A Humble Father's Simple Autism, Intellectual Disability and Epilepsy Research Questions

I have been trying to read, and understand, literature about autism disorders since my son was diagnosed with an autism disorder almost 16 years ago. (Many would undoubtedly suggest I have far to go in development of that understanding). 

In the last few years I have begun to try and read and learn more about epilepsy and seizures, largely because of my son's apparent seizure activity confirmed by two classic grand mal seizures in the past 15 months.  An article on recent Companion of the Order of Australia recipients, recognizing accomplishments in their fields of a number of Australians included the recognition of Melbourne-based Professor Samuel Berkovic who, with a team of scientists, "discovered the first of the epilepsy genes back in 1995. Since then, they have found a number of other genes linked to epilepsy." 

In reading this article I was struck by the expression "genes LINKED to epilepsy" an expression often used to describe the results of autism disorders research results: "genes LINKED to autism" rather than discovery of genes known to CAUSE autism.  I sometimes suspected that autism researchers, who overwhelmingly conduct genetic based autism research, with very little serious research of possible environmental factors that might be involved with causing or triggering autism disorders,  were simply moving the goalposts after failing to find direct causes or triggers of autism disorders.  I have never doubted that genetics play an important role in causing autism. My concern was with the apparent exclusion of the obviously more difficult to conduct environmental based research.  

Since my son's seizure activities became very obvious I have become aware that some research indicates that seizures are frequently reported in persons with autism disorders as referenced in this abstract from a 1995 study by Rossi et al at the University of Bologna: EEG features and epilepsy in patients with autism:

"Epileptic seizures are frequently reported (4–32%) in autism. These values are higher than in the normal population of children and adolescents (0.5%). In the literature there is no uniform description of epilepsy in autism. We examined 106 patients with autistic disorder divided into three groups on the basis of presence or absence of EEG paroxysmal abnormalities (PA) and/or epilepsy including febrile convulsions (FC). Our patients presented an autistic syndrome unrelated to clear congenital or acquired encephalopathy. The prevalence of epilepsy and EEG PA was 23.6% and 18.9%, respectively. Significant differences between the three groups appeared for (i) familial antecedents for epilepsy/FC and neurologic and psychiatric diseases (P < 0.004), (ii) a different proportion between the three groups for mental retardation (P < 0.03), (iii) and EEG fast activity (P < 0.04). Our patients showed several types of epilepsy, including idiopathic forms with seizure onset after the age of 10 in 45% of cases. Seizures were mainly partial, not frequent and controllable by anti-epileptic drugs. PA were mostly focal and multifocal and in 45% of cases were typical of benign childhood partial epilepsy with centro-temporal spikes. The higher incidence of epilepsy and EEG PA is apparently not related to organic pre-, peri- and postnatal antecedents or cerebral lesions. On the contrary, genetic factors responsible for autism and epilepsy seem important in the genesis of these two disorders."

As a humble father of a son with an autism disorder, intellectual disability and seizure activities I am curious as to whether the genes that to date have been "linked to autism disorders" have been compared with those "linked to epilepsy"?  I am  not by any means pretending to have any competentcy in analyzing such information myself and I have no agenda in asking the question other than the curiosity of a father whose son suffers from autism and epilepsy symptoms.  If the same genes are "linked" to both disorders does that not help in understanding the origins and causes, perhaps the nature, of both epilepsy and autism disorders? If there are genes linked to both autism and epilepsy are they also linked to intellectual disability?  If anyone who happens on this blog can provide answers or information responsive to these questions it would be appreciated. 

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Is All Genetic Autism Research Fundamentally Flawed?

The assumption in traditional genetic expression analysis that mRNA content is similar between cells (represented by orange and black dots) does not affect the final results when the cells in fact do have equivalent mRNA content, as in Figure A. In Figure B, the cell represented by the orange dots has a significantly higher mRNA content, but when the data is normalized with the assumption that their contents are equal, the perceived response is skewed and inaccurately indicates that some of the genes are repressed (green bars). Using a standardized control, as in Figure C, eliminates the assumptions about mRNA content and presents accurate results.

