The Environment Is Of Vital Importance - Next Time Include Elizabeth May

This blog is focused on autism disorders, very closely related conditions including intellectual disability and epilepsy.  It is about my son and the joy he brings me each day despite his serious disorders and challenges.  Occasionally it is just a celebration via pictures of the pleasure I experience each day that I live in Canada's Green City .... Fredericton.  Fredericton has been called the Green City, not because of any political party dominance under the green banner although Mr David Coon shook 'the traditional voting patterns one year ago when he was elected as an MLA in Fredericton , but because of its abundant natural growth and wildlife.  It is a beautiful green city and I love Fredericton.  Beyond these topics I don't usually touch directly on politics unless it involves advocating for autism services in  New Brunswick and federally.

I am making an exception today though.  I am asking whoever organizes future debates in this election period to include Elizabeth May in those debates. I am seriously disappointed with the "masterminds", the old boys, who decided to exclude Green Party leader Elizabeth May from the debate last night.  Obviously elections are about electing representatives including a party to form our government.  But elections are also about discussing important public issues and few public issues are as important as our environment.  The wizards that organized yesterday's leaders debate, hiding it so it could barely be found and excluding Elizabeth May did a disservice to all Canadians.  Regardless of the party affiliation for the person we vote for as MP this country can use Elizabeth May.

Elizabeth May can discuss all issues with her very sharp  and well informed mind.  But she brings an exceptionally important perspective  and presence to the discussion of our environment ... the most important issue, in my humble opinion, facing all Canadians. 

#GxE Autism Paradigm Still #MSSNG From Autism Disorders Research, Understanding

Several years ago it appeared that a new paradigm for understanding autism disorders was emerging, one which would allow greater understanding of the cause, or causes, of autism.  Historically, as was noted by Teresa Binstock, researchers, and those who fund autism research, took the view that autism has  "gotta be genetic".  By 2010 there was hope that finally the autism researchers' obsessive belief that autism is entirely genetic was giving way to the GxE (Gene Environment Interaction) model.  With the CATS study it appeared that  GxE was actually being reflected in autism studies. Since the CATS study though it appears that autism researchers and those that fund such research, including Autism Speaks, have fallen back into their old, unproven belief that autism is entirely genetic.

Autism Speaks reported on  its MSSNG web site page the results of the recent autism genome research project:  

"Largest-ever Autism Genome Study Finds Most Siblings Have Different Autism-Risk Genes

Surprising finding makes cover of Nature Medicine; study data becomes part of historic first upload to Autism Speaks MSSNG portal for open-access research

 

January 26, 2015

The largest-ever autism genome study reveals that the disorder’s genetic underpinnings are even more complex than previously thought: Most siblings who have autism spectrum disorder (ASD) have different autism-linked genes."

The MSSNG project and page reflect Autism Speak's deep embrace of the unsubstantiated belief that autism is entirely genetic.  There is no mention of the possibility that autism arises from gene environment interaction. Although there are now more and more genetic components speculated to give rise to autism disorders there is no mention of the word or concept of environmental factors or gene environment interaction as possible components of autism causation. Instead the gene researchers having failed to identify a specific cause of autism turn to an explanation that many parents, including me,  have suspected for some time ... that autism is in fact a complex group of varied disorders or symptoms;  that autism is extremely heterogenous in nature and that autism should more properly be referred to as autism(s) or autism disorders.  What the gene researchers and their funding backers at autism speaks do not seem to acknowledge is that with the varied autisms, autism disorders or symptoms being recognized and with no specific causal bases for these mulitude of genetic factors it might also be time to re-xamine or at least consider the possibility that autism might result from GxE, gene environment interaction. 

Maybe someday the "it's gotta be genetic" obsession will receive more critical analysis from autism "experts". For now though GxE is still MSSNG in the mind sets and articles of faith of autism's most prominent researchers and funding authorities for autism research.

12 Years Later: Environmental Causes of Autism Still Unexplored

"The Environment as an etiologic factor in autism: a new direction for research"  by EA London was published online by ehp, Environmental Health Perspectives, in 2000. Today, 12 years later, it remains the direction not taken as "autism research" continues down the road of genetic obsession and largely ignores environmental autism research.

