Showing posts with label Wakefield. Show all posts
Showing posts with label Wakefield. Show all posts

Thursday 22 November 2018

Sugar-coating Autism and Autism Misinformation

Do you tell it as it really is? Or sugar-coat it, to make it more appealing?
It looks like in the English-speaking world we are more and more being driven by emotional political correctness, rather than calling things out as they actually are. Now this does not really matter if you are talking about relatively trivial subjects, which is what we deal with most of the time, but is a problem when dealing with a serious subject. When it comes to autism, giving the cold truth is quite upsetting to many people.
Bryna Siegel, a Californian Psychologist working with autism for a few decades has been promoting her new book, The Politics of Autism, in various articles.


She tells a lot of home truths that many parents and professionals do not want to hear and people often react very emotionally and quite aggressively. I have found myself on more than one occasion giving her support.
She has several key points to make.  Autism is indeed over-diagnosed and as long there is a financial incentive for this, prevalence will increase.
She is very critical of the results of inclusive education, based on what young people are actually able to achieve when they leave school. The idea of inclusion sounds great, but what actually matters is the end result, in terms of independent living skills and job prospects. She wonders if people with more severe autism are being taught the right skills, rather than just a dumbed-down version of the standard curriculum.
At times, even I think she is perhaps a bit too brutal, but I think I will buy her new book. Monty’s assistants are also keen to read it, so maybe I will also donate a copy to be shared.
I know one little boy with severe autism, who is entirely non-verbal, and has no sign language or facilitated communication device. I do not think he can read or write.  At primary/junior school he now has to learn a foreign language. 

Autism Misinformation
A good example of autism misinformation occurred recently following on from a popular UK daytime TV show, and was highlighted in the Questioning Answers blog.

The host was interviewing a mother about her son with autism and he asked the very reasonable question “has your child always been autistic?” This prompted an outcry from the public and a supposedly knowledgeable organisation called the National Autistic Society (NAS), the UK’s dominant autism organisation. The host was blasted for not knowing that apparently “autism is always present from birth” and “it is not something you can grow out of” and of course it is un-treatable.
Given this child was described by his own mother as having regressed at 18 months and lost his speech, he might well not have been born autistic. The research has shown that many things can trigger “autism” during childhood and we know that about 10% of kids diagnosed with autism do indeed later go on to lose their diagnosis, so they do pretty much grow out of their autism. But why let the scientific facts get in the way of the simple storyline?
I always found the idea of raising autism awareness to be odd; it very often is just promoting misinformation, or putting one random person forward to explain the condition to others. This just confuses other people.
It is much better to just raise public awareness of disability in general, both physical and mental and to tackle bullying at school. Kids should be aware that a small percentage of their peers have severe problems and a much larger percentage have less disadvantaging problems, that can often be mitigated with extra help and understanding during all those years spent at school.
People need to know that just as autism is a spectrum from severe to mild, so are many other conditions like ADHD or dyslexia. Some people just need a little extra help, but some others have profound problems. Sometime soon 10% of all kids will have a medical diagnosis, but only a small fraction will be disabled by it. 
You can have dyslexia and still make it through medical school, but don’t dream about it if your kid has Down Syndrome.

“Dr” Wakefield
I do think Andrew Wakefield was very unfortunate to have studied medicine in the UK and not the US; had he done so I rather doubt he would have ever lost his medical license and he would never have become so well known.  He has a right to his opinions and there are some far more cranky physicians merrily practising today in the US.
Wakefield seems to making himself a new life with Elle Macpherson.  This clearly upsets the UK tabloid media, who still portray him as the devil - how can the devil end up with a super model?  I wish them well. 
Wakefield likes to refer to autism as brain damage, which is rather brutal like Dr Siegel; but he is right in case of DSM3-type autism.
Nowadays people get upset if autism is called a disease, or a mental illness and even some researchers want to sugar-coat it and call it a condition as opposed to a disorder (Autistic Spectrum Condition).  
Giving a nice name to something disabling does not make it go away. It just makes some people without that disability feel better.
Having mentioned Wakefield, I suppose we have to touch on vaccinations.
It would also be great if it was possible to be entirely honest about what we know about vaccines and autism. It is well established that mitochondrial disease can be triggered by vaccinations and it can manifest as regressive autism. This does not mean that all regressive autism is caused by vaccines. This does not mean that people should not be vaccinated; it just means that there is a small risk of something bad happening. Left unvaccinated there is a much larger risk of something else bad happening. Public health believes lay people are too dumb to understand this, I disagree; you just need to be 100% honest and explain it.  It is fashionable to be selectively truthful, or let pass a little white lie. I think being 100% honest, brutally honest, is what is needed when dealing with such an important subject. 

