Wednesday, September 23, 2015

Does new genetic study refute the tenets of neurodiversity?

The main belief of the neurodiversity movement is that autism is a naturally occurring genetic variation.  The differences in the brains of autistic persons versus those of  "neurotypicals" are no more significant than differences between blondes and brunettes.  A common belief is that numerous genes in small amounts accrue certain evolutionary benefits but in large amounts cause autism.  According to Simon Baron-Cohen and Temple Grandin the reason autism has stayed in the population despite the fact that autistic people usually don't have children is that it  has traits that are adaptive and have evolutionary value.  For example attention to detail as measured by the embedded figures test, high scores on the block design test and pattern recognition.  Grandin has gone so far as to say that we'd all be cavemen if it weren't for autism genes.

New research from the Cold Spring Harbor Laboratory in New York would seem to refute that contention.  The scientists found that a number of cases of autism to be caused by rare genetic mutations in vulnerable genes.  These mutations were spontaneous, and due to the fact that autistics rarely reproduce these mutations don't stay in the population.  In some cases, they were transmitted by the mother who was less vulnerable to the mutation and did not become autistic.   Here is the study in its entirety in case anyone is interested in reading it. I read it, albeit with limited understanding, not being a scientist.

The scientists used a databank from the Simons Foundation that included multiple families with one autistic child.  Of course, one limitation is that they did not study multiplex families in which more than one child has autism.  This is not an uncommon occurrence as siblings of autistic children are far more likely to have autism than a child in the general population.  With fraternal twins it is more likely than in siblings.  In identical twins there is an even higher concordance rate, though not 100%.  Gadfly wonders if different results would be found for families with more than one autistic offspring.  Is it possible they have different genetic mutations or environmental causes for their autism?

Even though my father is a retired engineer and the prevalence of autism among children of engineers and physicists may be higher than in the general population, this makes some sense in my case as there is a history of mental illness, depression, ADHD, learning disabilities and probable autism in my mother's side of the family.  It's possible my mother carried some sort of genes that did not affect her because being a female provided some order of protection and they were passed down to me.  My non-autistic sister may have been afforded the same protection by virtue of her femaleness.

Another point of contention is how much of this is 100% genetic or just a predisposition with environmental causes?  The fact that fraternal twins are no different genetically than regular siblings, yet have higher concordance rates suggests a environmental factor.  Likewise with identical twins who are nearly the same genetically yet don't have a 100% concordance rate.

This would seem to refute the contentions of the neurodiversity movement that autism is the result of naturally occurring random genetic mutations that have evolutionary benefit and thus have stayed in the population.  Of course, I might be going wrong somewhere due to my lack of scientific knowledge and training.

It would also refute the contentions of the anti-vaxers or others who believe something else in the environment, such as pesticides and ultrasounds have caused a widespread autism epidemic and that genetics plays a limited role if any at all.  They say there is no such thing as a genetic epidemic.  That the prevalence would not have gone from 1 in 2500 to 1 in 68 just due to some de novo genetic mutations.  The explanations of some that I have read is that this study was financed somehow by big pharmacy who wants to cover up the fact that they somehow caused the autism epidemic.

I suppose the neurodiversity movement also has an explanation for what is wrong with this study and why the common genetic variation is correct and the limited number of genes that are vulnerable to de novo mutations that disappear from the gene pool have nothing to do with it.  I await their explanation.

Friday, September 4, 2015

Steve Silberman's bizarre take on Kanner's work and influence in the field of autism

Steve Silberman’s book, Neurotribes,  soon to be number eight on the New York Times bestseller list, is now the hottest news story and commodity in the world of autism.  He’s been lauded by the New York Times, NPR, and other media outlets for meticulous research on the history of autism and how it relates to what’s going on today. 

One of the underlying themes of Silberman’s book is that autistics were underdiagnosed in the past, until Lorna Wing’s work changed the world view of autism, resulting in higher rates of diagnosis.

Silberman cites Leo Kanner, the person credited for first discovering the syndrome of autism in eleven children he saw over the course of some years during the late 1930’s and early 1940’s, as  the culprit.  His reasoning is that Kanner, who first gave the condition of the children he assessed a name had a very restrictive criteria for diagnosing autism.  His definition was those of lower functioning autistics as opposed to Asperger’s, Frankl’s, and later Wing’s more expanded definition which included people more mildly on the spectrum.