Although public health authorities have paid lip service to the idea that autism appears to result from gene environment interaction funding has been overwhelmingly directed towards the gene side of the equation. The people who are much smarter than most of us, who understand things we can not possibly understand, who do not need our input as unwashed, unthinking parents of autistic children simply keep on keepin' on with their religious like belief that autism is primarily genetic.  Following is the abstract and the suggestion for new lines of investigation into environmental exposures which the US IACC, the Canadian Institutes for Health Research and other agencies involved with setting directions for autism research do not appear to have accepted. Of course the genetic obsession research has brought us a better understanding of autism causes .... hasn't it?

Abstract

Autism is one of a group of developmental disorders that have devastating lifelong effects on its victims. Despite the severity of the disease and the fact that it is relatively common (15 in 10,000), there is still little understanding of its etiology. Although believed to be highly genetic, no abnormal genes have been found. Recent findings in autism and in related disorders point to the possibility that the disease is caused by a gene-environment interaction. Epidemiologic studies indicate that the number of cases of autism is increasing dramatically each year. It is not clear whether this is due to a real increase in the disease or whether this is an artifact of ascertainment. A new theory regarding the etiology of autism suggests that it may be a disease of very early fetal development (approximately day 20-24 of gestation). This theory has initiated new lines of investigation into developmental genes. Environmental exposures during pregnancy could cause or contribute to autism based on the neurobiology of these genes.

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 & 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. 

Genetic Autism Research Has Struck Out

Genetic autism research has struck out. After decades of standing at the  plate and swinging away with public and private autism research funding genetic autism research has provided little information about the nature of autism disorders, what causes them or possible treatments or cures. It is time to change batters and bring in significant funding for environmentally focused autism research. Hopefully public health authorities, Autism Speaks and others involved with distributing autism research funding will decide to give environmentally focused autism research it's long overdue turn at the plate.  

Dr. Isaac N. Pessah, Director, UC Davis Center for Children’s Environmental Health and Disease Prevention and Professor of Toxicology reviewed and summarized the overdue need for more environmental autism research in his testimony before the US Senate Committee and Public Works:

Re: State of Research on Potential Environmental Health Factors With Autism and Related Neurodevelopment Disorders

"... Although autism risk has strong heritability, no single locus alone appears to be sufficient to account for the full clinical phenotype. Results from many genomewide autism screens indicate that potential susceptibility genes are spread across the entire genome. Recently several very rare genetic mutations, single nucleotide polymorphisms (SNPs), de novo copy number variations, and epigenetic factors that influence DNA methylation were shown to contribute complexity in the transmission of autism risk. Yet genetics alone cannot account for the majority of autism cases currently being diagnosed. There is lack of full concordance between monozygotic twins, with some estimate ranging as low as 60%, and the prevalence of ASD among siblings has been reported as high as 14%. Interactions among multiple genes are likely to contribute to various types of autism, and heritable epigenetic factors and/or non-heritable environmental exposures are likely to significantly contribute to susceptibility and variable expression of autism and autism-related traits. It is therefore likely that constellations of epigenetic and environmental factors are contributing to the increasing prevalence of ASD, a rise that cannot be fully accounted for by changes in diagnostic criteria.


There is a critical need to identify environmental factors, including exposure to xenobiotic chemicals and changes in diet that contribute to autism risk and severity. The vast majority of public and private resources has, and continues, to support work on identifying genetic impairments associated with autism risk. From these studies we have learned that genetics alone cannot predict the majority of autism cases, the patterns of impairments, severity, nor can they predict success for current treatment modalities. Moreover, we have learned that many of the molecular and cellular systems that are associated with autism are the very same ones that are the target of environmental chemicals currently of concern to human health because of their widespread use. Further research is needed on modifiable factors that contribute to causing or protecting against autism. It is accepted that autism is 'multi-factorial,' meaning that there are multiple factors that combine to impair brain development. Increased efforts to identify environmental factors that contribute risk to developing autism spectrum are therefore essential to improve our understanding of the constellations of genes that confer differential sensitivity to distinct environmental exposures during gestational and neonatal development. Such approaches will likely prove useful in defining subgroups of children that differ in susceptibility to specific types of environmental exposures that promote autism risk, severity, and responsiveness to clinical and behavioral interventions.


