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.

http://www.bbc.co.uk/programmes/p0312292

"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 5^th, 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.

Why Girls don’t get Mild Autism and Why Alpha Females may have Kids with Autism.

You may or may not have seen the 2006 comedy film Borat; it was critically acclaimed in the US, but took a bit of time to become a commercial hit.  It brought to public attention its writer, producer and leading man, Sacha Baron Cohen.

Ted, aged 13 and very neurotypical, is a fan of Borat.

In the autism research community, Sacha’s brother Simon is equally well known.  He is the Director of the Cambridge University's Autism Research Centre and a Fellow of Trinity College.

All very interesting,  Ted’s Grandfather also went to Trinity College Cambridge.  Ted’s brother, Monty aged 10 with ASD, has yet to produce a movie, but he has helped to produce an autism blog.    

As you may have noted on this blog, I am rather disappointed with the autism research coming out of the United Kingdom.  90% of the good stuff is from the US.

The extreme male brain theory of autism

One of the well-known autism theories is from Simon Baron-Cohen, it is called:-

The extreme male brain theory of autism

Simon has been developing his theory that something called “assortative mating” may be at least partly to blame for the spectacular rise in autism diagnoses.

The theory states that when people with strongly “systemising” personalities – the sort of people who become engineers, doctors and computer experts – marry each other and produce children, the effects of this kind of “male brain” are genetically magnified, increasing the chances of producing an autistic child – a child with what Simon suspects is an “extreme male brain”.

Strong “systemisers” are often slightly obsessive, perfectionist and make great scientists and are often extremely talented at music. But they sometimes have difficulties socially interacting with other people – a combination of traits that can blend into the milder end of the autism spectrum.

Some of the sharpest increases in autism diagnoses have been found in Silicon Valley, home to perhaps the largest population of successful systemisers on Earth. Tens of thousands of technicians, engineers and programmers work in the computer industry;  inevitably, many of these people marry each other.

Until relatively recently, being exceptionally bright was not much use to you if you were female. The opportunities for a woman to earn her living through brainpower alone were extremely limited. You could be a teacher, or perhaps, if you were lucky, a doctor.

Going to university was difficult and expensive; most did not even allow girls to study. There were certainly few opportunities for careers in engineering or the sciences.

Brainy women were not even seen as particularly desirable partners. Clever or rich men chose brides on the grounds of looks, “breeding” or both. If she did have a job, many employers would automatically fire a woman the moment she turned up with an engagement ring. So many clever, “systemising” women simply did not marry, or married late and probably had fewer children when they did.

Now everything has changed. Not only have the legal and social barriers to women entering the workplace as equals been largely dismantled, we also have the phenomenon of the desirable “alpha female”.

Fifty years ago many men were scared of smart women. Now, increasingly, alpha males want someone their equal. Fifty years ago, male airline pilots typically married stewardesses; now they marry other pilots. Doctors used to marry nurses; now they marry other doctors.

But the phenomenon of like marrying like may be having completely unexpected consequences.  

The Peter Theory of the Neuroprotective Effect of Female Hormones in Autism

Unlike Simon, I do not have a brother who is a movie star, with a Golden Globe; my brother designs car engines, but his engine did win the International Engine of the Year Award in 2013.

I always wondered why it was that kids with autism are mainly boys and when you do meet an autistic girl, she tends to be at the moderate to severely affected end of the spectrum.  Then there is Simon’s observation that alpha females produce disproportionately more kids with ASD.  Then there is the question as to why Anglo-Saxon countries (Australia, Canada, New Zealand, the United Kingdom, and the United States) but particularly the US, have a higher incidence of autism than the rest of the world; is it really just over-diagnosis?

The hormones Estrogen and Progesterone are known to be highly neuroprotective.  Testosterone may also have some neuroprotective properties, but they seem to be of a lesser extent.   While Estrogen and Progesterone are known as female hormones and Testosterone is the male hormone, both sexes have all three hormones, just in different amounts.  We learnt in an earlier post that the stress hormone Cortisol is neurotoxic.

Imagine an experiment:

On the left, you have a stressed alpha female
 (cortisol↑ testosterone↑ estrogen↓  progesterone↓)

with a male fetus (testosterone↑ estrogen↓ progesterone↓)

On the right, you have a calm beta female
 (cortisol↓ testosterone↓ estrogen↑  progesterone↑)

with a female fetus (testosterone↓  estrogen↑  progesterone↑)  

Then both subjects experience a sharp oxidative shock from the environment.

The beta female, with the female fetus, have a major neuroprotective advantage . They can generally weather the storm; only in severe cases is the neuroprotection overcome and the result is a severely autistic girl. 

The alpha female, with the male fetus, cannot weather even a moderate shock and the result is a mildly affected autistic boy.  The more rare severe shocks, produce severe autism.

The kind of insults that produce damaging oxidative shocks have been well documented by researchers like Abha Chauhan. 

Conclusion

This latest Peter Theory is hopefully flawed, after all, what do you learn about biology in Engineering School and Business School?  There should be much more talented people out there.  If it was correct, it would open up avenues in very simple preventative medicine.


P.S.   I am using a little dramatic license; Simon is actually Borat's cousin, not strictly his brother.

Autism Framework of Restricted Vision

Today's post is about a new framework to help us all understand what is going on in the world of autism.  If you read a lot, you will have heard of Mindblindness and Mindreading.  It is an interesting idea developed by Borat's big brother, Simon Baron-Cohen.

You may recall that Monty's afternoon therapist and pal is called Dule ("Doolay"); well Dule and I agreed a long time ago that at least half of the problem lies not in the mind of the autistic child, but rather in the mind of the "normal" adults. Simon's brother Sacha (Borat) would probably find this amusing, but it is actually true.

The Autism Framework of Restricted Vision shows how the adults cannot  see over the long red secret wall.  All they can see is their family doctor, and if they live in the US, their DAN doctor; not to mention quackery found on the internet.

Here is what the other characters can see:-

1. Family doctor can see the NICE guidelines
2. DAN Doctor can see the quackery and if he/she chooses also the fundamental scientific research.  There is a lot of money to be made in various "laboratory" tests, supplements and potions.
3. Neurodevelopment paediatricians are basically good.  They see everything, they note that the wizz kid researchers rush off to patent their ideas and set up a "Micro Pharma" company to exploit them.  They will wait until everything is FDA approved, before they try anything new.  Nobody wants to be on the wrong end of a lawsuit, do they?
4. Micro Pharma are the start-ups, created by the wizz kid researchers. I wish them the very best of luck, Mr Lemmonier and Mr Hardan in particular.
5. Big Pharma is showing some interest in autism and they have some drugs being trialed, but I would put my money on Micro Pharma. 
6. NICE we covered in an earlier post. National Institute for Health and Care Excellence will tell you in 780 pages what the Neurodevelopment Paediatrician will tell you in a short email.
7. Quackery is the lucrative field of exploiting the plight of desperate parents, it seems to be mainly a US-based activity.  There are elements of quackery that are actually interesting; the reason being that there are only so many elements in the human brain.  If you mess around with enough of them, you may in the end hit on something that does actually work.

My approach is to take off the blinkers, climb over the secret wall and go direct to the data, that is to say, the fundamental scientific research.  There is plenty of it.

Coming next is a series on biological markers in autism.  These markers should lead us to our final destination.