Sunday, July 31, 2011

Is Walking Autism Therapy? No, Just Fun for Conor and Dad

In the space of two days Conor and I went on several walks together.  Nothing makes me feel better than going for a good walk, preferably along a trail or hiking in the woods.  I love being outdoors in nature and I always have. As an added bonus I like walking even more when I am walking with Conor.  

We took advantage of the long weekend to get lots of walking in.  It may not be as scientifically based as swimming with dolphins or riding horses in Mongolia but it makes me and Conor feel better. We both enjoy walking together. So far this long weekend here in New Brunswick we have gotten out for several trail walks and a bridge walk across the St. John River to downtown and back.  Autism therapy? Well  ....  at least as much as most unproven therapies that stretch therapeutic value into therapy but no, it is just healthy fun with my buddy Conor.

Thursday, July 28, 2011

Autism and the DSM-5's Unintended Consequence: The Return of Dr. Allen Frances

Dr. Allen Frances is engaged in an all out revolt against the DSM-5 revision process and those conducting the revision.  Underlying his revolt is an admission, at times express but always implicitly present, that if we have seen a series of false epidemics in areas such as Autism, ADD and childhood bipolar disorder then he, as much as anyone is responsible for those epidemics.  Dr. Francis oversaw the DSM-IV revisions on which he now puts great weight with his claims that we are now witnessing three false epidemics in autism, attention deficit and childhood bipolar.  Of late he has focused in particular on what he calls the false autism epidemic and in an attention grabbing catch phrase  the autism generation.

Having acknowledged his own failures Dr. Francis apparently feels free to say anything he wants about the DSM-5 revision process without first informing himself or without regard to unintended consequences for those whose lives are affected by those diagnostic descriptions. His comments about the allegedly false autism epidemic demonstrate that, contrary to message in his own sermons, he has not learned any lessons from his own previous DSM revision failures. In his speeches he proceeds in defiance of his own warnings that the APA DSM teams must proceed with caution when he offers unsubstantiated personal opinions without regard for their unintended consequence.

In The Autism Generation Dr. Frances offers a number of explanations for the increases in autism diagnoses, some of which undoubtedly play a significant but only partial role in explaining the startling increases in autism diagnoses:

The natural reaction to any plague is panic. Parents are now fearful that every delay in speech or socialization presages autism. Childless couples decide to avoid having kids. Parents with autistic children are desolate and desperate to determine its cause.

The British physician Andrew Wakefield’s vaccine theory became wildly popular among parents, many of whom began to withhold vaccination (thus subjecting their own and other children to the risk of entirely preventable, and sometimes serious, illnesses). Vaccination seemed a plausible cause because of the fortuitous correlation between getting shots and the onset of symptoms. Wakefield’s work has now been thoroughly discredited as incorrect and dishonest science. But fear of autism is so great, and the reactions to it so irrational, that in some circles Wakefield continues to be revered as a false prophet.

Other factors must be behind the sharp rise in the diagnosis. Before DSM IV, autism was among the most narrowly and clearly defined of disorders. Symptoms had to begin before age three and comprised a striking and unmistakable combination of severe language deficits, inability to form social relationships, and a preoccupation with a very narrow set of stereotyped behaviors. In preparing DSM IV, we decided to add a new category describing a milder (and therefore much more difficult to define and distinguish) form of autism, called Asperger's Disorder. This seemed necessary because some (still quite rare) children presented with more or less normal language development, but with grave social and behavioral difficulties. We knew that Asperger’s would likely triple the rate of autistic disorders to about 1 per 500-1,000, but this doesn't explain the new rate of 1 per 38.
A second possible explanation for the explosion in autism is that previously missed cases are now being more accurately diagnosed. This is probably a factor, but again only a minor one.
Perhaps, then, an environmental toxin is causing an epidemic outbreak of autism. This has been the most popular theory, but it, too, is a small factor, at best. There has been no sudden environmental change since 1994 to account for an explosion in rates. This doesn't entirely disprove an environmental vector, but it does make the odds quite remote – especially since there is a far more plausible explanation.

The most likely cause of the autism epidemic is that autism has become fashionable – a popular fad diagnosis. Once rare and unmistakable, the term is now used loosely to describe people who do not really satisfy the narrow criteria intended for it by DSM IV. Autism now casts a wide net, catching much milder problems that previously went undiagnosed altogether or were given other labels. Autism is no longer seen as an extremely disabling condition, and many creative and normally eccentric people have discovered their inner autistic self.

Where Dr. Frances came up with the idea that Dr. Andrew Wakefield is responsible for increasing autism diagnoses made by doctors and health care professionals is beyond me.  Attributing autism increases to panic stricken parents reacting years later to a the Wakefield article is pure nonsense. It seems like nothing more than a bizarre attempt to get   unthinking support for his opinions from those elements of the health care community who jump up and cheer whenever anyone attacks Dr. Andrew Wakefield. 

