Tuesday, 8 September 2015

Time for a new generation of Autism “Experts”?

Farewell to Pingu

I usually succeed in keeping to the science in this blog and refrain from sharing my other wider opinions.  Today I slipped up.

Rather like James Simons, founder of the Simons Foundation, I do not have a high opinion of many supposed experts, particularly when it comes to autism.

Autism is often a backwater, where “academics” can still write the occasional quasi-scientific paper on some touchy-feely aspect that they consider important and make a name for themselves.  On the back of this, they can advocate for their perception of autism and often encourage ever-wider diagnosis in people who are less and less severely affected.

So far this is fine; we are all entitled to have our own opinions, so no comments on Autism Speaks, Autism One, or the various National Autism Societies. They all have the best intentions.

I should highlight the Simons Foundation and the UC Davis MIND Institute as being excellent scientific sources of objective information.

The only reason for today’s post is the comment made by someone who might be seen as the United Kingdom’s top autism expert, Professor Simon Baron-Cohen, Director of Cambridge University's Autism Research Centre. With such a tittle, he should set a high standard.

"We're not looking for a cure  … its part of their genetic and neurological make up," said Professor Simon Baron-Cohen, director of the Autism Research Centre at Cambridge University and vice-president of the National Autistic Society.

And …

“Children with Autism wait on average about three and a half years to get their diagnosis," Mr Baron-Cohen said.

It may come as a surprise to the Professor, but Parkinson’s disease is also a complex condition with a complex genetic element.  

Numerous very bright researchers are working to defeat Parkinson’s disease and, I am informed, that they are quite likely to achieve this end.

They set out to find a cure; they may indeed fall short and just find an effective therapy.

Imagine athletes starting a race, they all aim for gold.  By aiming for first place you might just come 5th, but if you did not train for gold you would come last.

As for the Professor’s comment that people in the UK wait over three years for an autism diagnosis, this is not strictly true and is scaremongering.  People with what used to be autism, i.e. classic autism, Kanner’s autism or autistic disorder go to the front of the assessment queue and get diagnosed for free within a few months.  Some parents keep going back for a second, third, fourth, fifth opinion until they get the result they want; this takes years. 

There is of course nothing to stop someone in the UK paying themselves for the assessment and so waiting a matter of weeks; after all they would happily pay to have someone fix their washing machine.

The UK consultant neurodevelopmental pediatrician, who diagnosed my son, told us at the time that a multidisciplinary assessment is generally not needed and that she can see almost immediately if a 3-4 year old has autism.  With what I now know, I would have to agree with her 100%; to the trained eye it is obvious.  

There are numerous milder dysfunctions that can affect children and there is an ever growing raft of observational diagnoses.  These diagnoses are all highly subjective and some really could be simplified to “I DON’T KNOW”  (PDD NOS = Pervasive Developmental Disorder Not Otherwise Specified).  I rather liked IED = Intermittent Explosive Disorder.

In many cases the troubling symptom in these milder dysfunctions is “just” anxiety.  If the anxiety is severe enough to need treatment, why not try one of the safe (i.e. not Prozac) drugs? There are numerous existing treatments (Propranolol for example) for children with anxiety and some interesting new ones (Baclofen).

Then we would be left with:-

Autism, a disabling developmental disorder diagnosed in early childhood.  Following its diagnoses, based on simple observational/behavioral criteria, a biological diagnosis of the underlying dysfunctions should be sought.  A small minority of these dysfunctions are substantially curable.  Some dysfunctions in the majority of the remaining children are, to a meaningful extent, treatable today.

Having treated what is treatable, use behavioral therapy.

Unable to contribute to finding cures/therapies for the underlying biological dysfunctions, the Professor and many like him have sought to widen the scope of “autism” and diagnose ever more people.  The latest idea being the Broad(er) Autism Phenotype (BAP), where you diagnose almost anyone as a teeny tiny bit autistic.

Now everyone from Nikola Tesla to Fieldmarshal Montgomery is supposed to have been autistic.  Both did rather well for themselves for someone with a disability.