Whitehead Scientists Identify Major Flaw in Standard Approach To Global Gene Expression Analysis, Nicole Giese Rura, October 25, 2012 

Autism research has been dominated for many years by the "it's gotta be genetic" mindset that has seen autism research dollars flow overwhelming toward genetic research at the expense of substantial research of environmental factors.  This dominance has been maintained despite the failure of the autism research community to find specific genes which could be said to cause autism disorders.  Much of the recent discussion has focused on gene expression.  Now a team of researchers led by Richard Young of the Whitehead Institute has identified a major flaw in traditional genetic expression analysis.  Will this flawed analysis undermine existing autism gene expression research?

The Whitehead article by Nicole Giese Rura indicates that the flaw is serious, even shocking,  that it affects a wide range of current biological research and that it may render previous research based on the flawed assumption questionable:

“The different results we saw from different methods of gene expression analysis were shocking, and led us to reinvestigate the whole process on several platforms,” says Jakob Lovén, postdoctoral reseacher in Young’s lab and co-author of the Cell paper. “We then realized that the common assumption that cells contain similar levels of mRNA is badly flawed and can lead to serious misinterpretations, particularly with cancer cells that can have very different amounts of RNA.” 

 In addition to delineating this problem, the Whitehead scientists also describe a remedy. By using synthetically produced mRNAs, called RNA spike-ins, as standardized controls, researchers can compare experimental data and eliminate assumptions about total cell RNA amounts. The remedy applies to all three gene expression analysis platforms they studied. 

Although the researchers believe the use of RNA spike-ins should become the new standard for global gene expression analyses, questions are likely to persist about the interpretations of much prior research. 

“There are over 750,000 expression datasets in public databases, and because they generally lack information about the cell numbers used in the analysis, it is unclear whether they can be re-examined in order to validate the original interpretation” says David Orlando, a scientist in the Young lab. “It may be necessary to reinvestigate some important concepts.”

Hopefully credible professionals involved in autism research will address this development promptly, indicating whether they agree with the Young Lab study, to what extent genetic autism research is affected and whether it will be necessary to reinvestigate conclusions reached by prior genetic autism research.  

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Autism Is Genetic Eh? Really?

Autism, it's gotta be genetic, even if we can't see the evidence

No one disputes that autism has a genetic link or links somewhere, now if only we can find it ............  or them.

"Researchers say they have identified gene mutations that contribute to autism in three separate studies. The mutations identified were rare and aren’t necessarily present in the parents, only the offspring, which has made finding them difficult for scientists.     [Emphasis added - HLD]

“It just goes to show how complex the genetic architecture of autism is,” says Thomas Lehner, chief of the NIMH Genomics Research Branch, which funded one of the studies and helped to create the Autism Sequencing Consortium. Together, the studies allow scientists to estimate for the first time that some 500 to 1,000 mutations are likely involved in autism, Lehner tells the Health Blog. Abstracts for the studies, which were published in Nature, can be found here, here, and here. 

The work, conducted by three separate research groups on independent patient samples, also confirms earlier research that older paternal age appears a risk factor for the condition."

Wall Street Journal Health Blog, Complex Genetic Mutations Contribute to Autism, Studies Say

Notwithstanding the lack of any specific identifiable genes directly connected  to autism disorders researchers continue to push their beliefs that autism is primarily genetic.  Actually what they are really saying is autism is a disorder found in humans with different genetic makeups for which .... however ... there is no need to devote research dollars to conducting serious environmentally focused autism research.  After all if man made toxins are involved in any way in causing or triggering autism disorders then presumably corporate profit making ventures could be put at risk.  Better to mention paternal age again and invent a new genetic paradigm to explain why, notwithstanding the lack of any real evidence, we have to believe, we must believe, that autism is genetic.  Profits depend on us being devout in our "autism is genetic" faith.  Oh and by the way autism is not really rising despite changes in estimates, in less than two decades from 1 in 500 to 1 in 88.  

