Thursday, August 02, 2012

Rethinking Autism: One Disorder or Many?

The following reviews and book description are from  Amazon and provide a glimpse into Rethinking Autism: Variation and Complexity by Lynn Waterhouse a book scheduled for release by Amazon on October 15, 2012.

Rethinking Autism promises to be a paradigm shattering approach to understanding what is now commonly called Autism Spectrum Disorder.  With the APA's DSM-5 committee about to jam the existing recognized pervasive developmental disorders into one spectrum Lynn Waterhouse's book looks like it may present a very timely challenge to the  thinking of the American Psychiatric Association's DSM-5 team:

"A seminal book forcing a much-needed change in the way in which we think about autism.  Impressively well-researched and well-argued.  A 'must-read' for all autism researchers."

--Prof. Jill Boucher, City University, London, UK

"For too long, clinicians and researchers have treated autism as a distinct syndrome. Waterhouse challenges this view with a scholarly review of evidence. Yes, there are children with pervasive developmental difficulties, but no, they are not a homogenous group - either in terms of symptoms, or underlying causes."

--Prof. Dorothy Bishop, University of Oxford, UK, Review of Rethinking Autism Lynn Waterhouse, 

Book Description

The media, scientific researchers, and the Diagnostic and Statistical Manual all refer to "autism" as if it were a single disorder or a single disorder over a spectrum. However, autism is unlike any single disorder in a variety of ways. No single brain deficit is found to cause it, no single drug is found to affect it, and no single cause or cure has been found despite tremendous research efforts to find same.Rethinking Autism reviews the scientific research on causes, symptomology, course, and treatment done to date.and draws the potentially shocking conclusion that "autism" does not exist as a single disorder. The conglomeration of symptoms exists, but like fever, those symptoms aren't a disease in themselves, but rather a result of some other cause(s). Only by ceasing to think of autism as a single disorder can we ever advance research to more accurately parse why these symptoms occur and what the different and varied causes may be. 

- Autism is a massive worldwide problem with increasing prevalence rates, now thought to be as high as 1 in 38 children (Korea) and 1 in 100 children (CDC- US) 

Autism is the 3rd most common developmental disability; 400,000 people in the United States alone have autism 

-Autism affects the entire brain, including communication, social behavior, and reasoning and is lifelong 

- There is no known cause and no cure 

-Funding for autism research quadrupled from 1995 to 2000 up to $45 million, and the Interagency Autism Coordinating Committee has recommended $1 billion funding from 2010-2015

I admit that, as the father of a 16 year old son with severe Autistic Disorder and profound developmental delays, I am predisposed towards Ms Waterhouse's approach to understanding autism disorders even though it does in itself appear to be based purely on genetic models of autism. As a father who has advocated for evidence based autism services in Canada I am no fan of the very high functioning autistics who oppose parents whose sole aim is to help their own disabled severely autistic children. I do not see the very high functioning autistic self advocates who purport to speak for all persons with autism disorders as sharing similar conditions or disorders with my severely autistic son. 

I have no illusions about whether Ms Waterhouse's perspective will be accepted  and I predict right now without hesitation that it will not be embraced by the academic, medical, pyschiatric and psychological communities that shape our understanding of autism or autism(s). Several years ago I was enthusiastic about what appeared to be a paradigm shift from the "it's gotta be genetic" view of autism causation to a gene-environment model.  It has happened to some extent but  authorities are still timid about embracing it and still funnel massive amounts of research dollars in support of  genetic research while neglecting to develop a strategic plan for researching environmental factors as recommended by a group of  researchers led by Philip Landrigan and by the efforts of Irva Hertz-Picciotto and her colleagues.

While Rethinking Autism emphasizes variation and complexity of autism disorders the DSM-5 has moved in the opposite direction to combine the various recognized pervasive developmental disorders into one Autism Spectrum Disorder which could more accurately be described as Asperger's Spectrum Disorder. A Twitter tweet by Dr. Jon Brock brought the impending Rethinking Autism book to my attention. After I made an online comment about the book I was alerted to an existing paper by Lynn Waterhouse, Autism Overflows: Increasing Prevalence and Proliferating Theories, which appears to set the stage for her forthcoming book.