We know that autism prevalence continues to increase dramatically clearly implicating environmental factors in autism risk. We must identify which environmental exposures and combination of exposures are contributing to increased overall risk in the population and identify the most susceptible groups. Only by bringing together the concerted effort of multidisciplinary teams of scientists can we identify which of the >80,000 commercially important chemicals currently in production promote developmental neurotoxicity consistent with the immunological and neurological impairments identified in individuals with idiopathic autism. It is clear that their is a critical need to identify which chemicals in the environment that influence the same biological pathways known to be affected in autism. Limiting exposure to these chemicals is the only way to mitigate or prevent autism in susceptible individuals."

Autism's Biggest Scandal

Is it possible for public health authorities to re-examine their rigid assumptions about autism disorders and if so how long does it take?  Autism research funding has been absolutely dominated for decades by the assumption that autism is 100% genetic. The "its gotta be genetic" model of autism research funding was exposed over a decade ago by Teresa Binstock. At the same time public health authorities knew, or should have known, that autism is not 100% genetic; that environmental factors are involved.

The twin studies in fact pointed to the genetic environmental model of interaction as the best model for examining autism disorders in the 1990's, as the  following 1998 published abstract illustrates,  and yet purely genetic research continues to be funded at approximately 19 or 20 to 1 over environmentally focused autism research. This imbalance is a scandal.

Early environmental factors in autism Patricia M. Rodier1,*, Susan L. Hyman2
Article first published online: 7 DEC 1998

DOI: 10.1002/(SICI)1098-2779(1998)4:2<121::AID-MRDD9>3.0.CO;2-S

Abstract

Genetic and environmental influences are not mutually exclusive as causes of birth defects. Rather, both contribute to the etiology of many congenital anomalies. Recent results from studies of autism in twins argue that this is the case for autism spectrum disorders. Thus, even after the genetic causes of autism are known, it will be necessary to identify environmental factors that contribute to the expression of the symptoms. The first half of this review describes what has been learned from research on exogenous influences in autism, discussing studies of infections, inoculations, general pre- and perinatal factors, family histories, and drug and chemical exposures. The second discusses gene-environment interactions in other birth defects and the methods by which teratogens have been discovered. The role of known genetic syndromes in the etiology of autism is discussed with attention to whether their associations with the disorder are genetic or teratologic in nature. MRDD Research Reviews 1998;4:121–128. © 1998 Wiley-Liss, Inc.

This autism research imbalance in the face of certain knowledge that autism is not 100% genetic is the biggest autism scandal of all and points, at best,  to incompetent, rigid thinking by those who determine what autism research projects get which funding and which do not. At worst, this research imbalance has been part of  a deliberate attempt to direct attention away from all potential environmental causes of autism disorders whether those causes are found in vaccines, paints, plastic products including toys and jewelry or power plant emissions, all lucrative profit generating products and activities.

At least 2 decades of almost exclusive funding of genetic autism research has provided very very few tangible results. Environmental autism  research that might have uncovered causes and led to treatments and cures has not happened. It is time, it is long past time to listen to Teresa Binstock, researchers Patricia M. Rodier  and Susan L. Hyman  and others who cried out in the autism research wilderness and start seriously funding and exploring environment based autism research. It is time to listen to Dr. Irva Hertz-Picciotto of UC Davis M.I.N.D. who stated in 2009:

"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."

It is time to even out the funding and start seriously researching environmental causes of autism disorders.

It is time to end autism's biggest scandal.

Buried Alive: 3 Big Autism Related News Stories Buried at Christmas

What better time of year to  release autism news that you don't want a lazy, ill informed mainstream media to cover than Christmas with everyone, including journalists, busy with family and with news dominated by stories of old St. Nick?  Not one but three, count em THREE big stories related to autism disorders were released just before the Christmas news freeze. Three that were buried alive in the Christmas news freeze:

1) The CDC autism prevalence figures showing yet another major increase in autism diagnoses and subsequent  IACC head Tom Insel's acknowledgment that environment is a component of autism.  