This “mild” autism is extremely subjective, which is why so many assessors will not diagnose it, and so yes, if you keep going for several years you may find someone to tell you that you have “autism”.  But then what?  There are no cures or therapies, apparently.  There are these supposed “services” which are available on diagnosis, depending where you live.

There are indeed valuable services for people with severe autism, like speech therapy, occupational therapy and behavioral therapy.  These are not going to help much with mild autism.

The mother of the child in the above BBC interview said her child is much better now because “he is on the right (anxiety) medication” and is in a school with small classes.  He had previously been given all sorts of diagnoses, Tourette syndrome, OCD etc. in multiple earlier assessments.

Why not take an anxiety medication if you had OCD, or Tourette’s?  Just google it.  Was the doctor only willing to prescribe an anxiety drug with an autism diagnosis?

The key was treating the anxiety and being in a small class at school.  Is that really “autism”?

Many children who are different, in one way or the other, struggle in large classes and many of them also get bullied, sometimes even by the teacher.  By all means call it Asperger’s, but please do not call it autism.

Yes, the Professor would say that autism is a spectrum.  This really means he has no clue what is the underlying biological dysfunction, so let’s call it all “autism” and be done with it.  “Autism” is in fact just a name for almost anything that goes mildly or severely wrong neurologically, in the first few years of life. 

Once you are a teenager, if a new unknown dysfunction occurs, it gets new labels: - schizophrenia, bipolar etc.  These are also just observational diagnoses and within them are numerous different genetic and environment causes, some of which are treatable, if you care to look.

Other Experts

It is not just the Professor; you will come across numerous “local experts” perpetuating misunderstandings regards autism.  Like the dedicated Principal of the autism special school explaining that some of her kids have such terrible anxiety that their stomachs are tied in knots and they have severe GI problems.  Anxiety certainly does not help, but we actually know much about reflux/GERD in autism and the more serious IBS/IBD/ulcerative colitis.  We even know the mechanism that may explain why reflux/GERD is comorbid with autism, it is called mGluR5.

On the subject of ulcerative colitis and autism, just because a certain Dr Wakefield highlighted this link, it is widely assumed to be a falsehood.  The literature is strewn with links between ASD and ulcerative colitis.  I have an anecdote of my own.  One of the few people I hear about with Asperger’s, where we live, was first diagnosed with ulcerative colitis, then followed the Asperger’s diagnosis, and now he needs part of his intestines removed.   This could have been treated years earlier and then there would be no need for surgery now and years of trouble at school could have been avoided.

Clever Scientists

What is needed are hard-core clever scientists, not soft-hearted touchy feely Psychologists. (Apologies to those forward looking Psychologists amongst you, who keep updated by reading the literature)

I could not agree more with James Simons and his Foundation, who choose to fund Nobel Laureates and future Nobel Laureates.  Hopefully, they do actually aim to find cures.  It may take a hundred years, but along the way there will be numerous therapies to improve outcomes in the meantime.

Some of these therapies for specific causes of “autism” already exist.  They are in the literature, but I guess Baron-Cohen does not read it.

Perhaps a little shocking is that even though the Professor is not a medical doctor and so has no medical experience of treating people with autism, he was the 2012 Chair of the National Institute for Health and Care Excellence (NICE) Guideline Development Group for adults with autism.  This is advice that is given to doctors in the UK on how to treat autism.  Not surprisingly, NICE guidelines to doctors in the UK actually tell them not to bother, core autism is not medically treatable.   

In many areas of health, like asthma, the NICE treatment guidelines are excellent and a great resource for clinicians and patients.

How can you attend the top universities, albeit not in medicine, work 25 years in  the field of autism research, travel to all those nice conferences, even edit an autism journal and not have realized/discovered that it is treatable? It is almost criminally negligent.  If cases of autism are treatable, they are potentially preventable and, if caught early enough, potentially reversible.   