I know of no one who disputes the obvious fact that part of the increase in autism diagnoses is attributable to the addition of Asperger's Disorder to the pervasive developmental disorders or autism section of the DSM-IV.  As Dr. Frances acknowledges though  that  DSM-IV revision, together with more accurate diagnoses play only minor parts in explaining the increase.  

Dr. Frances then goes on to dismiss, in an extremely simplistic and superficial analysis substantiated only by his personal opinions,  the idea that environmental toxins are  possible sources of explanation for the autism increases.  Dr. Frances appears to be fundamentally ignorant of the CATS, the California Autism Twins Study, the positions statements of the IACC and Dr. Thomas Insel who has stated about the CATS findings:

"These new findings are in line with other recent observations supporting both environmental and genetic contributions to ASD, with the environmental factors likely prenatal and the genetic factors highly complex and sometimes not inherited" 

NIMH director Thomas R. Insel, M.D. 

Dr. Frances' dismissal of environmental toxins as possible contributors to the increases in autism diagnoses is inconsistent with current thinking and information concerning autism causation. It indicates that his opinions concerning autism should be considered carefully before being accepted.  When Dr. Frances goes on to refer to autism as a fad diagnosis and to talk about an autism generation he feeds the ignorance and prejudices of those who scowl at parents of autistic children when their children experience stress, even meltdowns, in public places.  He does not help, he harms, autistic children by spreading  misinformation about autism disorders.  He does so without providing any study or other authority beyond his own opinion for his dismissal of autism as a fad diagnosis. 

My son is 15 years old and he received his autism diagnosis 13 years ago in 1998.  That diagnosis resulted from consultations with a developmental pediatrician who conducted testing in sessions which lasted several months. We were referred to the pediatrician by our family doctor.  In all we began seeking an explanation for our son's obvious lack of development in areas like speech, play and family interaction in such games as peek a boo when my son was 1 year old in 1997.  We had not heard of autism at that time and we were not seeking a particular diagnosis, fashionable or otherwise.  We were not reacting in panic because of an article in a medical journal.  We wanted to know if our son was experiencing serious difficulties that would require specific medical help in order for him to grow and develop. We were exercising our parental responsibilities and caring for our son. 

Some of Dr. Frances' views and expressions of caution about the DSM-5 revisions seem to be based on real experience and common sense and I hope they are given serious consideration by the DSM-5 teams. I hope though that he follows his own direction to proceed with caution and limits his comments about autism to matters on which he can provide evidence and research findings.  I am sick and tired of professionals who dismiss parental concerns about their children's development and use them as tools to advance their own opinions. I assume that Dr. Frances, a respected psychiatrist, was placed in oversight of the DSM-IV because he contributed much to his profession and the people those professionals serve.  It will be better for autistic children though if Dr. Frances abandoned his stereotypical thinking about parents and educated himself about current autism research and thinking before expressing  unsubstantiated and possibly harmful opinions. 

Wednesday, July 27, 2011

Autism & Real Inclusion: Conor Counts the Days (40) to School

My son does not receive what many would consider an inclusive education. Those who subscribe to the philosophy that all children benefit from learning in a mainstream classroom  would be horrified to learn that my son receives his individualized, ABA based instruction outside the classroom in individual environments in the local high school.  He also begins and ends his day and spends time in a resource center with other children with challenges and interacts with other students to the best of his limited abilities in the common areas.

When Conor began school he started in the mainstream classroom and came home each day with bite marks on his hands and wrists.  That self injurious behavior declined substantially and has been almost non existent in the years between then and his first year in high school last year. For Conor the individualized learning area working with an autism trained education assistant and interacting with other students in the resource center and in other common areas of the school represent real, evidence based inclusion.  This is the inclusion that works for my son and the evidence is crystal clear.  

It would be nice if the ideologues who insist that all children must be educated in the mainstream classroom would break free of their ideological chains and look at the evidence. Some children require individualized learning environments for all or part of their day.  When learning is provided based on what works best for the child that is real inclusive education.  

Summer is tough for Conor.  He looks forward to going back to school, to Leo Hayes High School, and talks about school on a frequent basis.  One of the things we do to provide encouragement is to just ask him each day "how many days until school".  Conor provides the answer and in doing so feels better by knowing he will be going back sooner with each passing day.  Today Conor's answer was "40 days until school". I am sure he felt better than yesterday when the answer was 41.  Conor loves school, he loves a real, evidence based learning experience.  

To paraphrase one of autistic children's greatest friends, Dr. O. Ivar Lovaas, Conor is being taught in the way he can learn and part of the proof is in his eagerness to get back to school.  The way Conor learns is in an evidence based inclusive education that accommodates his learning needs and autism based challenges. 

