Volkmar Says Many Intellectually Disabled May Be Excluded from DSM-5 Autism Spectrum Disorder Diagnosis

When I first pointed out that the DSM-5 New Autism Disorder would exclude intellectually disabled I was ignored by most, insulted and mocked by others.  Some were annoyed. When Catherine Lord confessed that the intellectually disabled were the real target for exclusion very few mentioned the exclusion of the intellectually disabled from the DSM-5 autism definition.  Certainly not the New York Times and other prominent Mainstream Media institutions that have wrung their hands over the possible exclusion of the very high functioning Autism ruling class.  

When Fred Volkmar, who kick started the current uproar over the possible exclusion of some with high functioning autism and Aspergers, mentioned in a Yale Daily News interview the possible DSM-5 exclusion of many of the intellectually disabled it did not merit any response from the MSM:

"In its next manual on mental disorders, the American Psychiatric Association plans to issue a single set of diagnostic criteria that will merge the four types of disorders on the autism spectrum, which include autism and Asperger syndrome. Although no current patient will be affected by the new rules, research by Yale Child Study Center Director Fred Volkmar suggests that the revision may disqualify a large number of intellectually disabled patients from receiving a diagnosis of autism spectrum disorder in the future."  [Underlining added for emphasis - HLD]

The autism spectrum is not just a spectrum. It is a caste system with the intellectually disabled occupying the lowest rung unworthy of concern or comment from the mainstream media or feel good, autism is beautiful, Neurodiversity variety autism advocates.

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DSM5 Exclusion? Autism Research Already Excludes Intellectually Disabled

"All children had normal IQ"

Abstract - Methods, Cheung C. et al, MRI study of minor physical 
anomaly in childhood  autism implicates aberrant neurodevelopment in infancy 

I have written several times on the exclusion of the intellectually disabled from autism diagnoses in the DSM5. Some people whose opinions I genuinely respect, but disagree with on this subject, have indicated that my interpretation of the new Autism Spectrum Disorder wording is incorrect. I am not convinced, much as I would like to be, and I have not been persuaded that my interpreation is incorrect.  

Another point I have made, which dovetails with this issue, is the exclusion of the intellectually disabled from autism research, a trend which has been going on for some time and is particularly clear in the MRI autism brains scan studies. The Cheung et al study published recently follows this trend: PLoS One. 2011;6(6):e20246. Epub 2011 Jun 8.

The exclusion of the intellectually disabled from the DSM5 Autism Spectrum Disorder, which might more accurately be called the Aspergers Spectrum Disorder, is in fact following the recent tendency to exclude the intellectually disabled from autism research. As a parent of an autistic son with "profound developmental delays" my opinion on this autism research tendency  is probably considered suspect but I would refer doubters to the statement by Catherine Lord, prominent autism researcher and DSM panelist 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]

Autism research, for what appear to be nothing more than reasons of research convenience, has already excluded intellectually disabled subjects. The DSM-5's Autism Spectrum Disorder reflects this trend. The severely affected by autism, the intellectually disabled, will be excluded from the ASD, from services and from our consciousness ... out of sight, out of mind.  

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Will The Intellectual Disability Elephant In The Autism Room Be Mentioned On World Autism Awareness Day?

From 30% to 60% of children with an autism spectrum disorder (ASD) have an IQ measure that falls in the intellectual disability (ID) range.

(Catherine Rice et al., Risk for cognitive deficit in a population-based sample of U.S. children with autism spectrum disorders: Variation by perinatal health factors, Disability and Health Journal, Volume 3, Issue 3, Pages 202-212 (July 2010)

The above range refers to the entire range of Autism Spectrum Disorders including Aspergers whch, by definition, excludes anyone with an intellectual disability. If you exclude Aspergers from the calculation then you are looking at a figure similar to the 80% figure referenced for non-Aspergers autism referenced in the 2006 Canadian Senate brief of the Canadian Psychological Association.  Yet we continue to ignore intellectual disability in our public discussion of autism.  Intellectual Disability is very much the elephant in the autism room.

One aspect of autism awareness events that puzzles me about autism awareness events is the extent to which they don't really raise awareness about the realities of autism disorders.  In many cases there will be no mention of the fact that autism disorders are exactly that ... disorders ... diagnostic categories listed in the Diagnostic and Statistical Manual of Mental Health Disorders of the American Psychiatric Association.  As the father of  a son with Autistic Disorder and "profound developmental delays" .... intellectual disability .... I have long been annoyed by the persistent attempts to hide under euphemisms like "profound developmental delay" and under blurred professional terms like "co-morbidity" the obvious fact that Autistic Disorder is actually a form of intellectual disability.  I am not just talking about IQ test scores although I am not a member of  the trendy IQ scores don''t count crowd.  Serious functional impairment in daily life is a real characteristic of Autistic Disorder. 