I have only just read the Autism Overflows paper once and, as a humble autism dad, I do not pretend that my understanding of the paper is "complete".  Some elements of the paper seem very straightforward and readily digestible though and appear to me to run contrary to the DSM-5 direction:

"Forty-five years of autism research has not produced a reasonable or progressing standard causal theory of autism. The myriad of competing theories of autism, while supported by evidence are, nonetheless, ad hockery. As Happé et al. (2006) title proclaimed “It is time to start giving up on a single explanation for autism” (p. 1218). 

Conclusion: The Center Will Not Hold 

 Rather than continue to construct theories that try to explain all the variation in autism, there should be a paradigm shift accepting that all the phenotypic and genotypic variation in autism cannot be encompassed by any single theory. De facto, if autism is caused by such a myriad of neural and other systemic deficits in development, there must be phenotypic and genotypic subgroups that have not yet been discovered.


Judging from many specific findings like those of Kelley et al. (2008) and the review conclusions of Amaral et al. (2008), Nicolson and Szatmari (2003), and Stanfield et al. (2008), it is improbable that two or three phenotypes (Folstein, 2006; Happé et al. 2006) will be sufficient to accommodate the collocation of deficits now included in autism and ASD. This leaves the field in a definitional quandary: If there is no autism, how can populations with the current diagnostic deficits be defined? 

 The social explosion of awareness of autism and the increasing prevalence of autism create a strong social force against disbanding the diagnostic category. However, public pressure increases the need to generate productive and predictive models, and this cannot be done while research and theory remain focused on explaining autism as a monolith.

“The only genome-wide feature specific to humans so far detected is the acceleration of evolution of genes expressed in the brain” (p. 700). Given the thousands of brain-expressed genes and genes for brain development that influence aspects of social interaction skill and flexible behavior in changing contexts, and given findings to date for the genetic basis of autism (Grigorenko et al. 2008; Morrow et al. 2008; Zhao et al. 2007), it is not reasonable to assume that in the future a gene or set of genes will be found to provide a unifying causal explanation for autism. 

Autism research should start over with a new hard core assumption that autism consists of more subphenotypes and subgenotypes than we have yet been able to hypothesize. We could begin with a provisional list of as many deficits as have been discovered in association with autism. Work could then proceed, via non-statistical analysis of complete genotype and phenotype studies of individual variation, to form groups. Exploring individual variation patterns while resisting the pressure to identify every study finding as “the cause of autism” might help move the field toward a progressive and productive splintering of the monolith."


Anonymous said...

This prompts a response worthy of a 11-year-old: well, DUH!

megan said...

Thanks for the breakdown of the book. Been looking to read up more about autism and sounds like this is one the check out.

Claire said...

This is very interesting to me Harold. As a teacher of small children, I see everyday and very early in the game, little ones with what I call neurological "glitches" in their behaviour and overall functionning, some physiological, some behavioural, many combined. I have reached a point where I can tell the difference between behaviour that is based in emotional issues as opposed to those based in neurological issues. I did my research about vaccines over 20 years ago before it was so controversial to say one thing or another, and before autism was the catch-all phrase used for neuro problems. My conclusion was that environmental toxins played a huge role in the neurological health of our children. Vaccines (or more accurately the vaccine schedule) were only one type of hit to our kids' little bodies. The research needs doing. Our kids are paying the price for a very polluted world, from their conception onwards. It can't possibly all be called "autism".

Anonymous said...

I agree with "me." Our kids are not only paying the price for living in a world soaked in synthetic chemicals including gene-expression-altering endocrine disruptors, they are also paying the price for their grandmothers' use of powerful synthetic hormone drugs, which were commonly prescribed in pregnancy (we're talking millions and millions) from the 1950s through the 70s. These drugs impair epigenetic reprogramming of the fetal germline, meaning adverse outcomes aren't seen until the third generation (our kids).

Of course there's no monolithic disorder of autism. Of course lack of social, communication, and cognitive capacity is a mere surface manifestation of broadly disordered neurodevelopment caused by an untold variety of causes.

It's great to see this idea gaining ground in the dumdum world of academia; but tragic if it's grounded solely in the paradigm of rigid genetics.

Anonymous said...

It is scientifically weak to split autism into a broad range of diagnosis because it would involve to trash it's philosophical foundation, or said in another word it would be to create a neologism which one would have to cite the author of each time; to separate it from the inventor of the word's, Eugene Bleuler, meaning.

New name, where autism is a central symptom may thought be developed, also pervasive developmental disorders may cover a broader range of disorders than autism do, but to use the word autism to mean something other than Bleuler's meaning will only lay the ground for confusion.