviours can be reversed.

So serious thought should be given to treating people with double-tap autism.  It should be treatable and it should be possible to revert to the state the child was in, prior to the second tap.

Possible Treatment

I would think that the immunomodulatory therapy that I have been talking about in recent posts would be a good place to start.  Somebody like Dr Swedo, the PANDAS lady, would be needed to do some experiments.  Therapies for PANDAS already include:-

·        Steroids

·        IVIG

·       Plasmapheresis

and, if all that is claimed about it was really true:-

·        Gc-MAF (Gc protein-derived macrophage activating factor)

Another possibility is that the virus is just a trigger for a genetic or epigenetic process.  If it is an inherited genetic anomaly, it was always present, like the gene that often leads to breast cancer, it is like a ticking time bomb; it may or may not explode in your lifetime.  If it is epigenetic then the process is like a bookmark, rather than a genetic defect, that turns on something that should be off, or vice versa.  Regardless of genetic or epigenetic, once you know what gene is affected, you may be able to figure out a way to counter it.  Just like in my PolyPill research, I read that it was already known in autism there may be a defect in the CACNA1C gene. The CACNA1C gene produces the calcium channel Cav1.2.  So I just needed to look at this Cav1.2 channel and figure out how to modify its behavior, just in case it was linked to my son’s particular type of autism.  This only took a few hours to figure out; it took longer to test it and even longer to write about it.

It is quite likely that many of the people with double-tap autism have the same underlying dysfunctions, and so what helps one could help many.  This was also the case with PANDAS/PANS.

I hope somebody, vaguely scientific, eventually does try and help people with this kind of autism.  It should be less difficult than classic autism, which turns out to be treatable after all.  But don’t hold your breath and, as I tell my older son, if a job is worth doing, best do it yourself.  That is unless you have Dr Swedo on your case.