With news that the DSM5 would formally combine Aspergers with Autistic Disorder and PDD-NOS into the New Autism Spectrum Disorder the media rushed to report that some with Aspergers were concerned about being lumped together with the "other" autism categories, the categories which included those with Intellectual Disabilities.  No discussion of, absolutely no discussion, occurred, outside of this humble blog, about the possible negative  impact on the many with Autistic Disorder and Intellectual Disability of having the Intellectual Disability aspect of autism hidden further from public view.

Don't hold your breath while you search for information about Intellectual Disability and Autism on World Autism Awaerness Day.  On World Autism Awareness Day you are unlikely to find any mention of this important aspect of autism reality.  Unless you check this blog, Facing Autism in New Brunswick.  

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Toronto Star Repeats Outdated 100% Genetic View of Autism Causation

The Toronto Star's Heather Mallick, to her credit, writes in Mallick: The autism enigma — beauty and silence about some of the realities and misconceptions about autism. Ms Mallick and the Toronto Star point out that autism is not as pretty as it appears to some, that at the more severe end of the autism spectrum are some people who, without intensive behavioral therapy,  can not control their actions and will engage in self injurious behavior like hand biting. This type of candid, honest commentary about autism disorders is rare in the mainstream media which tends to focus on promoting high functioning autistic success stories.

In the course of her comments though Heather Mallick repeats an old, and increasingly outdated, view of autism causation ... that autism is essentially 100% genetic:

"No one knows the cause. Some say pollutants or multiple vaccinations in infancy (now discredited with the disgrace of British researcher Andrew Wakefield) but genetics will out. That’s because autism is inherited, a fact that causes panic and grief among parents who blame themselves yet are without fault, unless they continue to have children, some of whom will be autistic. There is no amnio test. It’s a roll of the dice." [Underlining added - HLD]

The opinion that autism is 100% genetic is no longer the dominant view about autism causation.  That opinion has been based largely on the fact that autism research funding had been directed almost overwhelmingly towards genetic based autism research.  That view was adopted even though, as stated several times by Professor Simon Baron-Cohen, in cases where an identical twin has autism the other twin does not always have autism pointing to a gene environment interaction as the bases for autism disorders. Many years later genetic autism research has failed, totally failed to find a single genetic basis for autism disorders.  The emerging view is that autism in fact results from gene environment interaction with much research to be done on the environmental side of that equation as stated on  the IACC website:

"As with many complex disorders, [autism] causation is generally thought to involve some forms of genetic risk interacting with some forms of non-genetic environmental exposure. ... In addition, a number of other environmental factors are being explored through research because they are known or suspected to influence early development of the brain and nervous system. Recent studies suggest factors such as parental age, exposure to infections, toxins, and other biological agents may confer environmental risk. ... Progress in identifying environmental factors which increase autism risk has been made recently (Eskenazi et al., 2007; Palmer et al., 2006; Palmer, Blanchard,; Wood, 2009; Rauh et al., 2006; Roberts et al., 2007; Windham et al., 2006), although this area of research has received less scientific attention and far fewer research dollars than genetic risk factors"[Underlining added - HLD]      - United States IACC (Interagency Autism Coordinating Committee)

The causes of autism disorders are not known.  There is little dispute that genetic factors play a significant role. There is also an increasing awareness that environment plays a role and that autism results from gene environment interaction.  This understanding should be made known to mainstream media institutions throughout Canada and the United States.

That point aside, however, kudos to Heather Mallick and the Toronto Star for presenting autism honestly as what it is, a disorder, one which is not always pretty for those who suffer from it.

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Autism in a Lab Dish? Call Me Unconvinced

The hot autism news of the day is that scientists have replicated autism spectrum disorder in a lab dish. A study published in Cell asserts that the authors have used stem cells to develpop  neurons.  I am not convinced. 

Maybe someday when we know what autism actually is we can replicate it but today when we can not yet agree on whether autism includes those with no obvious life functional limitations and when very serious challenges facing the 75-80% of persons with Autistic Disorder who also have significant intellectual disabilities are dismissed as resulting from co-morbidities I don't understand how anyone can claim to have replicated autism spectrum disorder in a petri dish.

