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. 

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 About.com 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:

"Autism and intellectual disability: a study of prevalence on a sample of the Italian population.

La Malfa G, Lassi S, Bertelli M, Salvini R, Placidi GF.

Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Hospital of Careggi, Florence, Italy. gplamalfa@videosoft.it

Abstract

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."

Conclusion:

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.

Respectfully,

Harold L Doherty

Fredericton, New Brunswick, Canada

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.

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 About.com 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.

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.

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."

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:

UC Newsroom

Study debunks autism as primarily genetic disorder

Date: 2011-07-05
Contact: Kristen Bole
Phone: (415) 502-6397
Email: kristen.bole@ucsf.edu

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 http://archpsyc.ama-assn.org/.

“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 www.ucsf.edu.

Autism & Environment Study:Genetics Only Autism Gang Running Scared, Creates Faux Controversy

Scared by althetrainer

The "it's gotta be genetic" gang is running scared over the recent twins study which confirms the pardigm shift in autism causation from 100% genetic to a gene-environment interaction model and which places much greater emphasis on the role of environmental factors, particularly perinatal and prenatal factors in triggering autism disorders.   The ink is barely dry on the paper and already  an article has appeared online at "Science" News with the headline and sub headline:  Environment blamed for autism Controversial twin study challenges idea that genes determine autism risk.

Where is the controversy?  Under the guise of science ScienceNews is helping create controversy by describing the study as controversial.  Teresa Binstock was right many years ago when she described the thinking of the public health research establishment as fixated on the view that autism has to be genetic. That view has been eroded over the last half decade by an autism paradigm shift which views autism as resulting from gene environment interaction.  The failure of the overwhelmingly genetic oriented autism research of the past decade to provide a clear genetic basis for autism causation preceded the recent studies which assign more responsibility for autism causation to environmental factors.  The "it's gotta be genetic" autism crowd is running skeeeeered. 

Autism and Environment: Dr. Szatmari Gets It Backwards

The New York Times, to its credit, understands the implications of the recent twins study in terms of its potential to shake the old boys (and girls) network that has clung to the "it's gotta be genetic" paradigm in exploring and understanding autism.  It is also clear, as the following two quotes make clear, one a comment by the NYT journalist who wrote the article  and the second by respected Canadian autism expert Dr. Peter Szatmari.

NYT Reporter Laurie Tarkan:

New Study Implicates Environmental Factors in Autism

A new study of twins suggests that environmental factors, including conditions in the womb, may be at least as important as genes in causing autism.

Autism Expert Dr. Peter Szatmari

“This is a very significant study because it confirms that genetic factors are involved in the cause of the disorder but it shifts the focus to the possibility that environmental factors could also be really important."

With all due respect to the learned, and respected, autism expert Dr. Szatmari the significance of this study is that it tilts thinking, hopefully finally, away from the established expert obsession with the belief that genetics explains autism completely.  The study is not important because it confirms that genetic factors are involved in the cause of the disorder. Dr. Szatmari has it backwards. The study  is important for the exact opposite reason ... it demonstrates the very important role of environmental factors in causing autism as subsequent quotes and comments in the NYT article assert:

"“I think we now understand that both genetic and environmental factors have to be taken seriously,” said Dr. Joachim Hallmayer, an associate professor of psychiatry and behavioral sciences at Stanford and the lead author of the new study, which is to be published in the November issue of Archives of General Psychiatry. ....... surprisingly, mathematical modeling suggested that only 38 percent of the cases could be attributed to genetic factors, compared with the 90 percent suggested by previous studies .... And more surprising still, shared environmental factors appeared to be at work in 58 percent of the cases" 

The respected Dr. Szatmari got it backwards. The 100% genetic explanation for autism has dominated official thinking for over a decade.  In the last half decade a new paradigm has been emerging which views autism as resulting from the interaction of genetic and environmental factors.  That paradigm has now clearly arrived.  Those who cling to the it's gotta be genetic paradigm will now have to be viewed as the dinosaurs they are..... unless of course they evolve very quickly and adopt the environmental-genetic interaction paradigm of autism causation.