Details do Matter
Whether it is an unusual medical condition like autism, or any scientific investigation, all the details in their entirety are extremely important if you want any chance of solving the problem.
I just had a medical procedure to correct a problem that I first raised 40 years ago. I had an operation 40 years ago for a Meckel’s diverticulum, but it was the wrong operation and for the wrong diverticulum. Last week I had the right operation and, what could/should have been identified and treated in childhood, got treated decades later. When I read the summary of the completed treatment, it is a very well written concise explanation, with all the diagnostic inputs.
Now when I compare this to autism, which is far more complex, I can see mainstream medicine in not yet prepared to try and treat it.
Where do you go to get a precise summary of your child’s unique variant of autism / brain damage, all in 100 words?  Perhaps this will also take another 40 years?
A first small step would be make sure what we do actually know about autism is more widely shared and that at least Autism organisations, with public funding, should be required to have a detailed understanding of what they are supposed to be advocating for. There are excellent organisations to represent other medical conditions, for example diabetes or even Rett syndrome, but not for autism.
Whilst waiting for my operation I had a visit from a curious Nephrologist who dropped by to take my photo (an ultrasound image) to show her friends. Being a liver specialist, she did naturally take a peek at that as well and asked if I knew I had some fat in my liver. Off she went, leaving me to figure out where this fat had come from. 

I am pretty sure it comes from another misdiagnosis I had recently.  I had a sudden reduction in hearing in one ear and not being able to resolve it myself, I went to an ear nose and throat clinic. The diagnosis was a simple case of wax in the ear. Unfortunately this was the wrong diagnosis; by the time I had returned from a trip abroad, quite some time had passed. The second doctor I consulted very quickly diagnosed an inner ear problem (Endolymphatic hydrops) that apparently is quite common but is often left untreated, leading to life-long problems. It leads to a degree of permanent hearing loss, tinnitus and potentially vertigo. A virus, infection or even a physical shock can cause a build-up in pressure in the fluid in the inner ear. If you begin treatment within a week, you have a good chance to avoid permanent hearing loss. My treatment started after almost one month, which was far too late, so I had ten days of injected steroids, starting at a very high dose.  
High doses of steroids can have many side effects, one of which is causing fat to get deposited in your liver. It seems the fat spotted by the curious nephrologist should gradually disappear. I hope so.
Not wanting to be left deaf in one ear and noting the doctor did not seem entirely hopeful, I did quickly engage myself and read up on the science and the medicine.  I regularly do this for my son, but did not think I really should have to do so for my own ear problem. Ménière's disease is an incurable condition, of unknown cause(s), that has major similarities to what was affecting me.  I found a study, with supporting MRI images of the inner ear, showing that the amount of fluid in the ear can be reduced by taking the diuretic acetazolamide/Diamox, at least in some people. I did take note of a Cochrane review saying there is no evidence that diuretics have any benefit, but I did check the MRI images for myself. There is plenty in the blog about Diamox and autism. In Ménière's disease, Diamox responders lose the benefit when they stop taking the diuretic and this is reflected in their MRIs.  Since my condition was hopefully not yet chronic, I thought the immune suppressing actions of the steroid were indeed the long term fix, but at this late stage only pretty immediate rather than gradual loss of inner ear fluid would avoid permanent hearing loss.
Since I have Diamox from a few years ago sitting at the back of my autism pill shelf at home, I decided to add that to my therapy for a few days.  Diamox is cheap, except in the US, and is usually very well tolerated. As a bumetanide family we have a good supply of potassium supplements and bananas, so no chance of hypokalaemia.
My hearing returned and I have no related symptoms (tinnitus, vertigo etc). I have no idea if Diamox helped, but I am certainly glad I took it.
Another side effect of high dose steroid plus acetazolamide/Diamox was a change to my eyesight, both near and distant vision. Both drugs can affect your eyesight, but I think it was the steroid, since I took Diamox once to avoid altitude sickness with no side effects.  The vision side effects gradually fade away when you stop taking the drug.
All this was a timely reminder that drugs and supplements can have unexpected effects and it is best not to get carried away with how many you give your child.  I did recently take Monty, aged 15 with ASD, to see a paediatric cardiologist for a lengthy ultrasound investigation and ECG because, rather bizarrely, his autism drugs are mainly repurposed heart drugs. Where we live it is simple to arrange such a check-up and there is open access to lab tests.  I am fully aware that in countries with universal healthcare trying to access anything unusual may not be possible, unless your GP “gatekeeper” is supportive.   One French parent told me that his doctor would not prescribe bumetanide for his son, but was willing to authorize the blood tests to monitor potassium, if he acquired the bumetanide somewhere else.

