It's Still "Gotta Be Genetic" as Autism Genetic Research Re-Invents Itself Yet Again

  

National Institute of Environmental Health Sciences:  Gene-Environment Interaction: Nearly all diseases result from a complex interaction between an individual’s genetic make-up and the environmental agents that he or she is exposed to.

Genetic research has maintained a near monopoly over autism causation research dollars for many years and with that financial monopoly the belief that autism disorders are necessarily genetically caused or triggered. If holes appear in existing gene theories of autism causation the autism research world regroups and sends up a new model.  As always with autism research "its gotta be genetic" - Teresa Binstock, 1999, IGNAZ SEMMELWEISS and AUTISM: when prevailing paradigms resist change. The CBC reports on the latest model arising from the large Swedish study in Autism linked primarily to common gene variants:

"The latest research suggests genetics are the single greatest factor in whether someone develops the condition, accounting for about half of the cause.

Crucially, though, according to the study from Swedish and American scientists, most of the genes underlying autism disorders aren't beset by rare mutations, but are common variants found in the general population.  

"Although each exerts just a tiny effect individually, these common variations in the genetic code add up to substantial impact, taken together," study co-author Joseph Buxbaum, a professor of medicine at Mount Sinai medical school in New York City, said in a statement. 

That represents a change in thinking from early genetic studies of the condition, which focused on rare glitches in the DNA of people with autism disorders."

To this humble autism dad  if the genes underlying autism disorders are common variants then it suggests that something else ... dare we say it ... environmental factors might be involved.  Maybe our wizards of autism research could start actually meaning it when they talk about gene environment interaction.  Maybe they could also stop arrogantly dismissing the work done by the few autism researchers who have focused on environmental factors that might contribute to autism disorders ... people like Irva Hertz-Picciotto Ph.D., UC Davis M.I.N.D. Institute Researcher, and Dr. Joachim Hallmayer associate professor of psychiatry at Stanford University in California. Maybe they could listent to the National Institute of Environmental Health Sciences and develop a research paradigm that reflects gene environment interaction.

Wright Is Right: Autism Has Become An Epidemic

Bob Wright co-founder of Autism Speaks testified before ta US National Congress  committee and made a number of important points including what is obvious to those who are actually paying attention to autism realities: autism has become an epidemic.  The usual suspects, those autism researchers who study whatever suits them, whatever narrow issue they find interesting or can build a career around, remain in denial. The deniers have no solid evidence to support their position.  It is really quite simple. They are wrong.  Autism is an epidemic. Wright is right.

Parents and other family members with 24/7 responsibility for caring for the autistic children we love can not ignore autism realities. Many of us can see the autism epidemic and we can not redefine our children's challenges out of existence by amending the DSM every few years. (Yesterday the APA voted to accept the new DSM5 including the New Autism Spectrum Disorder that will expel many with autism and intellectual disability and complete the reshaping of Asperger's as Autism.) We can not pretend autism is not a disorder or that gee whiz autism always existed.  We are not comforted by the idle speculation that all of history's  scientific, literary and artistic geniuses are all examples of "the autism advantage".

We must deal with reality, autism reality, in all its manifestations.  Many  parents, grandparents and other family members caring for autistic loved ones can not and do not ignore the reality that autism numbers are increasing. When Bob Wright addressed a US Congressional committee and spoke about the autism epidemic he spoke a truth that is obvious to many parents, grandparents and family members: there is an autism epidemic. Autism researchers and others who do not see the autism epidemic have simply chosen not to see it. Those who deny the existence of the autism epidemic look only at one of the elephant's toes. They do not step back and see the whole elephant.

Those who deny the autism epidemic, who blame their own periodic diagnostic definition changes, diagnostic substitution, increased awareness and those imaginary autism services that make autism a must have diagnosis see only what they want to see.  They want to see a genetic explanation for autism and they refuse to consider environmental factors.  "It's gotta be genetic" and that means there is no real increase because genes don't change that quickly.