The explanations for the failure to identify specific genes connected to autism are beginning to sound funny.  Or they would be funny if autism research wasn't a serious matter for those who are, or whose children are, severely impacted by autism disorders. 

While parents and researchers calling for more environmentally focused autism research are demeaned or, at best, ignored, the autism research community by and large remains unwavering in its devoutly held faith that autism is, autism has to be, genetic.

The word from the autism research community remains the same: Carry on regardless.  Carry on regardless of whether we see any evidence to support the autism is genetic belief.

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Do Genetics Play ANY Role in Causing Autism?

"Autism is linked to different genes in different people, 
and multiple genes could be involved in each affected person."
Genetic Engineering & Biotechnology News, November 1, 2011

Do genetics play ANY role in causing autism?

The view that autism is caused purely by genetics held sway for many years especially with respect to funding autism research. The "it's gotta be genetic" mindset has seen research dollars dedicated overwhelmingly towards genetic based autism research.  Research into possible environmental causes or contributors to autism has been minuscule by comparison. What have those genetic autism research dollars produced? I am a humble, irrational, distraught parent of a son with severe autistic disorder but as I read commentaries by people who know much more than I do about these subjects what I see is doubt about the role of genetics in causing autism.

Genomic Studies Are Adding to Evidence of Autism’s Highly Complex Nature, an article by Patricia F. Dimon, Ph.D.,  published November 1, 2011 on the Genetic Engineering & Biotechnology web site makes the argument that current research, like that arising from the AGRE (autism genetic resource exchange), is providing some idea of where some common underlying genetic factors involved with autism might be found but in making that argument also makes statements suggesting a limited role for genetics in causing autism disorders:

"From a biological perspective, autism presents a “profoundly complicated” array of disorders with significant genetic components and genomic alterations thought to “organize around a central theme of neural network infirmities and neuroimmunodysregulations,” according to Daniel J. Guerra, writing in the March issue of Autism Research and Treatment.

Autism is linked to different genes in different people, and multiple genes could be involved in each affected person. These genetic factors, in turn, may interact with as yet unidentified environmental factors. It is now known that new mutations show up in children whose parents do not carry the mutation. Additionally, it turns out that in cases where underlying genetic mutations have been identified, the gene abnormalities don’t necessarily predict the disorder.

“Do we really know that every time you make that mutation or you delete one copy of that gene, you cause autism?” asked John Constantino, M.D., a pediatric psychiatrist at Washington University in St. Louis, in an interview with Los Angeles Times. “We have no idea.”" (Underlining added - HLD)

How can we continue to play the "it's gotta be genetic" card of autism research, and ignore possible environmental causes or contributing factors, when genetic autism research has failed to provide any tangible results?  

After so many years of siphoning off autism research dollars has genetic research helped us understand how autism is caused or developed?

Do genetics really play any role in causing autism?

Apparently .... we have no idea.

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lbrb Blog Opposes Autism Causation Research? Why Now?

At the risk of encouraging visitors to head over to the lbrb site I feel compelled to question the  rationale for the site continuing to describe itself as being one about "autism news, science and opinion".  Frequent lbrb blogger Sullivan  states in a comment titled Upcoming IACC Subcommittee on Safety Conference Call – Wednesday, January 12, 2011 that:

"At present, much of the focus and the budget recommended by the IACC goes towards causation (with the majority of that of that going towards environment and gene-environment causation) and early childhood therapies."(Bold highlighting and underlining added for emphasis HLD.)

Sullivan appears to go on to suggest that services would be a more proper focus for autism funding. It is only now after more than a decade of  an almost exclusive concentration of funding of autism research dollars on genetic autism research that LBRB blogger Sullivan objects to autism research because the money should not be spent at all on causation?