In a recent comment our reader David from Spain, who is trying to get his child into the large Stage 3 trial for Bumetanide, informed us that the current prediction is 2023 for commercialization of this autism therapy. That would be 11 years after my son began to benefit.  That is how long it takes to repurpose an existing drug.
This really makes me think that it is not just a case of autism needing personalized medicine, but rather parent-inspired personalized medicine. This is much easier if the parent is a doctor.
As I know to my own cost, medicine currently can struggle with even slightly unusual conditions, so we should not expect wonders from strangers, even when they finally do have approved drugs to prescribe.  
The key will remain parent-inspired personalized medicine. When you do finally get 0.5mg of bumetanide twice a day as an approved autism therapy, it will be up to parents to realize that 1mg once a day or 2mg once a day might actually be much more beneficial.
If you ever have sudden hearing loss in one ear, go to your doctor straight away and have him/her specifically rule out an inner ear problem. If you live in the UK, hopefully you will not be made to wait 2 weeks to get an initial appointment with your GP.  If you don’t live in a country with universal healthcare or don’t have insurance, I suppose some people just go deaf.

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.

Tuesday 25 August 2015

Vienna and some selected Autism History

Monty aged 12 with ASD, “You have been transformed into an Australopithecus afarensis, you walked upright more than 3 million years ago. Your picture is attached. This morphing-station is a co-production between Naturhistorisches Museum Vienna, Austria and the Smithsonian Natural History Museum in Washington”

We can never know if they had autism 3 million years ago, but it certainly is not a recent phenomenon.  Today’s post, prompted by a visit to Vienna, is a collection of historical episodes that I thought I should include in this blog, before I forget them.

Austria, as well as being home to an excellent natural history museum, where you can see what your children might have looked like had they been born 3 million years ago, is the home of autism. 

Both Hans Asperger and Leo Kanner were Austrian.  Kanner was later educated in Berlin and then, being Jewish, had the foresight to emigrate in 1924 to the US. In 1930 he developed the first child psychiatry service in an American pediatric hospital at Johns Hopkins Hospital.  He published his research on autism in 1943.  His narrowly defined type of autism became known as Kanner’s autism or classic autism; however if you read his actual case histories below you will see that they include quite high functioning people as well

Kanner clearly made a valuable contribution, but he also had some odd ideas, like autism is just a childhood condition, so adults cannot have autism and that autism is extremely rare.  He thought that if a patient had epilepsy they could not be autistic. He also famously suggested that autism was caused by refrigerator mothers.

But unlike all the doctors who preceded him, at least he wrote down his findings and sought out public attention.

Hans Asperger, presumably not Jewish, eventually became chair of pediatrics at the University of Vienna.  In 1943 he published, in German, his paper on autism that focused on gifted children and what would become known as Asperger’s syndrome. 