Firefighters Find and Rescue Man With Autism Lost in Sewer System

Firefighters in Downers Grove Illinois have found and rescued a 20 year old man with autism whose parents reported that he might be lost in the sewer system.  Apparently after being notified by the family that the man might be in the sewer system the firefighters lifted man hole covers looking for the man. The article on mysuburbanlife.com, Downer's Grove Reporter, does not specify how severe the man's autism was, stating only that he was deaf,  but given the facts it is a safe assumption that he is functionally impaired by his autism disorder.  This father of a severely autistic 15 year old son  is very happy to hear of the man's safe return to his family.

No word yet on whether the very high functioning members of the Board of Directors of the Autism Self Advocacy Network who campaign, in the harsh glare of major media attention and in high level political and government institutions,  against curing autism disorders  have complained about the firefighters interference with the man's right to roam as a free ranging "autie" or "aspie".

Glenn Thibeault's REAL National Autism Strategy

In the past 36 hours I have criticized CASDA's claims to be advocating for a National Autism Strategy and to be presenting a unified national autism voice.  Lawrie Mawlam of CASDA, a conscientious and courteous individual with whom I have had the privilege of talking in recent months,  has taken some objection to my criticism and I thank her for expressing her opinions so forthrightly.   I hope though that CASDA will consider the criticisms of their efforts before rejecting them defensively.  I also ask CASDA, and any one else purporting to advocate for a National Autism Strategy to consider and support the private members bills of Sudbury MP Glenn Thibeault. The two bills express a clear and coherent National Autism Strategy that would be great benefit to autistic Canadians and their families and that is consistent with the efforts by many Canadians seeking a REAL National Autism Strategy for many years before CASDA and its constituent elements began seeking a national approach to autism.

I recommend that CASDA, Conservative MP Mike Lake,  and all others seeking a real and meaningful national autism strategy support, and encourage their members of Parliament to support, Glenn Thibeault's private member autism bills as described on Mr. Thibeault's site:

"THIBEAULT RE-INTRODUCES AUTISM LEGISLATION


2011 06 15


OTTAWA – Today MP Glenn Thibeault (Sudbury) re-introduced two Private member`s Bills designed to assist individuals diagnosed with autism spectrum disorders.


The first Bill would amend the Canada Health Act to include Applied Behavioural Analysis (ABA) and Intensive Behavioural Intervention (IBI) as medically recognised treatments for individuals living with autism spectrum disorders.


The second would create a National Strategy for individuals living with autism spectrum disorders, therefore ensuring that these individuals would receive the highest level of care, regardless of which region of Canada they live in.


“Far too many Canadians and their families are coping with autism spectrum disorders without adequate support from any level of government” said Thibeault. “Together, these two Bills would ensure that all Canadians, irrespective of where they live, have access to the most appropriate forms of care and extended health services.”

“With negotiations between the provinces and federal governments on the Canada Health Accord starting in 2014, I am calling on the Government to implement the provisions of these bills to ensure that individuals suffering from autism spectrum disorders are properly covered by the Accord.”

Autism spectrum disorders are a spectrum of psychological conditions, including autism and Asperger’s syndrome, which are characterised by an impairment of social interaction, restrictive interests and repeated behaviours. Currently, around 1 in 200 Canadians – representing roughly 190,000 Canadians - are estimated to have autism spectrum disorders. Incidence rates have been on the rise over the past decade, with the prevalence rate in children estimated to be 1 in 165.

-30-

For further information, please contact:

Alex Bushell, Parliamentary Assistant (Glenn Thibeault): 613-996-8962 or glenn.thibeault.a2@parl.gc.ca"

Autism Research Awakening: Environment Plays A Role In Causing Autism

“We have to look also at environmental factors, and from my point of view, the interaction between the genetic factors and the environmental factors ... It looks like some shared environmental factors play a role in autism, and the study really points toward factors that are early in life that affect the development of the child"

Joachim Hallmayer, MD,  associate professor of psychiatry at Stanford University in California

WebMD reports on a new study published in the Archives of General Psychiatry which  found that autism was surprisingly common in fraternal twins, despite the fact that they don’t share as many of the same genes as identical twins, suggesting that some common environmental factors might be playing as big a role in causing their autism disorders as genetics.  Dr. Hallmayer was one of the study researchers who were surprised with the result.  Is this an awakening in the autism research professions?