Tuesday, July 26, 2011

What is Severe Autism?

What is severe autism?  Kim Oakley asks the question rhetorically before answering it in Silent Alarm. I strongly recommend anyone who wants to know what severe autism is read this latest comment by someone who has dealt with severe autism first hand, someone who knows what she is talking about:

Parents of severely-autistic children have had enough of feel good fa├žades. We can’t stand silent as a parade of imposters infiltrate the autism community. Nor shall we bow to the self-appointed autism elite. We’ve survived too much to play that game. We’re in the trenches. We know how to fight. Remember no pain, no gain? Severe autism is painful. By lifting the weight of it all, there is much to gain. Kim Oakley

Silent Alarm is exactly what the title says. Read it if you want to know the truth about severe autism.  Or read some mainstream media pap about the joy of autism if you don't want to know the truth. Better yet just sit back and wait until the DSM-5 pushes the severely autistic off the spectrum completely and remodels the autism spectrum in the image of those who are anything but severely autistic.

Sunday, July 24, 2011

DSM-5 Autism Shell Game game - a swindling sleight-of-hand gamevictim guesses which of three things a pellet is under
Synonyms: thimblerig

The DSM-5 treatment of autism amounts to little more than a shell game with autism, which once referred essentially to autistic disorder being replaced with Asperger's Disorder.  Look at the description of A 09 Autism Spectrum Disorder in the DSM-5 which is referred to in the DSM-5 as a proposed revision for the DSM-IV Autistic Disorder:

A click on the DSM-5 A 09 Autism Spectrum Disorder tab for DSM-IV refers the reader to Autistic Disorder as set out in the DSM-IV leading one to think that the new Autism Spectrum Disorder is in fact just a modified version of the DSM-IV's Autistic Disorder:

The most obvious difference is in paragraph 2 which refers in the introductory line to qualitative impairments in communication. One of the sub-paragraphs which assists in fulfilling that requirement for meeting an Autistic Disorder is "delay in or total lack of the development of spoken language".  The narrowing of communication deficits from general communication deficits to social communication deficits is not just a revision, it is a re-definition of autistic disorder.  Removing this important characteristic from "autism" constitutes an essential change from Autistic Disorder, at least from the perspective of this father of a son with autistic disorder who has had both delays in language development and a lack of full language development.

As can be seen in the DSM-IV description of Asperger's Disorder removing any reference to general language delay or development renders the new Autism Spectrum Disorder much more like the DSM-IV description of Asperger's Disorder which states in paragraph D that there is no clinically significant general delay in language. The only reference to language deficit in the new ASD is in the reference to social communication, a specific not general language deficits. Again, I am a humble parent and small town lawyer not an Ivy League educated psychologist or psychiatrist but I have to assume that language and general communication developments are among the most fundamental aspects of any human's development. To remove the general language and communication deficits from Autistic Disorder and substitute social communication deficits appears to me to be a straight forward substitution of Aspergers for Autistic Disorder in defining the New Autism Spectrum Disorder in the DSM-5.

Consistent with substitution of Asperger's Disorder for Autistic Disorder is the exclusion of persons from Autism Spectrum Disorder diagnosis where the mandatory social communication and social interaction deficits required under criterion A are "accounted for by general developmental delay". I have commented on this exclusion several times and I see no other reasonable interpretation of the exclusionary language in Criterion A of the new Autism Spectrum Disorder. Criterion A effectively brings to the DSM-5's new Autism Spectrum Disorder criteria D and E of the DSM-IV's Asperger's Disorder description ... no clinically signficant delay in language and no clinically signficant delay in cognitive development.

A reasonable interpretation of the DSM-5's new Autism Spectrum Disorder is that it essentially substitutes Asperger's Disorder for Autistic Disorder. Asperger's Disorder IS the New Autism Spectrum Disorder of the DSM-5.  The language of the DSM-5 which purports to show Autism Spectrum Disorder as a revision of the DSM-IV's Autistic Disorder is misleading, whether intentional or not, and it helps conceal  under which shell the "autism pellet",  in the new DSM-5 is located. The DSM-5 new Autism Spectrum Disorder is located under the DSM-IV's Asperger's Disorder. 

The DSM-5's new Autism Spectrum Disorder is no more than a glorified shell game with low functioning, intellectually disabled autistic persons and their families the unwitting victims. The new Autism Spectrum Disorder would be more accurately described as Asperger's Spectrum Disorder with the many severely affected, low functioning, intellectually disabled autistcs of the DSM-IV excluded.. 