One of Silberman’s tenets is that many people who should have received an autism label were denied appropriate services and supports that could have helped them cope because of Kanner’s parsimony.  This also lead people not to embrace the neurodiversity model of autism in which services and accommodations can solve or at least mitigate problems but instead look for causes and cures.  Silberman writes:  In real world terms being locked out of a diagnosis often meant being denied access to education, speech and occupational therapy, counseling, medication, and other forms of support For undiagnosed adults, Kanner’s insistence that autism was a disorder of early infancy meant decades of wandering in the wilderness with no explanation for constant struggles in employment, dating, friendships and simply navigating the chaos of daily life.  While by building foundations of a society better suited to its need and interests. After stating this, he goes on to subsequent chapters in which he alleges various ham radio operators and very prominent people in the IT field are autistic or have or had autistic traits. 

He makes numerous talking points in his book, interviews and blog posts to support this allegation.  He writes about Leo Rosa (Son of neurodiversity proponent and one of the authors of the thinking person’s guide to autism), a boy on the lower end of the spectrum, stating that Kanner’s influence still prevailed by the time this boy, not born until the twenty-first century by the time he was diagnosed.

Silberman posts the following comment on the Marginal Revolution blog:

The most significant and obvious way in which Kanner’s understanding of autism was monolithic is that every patient described in that paper is a child. Kanner’s model of autism did not include teenagers and adults. That’s not exactly his fault — he was a child psychiatrist. But the exclusion of teenagers and adults from autism was an omission of Kanner’s that Lorna Wing went on to fix with the invention of Asperger’s syndrome (Wing, “Asperger’s syndrome: A clinical account, 1981) and the broadening of the criteria to include all age groups (as well as the expansion of the lay concept of autism to include adults that followed “Rain Man.”) And note: even in that 1943 paper, Kanner makes the surprising assertion, “There is no fundamental difference between the eight speaking and the three mute children.” That’s overlooking a lot of heterogeneity for the sake of delineating a category. Lorna and Judith Gould originally felt that “Kanner’s autism” as a useful concept should be thrown away (“the findings of the present study bring into question the usefulness of regarding childhood autism as a specific condition” – Wing and Gould, 1979); but they ended up compromising and creating the image of the spectrum, which echoed Asperger and Georg Frankl’s concept of the autistic “continuum” that included children and adults.

In his book, Silberman states that Kanner would have excluded an individual that his colleague George Frankl (allegedly formerly Asperger’s colleague) had written about for an autism diagnosis because he had the genetic condition tuberous sclerosis.  He writes that epilepsy was also a basis on which Kanner excluded diagnoses of autism.  Silberman quotes writer Adam Feinstein, author of “The History of autism”, as stating he’d only seen 157 cases of autism by 1957 and that Bernard Rimland had stated that Kanner told him he’d excluded nine out of ten people that other doctors had referred to him for a possible diagnosis as being autistic. 

Before examining these talking points, here is Kanner's original article He also followed the cases into adulthood nearly thirty years later.

In actuality, there was a wide range of functioning between the eleven children whom Kanner (and perhaps George Frankl and others) evaluated.  Eight out of eleven of them had speech and could carry on semi-normal conversations.  Silberman, to bolster his argument, quotes Kanner as saying “There is no fundamental difference between the eight speaking and the three mute children.”  However, he omits the first part of this sentence.  As far as the communicative functions of speech are concerned, there is no fundamental difference between the eight speaking children and the three mute children.  Silberman then talks about Kanner’s description of some of the eight speaking children and how Kanner emphasizes their speech deficits, but neglects to cite the parts of Kanner’s 1943 paper where he emphasizes some of the instances of speech in the so-called mute children.  So, it was only in terms of speech, citing both the idiosyncratic speech of the eight milder children and some instances of speech in the more severely afflicted three cases.

Kanner’s first two cases, Donald and Fredrick, would be considered high-functioning even by today’s definition where a high percentage of autistics are still considered to have intellectual disabilities.  Alfred, one other case had an IQ tested at 140.  Even one of the mute chldren, Virginia, scored 94 on the Merril-Palmer nonverbal IQ test and the testing psychologist stated that this was likely an underestimation of her intelligence.  Some of the others would be considered more severe so there was a wide range between Kanner’s cases.     

Kanner ends his paper by stating that autism may be more common than it appears as well as emphasizing differences between the kids:  The eleven children offer as to be expected offer individual differences in the degree of their disturbances.  But even a quick review of the material makes the emergence of a number of essential common characteristics appear inevitable.  These characteristics form a syndrome not heretofore reported which seems to be rare enough yet is probably more frequent than is indicated by the paucity of observed cases. 