Interestingly the Cell study Abstract indicates that Rett syndrom was used as an autism spectrum genetic model:

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we developed a culture system using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts. RTT patients' iPSCs are able to undergo X-inactivation and generate functional neurons. Neurons derived from RTT-iPSCs had fewer synapses, reduced spine density, smaller soma size, altered calcium signaling and electrophysiological defects when compared to controls. Our data uncovered early alterations in developing human RTT neurons. Finally, we used RTT neurons to test the effects of drugs in rescuing synaptic defects. Our data provide evidence of an unexplored developmental window, before disease onset, in RTT syndrome where potential therapies could be successfully employed. Our model recapitulates early stages of a human neurodevelopmental disease and represents a promising cellular tool for drug screening, diagnosis and personalized treatment.

The DSM-5 working groups have recommended that Rett's Disorder not be included in the DSM-5. The rationale for excluding Rett's Disorder is based on it's very specific and known etiology and the brevity of the autism like symptoms of the condition:

Rett's Disorder patients often have autistic symptoms for only a brief period during early childhood, so inclusion in the autism spectrum is not appropriate for most individuals.

Like other disorders in the DSM, Autism Spectrum Disorder (ASD) is defined by specific sets of behaviors and not by etiology (at present) so inclusion of a specific etiologic entity, such as Rett's Disorder is inappropriate.

Given the DSM-5 position on excluding Rett's Disorder from the Autism Spectrum Disorder it is difficult for this humble dad to see how a genetic model based on Rett's can be said to result in a replication of ASD in a dish.

I absolutely support autism research,including stem cell research, but the claim itself blaring in news headlines that autism has been replicated in a petri dish is in need of a good scrubbing with some  soap and water.

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UK Immigrant Autism Rates Study Confirms Environmental Component of Autism Causation?

The BBC is reporting a study that shows an increased risk of autism in children emigrating to the UK from Africa, the Caribbean and Asia with the risk being as much as 5 times greater for children of parents from Caribbean countries. The study may be the final nail in the coffin of the "it's gotta be genetic" cult like mindset that has dominated the thinking of  public health authorities over the past twenty years:

Speaking on Health Check, Dr Daphne Keen, from St. George's Hospital London, said while the findings show a clear link between immigration and autism - they could not determine exactly why this was the case.

The research covered 428 children diagnosed with autism during a six-year period. "We didn't find there was an increased risk in the parents who had migrated from other European countries," Dr Keen added. "The size of the increased risk was greatest for the Caribbean group. This was at least five times. "The risk was also very significant, but slightly less, for the African population and much lower, but still a little present, for the Asian population." Two factors The study took into consideration that it may just be a case of ethnicity - rather than migration - that caused the rise in cases.

The study took into consideration that it may just be a case of ethnicity - rather than migration - that caused the rise in cases. However, researchers compared their results with children born of UK-born parents with Caribbean, African and Asian roots. "We found when we analysed the two factors together, that the risk fell considerably.

"It seemed to suggest that immigration was the major factor, and ethnicity was just possibly a factor." One theory is that the stress of migrating could act as a "trigger" for the disability, a factor discovered in similar studies looking at the causes of schizophrenia."

It is interesting that the study authors immediately point to "stress" and "isolation" as possible factors but the obvious point is that there could be many different environmental factors arising in each area that contribute to the different rates of autism disorders.  Perhaps those who are genuinely interested in discovering all possible causes of autism disorders could look at exposure to toxic environmental substances from industries like mining,, differing vaccination schedules, exposure to different quality vaccines etc in the various countries studied even. 

If the reported autism rates are closely tied to the process of emigration per se then perhaps it would be helpful to  examine the vaccine schedules of people emigrating from the Caribbean and compare them to vaccines required from people emigrating to the UK from other European countries. Are children emigrating from the Caribbean required to take more vaccines closer together in time  in order to become eligible to emigrate to the UK than children from other European countries?

If the door to an open mindset on the environmental causes of autism has finally been kicked open then let's leave it wide open and do some real environmentally focused  autism disorder research.  Let us not assume that stress and isolation cause autism and that lead, cadmium, mercury and vaccines do not.  Parents genes have been under the microscope for decades.  It is long past time for the IACC and other world health authorities to stop pretending that autism iis 100% genetic and do some real autism research.