Thursday, July 21, 2011

When I Can No Longer Walk With Conor

My buddy, Conor, 15
One thing about which I have no regrets is the time I have spent with my sons and, in the context of autism and  this blog,  my time with my 15 year old severely autistic son Conor. Many years ago I vowed to do whatever I could to make his life as enjoyable as his Autistic Disorder and profound developmental delays would possibly permit. To that end I engaged in autism advocacy in our province where, along with other dedicated parents, substantial success was realized. I have advocated specifically on his behalf to the best of my ability.  I have spent much time with my buddy cherishing each moment and conscious of the importance of enjoying my time with him.  We have had fun, lots of fun. What I have enjoyed most  is walking with Conor.  In part because walking is something I have always, always, always done.  
As a child I was a "wanderer".  I loved to just go "exploring" often before anyone else in our very safe military base community was up and awake. I loved to walk the roads of our town and more than anything I  loved to walk the trails and woods.  With Conor that has been probably my greatest joy just walking with my buddy along the beautiful trails of our community, along the rivers and in the woods. 
I have no regrets except that which I can not forestall forever ... the inevitable day when I can no longer walk with Conor and he must walk his own path through whatever wood, into whatever field, his life takes him.    I accept it as the reality that looms ever closer without regrets in that I have not squandered the time that I have had, and will not squander the time that remains, to enjoy his presence with us.  I do regret that some day my time walking with Conor will end. I will walk with Conor  until that day comes when I can not do so, the day when he continues on his own.

Wednesday, July 20, 2011

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.  

Monday, July 18, 2011

Autism, Genes & Environment: Why It Took So Long for the Genetic Autism Myth To Die

Studies of twins have established that it is not 100 per cent genetic, since even among identical twins, when one has autism, the likelihood of both twins having autism is only about 60 per cent. This means there must also be an environmental component, but what it is remains unknown.

Simon Baron-Cohen, The Sunday Times, December 15, 2007

The CAT, California Autism Twins, study has finally driven a silver stake through the autism is primarily genetic myth, finally debunking the "it's gotta be genetic" creature that has had an iron grip on autism research funding. What is truly difficult to understand is why did it take so long? Why has funding continued to pour into the genetic autism research accounts to the near total detriment of environmental research funding?  Professor Simon Baron-Cohen stated the obvious on several occasions including the above statement made in 2007.  The "refigerator mothers" half baked nonsense was accepted by virtually the entire public health community for many years before it was debunked.  In recent years the autism is genetic myth has held sway with little critical analysis even after Baron-Cohen's observations and despite producing no significant results whle inhaling most of the autism research dollars.  

What both myths were based on though was the assignment of blame to the parents of autistic children. In the refrigerator mothers theory it was cold emotionless mothers who were to blame. In the autism is genetic myth of course it was the genes of the parents. The refrigerator mothers and parental genetics myths both deflected possible causal fault away from commercial and health care products.   

Now the world's attention is turning toward possible environmental causes of autism. What both of the previous history lessons should teach us though is that even when environmental autism research is conducted parents will still be suspect and possible environmental factors generated by economic and medical interests, whether in the air, water, food supplies, children's toys, jewelry, water bottles, and of course vaccines  will be examined only reluctantly and studies implicating such factors will be subject to the most withering and microscopic examination .... the kind of rigorous analysis that was rarely applied to the refrigerator mothers and genetic autism myths during their decades of dominance. 

Sunday, July 17, 2011

Autism and Intellectual Disability in the DSM5: My Submission to the DSM5 Neurodevelopmental Disorders Work Group

July 17 2011

Neurodevelopmental Disorders DSM Work Group
American Psychiatric Association

Dear NDD Work Group Members

I am the father of a 15 year old son diagnosed at age 2 with Autistic Disorder and assessed with profound developmental delays conditions which severely restrict his everyday functioning. He requires, and will require, 24/7 adult supervision. Since his diagnosis 13 years ago I have actively advocated here in New Brunswick, Canada for government funding of evidence based early intervention and autism specific training of education assistants and resource teachers who work with autistic students. With other parents we have enjoyed some success in  these areas although we have had much less success in advocating for adequate adult care and treatment facilities for autistic adults. Throughout our efforts we were guided, and to the extent that we succeeded, we did so because of the leadership of American autism researchers such as Dr. O. Ivar Lovaas and others who established the evidence basis for the effectiveness of applied behavior analysis as an autism therapy. Throughout this time from 1998 the DSM definition of Autistic Disorder and the other Pervasive Developmental Disorders, the latter of which has become identified in popular usage and in research as the Autism Spectrum,  was constant. Now the entire category for the "Autism Spectrum" is formally being merged together in the DSM-5  into one disorder divided only by the extent to which daily functioning levels are impaired by the newly defined ASD. I have two primary concerns about this new Autism Spectrum Disorder as it goes through substantive change at both the "high functioning" and "low functioning" end of the "autism spectrum".

1) The effect of the changed definition on research conducted under the  DSM-IV definition of Autistic Disorder and the other PDD's. 