The failed premise on which the deniers excuse their repeated failure to find a gene or genes that truly cause autism symptoms or disorders is that autism is purely genetic and that the air, water, food, we consume, the toxic chemicals used in toys, clothing, jewelry, furniture and injected into pregnant women can not really have any effect on the neurological development of our children.  That reckless assumption is the kool-aid of those who deny the existence of the autism epidemic. Many parents refuse to drink that kool-aid.

The IACC pie chart above shows that genetic autism risk research receives by far the greatest share of autism risk research funding.  "Pure" genetic research receives 63% compared to 5% for environmental risk research funding.  "Epigenetic" autism risk research receives an additional 7% of autism risk research funding for a total of 70% of genetic research compared to 5% for environmental.  Gene-environment interaction research accounts for 25% of autism risk funding.   I am a humble small town lawyer and father of a severely autistic, cognitively challenged 16+ year old son.  I can not possibly be as smart as all those clever autism researchers who manipulate statistical data and call it autism research but those numbers tell me that genetic autism risk research outweighs environmental autism risk research 12 to 1.  The autism research community has produced no substantial results in its genetic autism research despite owning the autism research funding bread basket in recent decades.  No wonder many autism researchers dig in their heels and say there is no autism epidemic. An epidemic requires environmental factors and would push funding toward a more equal balance with more dollars for autism risk factor research funding and fewer dollars for their genetic studies. The negative impact that redistribution could have on their careers is obvious.

A prime example of the career influence and "its gotta be genetic" mandate on the autism research community is the example of Dr. Peter Szatmari's reaction to the CATS, California Autism Twins Study.  Dr. Joachim Hallmayer,  who was involved with the CATS study, indicated that CATS demonstrated the importance of an environmental role in autism causation with both genetic and environmental research playing significant roles.  Prominent genetic autism risk researcher Dr. Peter Szatmari, offered a different interpretation, one that I found bizarre in light of the previously existing autism emphasis on genetics alone as explaining autism:

Dr. Joachim Hallmayer:

"“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" 

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."

Dr. Szatmari has it backwards. His quote indicates a desperate effort to continue the funding emphasis on genetic autism research. He clearly reverses the importance of the CATS study by indicating that it confirms a genetic role in autism causation which, to my knowledge, is not in dispute.  In reality the CATS study,  as indicated by its lead author, Dr. Hallmayer, indicates that study points out the importance of environmental factors within the context of a shared gene environment interaction model of autism causation.

The significance of the autism research genetic obsession is substantial.  As long as the cult like belief that autism is 100% genetic persists it is easy to deny the existence of the autism epidemic.  When it is acknowledge that environmental factors are involved simple denial is no longer an option.

Dr. Jon Poling is a neurologist and father of Hannah Poling, an autistic child. He   and his wife, a registered nurse and lawyer, could not be written off as  irrational, hysterical parents when they sought compensation for his child's autism symptoms under the legislated process in the US.   His comments in a March 13, 2009 opinion column of the Atlanta Journal Constitution must be heeded by government decision makers and autism researchers in the US and Canada:

"Fortunately, the ‘better diagnosis’ myth has been soundly debunked. ... only a smaller percentage of this staggering rise can be explained by means other than a true increase.

Because purely genetic diseases do not rise precipitously, the corollary to a true autism increase is clear — genes only load the gun and it is the environment that pulls the trigger. Autism is best redefined as an environmental disease with genetic susceptibilities."

We should be investing our research dollars into discovering environmental factors that we can change, not more poorly targeted genetic studies that offer no hope of early intervention. Pesticides, mercury, aluminum, several drugs, dietary factors, infectious agents and yes — vaccines — are all in the research agenda."

We are long overdue in developing a A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities as advocated by Philip J. Landrigan, Luca Lambertini and Linda S. Birnbaum in April 2012.   Such a strategy will require a redressing of the imbalance in genetic and environmental autism risk funding as advocated by Dr. Irva Hertz-Picciotto.  