For some it probably is.  For others not so much.  Even this humble autism father/blogger reported an autism paradigm shift 4 years ago and I have followed it since then blogging on developments in the area of environmental causes of autism. But there are die-hards who will not be convinced, who will not change their minds no matter what. Academic careers and reputations as expert witnesses have been built promoting the view that autism is 100% genetic and that accordingly autism disorders are not actually increasing.  Reported increases of autism diagnoses are routinely dismissed as due entirely to diagnostic definition change and increased awareness.  Of course manufacturers of products from vaccines to children's toys have a vested interest in encouraging the "it's gotta be genetic" autism causation paradigm described over a decade ago by Teresa Binstock.  Many will never admit that autism could ever be caused by the interaction of environmental and genetic factors.  

CASDA National Autism Strategy Is Not A REAL National Autism Strategy: It Does Not Help Canadian Autistic Children and Adults

In looking at the National Autism Strategy information from a CASDA (Canadian Autism Spectrum Disorders Alliance) conference held in Ottawa on June 8 2011, and which I have posted following this comment,  I see that there is the suggestion for expansion of tax relief for autism families. That is certainly a specific, concrete step that will help some families with autistic children. Beyond that though I don't, with all due respect, see anything being proposed to assist autistic children, regardless of where they live in Canada, to receive evidence based effective early intervention, yes that still means ABA, a real education and for the many who will require it, decent, autism specific residential care and treatment as adults.

Early autism intervention across Canada resulted from a wave of focused determined parents advocacy which began over a decade ago. It did not result from conferences of persons building careers in politics or charitable bureacracies or attending subsidized conferences in Banff or Ottawa. 

I recommend that this organization stop pretending and start getting serious about helping with early intervention, education, adult residential care and treatment for autistic Canadians. Sorry I if sound harsh but these types of conferences, with their timid agendas,  have accomplished nothing over the past 10 years. Pretending to help is worse than doing nothing at all. It creates the illusion that something is being done when that is not the case.

Conservative government MP Mike Lake, to his credit, did provide  links to parliamentary sites if you are interested in following autism bills introduced by Sudbury NDP MP Glenn Thibeault who has been a determined advocate for a real National Autism Strategy for several years.  My final comment is to recommend to Mr. Lake and other attendees at the CASDA conferences to fight for a real National Autism Stategy as Mr. Thibeault has done along with fellow NDP member Peter Stoffer and former Liberal MP Shawn Murphy.

"In 2007, Autism Canada spearheaded the Canadian Autism Spectrum Disorders Alliance (CASDA) and today sits on the Leadership Committee. On June 8, 2011, Laurie Mawlam, the Executive Director at Autism Canada, was in Ottawa with the others on the CASDA Leadership Committee advocating for a National Autism Strategy. Please find below the notes from that meeting, including the individuals the Leadership Committee met with and a synopsis of their conversations.

  

Connor Robinson, Canada Revenue Agency

• Broadening the interpretation of existing categories of eligible expenses under the Medical Expenses Tax Credit to include more expenses often faced by families with a child with an Autism Spectrum Disorder
• Adding Autism Spectrum Disorder-related expenses to the list if eligible expenses under the Medical Expenses Tax Credit
• Clarifying the rules and procedures of the audit process                    

Lisa Belzak, Epidemiologist, Public Health Agency of Canada 

• The development and design of a National Surveillance System for Developmental Disorders, including Autism Spectrum Disorders
• The creation of a nomination committee to create an advisory committee for the National Surveillance System
• The creation of an advisory committee for the National Surveillance System

Nathalie Gendron, Assistant Director, Institute of Neurosciences, Mental Health and Addiction, Canadian Institute of Health Research 

• The current levels of funding for research in Autism Spectrum Disorders
• New developments that are in the works that should be made public shortly