Although it is a far from being a unanimously held position,it has been often mentioned in discussion of the startling increases in rates of autism diagnoses that the increases are accounted for entirely by the definition changes of autism in the DSM-IV, even though that occurred some 17 years ago, and increased social awareness. It seems entirely predictable that a newly changed definition will also confound our understanding of real autism prevalence. 

2) The exclusion from Autism Spectrum Disorder diagnosis of those with Intellectual Disabilities.

As the father of a son who is severely affected by Autistic Disorder and who is "profoundly developmentally delayed" I am most concerned with the language of the DSM5's new  A 09 Autism Spectrum Disorder which appears to exclude those, or many of those, with intellectual disabilities from an Autism Spectrum Disorder diagnosis. The proposed Autism Spectrum Disorder definition stipulates that criteria A,B,C and D must all be met in order for an ASD diagnosis to be given. Criterion A states:

A.    Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays,...

The wording I have highlighted, "not accounted for by general developmental delays" when used in the context of persistent deficits in social communication and social interaction across contexts appears to exclude any one with an Intellectual Disability from also being diagnosed with Autism Spectrum Disorder, since Intellectual Disability will involve exactly those deficits.  

This interpretation of the effect of Criterion A of the proposed Autism Spectrum Disorder is also supported by reference to Criterion B of the proposed A 00  Intellectual Developmental Disorder:

B.         The deficits in general mental abilities impair functioning in comparison to a person’s age and cultural group by limiting and restricting participation and performance in one or more aspects of daily life activities, such as communication, social participation, functioning at school or at work, or personal independence at home or in community settings.

It seems clear that in any case of Intellectual Developmental Disorder the mandatory ASD Criterion A, persistent deficits in social communication and social interaction, will always be "accounted for by general developmental delays" and an Autism Spectrum Disorder diagnosis will be precluded.

I am aware that  Ms Lisa Jo Rudy of autism has communicated recently with Dr. Bryan King of the NDD work group on the issue of the possible  exclusion of intellectually disabled from autism diagnoses. Dr. King provided the following response:

"There is no explicit desire to move anyone in to or out of specific diagnostic groups, however, by creating more specificity we believe that people may be given diagnoses that better capture their individual conditions. The qualifier above about general developmental delays ensures that the social communication deficits are more specific, and also potentially allows for earlier diagnosis if appropriate.

Just as typically developing infants and toddlers are able to engage in very rich social communication and interaction across contexts, appropriate to their developmental level, so too most individuals with intellectual delays or disabilities are also able to communicate. On the other hand, significant deficits in social communication in toddlers may suggest the presence of autism. What the criterion above is meant to ensure is that clinicians take into account what is typical in terms of social communication abilities at a given age or developmental level, and not assume, for example, that a lack of social perception in a teenager with intellectual disability not automatically suggest the presence of autism. As is currently the case, some individuals with Down Syndrome may also meet criteria for autism; but most will not."

The language of the proposed DSM is express and intentional. The absence of desire to remove anyone in or out of the groups does not mean that there is no intent to do so whether desired or not. It is the wording of the proposed revision that will determine future diagnoses. The exclusionary wording I have referenced is not explained in any meaningful way by Dr. King's comment. "More specific" to my humble interpretation is simply another way of saying not part of a general intellectual deficit. Which again indicates that the Intellectually Disabled will be excluded from the DSM's New Autism Spectrum Disorder.

I have commented on several occasions on my blog site Facing Autism in New Brunswick about the high numbers of persons with autism disorders who are also intellectually disabled. I  have cited sources for the pre-1994 definition of autism including CDC autism expert Dr. Marshalyn Yeargin-Allsopp who stated that those with intellectual disabilities constituted "the vast majority" of those with autism prior to the 1994 changes which added Asperger's Disorder to the PDD's.  The Canadian Psychological Association also referenced 80% of persons with non-Asperger's autism as having intellectual disabilities a figure which seems consistent with the CDC's two surveys showing 41-44% of persons with any autism spectrum disorder, including Aspergers, as having intellectual disabilities.  The 1994 changes diluted the 80% figure to roughly 40% by simply adding a group who by definition did not have intellectual disability, those with Asperger's. Now the DSM5 is poised to push the intellectually disabled off the spectrum completely and will essentially  redefine autism as what is currently Asperger's disorder.  

The DSM5  attempt to completely separate Autism and Intellectual Disability ignores the historically close relationship between those with ID  and those severely affected by autism disorder however labelled and ignores the possibility that the the ASD deficits are just components, differing in severity and expression, of intellectual disability. An Italian study has looked at the relationship between Intellectual Disability and called for more research of that relationship:

Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Hospital of Careggi, Florence, Italy.