Dr. Irva Hertz-Picciotto, who knows something about autism research as a lead autism researcher with the CHARGE study and with UC Davis M.I.N.D. Institute,  stated on the UC Davis web site in early 2009 that:

"Right now, about 10 to 20 times more research dollars are spent on studies of the genetic causes of autism than on environmental ones. We need to even out the funding."   -  (bold highlighting and underlining added for emphasis HLD)

Even NIH and IACC director Dr. Thomas Insel acknowledges that research dollars have flowed predominantly toward genetic focused autism research at the expense of environmental autism research:

"As with many complex disorders, causation is generally thought to involve some forms of genetic risk interacting with some forms of non-genetic environmental exposure. ... 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"  (bold highlighting and underlining added for emphasis - HLD)

Sullivan and LeftBrainRightBrain now sense a move toward a balanced distribution of autism research funding dollars and object to causation research receiving funding at all?  

Why now? Do they really believe that parents who actually care about finding out what  happened to our children that resulted in these life limiting disorders are going to stop asking for autism causation research to be done? Do they really think it is unimportant to find out what causes these serious disabilities and try to prevent them from arising in future or finding treatments and cures for those who suffer from autism disorders today?  Are they concerned that environmental research will find external triggers and causes of autism that might undermine the neurodiversity ideology, the autism is just a beautiful, natural variation, a different way of thinking, nonsense that they have peddled to a gullible mainstream media and some ill informed members of the public since 2003? 

lbrb is abandoning the science component of their autism blog now that the "it's gotta be genetic" autism balloon is collapsing?  Curious, very curious. 

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In 2010 the Gene Environment Interaction Model of Autism CHARGEd to the Fore

"Uncovering environmental causes of autism

CHARGE (Childhood Autism Risks from Genetics and the Environment) was launched in 2003 as a study of 1,000 to 2,000 children with differing patterns of development. The goal is to better understand the causes and contributing factors for autism or developmental delay. Three groups of children are being enrolled in the CHARGE study: children with autism, children with developmental delay who do not have autism and children from the general population. All of them are evaluated for a broad array of exposures and susceptibilities.

Refining our understanding of environment-gene interactions

Little is known about what causes autism or developmental delay. We will learn how genes and the environment interact to change children’s behaviors and skills. By studying a large number of children, we will discover which particular genes and/or environmental exposures might result in non-typical patterns of development and special subtypes of autism or developmental delay."

2010 could be known as the year that serious autism research arising from the genetic-environmental interaction model CHARGE'd to the fore with two major genetic-environmental focused autism research studies being published and receiving widespread attention.   2010 could also come to be known as  the year that  the "it's gotta be genetic" model of autism causation began its retreat from the battlefield in our attempt to understand autism causes  and seek autism cures.  Nothing can be done to retroactively counter the  time, financial resources,  attention and energies lost promoting the ill conceived notion that all autism disorders are 100% genetically based but there are now clear signs we are moving forward in our efforts to understand what causes autism disorders and real progress is being made.

Researchers involved with the recent mitochondrial dysfunction study and the proximity to proximity to highways (and air borne pollutants) study used data from the CHARGE program.  In each case the study authors are careful to report the limitations of their studies and to indicate that their studies indicate associations but do not, as yet,  identify specific causes of autism disorders. The studies  are exploratory and provide the foundation for further research.  Such studies are long overdue and are very welcome. 

A solid foundation for serious autism research has been established.  The autism research paradigm shift whispered about over  the last 3 years is now fully emerging and we are seriously studying the interaction of genetic and environmental research.  The gene environment model of autism is strongest in  California where researchers like  Dr. Irva Hertz-Picciotto, principal investigator on the CHARGE study, Dr.  Heather E. Volk  and Dr. Cecelia Giulvi use data from the CHARGE program as the basis for their research. 

