#autism gene AUTS2 tied to dyslexia ADHD epilepsy ID motor delay microcephaly MORE SYMPTOMS should be part of ASD DX

"Dr. Lynn Waterhouse @autismideasfail 6 Sep http://bit.ly/17WbZVi   #autism gene AUTS2 tied to dyslexia ADHD epilepsy ID motor delay microcephaly MORE SYMPTOMS should be part of ASD DX"

The above Tweet by Dr. Lynn Waterhouse, author of Rethinking Autism: Variation and Complexity,  who also worked with Dr. Lorna Wing on the APA DSM-III-R diagnostic criteria for autism,  should be read by any existing DSM5 committee members charged with developing modifications to DSM-5 diagnostic criteria. The DSM-5 has doubled down on the failed approach of simplifying autism contrary to solid evidence and research. 

Dr  Waterhouse's tweet comment on the study Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution suggests to this humble father of a son who suffers from  severe Autistic Disorder (DSM-IV), profound Intellectual Disability and epileptic seizures, including two recent Grand Mal seizures, suggests as does her thorough, well researched Rethinking Autism text that the DSM-5 is taking autism disorders down the wrong path, a path that will cause serious harm to autistic children and adults and to the research necessary to develop successful evidence based interventions for autism symptoms and disorders.

Autism 2012: Disaster for the Autism Spectrum's Intellectually Disabled

"Autism Spectrum Disorder

Must meet criteria A, B, C, and D:

A.    Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:"

Autism annual reviews have been published by a number of sources most of  which ignored or mis-characterized the most important autism event of 2012.  The most important event by far and the one with the most negative implications for those who actually suffer from autism symptoms was the APA approval, on  Saturday, December 1, just before the holiday season, of the DSM5 as it is now written including the new Autism Spectrum Disorder.  The new ASD will preclude future autism diagnoses for those most severely affected by autism symptoms: those with moderate to severe intellectual disability. 

I have written many times about the express targeting for exclusion of those with intellectual disabilities.   I have been virtually alone in my criticism of this exclusion but I stand by my objection to that exclusion.  It is reprehensible.  It helps  insurance providers and governments that seek to reduce provision of autism treatment and benefits.  It helps those academics and researchers who are building careers researching every trivial idea they find fascinating without helping or bringing anyone with an autism disorder any closer to treatment or cure of the symptoms which in fact restrict their ability to function in the real world.  They are now free to conduct autism research without the need to include difficult to work with intellectually disabled, severely autistic children and adults among their subjects. It helps those persons with High Functioning Autism and Aspergers, their parents and other loved ones, who feel stigmatized by association with low functioning, intellectually disabled autistic children and adults.

Intellectual opposition to the direction the DSM5 is taking autism did arise in 2012 in Rethinking Autism: Variation and Complexity by Professor Lynn Waterhouse. She has articulated in a very comprehensive analysis, backed by learned authorities on every point, the fundamental problems with the new streamlined, simplified version of autism.  The title summarizes her arguments succinctly: autism is in essence a group of symptoms characterized by variation, heterogeneity and complexity.  The unified, simplified DSM5 ASD ignores that heterogeneity.  Every parent, academic and clinician who has repeated Stephen Shore's caution,  now a cliche, "if you've met one person with autism, you've met one person with autism" knows that autism is heterogenous, varied and complex.  The DSM5 however, contrary to all research and real life experience, pretends otherwise.  The DSM5 ASD is a false step, a road block to the understanding of autism disorders, autism symptoms.  Debates over whether autism is increasing, and what factors are involved with causing autism will be muddied again for another generation by the redefinition of autism.