BACKGROUND: In 1994, the American Association on Mental Retardation with the DSM-IV has come to a final definition of pervasive developmental disorders (PDD), in agreement with the ICD-10. Prevalence of PDD in the general population is 0.1-0.15% according to the DSM-IV. PDD are more frequent in people with severe intellectual disability (ID). There is a strict relationship between ID and autism: 40% of people with ID also present a PDD, on the other hand, nearly 70% of people with PDD also have ID. We believe that in Italy PDD are underestimated because there is no agreement about the classification system and diagnostic instruments.
METHOD: Our aim is to assess the prevalence of PDD in the Italian population with ID. The Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS) seems to be a very good instrument for classifying and diagnosing PDD.

RESULTS: The application of the PDD-MRS and a clinical review of every individual case on a sample of 166 Italian people with ID raised the prevalence of PDD in this population from 7.8% to 39.2%.

CONCLUSIONS: The study confirms the relationship between ID and autism and suggests a new approach in the study of ID in order to elaborate a new integrated model for people with ID."


With great respect to Dr. King and the DSM5 NDD work group I submit that the proposed Autism Spectrum Disorder wording of the DSM5 along with the Intellectual Developmental Disorder clearly operate to remove those with Intellectual Disability from the autism spectrum.  I have no way of assessing the motivation for this change with any certainty. I do not really see the explanation offered by Dr. King as providing a coherent rationale for such a fundamental change. Some critics of the previous DSM-IV changes including Dr. Allen Frances have expressed regrets about the unintended consequences that flowed from that last revision. I can really see no good coming to persons with autism and intellectual disability who will no longer be considered autistic because mandatory criterion A can be accounted for by general developmental delay.  With no intent to insult or engage in confrontation it looks more like the intent is to make life easier for doctors in making autism diagnoses without having to explore the more complicated aspects of a diagnosis when intellectual disability is present.  It also makes it easier to calm the fears of those with Asperger's diagnoses who worried about being lumped together with those with autism in the new autism spectrum disorder. What is not at all clear is how this really helps in any way  those with autism and intellectual disability.

I ask this working group to reconsider its decision to add language excluding intellectually disabled from the proposed Autism Spectrum Disorder in the DSM5.


Harold L Doherty
Fredericton, New Brunswick, Canada

Saturday, July 16, 2011

A Perfect Conor Summer Morning

No autism commentary this morning. Great weather and we headed out for a walk on the trail to the Superstore to pick up a few groceries. More than the weather though Conor was in a great mood and wanted to get out doors and stretch his legs in the fresh air. Now 15 and 6 feet tall Conor is still our Run, Jump, Fly boy, on the trail, at the wetland observation deck and at the outdoor Lawrence Amphitheatre, called the Circle Place in our house. It has been a perfect Conor Summer Morning.

Friday, July 15, 2011

Confirmation DSM-5's New Autism Spectrum Disorder Will Exclude Intellectually Disabled

I have written previously that persons who presently have autistic disorder or PDD-NOS and who are also intellectually disabled will be removed from the DSM-5's New Autism Spectrum Disorder. Whereas those with intellectual disability once constituted autism's vast majority as described by CDC autism expert Dr. Marshalyn Yeargin-Allsopp the 1994 addition of Asperger's Disorder reduced their numerical weight on the autism spectrum.  With the new DSM-5 wording has intentionally been added to the definition of autism to exclude persons with intellectual disability from autism diagnoses. To be diagnosed with autism a person must meet all 4 criteria, A, B, C and D.  Criteria A requires the presence of "persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays."  Now, an email exchange between Lisa Jo Rudy of autism spectrum disorders and Dr. Bryan King of the APA's DSM-5's Neurodevelopmental Work Group confirms that the effect of the DSM's New ASD will be to exclude at least some persons with intellectual disability from an autism spectrum disorder diagnosis:

"My Question for Dr. King

There seems to be a desire to remove people with "Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays" from the ASD category. Does this mean that a child with Mental Retardation (also called Intellectual Delays) no longer qualify for an Autism Spectrum diagnosis? Would that person wind up dually diagnosed with Intellectual Development Disorder and social communication disorder rather than with an ASD diagnosis?

His Response

There is no explicit desire , however, by creating more specificity we believe that people may be given diagnoses that better capture their individual conditions. The qualifier above about general developmental delays ensures that the social communication deficits are more specific, and also potentially allows for earlier diagnosis if appropriate.

Just as typically developing infants and toddlers are able to engage in very rich social communication and interaction across contexts, appropriate to their developmental level, so too most individuals with intellectual delays or disabilities are also able to communicate. On the other hand, significant deficits in social communication in toddlers may suggest the presence of autism. What the criterion above is meant to ensure is that clinicians take into account what is typical in terms of social communication abilities at a given age or developmental level, and not assume, for example, that a lack of social perception in a teenager with intellectual disability not automatically suggest the presence of autism. As is currently the case, some individuals with Down Syndrome may also meet criteria for autism; but most will not."