The gene environment model of autism was also featured prominently at the  US Senate Committee on Environment and Public Works, Subcommittee on Children’s Health hearing entitled, "State of Research on Potential Environmental Health Factors with Autism and Related Neurodevelopment Disorders"   in August 2010. One of those who made written submission to the hearing was Dr. Isaac N. Pessah, Director UC Davis Center for Children’s Environmental Health and Disease Prevention Professor of Toxicology and a Co-Investigator with the CHARGE study.

There are signs Canada has also  begun to embrace the gene environment model of autism causation.  The York Alliance Autism Research Group includes  Dr. Dorothy Crawford,  focusing on gene environment interaction as causes of autism disorders in her research. Even the US IACC (Interagency Autism Coordinating Committee) has acknowledged, albeit somewhat timidly, the emergence of the gene environment model in understanding autism causation:

"As with many complex disorders, causation is generally thought to involve some forms of genetic risk interacting with some forms of non-genetic environmental exposure. ... 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"

I have bold highlighted the last quoted statement from the IACC because it confirms exactly what has been said about autism research funding by autism researches from Dr. Teresa Binstock to Dr. Irva Hertz-Picciotto. Funding dollars have gone overwhelmingly toward genetic based autism research at the expense of environment autism research and that imbalance must be corrected.  Hopefully, as the gene environment model continues to gain ground amongst scientists involved in autism research that imbalance will also be corrected by funding authorities from government agencies to Autism Speaks.

It is time to CHARGE ahead with the gene environment interaction model of understanding and researching autism disorders. 

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Autism Speaks Supports More Environmental Research? Terrific! Now Please Help Even Out the Funding

Right now, about 10 to 20 times more research dollars are spent on studies of the genetic causes of autism than on environmental ones.

We need to even out the funding.

Dr. Irva Hertz-Picciotto, UC Davis M.I.N.D. Institute


I have been a  supporter of Autism Speaks over the course of its brief existence. I appreciate the media savvy and political skills of its leadership. The World Autism Awareness Day that it assisted in bringing into existence is, in my humble opinion, a great accomplishment in itself.  The connections and skills of Autism Speaks leadership have been very impressive in bringing in people and events who, by themselves command attention, from NASCAR to Jerry Seinfeld, people and events that are seen and heard focusing on autism.  Well done, very well done.

I have though been concerned, rightly or wrongly, about  what I thought was a  subscription by Autism Speaks to the "it's gotta be genetic" mindset which has dominated autism research  and hindered  progress in understanding autism disorders and developing treatments and cures.   I was pleasantly surprised when I received from Jane Rubenstein of Rubenstein Communications Inc. the Autism Speaks statement  "HEARING ON STATE OF RESEARCH ON POTENTIAL ENVIRONMENTAL HEALTH FACTORS WITH AUTISM AND RELATED NEURODEVELOPMENT DISORDERS U.S. Senate Committee on Environment & Public Works, Subcommittee on Children’s Health".   In the statement Autism Speaks Chief Science Officer Dr. Geri Dawson states unequivocally Autism Speaks endorsement on the need for more environmentally based autism research:

(NEW YORK, N.Y., August 4, 2010) – Autism Speaks’ Chief Science Officer Geraldine Dawson, Ph.D. emphasized the importance of research on environmental risk factors for autism spectrum disorders as the U.S. Senate Committee on Environment & Public Works, Subcommittee on Children’s Health convened a special hearing yesterday on potential environmental health factors associated with autism spectrum disorders (ASD) and related neurodevelopmental disorders. The hearing examined the latest research on potential environmental factors that may increase the risk for autism spectrum disorders.

As this hearing reviewed studies funded by the Environmental Protection Agency and the National Institute of Environmental Health Sciences on environmental factors associated with autism, including toxins and other factors that can influence brain development, Dr. Dawson reiterated that it is important to remember that, “Although genetic factors clearly contribute to the causes of autism, we also need to understand environmental factors and their interactions with genetic susceptibility.”