If you want a warm feeling, don’t campaign for “Autism Awareness” or wider “Autism Diagnosis”, campaign for free detailed metabolic testing, genetic testing and MRIs (with MR spectroscopy) for all people diagnosed under five with autism (at their first assessment!).

By the way, I have no doubt that many of the highly intelligent researchers who get funding from the Simons Foundation would also have struggled in their childhood had they been in large classes, in non-selective, State-funded, primary schools.  

A wake up call

It is not just me claiming that most types of autism are, to varying degrees, treatable today.

There are a growing number of readers of this blog who have found the same. Most are regular parents, who current “Experts” would totally ignore, but some are actually doctors, medical researchers, and even Professors of Medicine.

If an amateur, with a blog, can figure out usable therapies from the literature, we really do need some new Experts, and then NICE will need to rewrite their guidelines.


  1. I may be mistaken,but I am pretty sure I have never read your blog before.I seem to be mentioned in a comment in your 18 December 2014 post about activated microglia.I am mentioned as the adult diagnosed with Cerebral Folate Deficiency Syndrome who has successfully treated their autism with leucovorin.It can't be anybody else.I am unfortunately unique.Perhaps you know of me from all the comments I have made on Paul Whiteley's blog,that are up on Google+.

    You may know I was first diagnosed with autism in 1971,but have only been diagnosed with all of the other stuff in the last few years.This post could almost be seen as a followup to your post about autism history from 25 August of this year.As you stated in this earlier blog post,there are very few older autistics alive today,that were diagnosed before the DSM-IV.Certainly not enough to counter the lies,ignorance and misinformation spread by the likes of Baron-Cohen,and others in the neurodiversity movement.Those of us who are still alive today,can thank parents who cared enough about us to go against the conventional wisdom of the day to institutionalize us.Which,as you point out in your 25 August blog post,was a death sentence.These parents are now getting old and dying off,their middle aged children finally coming into the light,after many years,as I did in 2012.I lived with my mother up until her death.There are those in both the neurodiversity and the anti vaccine movements,who would like to push them/us back in the darkness,and pretend we do not exist.I was lucky in that had been treating my cerebral folate deficiency a few years,by the time my mother died.The fact that so many autistics who were born 30+ years ago,and were seriously disabled,are dead,can also account for the fact that all medical care for,and research about autism has been geared towards children.

    As you may know from reading my comments at other blogs,I have many serious medical problems,and have had many regressions,starting at the age of six months.I very likely have mitochondrial disease,and am waiting on genetic test results.

    So where do we go from here? I see two,maybe three,main areas that need to be addressed.First there needs to be more of a public outcry from clinicians and researchers against the lies and propaganda of the neurodiversity movement.Proponents of neurodiversity need to be publicly shamed,and forced to account for their claims,the way anti vaccine activists have been.Both groups need to go the way of the refrigerator mother.All forms of autism need to be framed as serious congenital disorders,and nothing more.

    Secondly,I think there is too much worthless research in autism that needs to be done away with.Research unrelated to medical conditions,learning.or day to day functioning.Baron-Cohen has done his fair share of such research.Autism needs to be completely severed from psychology and psychiatry,and be seen as a neurological medical condition.

    Autism research is too disorganized and there are not enough standards and guidelines for research.We desperately need this.The establishment of an autism institute at NIH,like Dr. Frye has called for,would go a long way in fixing this.But in the US,maybe in the UK as well,funding for research,on an institutional level,is in serious trouble.

    Andrew Wakefield caused so much damage to autism research.Largely because of Wakefield,research on GI disease in autism has been seriously lacking.So many other medical conditions in autism,cluster headaches for one,have never really been researched at all.

    To answer your question,I believe neurodiversity advocates like Baron-Cohen,and others,are willfully ignorant.Their stubborn adherence to this toxic belief blinds them from seeing autism any other way.

    1. Thanks for the comment Roger. Yes, I read about your case on Paul's blog.

      We live in a strange world. The best you can do is put out on the web a detailed explanation of what worked for you, and explain as much as possible about your sub-type of autism. Then whoever really wants to research what might help themselves, or their child, can potentially find it.