There may or may not be an "explicit desire  to move anyone in to or out of specific diagnostic groups" but the wording is being added intentionally to achieve a specific result and it is clear that the intended result is that social communication deficits be more specific that is .... not part of social communication deficits arising in cases of general developmental delay.

The DSM-5's New Autism Spectrum Disorder will add more persons on the high functioning Asperger's end of the spectrum and will reduce the numbers at the lower intellectually disabled end of the spectrum. The vast majority of the original autism described by Dr. Marshalyn Yeargin-Allsoop has been given the boot, kicked off the autism spectrum entirely, or nearly entirely.

There will be no Intellectually Disabled allowed on the DSM-5's New Autism Spectrum.

Thursday, July 14, 2011

Cure Autism? Absolutely!

Autism is a disorder. We need to find a cure, or cures, for autism disorders.

These simple points seem to escape those who perversely find joy in the fact that a child has an autism disorder. Equally irrational is the notion that society need not find a cure, or cures, for the various autism spectrum disorders. Autism, at least in its most severe manifestations, directly harms a person with autism when he or she engages in Self Injurious Behavior.  Autism has also taken the lives of those who wander away from home or place of care as appears so often in the news. Some of us have been very fortunate when our autistic children are returned to us safely. It is impossible for me as the father of a severely autistic 15 year old son to respect the opinions of those who argue against curing autism disorders.  That perspective, as I see it, is irrational at best and perverse at worst.

At Autism, Epilepsy and Self-Injurious Behavior Kim Oakley is a blogger who has previously posted a number of honest, informative Youtube videos showing her son's Self Injurious Behavior.  In the latest comment on her blog   Autistic behaviors, Antipsychotics and Angioedema: Warning she again addresses issues arising from SIB with an emphasis in this article on some medication side effects. Her son's SIB is described:

"Late June, 2011. My severely-autistic, non-verbal son had been smashing self in face and head for 3 days, despite numerous interventions to stop brutal self-injury. Protective gear was in place (karate helmet, Posey Mitts). Temporary restraints were ineffective (during this particular episode, he was so strong, broke out of restraints)."

In  Access to health Casdok of Mother of Shrek  has also written recently on her son's SIB:

"Drowning in a tidal wave. Rapidly repeatedly smashing his head hard onto a solid object trying to cause more pain to block out the pain he is already in - giving himself something to cling onto – to find his way back. This is what it looks like to me. A tidal wave of pain from what though – I don’t know. C needs investigations to rule out health issues. 

His desperate eyes boring into your heart silently screaming for you to help him. But you can’t always.

I wrote about this back in Feb. The words ‘critical ‘crisis’ ‘life threatening’ have all been used and yet C has only yesterday got to see the right Consultant who would prescribe meds and a referral to see a Neurologist. Meds might take yet another week – ‘as we are busy’."

Casdok, as I understand her writings, does not believe that autism should be cured. She is obviously a caring and dedicated mother but I can not pretend to understand how she can fight so hard to help her son deal with serious self injurious behavior on one hand, including seeking  medical treatment, and still oppose curing autism. 

Self injurious behavior and other serious challenges presented by autism are exactly what motivate the many parents of autistic children who do seek cures for their children. I wish Cadok and her son well.  I hope they do get the medical assessment  her son needs.  

For the sake of my own son, and others who are severely affected by autism disorders, I hope that the new trend in research toward understanding all of the possible causes of autism, and the decline of the autism is primarily genetic myth,  will also lead to more effective treatments and some day a cure for autism.

Tuesday, July 12, 2011

NIMH Director Thomas Insel: Study Finding Environmental Role in Autism in Line with Other Recent Observations

"These new findings are in line with other recent observations supporting both environmental and genetic contributions to ASD, with the environmental factors likely prenatal and the genetic factors highly complex and sometimes not inherited" 

NIMH director Thomas R. Insel, M.D. 

The recent twins study led by Dr. Joachim Hallmayer and Neil Risch, Ph.D., has grabbed the attention of the world's media and shaken the "autism is genetic" mindset that has dominated autism research for many years.  The reaction to the study by the autism is primarily genetic research establishment has been quick and fearful. Within just a few days attempts were underway to diminish the study design and the outcomes of the study.  Portraying the study as controversial when it is anything but is the most obvious sign of desperation by the autism is genetic establishment. 

Such efforts should be taken with a huge grain of salt and the words of Dr. Insel remembered: the autism twins study results are "in line with other recent observations supporting both environmental and genetic contributions to ASD, with the environmental factors likely prenatal and the genetic factors highly complex and sometimes not inherited."

Saturday, July 09, 2011

Autism Genetic Myth DEBUNKED!