The paper was finally rediscovered in 1991 and translated into English by Uta Frith.  Thereafter in the English speaking world, people could finally be diagnosed with Asperger’s Syndrome.  Personally I think it is a very useful/clear diagnosis: - no speech delay, no cognitive dysfunction, just the trademark differences of mild autism.

It later became known that while he may have published research on very high functioning people, he also had many patients who were low functioning.  The reason Asperger highlighted the gifted children was that during World War 2, the Nazis had a program called Aktion T4, which was set up to kill people with disabilities (unable to work).  People with Down syndrome, epilepsy, mental retardation etc. were removed from their residential institutions or homes and given a lethal injection or just carbon monoxide poisoning.  The family later received a letter that the child had sadly died of pneumonia.

At Schloss Hartheim, near Linz, two hours west on Vienna, about 30,000 people were killed, including those selected under Aktion T4.

So not surprisingly, Asperger did not write about those with autism without special gifts and talents.

Schloss Hartheim

Great Ormond Street Hospital, London 1877

Twenty years even before Johns Hopkins Hospital had been founded in Baltimore, children with epilepsy, “autism” and GI problems were being treated in London at Great Ormond Street Hospital, today of Europe's top children's hospitals.

They were using a very early drug to shift the excitatory/inhibitory balance of the neurotransmitter GABA.  It was Potassium Bromide, which is still used today in Germany to treat children with epilepsy.  Of course back in 1877 they did not know why it was effective.  Below is a link to a fascinating chapter of a book.

In 2015 this same hospital would tell you that autism is untreatable and that GI problems are not comorbid with autism.

At some point I will be writing a post all about Potassium Bromide and autism.

More History

For those of you who despair sometimes about the low level of knowledge and understanding regarding autism among healthcare providers and even supposed “experts”, I suggest you look back at the history.

As is often the case, history holds many of the answers.

Until relatively recently most children with disorders like Downs Syndrome or classic autism were sent from a very young age to live in so called “homes for the feeble minded”.  In recent times this occurs far less common and nobody uses terms like feeble-minded, but nonetheless difficult to control children are still put “into care”.

It really was a case of out sight being out of mind.

As we saw in the data on Down syndrome in the US, life expectancy was extremely short in these massive institutions where the kids lived in dormitories.  The average being only 10 years as recently as 1970.

As in Austria and Germany, in the US being sent to a home for the feeble minded was very often a death sentence, albeit a slower one.  The Germans even went as far as to financially justify their actions by quoting the cost of keeping a child in an institution for 10 years (the same life expectancy of Down's kids in the US, just 50 years ago).

Given this backdrop, not surprisingly everybody kept quiet about autism, almost nobody was interested in treating it and nobody would dream of using the word autism, for someone who was fully verbal and not mentally retarded.

So it is hardly surprising that there are/were very few older people with autism, or indeed Downs Syndrome.

Homes for the Feeble-Minded

There were numerous Homes for the Feeble-Minded in the US and across the world.  Here are some examples.

Maine School for the Feeble-Minded

Throughout its first 40 years, Belchertown operated mostly without scrutiny from outside sources. Author Benjamin Ricci (whose son lived at the school, and who later led a class-action lawsuit protesting the conditions there) referred to the conditions as "horrific", "medieval and "barbaric". Doctors at the school had little regard for patients' mental capacity, evidenced by this quote:

His method of evaluating me consisted of looking me over during the physical exam and deciding that since I couldn't talk and apparently couldn't understand what he was saying, I must be an imbecile. [...] Since I couldn't ask him to speak up or repeat what he said, he assumed I was a moron

The horrendous conditions at Belchertown were revealed in 1971 in a newspaper article entitled "The Tragedy of Belchertown". Parents sued the school, and when the state Attorney General toured the facility, he described it as "a hell hole".

In Michigan they even gave a special mention to those with epilepsy:

Michigan Home for the Feeble Minded and Epileptic

Why feeble minded?