The Honourable Jim Munson, Senator, Ottawa-Rideau Canal 

• Raising awareness of Autism Spectrum Disorders among Senators and Members of Parliament
• The reintroduction of Senator Munson's bill honouring Autism Awareness Day 

The Honourable Mike Lake, Member of Parliament, Edmonton-Mill Woods-Beaumont 

• Reviewed outcome from meetings of the day
• Discussed Mike playing a role in reaching out to other MPs that have a family member with an ASD, to increase the base of support for a federal ASD agenda
• Reminder from Mike that the following website permits us to follow the progress of bills related to ASD -www.parl.gc.ca
• • There are presently two bills dealing with Autism Spectrum Disorder, which are being introduced by the Member of Parliament for Sudbury, Glenn Thibeault (NDP).
• • Bill C-218: http://www.parl.gc.ca/LegisInfo/BillDetails.aspx?Language=E&Mode=1&billId=5079448
•      Bill C-219: http://www.parl.gc.ca/LegisInfo/BillDetails.aspx?Language=E&Mode=1&billId=5080253
  
  
  These meetings were an opportunity for CASDA to reinforce the importance of action on the federal level in the area of Autism Spectrum Disorders and share our vision that all Canadians with an Autism Spectrum Disorder have full and equal access to the resources that they require to achieve their full potential.
  
  
  Thank-you for joining CASDA to ensure that our vision becomes a reality. Our strong, collective voice for the Autism Spectrum Disorder community at the federal level is making a difference!

TIME Promotes Myth That Many With Autism are Highly Intelligent

In Could Amanda Knox Have an Autism Spectrum Disorder? TIME adds its influential voice to those who propagate the  myth that "many with autism are highly intelligent".

Amanda Knox is the 23-year-old American college student who was convicted of sexually assaulting and killing her roommate, Meredith Kercher, in Italy in 2007.  The TIME article makes a plausible case for the proposition that some of the evidence used to convict Ms Knox, including a forced confession, and some seemingly callous behavior, may indicate an un-diagnosed Asperger's Disorder condition rather than evidence of guilt. That possibility has become particularly important in light of revelations that DNA trace evidence used to convict Ms Knox may, after review by independent experts, be considered unreliable.  

In elaborating on the Asperger's Disorder possibility,  and explaining some aspects of Ms Knox's behavior including the confession, the TIME article states:

"like many autistic people, Knox was highly intelligent but also extremely naïve and gullible:

"She's the smartest person you'd ever know" but "dumb as a rock" when it comes to "street sense," [her stepfather said]. In conversations with her friends and family, a portrait emerges of a person with a childlike innocence. She was, as her mother, Edda, puts it, "oblivious to the dark side of the world.""

If the above quote said like many people with Asperger's Disorder", Knox was highly intelligent it might be an accurate statement.  Under the DSM-IV an Asperger's Disorder is excluded where the person has no cognitive development issues:

"E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behaviour (other than in social interaction), and curiosity about the environment in childhood."

The lack of clinically significant cognitive developmental delay does not necessarily mean that a person has high intelligence but it does leave that possibility open. The article provided no studies to indicate that many persons with Asperger's are highly intelligent.

Where the article is flat out wrong though is in stating that many persons with "autism" are highly intelligent.  That information is contradicted by the Canadian Psychological Association 2006 brief to a Canadian Senate Committee stated that:


• Cognitive impairment is present in about 80% of persons diagnosed with Autism and general intellectual functioning is most often below average.  Persons diagnosed with Asperger’s Disorder have average to above average intellectual functioning. [underlining added]


As noted above the CPA reference to autism is a reference to the autism spectrum disorders except Asperger's.

The United States Centers for Disease Control, the CDC,  has conducted two surveys which looked at the entire spectrum of autism disorders, including those with Aspergers and found that:

"Data show a similar proportion of children with an ASD also had signs of intellectual disability than in the past, averaging 44% in 2004 and 41% in 2006."