      If you want to write a lay person's guide Cerebral Folate Deficiency Syndrome in Autism, how to identify it and treat it, I would happily post it (unedited) on my blog. In other words, a guest post from Roger.

  2. Obviously very young children typical or not should not be given the agency to make up their own mind when it comes to interacting with the world in ways that can get them hurt. As a typical child gets older, you gradually let them make decisions for themselves and transition as a parent from protector to supporter in the sense you do your best to support the decisions of your children and help them out as they lead the way, rather than make all their decisions for them and protect them from the many dangers in the world that they cannot handle on their own.

    With (classic) autism, few ever develop the cognitive capacity in the affected areas of communication, socialization, and being able to focus on many things at once (i.e. lack of restricted interests), to make appropriate decisions for themselves that allow them the agency to function in society in an independent or at least a semi-independent manner, especially with regards to being able to form lasting friendships and romantic relationships that allow them to have a family if they so choose to.

    If you are able to navigate the world well enough that you can make your own independent decisions about your life without being a danger to yourself or others (with respect to autism's core symptoms), and you are eventually capable of having typical human relationships with other people, then you don't have autism. You may have Asperger's or one of the many alphabet soup disorders that may present challenges in your life, but you don't have autism.

    Since my first of three out of four children were diagnosed with autism, I have probably read well over several thousand papers now ranging from biology to neuroscience and many other broad topics that interrelate with autism as a medical condition. Rather than focusing on a narrow approach in understanding autism, I have rather chosen to expand my focus, especially since it is almost criminal how many research dollars go to geriatric disorders, relative to the pittance autism research gets, nevertheless, there is a lot of overlap between many of them and autism, not to mention cancer research, that is assuming you believe autism is a medical condition. I am obviously not the only one in this boat, however, "neurodiversity" promotion encourages regular people to just say "NOTHING MORE TO SEE HERE FOLKS, TIME TO MOVE ON WITH YOUR LIFE", which only discourages more public hard science research into treating the condition. In fact, my best friend of 20 years came across some press release about the autism minibrains in a petri dish brouhaha and then had the audacity to say "it is not to late to write it all off and get on with your life". Obviously, I am not happy with him at the moment, though his comment comes from a place of ignorance so am not as angry with him as I would be if he were better informed. My uncle also alluded to saying the exact same thing, just in less flamboyant words after reading a New York Times article about Steven Silberman and Neurotribes (which may be a great book, but also has a "lets throw in the towel" message to its audience).

    1. I have also noticed that some of the substances used to treat aging (memory loss etc) are interesting for types of autism. The same is/will be true for some substances that treat obesity. This will at least make the substances available and less expensive.

      I also find it odd that many millions of research dollars are spent to make some very old people live an extra few months and yet it is OK to write off the life of a 3 year old with classic autism. Strange world with strange priorities.

    2. Speaking of which, a new treatment for Parkinson's disease upon a cursory glance would be an excellent candidate for classic autism which like Parkinson's has all the etiologies regarding damaged neurons such as atrophied axons as well as their myelin (from oxidative stress), excess and immature synapses, not to mention very atypical branching of dendrites.

      In this treatment they reprogram macrophages to produce GDNF which helps signal neurons to heal and stimulate the growth of neurons. But of course as many "autism professionals" will tell you, treating autism is just a manner of doing enough ABA a week so this kind of treatment I guess would be a waste of time since autism is not a medical condition but purely a psychological one right?

  3. I could go on and on about what I believe the consensus should be with regards to medically treating autism in a serious way, but I am not a professor or a well regarded scientist. Unfortunately for us parents, professors or well-regarded scientists will never publicly state what needs to be done and actually try and do it (i.e. put their research dollars and time where their mouth is) because in scientific circles these days, the price of failure is extreme in that if you are a postdoc trying to become a professor or else if want to make tenure as an associate professor, your research cannot EVER fail and as complex as autism is, the chances of failure on your first attempt is going to be very high, especially since all the low hanging fruit has already been picked.