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Is Autism Rising? Autism Knowledge Will Be Lost in the DSM-5

Conor, May 1, 2010, Age 14, 

Autism Diagnosis at age 2

Autism rates then: 1 in 500

Autism rates as of May 1, 2010: 1in 110

Old  (past 2 years) Facing Autism in New Brunswick profile 

Autism Rates 1 in 150 

Autism Rates Today: 1 in 110

Autism Rates Post DSM-5:  Who Knows? 

Knowledge is power said   Sir Francis Bacon.  Unfortunately the American Psychiatric Association with its treatment of autism disorders in  the DSM-5 seems to disagree with Sir Francis Bacon.  The decision to merge existing Pervasive Developmental Disorders in the DSM IV , and to increase the numbers of persons by adding a category for  persons with  "sub-clinical" characteristics of Aspergers will deprive us of much knowledge about the nature of autism disorders and aggravate existing challenges in understanding what causes autism disorders.

One of the major debates about autism disorders revolves around the question of whether autism disorders are truly on the increase, and are caused by environmental factors or triggers,  or whether the startling increases (from 1 in 500 when my son was diagnosed in  1998 to the current 1 in 110 recognized by the CDC) in autism diagnoses is totally explained by the 1994 DSM-IV revisions and social factors such as increased social awareness of autism, diagnostic substitution, alleged greater access to services for autism diagnosed children etc.

Most of these excuses for denying that autism is really rising are speculative but the DSM-IV diagnostic changes are real and there is no dispute that those changes play a significant part in explaining some of the increases.  The debate rages though over whether it explains all or substantially all of the increase in autism diagnoses.  After the DSM-5 kicks in the debate, and our knowledge of autism disorders and whether they are really rising , will be muddied further by the expanded definition of autism spectrum disorders. Epidemiological studies will be weakened (unless they somehow can be argued to show vaccines don't cause autism) by the difficulty arising from comparing autism rates pre and post DSM-5.  Autism knowledge, important autism knowledge about the role of environmental factors  in causing autism disorders will be lost or obscured.

This comment was prompted by some revisions I am doing to this blog site. I added the picture, above, taken yesterday of my now 14 year old son Conor to my sidebar . When he was diagnosed 12 years ago I read of autism rates of 1 in 500.  As I read the profile section in the sidebar I noted my profile note of a couple of years ago referring to rates of 1 in 150.  I am now changing it to read 1 in 110.  After the DSM-5 is in full effect, and assuming I am still being a nuisance on planet Earth, my profile section might well state 1 in 50.  And arguments will rage over whether the figure reflects a real rise in autism diagnoses or changes brought about by the expansion and dilution of the autism categories in the DSM-5.

Autism knowledge and, according to Sir Francis Bacon, power over autism disorders,  will be lost.  The knowledge and power  to find treatments and cures for autism disorders; to help those with autism disorders who want to be helped, who need to be helped, will certainly be diminished and possibly  lost entirely.

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Autism Speaks Rejects Questions About Views of New Board Member Robison

I have been appreciative of much of the work done by Autism Speaks in raising autism awareness and funding for autism research. I have also found some Autism Speaks decisions questionable. In particular, I disagree with Autism Speaks decision to provide research funding to Dr. Laurent Mottron who is ideologically opposed to curing autism and who works with anti-ABA activist Michelle Dawson. Reacting to criticism that Autism Speaks does not have a person with Autism on its Board Autism Speaks has responded by appointing a very high functioning person with an Aspergers Diagnosis. The appointment of a person with Aspergers to me represents exactly that ... the appointment of a person with Aspergers not Autistic Disorder not severe autism not low functioning autism.

I am concerned that Mr. Robison and Autism Speaks will, contrary to the wishes of many families with children with Autistic Disorder, move its autism research spending in a more anti-autism cure direction. I am concerned that, with its powerful media connections,  Autism Speaks is moving toward adopting the anti-cure positions of some "Autism" self advocates with Aspergers and High Functioning Autism at the expense of persons with low functioning Autistic Disorder. Autism Speaks has already cowered before  those who view autism as a "different way of thinking", those who oppose research aimed at curing  autism by disassociating itself as much as possible from the "I Am Autism" video produced by parents of autistic children.

I posted a comment on the official Autism Speaks blog guest blog from Mr. Robison asking two questions. The comment did not pass moderation and does not appear on the Autism Speaks blog site. This was the comment I posted:

Mr. Robison do you feel that as a very high functioning person with an Asperger's diagnosis you have any particular insight to offer on behalf of very low functioning persons with severe Autistic Disorder or should the persons who actually care for them and have legal guardianship speak on their behalf?