The denial of an autism epidemic arises directly from, and is supported by, the   "it's gotta be genetic" belief that has dominated autism research and autism risk research funding.  

We are living in an autism epidemic and it is time to find and address the causes of that epidemic.  The time is now! 

Autism Rising: LA Times Gets It Wrong

The LA Times has written an  ill informed, one sided, article on autism increases which misleads the public into believing that the evidence has clearly established that the entire increase in autism diagnoses over the past two decades is attributable to the 1994 DSM diagnostic manual changes, diagnostic substitution, and the hunt for government funded autism services. The article, Discovering Autism Unraveling an epidemic, can be summarized in the following paragraph from the article:


"Two decades into the boom, however, the balance of evidence suggests that it is more a surge in diagnosis than in disease."

The truth is the LA Times article publishes no reference to studies that confirm that conclusion about the alleged balance of evidence.  The LAT does refer dismissively to Dr. Irva Hertz-Piccioto who has conducted research on possible environmental causes of autism disorders.  It also offers selective quotes from a variety of other autism sources, in addition to Roy Richard Grinker, the anthropologist and father of a high functioning child with Aspergers, who has sought out all the allegedly autistic Korean children who function very well in Korean society.

What the article does not mention is the emerging consensus that autism arises not just from genetic factors, which would support the biased perspective the LAT offers, but from the interaction of genetic and environmental factors.  Nor, in dismissing Dr. Hertz-Picciotto's work, does it mention that genetic autism research has been overwhelmingly funded at the expense of environmental autism research.  Better to present positively the opinions of a biased anthropologist with an agenda then an actual autism researcher.

Dr. Bearman, a sociologist, is also quoted but not in any meaningful way. He was interviewed more fully, or quoted more fully, in an article on the National Institute of Mental Health website reporting a discussion Dr. Bearman had with Dr. Tom Insel of the IACC:

Dr. Insel: From what you know now when you add all of those together how much of the increase can you explain?


Dr. Bearman: Well that’s a complicated question, but I think we can pretty uniquely associate about a quarter of the increase from the birth cohorts from 1992 to 2001 which is a lot, to diagnostic change on the border between diagnosis and mental retardation in autism. I think we can associate about 16 percent of the increase on the other border between autism and other neurodevelopmental disorders on the spectrum: Asperger’s, PPDNOS etc. And those are largely non over-lapping components of increase, so that’s about 40 percent. I think the spacial clustering itself adds another few percent. I would say I am confident that 40 percent of the increase I think I know what caused that. That leaves a lot of increase left, 50 percent is a lot to look for still.


Dr. Insel: Any ideas about what’s driving that other 50 percent?


Dr. Bearman: Well, some is genetic. I think that the increased parental age accounts were 11 percent of the increase over this period and that’s a lot and the mechanism by which increased parental ages expressing itself I think likely largely genetic. I think the tricky part is going to recognize that it would be harder now to find that 50 percent. It would look like it should be some toxicological environment that’s shared because of the spacial clustering. Because there’s a very strong process of amplification of the understanding of autism that leads to increased diagnosis as parents learn how to recognize symptoms a very, very, small event that would transform the environment five years ago, ten years ago, even you could imagine, 40 years or 50 years ago, when the moms of children with autism now were in utero as eggs- a very small event could cascade into a larger epidemic now."

The LA Times could have checked out the web site of the IACC, the Interagency Autism Coordinating Committee which states:

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


- United States IACC (Interagency Autism Coordinating Committee)

No one disputes the obvious fact that the 1994 DSM changes increased the number of autism diagnoses.  The LAT implies though that the "science" indicates that the increase in autism diagnoses is simply a matter of diagnostic change and substitution and that environment plays no significant role in causing autism disorders. That position amounts to a confession of ignorance and/or bias by the LAT ... and a lack of concern over whether the number of autism diagnoses could be decreased if the research dollars were distributed more evenly towards research of environmental causes and triggers of autism disorders. 