Dr. Dawson's statement  includes examples of  what appear to be impressive  initiatives undertaken by Autism Speaks in support of environmental autism research.  The links to review these initiatives can be found on the Autism Speaks web site, science section.  What isn't clear is the level of financial commitment to environmental autism research compared to genetic research.  Does, or will, Autism Speaks commit to balanced funding of environmental and genetic autism research as called for by Dr. Irva Hertz-Picciotto of the UC David MIND Institute?

If I have wronged Autism Speaks with my perception of an imbalance on its part in favor of genetic over environmental autism research I would genuinely appreciate being notified of my error. If that is the case then I will apologize but would humbly and respectfully ask Autism Speaks to use its proven and impressive communication skills to convince public health funding authorities to follow the approach recommended by Dr. Hertz-Picciotto. 

Much valuable time has been lost with the autism is genetic obsession.

Balanced funding of environmental and genetic autism research is needed now, not tomorrow.

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The Purely Genetic Model of Autism and My Westmorland Street Bridge Knock Out

Yesterday I suffered a concussion. While taking pictures I slipped and fell and was knocked out for a few minutes on the Westmorland Street Bridge in Fredericton . I had received a very good whack on the back of my head.  On coming to I immediately checked ... my camera was OK. After walking further to the Second Cup  for a coffee I called home and Heather recommended I get checked out at the DECH, the Doctor Everett Chalmers Hospital, which I did. The pictures above are of the WS Bridge and some of the pictures   I took immediately before my fall.

Today, with a slight headache,  I was thinking about the incident and while I was knocked out I don't think I suffered any great damage. Another person though, not blessed with such a thick skull, might have suffered more serious injuries.    My fall on the bridge makes me think again of the view that autism is purely genetic, the view that has dominated autism research funding models and neurodiversity  autism ideology over the past decade. It is a view which excludes any reference to external, environmental factors in causing or triggering autism.  Autism is inherited, end of story.

According to the "it's gotta be genetic" mindset  no external factors be they vaccine ingredients, power plant emissions, drinking water contaminants, plastics components, or the ingredients in the children's toys and jewelry that are all around us could possibly be involved in causing autism disorders. This grand assumption flies in the face of the fact that in some cases an identical twin will have an autism disorder while the other does not. It flies in the face of the fact that  people are genetically and biologically different in their ability to absorb external shocks.  One guy can take a punch, even a knockout,  and get back up and fight, or play hockey or football, another is out of the game. One guy can slip on ice and be rendered unconscious but get up and be none the worse for wear beyond a good headache the next day. Another might not recover so well.   One child has a preexisting mitochondrial disorder that renders her vulnerable to vaccine delivered shocks, another does not.

That "it's gotta be genetic view" of autism identified by Teresa Binstock 10 years ago is slowly giving way to the more likely and common sense based view that autism, like most conditions in life, good or bad,  results from the interaction of genetic and  environmental factors.  Even the IACC and Dr. Tom Insel are grudgingly beginning to acknowledge that likelihood and to acknowledge the need for increased funding of environmentally focused autism research.

We have reason to hope that the "it's gotta be genetic", frozen view of autism  will soon  be thrown off the research funding bridge ... or at least suffer a serious slip and fall. Hopefully 2010 will be the year that   environmentally focused autism research gets up on its feet and we begin to understand all the factors that cause or trigger autism disorders.

autism

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Autism and ScienceBlogs: Dr. Gorski Replies, Sort Of

Alleged science blogger Dr. David H. Gorski is at it again lashing out at anyone who disagrees with his views, and hurling ad hominem attacks. Once again Dr. Gorski  demonstrates no knowledge of autism disorders while commenting, albeit indirectly, on autism causation.

Dr. Gorski displays poor research skills  by describing me as an Age of Autism hanger on which is quite funny because I have over the years often disagreed with views posted on that site. A year ago I questioned Kent Heckenlively of Age of Autism about his apparent endorsement of the ACE Pathway investigation one of several critical posts  I made about ACE Pathway which I viewed with concern.