Going back 110 years in the United Kingdom, you can see where terms like feeble minded came from:

They disallow the name of “Lunatic” and “Asylum” and classify the mentally defective as follows:-
·          Persons of unsound mind (who require care and control).
·          Persons mentally infirm (who are incapable of managing their own affairs)
·          Idiots. Defective in mind from birth.
·          Imbeciles. (Capable of guarding themselves against common physical dangers, but incapable of earning their own living).
·          Feeble-Minded. (Persons who may be capable of earning their own living under favourable conditions, but are incapable of competing with others or managing themselves).
·          Moral Imbeciles. (Persons who display some Mental Defect with vicious or criminal propensities on which punishment is no deterrent).
·          Epileptics.
·          Inebriates.  All of these three are considered Mentally Defective.
·          Deaf, Dumb and Blind.

Almost all such people were, in effect, locked up. In the UK at that time there were 149,628 such people deemed to be mentally defective.  That is 0.4% of the population at that time.

Modern Times

In rich western countries large “out of sight out of mind” institutions are a thing of the past.  They still exist in some other countries.

Now that at least some children with disabilities are educated in the community, or at least live at home many things began to change.  

The incentive to hide your disability was replaced by an incentive to promote it.  For each child with a diagnosis extra money is allocated to the school district (in the US) and in many countries families are entitled to weekly or monthly benefits payments.

Changes to diagnosis began to be made such that children with MR/ID were now diagnosed as having autism, boosting prevalence.

Then from the 1990s onwards came the boom in diagnosing Asperger’s in children and then later diagnosing Asperger’s in quite old adults.  

Finally, just to confuse everyone, in the US at least, Asperger’s has been merged into autism.

Once a rare condition, autism has become anything but; all over the period of 20 years. But it is not the same autism.

Even though the science is clearly indicating that within autism are numerous separate biological disorders and as many as 1,000 genes are involved, the US psychiatrists, with DSM5, have decided that it is all just “autism” and you are ranked on a scale of 1 to 3 for severity. I would have thought 1 to 300 might have been more reasonable.

The key discriminating factors like regressive or not, MR/ID or not, epilepsy or not, speech delay or not are not seen a relevant.

As a result the modern diagnosis of “autism” then just begs the question “what sort?”

Better to forget about “autism awareness”; much better to explain what autism really is and how certain types can be treated today based on existing hard science.

Dr Wakefield

Until Dr Wakefield published his paper in 1998, few people were familiar with autism, because nobody spoke about it.  Talk of the MMR vaccine and autism created fear among parents.

In the end Wakefield did a great deal of harm, even though much of what he said was actually true.  There is an unwritten rule that must not be challenged, “vaccines do no harm”.

As Martha Herbert pointed out, everything regarded as “Wakefield” became taboo, and research in those areas became un-fundable.  The link to GI problems is one area she highlighted and is still disputed by many, but not Boston Children’s Hospital, supposedly the number one Pediatric hospital in the world.   

Hannah Poling

As was shown in the legal case brought by US neurologist Dr Jon Poling, regarding his daughter Hannah, children with mitochondrial dysfunction can suffer an inflammatory response to multiple vaccines that can trigger mitochondrial damage leading to profound autism.  This doctor meticulously documented his case and was awarded compensation of $1.5 million plus $500,000 a year thereafter. 

It turns out that in the last 25 years the US government has paid out $3 billion dollars in compensation for childhood vaccinations (see table below).

It was expected that this case would act as a precedent to later cases, opening the flood gates so to speak.  It did not.

In this case Dr Poling was much more effective that Wakefield.  He made his point and kept his medical license.

But the public health interest in vaccination programs is immense.  Hundreds of millions of lives have been saved by vaccines and nothing is going to be let to get in the way of that.  Vaccines are effective once a critical mass of people have taken them, (Herd Immunity).  So in theory it would be fine for certain groups not to be vaccinated, like those with genetic mitochondrial dysfunctions.

As Dr Poling pointed out, quite a large minority of people with autism do have mitochondrial disorders; even Dr Kelley from Johns Hopkins has referred to this.