    In the meantime, I have been working on a therapy that I have made huge progress in over the last several years (last year especially) in the neuroscience area of things (yes I am being vague for good reasons), which of course would be used in parallel with interventions that deal with the biology end of things. Unfortunately, I still need to do a lot more reading (I have like 20 papers in the queue at the moment) so as to cross my T's and dot my I's with respect to this therapy being useful specifically for autism, as well as source equipment necessary to validate what I actually think is happening (i.e. EEG) and then go from there (i.e. it could be a total failure but at this point I feel it may be more promising for low-functioning autism than anything else I have come across so far that does not involve drugs/supplements which I reiterate is one very important component of getting low-functioning people with autism to a state of mind where they have the agency to have the kind of life that most everyone else takes for granted. It is safe using the right parameters and could be generalized to all kinds of other things, but the main point here is that there are people such as myself who are crazy enough to spend almost all their free time assimilating all this knowledge with the intent of coming up with real solutions for real people (and their families) who suffer every day while parents fresh from their first autism diagnosis are still told that all they need to do to "cure" their child is lots of extremely expensive early intervention therapy, when there is a lot of research that suggests some of the worst symptoms can be significantly attenuated if autism is treated as a medical condition, rather than merely as a psychological condition or as a generalized intellectual disability.

    And while I am hopeful that someday all the perinatal genetics research will bear significant fruit in treating autism to the point that those diagnosed can lead fully independent lives via a slow drip in the invention of better scientific tools and better computing algorithms, I don't believe at all that that there is any hope in the future for existing people with autism ever having any new useful medical or neurological therapies available to them as the impetus is just not there (at least in the United States) to even try what the conventional wisdom says is impossible right now. You certainly won't get any established professors or scientists to stake their careers on helping these people because the consequence of not succeeding immediately, means the death of their professional life.

    1. Thanks, Tyler.

      The odds are indeed really stacked against you, if you happen to have autism with ID. Nobody is interested in medical treatments for ID, even though some exist.

      Good luck with your research.

    2. Anyone tried Buteynko breathing method. It is a method to retain more CO2 in your system

    3. Speaking of your experiences with Bumetanide which I have been interested in some time, just have not found a good way to source it yet or at least a doctor that would prescribe it for autism off-label:

      Here is some research showing dramatic behavior changes when a single neuron type in C. Elegans is switched from inhibitory to excitatory. In autism chloride cation channels are peturbed in many autistic individuals (perhaps even most) such that many inhibitory neurons in various parts of the brain act are excitatory rather than inhibitory. You have covered this extensively on your blog so I will leave it at that.

      Though this research deals with worms, its findings kind of makes you wonder why getting the Bumetanide trials to stage 3 is taking so darn long, besides of course the obvious in that it is a drug that is off patent and therefore any funding for the research will come from increasingly limited and competitive public science research budgets.

      Maybe a kickstarter campaign needs to be pushed to get this research to stage III, especially in the states where at the moment there seems no hope in using this medication legally for those with symptoms that suggest an interneuron chloride homeostasis imbalance (such as GABAergics paradoxically making many people with autism manic instead of sedated).

    4. Some people in the US are buying bumetanide from internet pharmacies in Mexico. It does make it expensive, but at least they can trial it.
      Apparently there is a great deal of resistance to getting the drug approved and widely available. I guess it would upset many people and their interests, who seem not to want to treat autism.

    5. Thanks for the heads up. Will look into this suggestion with extreme caution of course.

  4. Peter, your blog has a lot of followers, not only parents but also doctors and scientists and why not marketeers... If you ever came up with an important message, proposed a political agenda or wanted to raise voices on a specific topic regarding autism I am sure this "community" would stand up.
    If you ever get that book published I would happily buy some extra copies and send to selected people in the main pediatric hospitals here!
    Keep up the good work and do not hesitate to ask if there is anything I (we) can do for you.


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