Contrary to the view, expressed by TIME,  that many persons with autism are highly intelligent, the US National Institute of Mental Health states with respect to Autism Spectrum Disorders in the section titled Problems That May Accompany ASD:

"Mental retardation. Many children with ASD have some degree of mental impairment. When tested, some areas of ability may be normal, while others may be especially weak. For example, a child with ASD may do well on the parts of the test that measure visual skills but earn low scores on the language subtests." [underlining added]

If Amanda Knox does in fact have an Asperger's Disorder, and if the Disorder casts doubt on the confession obtained from her and provides an alternative explanation for the behavior that was used to convict her then I certainly hope the issue is fully explored.  To that end TIME's powerful voice could be of substantial value in overturning a possible wrongful conviction for murder.  That would be a great accomplishment if all those developments play out as indicated.  In reaching such a conclusion though it is unnecessary for TIME to proceed by promoting the myth that many persons with autism are highly intelligent.  This myth, while pleasant for many to embrace, in fact obscures the very serious challenges faced by the vast majority of persons with Autistic Disorder who in fact are also cognitively impaired or intellectually disabled.

TIME with its great influence should be more careful in how it portrays autism, including Autistic Disorder, and the challenges, including intellectual disabilities,  faced by persons with Autistic Disorder, to the world.

Autism and Wandering: Fredericton in 2003 and Abbotsford in 2011

The story of the autistic child in Abbotsford, Brisith Columbia (1,2) removed from her home with her caring father by provincial government officials has hit a nerve with many parents of autistic children including me.  In Abbotsford the girl was removed after she wandered from her family home.  She was found, at a neighbor's safe and sound. Despite the efforts the father had taken to prevent such occurrences and despite his diligence in searching for her and contacting authorities when he realized she was missing, the child was taken from the family home and placed in government "care" by government officials.  

I agree with the teacher who commented on this case and emphasized that autistic children need stability.  Removing them from their home can be a harmful event in itself. Maybe there are other facts, not disclosed in the local news reports, that prompted the removal of this child.  In the absence of any further information though it seems clear that government officials did not act in the best interests of this autistic child in taking her from her home.

I have mentioned in commenting on the Abbotsford story that my son had also wandered from our home on a day when I was the sole adult in our house and while I was answering a business phone call.   I was thankful beyond belief that my son did not come to harm when he "got away" many years ago.   I am also thankful that authorities here in Fredericton, New Brunswick did not react in 2003 as the authorities have reacted  in Abbotsford, British Columbia  in 2011.   Following is the comment I first posted in September 2006 about the time, three years earlier, when my son left our home while I was distracted by a business phone call:

Saturday, September 09, 2006

Vigilance, Constant Vigilance

A recent tragedy in Toronto has revived some terrifying memories for me. A 12 year old autistic boy fell to his death from the 16th floor of a Toronto highrise in early May while under the supervision of a caregiver who resided at that location and who has now been charged with criminal negligence causing death. The case has prompted calls from the Autism Society Canada for national standards for caregivers working with autistic persons.

I know from personal experience the challenges of caring for autistic children and the need for constant vigilance. Three years ago I was home alone on a Saturday with my then seven year old profoundly autistic son when I took a business call on my phone. I had gotten into the habit of taking such calls while listening for my son's whereabouts. This time I got too involved in the call.


When I hung up I could not find my son. I ran frantically around the house and the yard before calling 911. I was informed that he was safe at the nearby Ultramar. He had attempted to cross a busy neighborhood street oblivious to the dangers posed by traffic. A good Samaritan had stopped and helped him into the Ultramar from where I picked him up. The man was still there, waiting to ensure my son was safe, when I arrived but at that point he turned and left without waiting for recognition, reward, or expressions of gratitude.

In my entire life I had never felt such fear, guilt, relief and gratitude. The impact of these intense feelings in one short span of time was difficult to absorb. I can literally still feel them now as I type, three years later. The lessons learned will never be forgotten.

As a lawyer I would not pre-judge the caregiver in the Toronto case - or the outcome of that case. As a parent who has "been there" I know that it is all too easy, unless we want our autistic children to live imprisoned in "safe" environments, for the unthinkable to occur. There is no training that can absolutely guarantee our childrens' safety. But, to improve the odds and reduce the incidents of tragedy, there should be minimum national training standards for those who provide care for autistic persons - parents included.