If Gorski actually read anything on this site he would know that I advocate for evidence based interventions and services for autistic children and adults and have done so for a decade along with other parents, and with some real results, in my home province of New Brunswick, Canada. In our autism advocacy efforts studies and reports by  American health and science experts on autism were the foundation of our efforts. They were invaluable. Dr. Gorski's name was not amongst those that I have encountered over the years as having any expertise on the subject of autism.

I never used to accept that vaccines played any role in causing autism.  I have  moved from agreeing with the view  that there was no merit at all to the vaccine causes autism theories to accepting that the issues arising from the injection of vaccines into children and pregnant women have not been "determined for all time" and may trigger autism in some vulnerable predisposed children.   My move toward an open mind on these issues was prompted not by the Age of Autism but by Dr. Healey, Dr Poling and even Dr. Julie Gerberding, the soon to be Merck vaccine division head and former CDC director. Dr. Gorski would know this if he actually read this site before slinging mud.

Dr. Gorski, apart from failing to demonstrate any knowledge of autism in his new commentary, also tried to reduce my views, and the views of many others, about potential environmental causes of autism to the vaccine issues.  He does so  no doubt because it is easier to attack people who question vaccine safety than those who question the impact of environmental chemicals generally on the neurological development of children. Dr. Paul Offit has led a very successful campaign to whip the mainstream media into condemning people who question vaccines as fringe, hysterical extremists.  It is more difficult for Gorski, or Offit for that matter, to argue that it has been "scientifically proven for all time" that there are no environmental causes or triggers of autism.

I don't know if Dr. Gorski is aware of the recent CDC study which measured and reported on 212 toxic chemicals found in our bodies today,  a list which included mercury, lead, aluminum, arsenic and many other goodies.  Like the autism prevalence study and the Gerberding move to Merck announcements, this study too was "publicized" in the pre-Christmas period when most people, and especially the mainstream media, are busy with family and Christmas.  With so many toxic chemicals in our bodies, with rising incidence of autism disorders in our children it is not just unscientific to assume that these chemicals are not involved with causing autism disorders ....  it is foolish.

My lay person's understanding of science is based on the notion, perhaps naive, that issues are not "decided for all time".  I am now in the undecided camp about vaccines and autism and suspect that in some instances vaccines may trigger autism disorders, and other neurological damage, in some children.   I believe that more study should be done on this issue.  

And I believe very firmly that the imbalance in funding of autism research must be shifted from the near 100% funding of genetic based autism research to a  model which provides equal funding for environmentally focused autism research. 

I hope that the ScienceBlogs bloggers abandon cheap personal attacks on those who question vaccine safety and offer ... some real science.   I hope they live up to their claim of being science bloggers ... at least when they are discussing autism disorders.

autism

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Environmental Autism Research Study Follow-Ups? Let's Even Out Genetic and Environmental Autism Research Funding

Right now, about 10 to 20 times more research dollars are spent on studies of the genetic causes of autism than on environmental ones.

We need to even out the funding.

Irva Hertz-Picciotto, UC Davis M.I.N.D. Institute Researcher

Recent years have seen the "it's gotta be genetic" stranglehold on autism research funding identified by Teresa Binstock in 1999 break slightly, albeit ever so slightly, with genetic research still overwhelmingly favored for funding purposes at the expense of environmental autism research as reflected in the above quote from Irva Hertz-Picciotto. The obvious danger is that if you look for genetic causes you will find genetic causes and nothing more. If you do not look for environmental causes of autism then those environmental causes will not be found. Possible preventive measures may never be discovered and undertaken and even cures may be missed.

Two studies of particular interest to me were published in the last two years with the authors of both studies qualifying their conclusions with the caution that more research was required, more follow up needed to be done before any firm conclusions could be reached.