Ultimate, Unchecked, Unfounded Autism Assumptions: Autism Isn't Really Increasing, It's All Genetic

".... is one of the 1 percent of children in the U.S. born with autism, a complex developmental disability that affects a person's ability to communicate and interact with others at varying degrees. Autism appears to be increasing because of the psychological testing that is available to detect it, said Ramona Puget, who earned a bachelor of arts in psychology and is the president of the Kern Autism Society, a local chapter in the national organization of the Autism Society.  ...There is no known single cause for autism, but it is accepted that it's caused by abnormalities in brain structure or function, according to the research. It is a neurological disorder that is present at birth, but symptoms may not appear until much later      "  

Lodi News-Sentinel, November 26, 2011  [underlining added -HLD]

Really? Can someone help me here?

What conclusive studies have been conducted to determine that autism is increasing because of a) diagnostic changes (last significant changes in 1994) b) increased availability of testing to detect autism c) increased social awareness d) pressure to obtain autism diagnosis to access autism services and treatment? 

If there is no known single cause for autism, or for the autisms, as other sources will often say, how do we know that autism is present at birth or that autism is not really increasing, that it is only ascertainment factors that are creating a false impression of increases in autism disorders? Some very credible sources have pointed to the likelihood of genetic environmental interaction as the source of autism disorders.  Most autism research has focused on the genetic side of the equation with little effort made to "ascertain" potential environmental causes or triggers of the various autism disorders.

So how can it be said that autism is not really increasing or that autism is present at birth?  Surely there are enough controversies in autism discussions without reviving the assumption that autism disorders are 100% genetic and are never caused or triggered by environmental factors?

Autism's Compelling Question: What is Causing Spontaneous Mutations Linked to Autism?

"One compelling question is what is causing the mutations ... The obvious conclusion one has to reach is that something environmental may well be the cause of these [spontaneous] changes in DNA"

Irva Hertz-Picciotto, autism researcher and professor of public health science at UC Davis, commenting on studies led by Matthew W. State and  Michael Wigler, showing hundreds of spontaneous mutations linked to autism, LA Times, June 9, 2011 

The gene environment interaction (GEI)  model of autism causation has been emerging over the past half dozen years. Even this humble layperson has noted the GEI model on several occasions on this blog. The "it's gotta be genetic" (IGBG) model was noted over a decade ago by Teresa Binstock. The GEI model has developed despite, or perhaps more accurately because of, the almost exclusive dedication of research dollars to  the  "it's gotta be genetic" (IGBG) model of autism causation. 

It is the failure of the pure genetic research to identify a specific genetic basis for  autism that only now is beginning to cause its adherents to doubt their faith.  It is the failure of the pure genetic model to explain autism causation beyond the existence of hundreds of spontaneous mutations that must finally make even the most determined of the IGBG school of autism causation ask ... could environmental factors be involved?  Spontaneous mutation is giving rise to spontaneous combustion as the purely genetic model of autism causation burns in the flames of failure.

Autism's most compelling question, as stated by Hertz-Picciotto: What is causing the spontaneous mutations?

Study Purports to Show Mitochondrial Dysfunction is Associated with Autism Spectrum Disorders

Image from Molecular Psychiatry

The following is a PRNewswire news release of  a study that purports to show a link to  Mitochondrial Dysfunction in Children with Autism. The actual article  Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis is available in full online at Molecular Psychiatry. I have neither the qualifications nor the ability to assess the merits of this study.  The PRNewsire announcement indicates  that genes alone do not explain cases where children have both autism and  mitochondrial dysfunction and that environmental factors such as toxins may be involved.  I assume, as an observer of the vaccine autism wars,  that the study, and its authors, will be dismissed, and demeaned in the name of science, and all that is holy. Both authors of the study have disclosed conflicts.  Study limitations are also described. The article abstract concludes that:

"Overall, this evidence supports the notion that mitochondrial dysfunction is associated with ASD. Additional studies are needed to further define the role of mitochondrial dysfunction in ASD."