In spite of Silberman’s allegations, Kanner seemed to have been far more prescient than almost all of his successors to date as far as taking an interest in adult autism.  In the first paragraph of his 1943 paper he writes:  Since none of the patients has obtained an age greater than eleven years this must be considered a preliminary report to be enlarged upon as they grow older. 

Kanner indeed kept his promise, publishing a follow-up paper on his eleven charges in 1971 when he was well into his seventies.  He first reports on Donald T, who has done relatively well in spite of his autism, obtaining a college degree and working as a bank teller and would certainly not appear to be low functioning as an adult.  He reports on Frederick W who worked at the national office of air pollution and was lauded by his supervisor.  Another individual, Herbert, though still mute worked on a farm and carried out useful tasks. 

Though he states a patient of George Frankl’s who had tuberous sclerosis and epilepsy would not have been diagnosed by Kanner on that basis, Silberman neglects to provide any documentation for this in his copious endnotes.  This certainly is not true as Kanner child number ten, John F. did in fact have epilepsy and a focal abnormality in his left occipital lobe on an EEG which Silberman did not mention in his book.  Elaine (case 11) also went on to develop epileptic seizures.  However, this started in her twenties as reported in Kanner’s follow-up article and it is unclear whether or not her epilepsy was known in the 1940’s when Kanner first wrote about her. 

Did Kanner regard autism as necessarily being rare in the 70’s?  Based on one comment he made in the follow-up article, the answer would appear to be no:  It is well known in medicine that any illness may appear in different degrees of severity, all the way from the so-called forme fruste to the most fulminant manifestation. Does this possibly apply also to early infantile autism?
Kanner wrote this in 1971 at least a few years before Lorna Wing’s and Judith Gould’s attempt to find more people with autism and consider it a spectrum that Silberman alleges.

Autism wasn’t even classified as a category in the IDEA until 1991 which is also correlated with the huge spike in diagnoses.  Services for children weren’t widely available until then.  One of the few things Silberman gets right is that no one really cares about the problems of autistic adults.  This is nothing new in spite of the fact that Kanner, going back to the nineteen forties actually did take an interest in his patients as adults and followed them for nearly three decades.   

It would seem that blaming Kanner for this is indeed a stretch.  This historical perspective on Kanner’s work may serve the purpose of helping Silberman score points for the neurodiversity movement, but really does not seem to me to accomplish anything else.  This is aside from the fact that it is plain inaccurate.

  It is unlikely that any of the reporters from New York Times or NPR or any other media outlets that have publicized his book have ever read Kanner’s original paper in addition to his follow-up and most likely ever will.  No one of any importance will ever realize what Kanner really said and did in spite of Silberman’s spin on this work.  

Thursday, September 3, 2015

My unprinted letter to the l.a. times regarding Steve Silberman's op-ed piece on autism speaks

Over a week ago, Steve Silberman, author of "neurotribes", wrote an op-ed piece which was published by several newspapers including the Los Angeles Times.  I wrote a response that was not printed:

To the Los Angeles times:

As a man on the autism spectrum, I must take issue with Steve Silberman’s op-ed piece.  The type of funding that he suggests will do nothing to help autistic people.  It is not a disability that can be accommodated through education or other means.  There is no way that research dollars will be able to help with employment issues. 

Though science may provide no short-term answers, I believe in the long term that funding of scientific research will someday lead to viable treatments and possibly a cure, so I hope it can continue. 

Mr. Silberman makes numerous factual errors in his article.  Though he stated no autistic persons have served on autism speaks boards, John Elder Robison was on the scientific advisory board.  He is a high school dropout with no qualifications or knowledge in the field of autism science.  His appointment was only to quell all the noisy people who insist that autistic people must be on the boards of autism organizations in spite of lack of qualifications. 

Bob and Suzanne Wright never referred to their grandson as being missing.  The missing slogan only referred to missing knowledge of the genetic etiology of autism. 

Silberman has only spoken to autistic people on the mildest end of the spectrum and has completely ignored people who are nonverbal, wear diapers in adulthood and self-mutilate.  It’s shameful that the times would print the op-ed piece by this man whose forthcoming book will undoubtedly trivialize this horrible disability.  

Jonathan Mitchell, Los Angeles, California 

One point of correction, I sent them this email before Silberman's book came out and I read it. He did spend time with Leo Rosa, Shannon Des Roches Rosa's son, who is at the lower end of the spectrum so I suppose the statement he only spent time with higher functioning autistics might not have been completely accurate. But most of the people Silberman has spent time with were on the highest end of the spectrum.