The authors of Proximity to point sources of environmental mercury release as a predictor of autism prevalence, Raymond Palmer, Stephen Blanchard and Robert Wood, found that "environmentally released mercury from power plants in 1998 is significantly associated with autism rates in 2002. For every 1000 pounds of release there is a corresponding 3.7% increase in autism rates." The authors also found that "for every 10 miles away from the source, there is a significant 1% decrease in the autism Incident Risk. A 20-mile distance would yield a 2.2% decreased risk."

Palmer, Blanchard and Wood were careful to point out that their study should be viewed as "hypothesis generating" with further research required to examine the role of environmental mercury and childhood developmental disorders. The authors pointed out other existing research related to environmental mercury and autism disorders:

"a host of other plant, animal and human studies have demonstrated that distance to sources of environmental mercury exposure are related to increased body burdens of mercury(Ordonez et al., 2003; Fernandez et al., 2000; Hardaway etal., 2002; Navarro et al., 1993; Kalac et al., 1991; Moore and Sutherland, 1981). However, the effects of duration and dose amounts of environmental exposures are not currently known—and we do not know that body burden of mercury is in fact related to the potential exposure measures used in these analyses.

Mercury is a known immune modulator (Moszczynski,1997). These effects include the production of auto antibodies to myelin basic protein (El-Fawal et al., 1999) and effects on the ratio of Th1/Th2 immunity factors (Kroemer et al., 1996). This is consistent with the literature demonstrating similar types of altered immune function in autistic children (Singh et al., 1997; Singh and Rivas, 2004; Krause et al., 2002; Cohly and Panja, 2005; Vojdani et al., 2003).

I previously blogged about a study noted in the Toronto Star concerning the effects of pollution from two Hamilton, Ontario steel mills on mice living down wind from the mills. The study Germ-line mutations, DNA damage, and global hypermethylation in mice exposed to particulate air pollution in an urban/industrial location was published in PNAS :

"Mice breathing the air downwind from Hamilton's two big steel mills were found to have significantly higher mutation rates in their sperm, a new Health Canada-led study says.

While there's no evidence that residents of the area are experiencing the same genetic changes, the project's lead author says the findings do raise that question.

"We need to do that experiment and find out," said Carole Yauk, a research scientist with Health Canada.

A future study will look at "DNA damage in the sperm of people living in those areas."

...

Dr. Rod McInnes, director of genetics at Canadian Institutes of Health Research, said the mice could be "the canary in the coal mine" signalling the genetic risks to humans of breathing toxic air. ... While genetic changes in sperm would not affect a male directly, they'd get passed on to the offspring that receive his DNA.

Why did this particular story grab MY attention? We lived on Leominster Drive, in the westerly area of Burlington adjacent to Hamilton for 12 months prior to Conor's conception and a further 9 months until he was born at the Joseph Brant Memorial Hospital in Burlington. Two years later he was diagnosed with PDD-NOS, shortly thereafter changed to Autistic Disorder with profound developmental delays.

No, I have not jumped to any rash conclusions concerning the Hamilton steel mills study but I would certainly be interested in any follow up studies done or planned as suggested by lead author and Health Canada research scientist Carole Yauk Ph. D., who stated that an experiment needed to be done to find out whether residents living in the area would suffer the same consequences. I actually emailed Dr. Yauk and asked about the prospects for the follow up study she had indicated needed to be done. She said she was optimistic that funding would be obtained but that such experiments were very expensive and obtaining grants was very competitive. I don't know if Dr. Yauk was ultimately successful in obtaining funding for her experiments. Hopefully the funding was found.

How about it Autism Speaks? Can you chip in to provide funding for some badly needed environmental autism research?

In the opinion of this humble autism dad it is long past time to shift some of the research funding from the overwhelmingly genetic oriented autism research to environmental based research.

20 to 1 doesn't sound right. Equal parts, 1 to 1, genetic to environmental autism research sounds a whole lot better.

autism

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