Hopefully the study will actually be assessed and discussed on its merits. 

Study Shows Link to Mitochondrial Dysfunction in Children With Autism

MELBOURNE, Fla., Jan. 25, 2011 /PRNewswire/ -- According to a study published in Molecular Psychiatry by Dr. Daniel Rossignol (International Child Development Resource Center, Melbourne FL, Aid for Autism) and Dr. Richard Frye (University of Texas), children with autism are more likely to have abnormal function of a key part of the cell called the mitochondria (http://www.nature.com/mp/journal/vaop/ncurrent/full/mp2010136a.html). 

 Mitochondria are best known for producing energy for the cell from oxygen and food. Because of its role in energy production, children with mitochondrial disease are known to have dysfunction in high energy organs, such as the brain. The investigators found that 1 out of 20 children with autism have been found to have severe mitochondrial disease, compared to approximately 1 out of 10,000 individuals in the general population. In addition, the study points out that a much wider number of children with autism, possibly one-third of children with autism, might have milder mitochondrial dysfunction.

Other intriguing findings of this review included that children with autism who also have mitochondrial problems are more likely to develop relatively normally early in life and then lose previously acquired skills, and to have other medical disorders such as seizures and gastrointestinal abnormalities. The review also identified the wide array of blood markers that have been used to identify children with autism and mitochondrial dysfunction. These blood markers may help physicians identify mitochondrial dysfunction in children with autism.

The review also found that only 19% of children with autism and mitochondrial dysfunction had an identifiable genetic abnormality that could account for the dysfunction. This finding suggests that other factors, such as toxins found in the environment and other stressors, contribute to mitochondrial dysfunction in children with autism.

"Because mitochondria are central to so many cellular processes, abnormalities in many different physiological processes such as inflammation and/or oxidative stress, genetic abnormalities and exposures to toxins can lead to mitochondrial dysfunction. This suggests that mitochondrial dysfunction could be the final common disease pathway that results in brain dysfunction as a consequence of many divergent causes. This can explain how the various different physiological and genetic abnormalities and toxic exposures, which have all been linked to autism, could result in the same disease," said Dr. Frye.

www.AidforAutism.com

SOURCE Aid for Autism

Facing Autism in New Brunswick Thanks the Canadian Weblog Awards

 

Thank you to Canadian Weblog Awards for having nominated Facing Autism in New Brunswick for a 2010 CWA  and a big thank you to the jurors in two rounds of voting who selected Facing Autism as the First Place Winner in the Health & Wellness category and Third Place Winner in the Ecology & Social Justice category. I encourage readers to visit the CWA site and check out all the excellent winning and nominated blogs.

I also encourage our Canadian federal government to begin implementing a REAL National Autism Strategy.  The current National Autism Strategy is a very bad joke. Canadians with autism disorders and their families deserve much better than the patch work quilt of services that exists across Canada.  This is not a partisan issue. As yet no Canadian federal party has used the power of government to help autistic Canadians in any meaningful way. Canadians with autism disorders are Canadians too. They deserve recognition and real help from our federal government. 

I also encourage researchers, particularly in the United States, where most significant autism research is done, to continue efforts to finding causes, treatments and ... someday ... cures for autism disorders.  Autism is not just a different personality, a life style or a culture.  It is a medical disorder that restricts the lives of most affected by it.  I also encourage autism researchers in the US to contribute more funding towards environmentally focused autism research. Autism has not even remotely been explained by the total dedication of funding dollars towards genetic autism research.  The emerging paradigm recognizes autism as resulting from gene environment interaction. So it might be a very good idea to recognize the fine work done by Dr. Irva Hertz-Picciotto and her colleagues who have done so much to bring attention to the environmental side of the autism equation.

I encourage everyone .. researchers, doctors, government leaders, media "journalists", bloggers and citizens of all countries to recognize that autism is not just a childhood disorder, that autistic children grow up to become autistic adults. Many will require services in all areas of life including residential care and treatment which accommodates the challenges presented by their autism disorders.