Herd Immunity

When a critical proportion of the population becomes immune, called the herd immunity threshold (HIT) or herd immunity level (HIL), the disease may no longer persist in the population

It should be noted that in about 2% of people vaccination may fail to provide immunity.   In the case of influenza you have to know which type of virus to protect against.

Here is Dr Poling’s response to the highly sceptical Dr Steven Novella, an American clinical neurologist and assistant professor at Yale University School of Medicine and a blogger. Novella is best known for his involvement in the skeptical movement. He had written about the Hannah Poling case on his blog.

Dear Dr. Novella,

Your assertion that the scientific question of Autism etiology belongs to the medical community rather than Hollywood Stars is correct.  I also agree that Hollywood opinions are more likely to be broadcast to millions because of their position in the media.  This heightened awareness is nothing but a positive thing for the million families struggling with this difficult, and all too common, disorder.  Jenny McCarthy is an Autism Mom looking for answers and rattling some cages—good for her.  Amanda Peet is a new mom who believes in the importance of vaccines to protect her baby—good for her too.  Don’t attack the moms, listen to them.   

These issues are very complex as we exchanged before and not amenable to soundbites.  Regarding your entry on Hannah’s case, your blog entry unfortunately propagates several of the mistakes from the media.

In criticizing the journalism of Mr. David Kirby, you wrote:

“He refers again to the Hannah Poling case, a girl with a mitochondrial disorder who developed a neurodegenerative disorder with “features of autism” after getting a fever from vaccines.”

Actually—Hannah has diagnoses of DSM-IV Autism (by JHU/KKI psychology) and mitochondrial disorder (by two metabolic experts).  The only ‘degeneration’ that occurred (along with 6mos of total growth failure) after 18mos of NORMAL development followed vaccination and nothing else! Of course, any ‘scientist’ can obviously point out that temporal correlation in a single case never proves causation. Rule number one of pediatrics though is “LISTEN TO THE MOM.”  Are 10s of thousands of autism moms over the last decade suffering from mass hysteria induced by Hollywood?  Not likely.

You also noted:

“This special case - which is not a case of autism being caused by toxins in vaccines - says nothing about the broader vaccine-autism debate.”

The only thing unique about my little girl’s case is the level of medical documentation—5 to 20% of patients with ASDs have mitochondrial dysfunction.  Many other cases where mitochondrial testing is WNL is because "we never looked" not because the testing would be "within normal limits."  Most mitochondrial experts will tell you that the dots of autism and mitochondrial disorders are strongly connected.
Finally, you say:

“The case was settled (not judged in Poling’s favor, but settled) because both sides realized it was a special case that could not be extrapolated to other vaccine-autism cases.”

The case was not settled, it was conceded by medical representatives of Sec HHS.  We are obviously pleased with the HHS decision to concede our case, but we had NOTHING to do with the concession.  This was a unilateral decision from HHS (recall that HHS is the respondent, rather than the vaccine maker, as manufacturers have blanket liability protection afforded by the Vaccine Injury Program established in 1986)  I will not speculate on the obvious question—why concede?   Hannah’s case was positioned to set precedent as a test case in the Omnibus Autism Proceedings for potentially thousands of other cases.
With regard to the science of Autism, I have no argument with the assertion that a single case does not prove causation of a generalized autism-vaccine link.  What the case does illustrate though is a more subtle point that many physicians cannot or do not want to comprehend (ostensibly because vaccines are too important to even question).  Autism is a heterogeneous disorder defined by behavioral criteria and having multiple causes.  Epidemiological studies which have not found a link between autism and aspects of vaccination do not consider the concept of autism subgroups.  Indeed, in a heterogeneous disorder like Autism, subgroups may indeed be ‘vaccine-injured’ but the effect is diluted out in the larger population (improperly powered study due to inability to calculate effect size with unknown susceptible subpopulation).   I think former NIH Director, Dr. Bernadine Healey explained it best in that population epidemiology studies are not “granular” enough to rule-out a susceptible subgroup. 