Our understanding of autism has been impaired for over a decade by the myth that autism is primarily genetic, a myth that has now been debunked as set out in the accompanying news release from the University of California. The WOO  peddled by the "it's gotta be genetic" autism crowd is now, finally, losing ground:

Study debunks autism as primarily genetic disorder

Date: 2011-07-05
Contact: Kristen Bole
Phone: (415) 502-6397
Neil Risch
Neil Risch 
SAN FRANCISCO — A rigorous study of nearly 400 twins has shown that environmental factors have been underestimated, and genetics overestimated, for their roles in autism spectrum disorders.

The study found that the children’s environment represents more than half of the susceptibility — 55 percent in the most severe form of autism and 58 percent in the broad spectrum of the disorder — while genetics is involved in 37 percent and 38 percent of the risk, respectively.

This is the largest and most rigorous twin study to date to research the genetic component of the disorder, and tapped expertise from the UCSF Institute for Human Genetics and Stanford University — which jointly led the research — as well as from Kaiser Permanente, UC Davis, the Autism Genetic Research Exchange and the California Department of Public Health.

“Autism had been thought to be the most heritable of all neurodevelopmental disorders, with a few small twin studies suggesting a 90 percent link,” said UCSF geneticist Neil Risch, director of the UCSF Institute for Human Genetics and senior author of the paper. “It turns out the genetic component still plays an important role, but in our study, it was overshadowed by the environmental factors shared by twins.”

Findings appear in the July 2011 issue of the Archives of General Psychiatry and can be found online at

“Our work suggests that the role of environmental factors has been underestimated,” said Dr. Joachim Hallmayer, first author of the paper and an associate professor of psychiatry and behavioral sciences at Stanford University.
What exactly those environmental factors are, Hallmayer said, is the “multimillion dollar question,” but he noted that the disorder’s manifestation in very young children indicates a cause early in life and possibly during pregnancy.

Autism spectrum disorder (ASD) is a range of complex neurodevelopmental disorders characterized by social impairments, communication difficulties and restricted, repetitive, and stereotyped patterns of behavior, according to the National Institute of Mental Health. An estimated six children out of every 1,000 — or one in 166 — have some form of autism, with boys four times more likely than girls to have it. That rate is roughly 10 times the prevalence of the disorder in the 1960s, which has spurred a concerted effort to identify the source of the condition.

The twin study compared those records with California birth certificates for children born between 1987 and 2004, and identified 2,312 twins in which at least one member was affected with some form of autism.  The children were all at least 4 years old, when autism can be reliably diagnosed. Risch and Hallmayer collaborated with autism expert Lisa Croen at Kaiser Permanente and epidemiologist Judith Grether at the California Department of Public Health, which tracks autism statewide through records from the Department of Developmental Services. Hallmayer then worked with UC Davis clinical psychologist Sally Ozonoff and the Southern California-based Autism Genetic Research Exchange to conduct parent interviews and full medical and behavioral evaluations of each child, to systematically assess whether the children had autism spectrum disorder, and if so, at what level of severity.

The initial results were staggering: A boy with a fraternal (not identical) twin with autism spectrum disorder had a 31 percent chance of also having the disorder, while a boy with an identical twin with the disorder had a 77 percent chance of sharing it. In girls, the concordance was 50 percent in identical twins and 36 percent for fraternal pairs. Ultimately, the group was winnowed to 192 pairs of twins, of which 54 were identical and 138 fraternal, for statistical analysis. Since autism disproportionately affects boys, only 80 of the pairs included both sexes.

Both rates are dramatically higher than the general population, in which the overall incidence of autism is about 0.6 percent. The high fraternal rate was especially unexpected, Risch said, because fraternal twins had previously been thought to have the same concordance as non-twin siblings. Identical twins share all of their genetic material, while fraternal twins share only half, the same as any siblings. The strong fraternal-twin rate in this study is considerably higher than non-twin siblings, indicating a strong environmental component unique to twins.

“The difference between the identical and fraternal rates shows that genetics definitely plays a role in the disorder,” Risch said, noting that if it didn’t, the concordance rates would be equal among the identical and fraternal groups. “But the fact that the fraternal twins have such a high rate shows that their shared environment is contributing significantly to their susceptibility.”

Croen, who is director of the Autism Research Program at Kaiser, said the findings suggest that events during pregnancy should be a focus for future research into the origins of autism.

The research was funded by the National Institute of Mental Health, one of 27 institutes and centers of the National Institutes of Health, and by Autism Speaks.

Additional co-authors from Stanford include Jennifer Phillips, Dr. Linda Lotspeich, Sue Cleveland and Andrea Torres. Co-authors from Autism Genetic Resource Exchange include Brianne Cohen, Tiffany Torigoe, Angie Fedele, Janet Miller and Clara Lajonchere. Additional co-authors Jack Collins and Karen Smith are from the California Department of Public Health.

UCSF is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. For more information, visit