If I may ask a second question, do you support research aimed at finding cures for autism?

I do not object to the right of Autism Speaks to moderate comments on its official blog site. I moderate comments on this site to prevent spam, profanity, abusive, offensive language and off topic comments aimed at disrupting discussion.  I thought my comment questions were fair and reasonable in the context of Mr. Robison's guest comment introducing  himself on the Autism Speaks blog and I do not see anything offensive or disrespectful in my comments.  Apparently Autism Speaks disagreed.

I respect Autism Speaks' right to moderate its blog site and to reject my comment.  I am not going to throw a hissy fit over Autism Speaks decision to reject the questions I posed for Mr. Robison.

I will take it  though as a sign, a bad sign, about Autism Speaks willingness to address openly some of  the issues that concern me as a parent of a  low functioning  son with  Autistic Disorder. 

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The Time is Now to Redress the Autism Research Imbalance

As with many complex disorders, causation is generally thought to involve some forms of genetic risk interacting with some forms of non-genetic environmental exposure. The balance of genetic risk and environmental exposure likely varies across the spectrum of ASD.  ..........  Researchers are working to better understand the interaction of genetic vulnerability with developmental experiences, such as a specific environmental exposure. While gene-environment interactions have been hypothesized to play a role in many medical disorders, these interactions have been difficult to prove or disprove beyond statistical tests showing that some genetic subgroups have a greater response to some environmental factor. ............ Progress in identifying environmental factors which increase autism risk has been made recently (Eskenazi et al., 2007; Palmer et al., 2006; Palmer, Blanchard, & Wood, 2009; Rauh et al., 2006; Roberts et al., 2007; Windham et al., 2006), although this area of research has received less scientific attention and far fewer research dollars than genetic risk factors. Environmental factors may be pertinent not only to brain development but also to chronic systemic features of at least some subgroups of ASD.

- The 2010 Interagency Autism Coordinating Committee Strategic Plan for Autism Spectrum Disorder Research - January 19, 2010, Question 3: What Caused This To Happen and Can It Be Prevented?

The 2010 IACC Strategic Plan  statement  that environmentally focused autism research has been under funded and largely ignored could properly be characterized as a long overdue confession by the autism research establishment.  Autism research has been  focused overwhelmingly on genetic causes of autism to the near exclusion of environmentally focused research. for well over a decade with potentially serious consequences for our current understanding of possible autism causes and treatments.   Given that imbalance it is perfectly understandable that few potential environmental causes of autism have been identified or confirmed through research.  If we don't open our eyes and look, if we don't do the research, then we will not find environmental causes of autism.

The overwhelming imbalance in favor of genetically based autism research was identified over a decade ago by  researcher Teresa Binstock in her 1999 description of the  "It's gotta be genetic" autism research paradigm.  Binstock  pointed to the culprit -  the old guard network that insisted that autism research be genetically focused in order to have any hope of receiving public funded research dollars:

My own hunch is that the NIH and NIMH will not change from within; the senior practitioners of the "it's gotta be genetic" model have too much influence. Just as Semmelweiss and his data were suppressed, so too will the NIH/NIMH autism-research insiders continue to act against the the growing body of new data in autism; the NIH's pro-genetic old-timers will cling to their paradigm and its funding. As a result, change within the NIH and NIMH will have to be initiated from outside those tax-supported corporations.

-Teresa Binstock, 1999, IGNAZ SEMMELWEISS and AUTISM: when prevailing paradigms resist change

The imbalance in favor of genetic over environmental focused autism research has resulted in a call for more balance from many sources and hopefully that call will result in more than lip service.  There have been signs of an autism research paradigm shift over the past few years from the purely genetic model of autism to one which looks at autism as the result of a genetic and environmental interaction but the pace of change has been far slower than first hoped as pointed out by the 2010 IACC Strategic Plan above , by Dr. Irva Hertz-Picciotto and by Dr. Jon Poling.

Too much time has been wasted on the irrational insistence that autism research must be genetically focused.  We have lost the knowledge that years of more balanced autism research, with greater attention to potential environmental factors, might have given us. We must find that balance as we move  forward or more knowledge, and possibly treatments and cures, will continue to be lost.

Environmentally focused autism research must receive more attention and funding. Even the IACC has recognized the imbalance in favor of genetic over environmentally focused research. 

It is now time to redress the imbalance. 

autism

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