Furthermore, ‘science’ has not systematically studied the children who fell ill following vaccination to determine what the cause(s) for their adverse reaction was.  It would follow that if you never tried to understand why a single child developed encephalopathy following vaccination—you wouldn’t have the first clue as to what aspects of vaccination you could alter which could increase the relative risk of that adverse event (whether it be thimerosal, live virus, or ‘too many’). Could the susceptibility be a mitochondrial genetic haplogroup similar to Chloramphenicol toxicity—sure it could!  Why did a few Alzheimer’s patients die of fatal encephalitis following administration of the failed AN-1792 vaccine, but the majority had no ill effects (vaccine didn’t work though)? 

Definition:  Autism is a heterogeneous systemic disorder with primary neuropsychiatric manifestations due to complex genetic and gene-environmental interactions likely affecting synaptic plasticity early in childhood development.  This new theory of Autism is rapidly replacing the ‘old guard’ dictum that Autism is a genetically predetermined developmental brain disorder of synaptic formation/pruning that is set in motion prenatally.  By the ‘10 year rule of science,’ your time is about up! 

Until the biological basis of ASD subgroups are better understood, further epidemiological and genetic studies regarding “Autism” causation will be relatively meaningless.  We need good science to be able to address these complex issues which parallel nicely the emerging story of genetic and environmental influences in Parkinson’s disease.  Perhaps some Parkinson’s researchers want to take a crack at Autism?
Recommended SCIENCE reading for the evening:
Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Mol Psychiatry 2008 Jul 8.  (The discussion includes thimerosal as a potential toxin that could trigger further perturbations of calcium homeostasis leading to neuronal injury—and in a mainstream Nature publication no less)

Thank-you Dr. Novella and his band of skeptics for continuing the debate.

Dr. Jon Poling
Jon S. Poling MD PhD
Managing Partner, Athens Neurological Associates
Clinical Assistant Professor, Department of Neurology, Medical College of Georgia
Diplomate, American Association of Neuromuscular and Electrodiagnostic Medicine
ASN Certified in MRI and CT Neuroimaging

In the US there is $0.75 levy on childhood vaccines to fund a compensation scheme.

By the 1980/90s almost all of the huge institutions for “feeble minded” children had been closed in the US and other Western countries.  The understanding of autism among medical practitioners did not really change.  Finally Asperger’s old papers were translated from German into English and in the 1990s large numbers of children started to get diagnosed with Asperger’s syndrome.  The stigma of such a diagnosis was no longer as it would have been a few decades before.


It is rather odd that many people’s points of reference regarding autism still date back to those two Austrians, Kanner and Asperger, from 1943.

Neuroscience has moved on a fair way since world war two, but in many ways autism has not.  In some ways it is now going backwards.

The main change is the surge of interest in Asperger’s, which is now, unhelpfully, being referred to simply as autism.  This does a great disservice to those with what used to be known as autism.  They generally cannot speak up for themselves and really do need customized medical treatment.

People with Asperger’s are more than capable enough to decide for themselves whether they want/need to treat their condition.

Fortunately researchers probably pay little attention to what is (mis)reported in the mass media regarding autism and the so those research papers will keep coming.

Drug firms have been struggling for decades to come up with new treatments for neurological disorders.  Apparently the disease likely to be first “overcome” is Parkinson’s.  Dr Poling did suggest in his commentary above that autism might benefit from some Parkinson’s researchers; maybe there will be some surplus ones sometime soon.

It is clear that no serious investigation of the type suggested by Dr Poling into the effect of vaccines on specific sub-types of autism will happen.  The link with mitochondrial disease and its treatment remains almost hushed up, even though the clinicians involved are at leading institutions (Johns Hopkins, Harvard etc.).  As one reader commented to me, “why is Dr Kelley’s work on mitochondrial disease and autism not published in the literature?”.

In reality, I expect that only a tiny percentage of autism can be traced back to vaccines, so there should be nothing for public health authorities to be fearful about.  Even Dr Poling remains pro-vaccines.

I am still shocked that in the US over $3 billion has already been paid out in compensation for damage caused by childhood vaccines.