The moderately and severely intellectually disabled who otherwise display the social communication and restrictive, repetitive criteria of the DSM5's New Autism Spectrum Disorder, will not be included in the new autism diagnostic era. They will be relegated to the Intellectual Disability group which will receive very little research attention or dedication of resources.  After all it will be deemed wiser to concentrate resources, including treatment and cure research resources, on those for whom successful results are more likely .... just as the distinguished, open minded, intellectually conflict free and oh so compassionate members of the DSM5 autism committee have done in their pre-Christmas gift to the intellectually disabled, severely affected members of the pre-DSM5 autism spectrum.  

DSM5 Autism's Targeted Exclusion Of Intellectually Disabled Is NOT Based on Research Evidence

Dr. Catherine Lord has attempted to sell her DSM5 New Autism Spectrum Disorder in a comment at the Huffington Post by telling the ignorant, unwashed public that we have nothing to fear from the DSM5 Autism changes. Dr. Lord is trying to paint those who disagree with the DSM5 Autism Do-Over as irrational  thereby deflecting legitimate criticism which she and her DSM5 colleagues have not been able to credibly answer.  My criticism of the new DSM5 is two fold. 1. It expressly targets for exclusion the intellectually disabled who are also autistic and 2. It oversimplifies a complex disorder.  

I have commented for the past 2 1/2 years on the DSM5's  targeted exclusion of the intellectually disabled. The new definition excludes persons with profound intellectual disability from an autism diagnosis even if they display ALL of the diagnostic criteria.  This exclusion is derived from the convenience of researchers and clinicians who find the challenge of working with severely autistic, profoundly intellectually disabled persons too overwhelming.   Dr. Lord herself pointed out the tendency of autism researchers to exclude those with multiple disabilities and moderate and severe intellectual disability in  Social Policy Report, Autism Spectrum Disorders Diagnosis, Prevalence, and Services for Children and Families:

""However, research in ASD has tended to use overwhelmingly White, middle to upper middle class samples, and has often excluded children with multiple disabilities and/or severe to profound intellectual disabilities". [underlining added - HLD]

Parents of children with severe autism and intellectual disabilities can not simply abandon our children. Unlike parents, autism researchers and DSM5 autism committee members do not have to find ways to work with the most challenged autism cases.  They simply exclude them by redefining them out of the spectrum.  They do so by ignoring the evidence of those diagnosed with autism and ID by existing criteria.

The express exclusion, "not accounted for by general developmental delays"  occurs in the introductory paragraph to mandatory criterion A of the DSM5 ASD definition:

"Autism Spectrum Disorder

Must meet criteria A, B, C, and D:

A. Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:"

Lynn Waterhouse in her newly released book "Rethinking Autism" Variation and Complexity, pages 382-385, references this express exclusion and argues that the exclusion of those with intellectual disability is NOT evidence based.  She points out that the exclusion is based on a faulty, non evidence based assumption that a  person's intellectual or cognitive disability causes the social communication deficits. Waterhouse argues that the exclusion of the intellectually disabled IGNORES evidence of published, credible,  studies indicating that 55-70% of those diagnosed with autism by prior criteria experienced intellectual disability based developmental delays.  The exclusion also ignores  genetic, chromosomal and neuroscience studies showing substantial overlap between cognitive disability and social communication deficits. 

Dr. Lord confessed in the NYT Amy Harmon interview that the DSM5 team targeted intellectually disabled for exclusion from the new Autism Spectrum Disorder.  That targeted exclusion of the intellectually disabled is not evidence based. It is not helpful to understanding autism disorders generally and will cause harm to the most severely affected by autism, the ones who are, apparently, too much of a challenge for Lord and the DSM5 Autism Do-Over team. The exclusion of the intellectually disabled from the new autism disorder, while not evidence based, serves the interests of researchers, clinicians and services providers who lack the good conscience and the intestinal fortitude to work with the most severely affected by autism disorders: those with  general developmental delays, those with intellectual disability.

I don't know if the DSM5 Autism team has a motto. An accurate, honest one might be:

"DSM5, simplifying autism complexity by ignoring the evidence; helping those with autism disorders, except those who are too challenging and inconvenient."

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, Amazon.ca 

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."