2) The CDC Fourth National Report on Human Exposure to Environmental Chemicals   that measured 212 dangerous environmental chemicals in human bodies.                                                           

3) Announcement of recent CDC Director Julie Gerberding's New Job as Head of Merck vaccines division.

Former CDC director Dr. Julie Gerberding had stated a study comparing autism rates in existing vaccinated non vaccinated populations could and should be done.  It will be interesting to see if Dr. Julie Gerberding head of Merck's vaccine division agrees.

autism

The Disappearing Male: A Very Disturbing CBC Documentary

Last evening I watched a very disturbing documentary on CBC about the harmful impact on children, particularly male children, of common chemicals. It is a documentary that I believe everyone should view. As summarized on the CBC website at The Disappearing Male:

"The last few decades have seen steady and dramatic increases in the incidence of boys and young men suffering from genital deformities, low sperm count, sperm abnormalities and testicular cancer.

At the same time, boys are now far more at risk of suffering from ADHD, autism, Tourette's syndrome, cerebral palsy, and dyslexia.

The Disappearing Male takes a close and disturbing look at what many doctors and researchers now suspect are responsible for many of these problems: a class of common chemicals that are ubiquitous in our world.

Found in everything from shampoo, sunglasses, meat and dairy products, carpet, cosmetics and baby bottles, they are called "hormone mimicking" or "endocrine disrupting" chemicals and they may be starting to damage the most basic building blocks of human development."

The video can be viewed on the CBC web site:

The Disappearing Male: Trailer

The Disappearing Male: Entire Documentary

As stated, I found this documentary very disturbing and I offer no other comment than to suggest that everyone view this documentary.

autism

Autism Is A Complex Disorder, A Single Causal Mechanism Is Unlikely

There are some who believe, as an article of faith, that autism is 100% genetic.

They cling to this belief even though the fact that one identical twin has an Autism Spectrum Disorder diagnosis does not necessarily mean that the other twin will also have an ASD. For many with the "it's gotta be genetic" mindset no explanation, no study, no evidence will budge them.

For everyone else in the world though Dr. Harvey Singer of Johns Hopkins Hospital in Baltimore who, with his colleagues, has studied the effects of mice that developed autistic like behaviors after being exposed before birth to antibodies from mothers of autistic children, has some wise words to share with us. Dr. Singer is quoted in a Reuters article Mother's antibodies may contribute to autism :

"Autism is a complex disorder and it would be naïve to assume there's a single mechanism that can cause it. It's most likely the cumulative effect of several factors, including genes, metabolism, and the environment. We believe we have identified one of those factors."

I am pleased any time I see such a sensible perspective offered about autism by someone with the knowledge and credibility to have his comments be given serious weight and consideration. Here in Canada our autism research community, and our CIHR, are dominated by a small Montreal based neuroscience elite that still leans heavily towards the outdated "it's gotta be genetic" view of autism that Teresa Binstock cautioned against a decade ago. There is an Autism Research Paradigm Shift taking place ... in the United States ... if not in Canada.

Once again, I must thank our American friends for offering informed, sensible information about the nature of autism disorders, their possible causes and interventions.

autism

The CDC and the Autism Research Paradigm Shift

David Kirby has published, at the Age of Autism, a letter from an official in the Office of CDC Director Dr. Julie Gerberding in which it is stated that:

While it is important to understand if autism is affecting any group of children disproportionately, it is also important to keep in mind that there are likely multiple causes of the autism spectrum of disorders. Most scientists agree that today's research will show that a person's genetic profile may make them more or less susceptible to ASDs as a result of any number of factors such as infections, the physical environment, chemical exposures, or psychosocial components.

It is not clear from Mr. Kirby's article who the official in the office of Dr. Gerberding was that sent the email or whether that official's view represents the official view of the CDC. But it seems consistent with the autism research paradigm shift proposed by the University of Minnesota:

Autism research is poised for another paradigm shift, from an irreversible condition to a treatable disease. In the revolutionary paradigm, autism is not a rare disorder with a constant rate but frequent condition with a rising incidence. It is a combination of environmental influence and genetic vulnerabilities. It is both preventable and treatable, not by any one method but by a combination of behavioral and biomedical approaches. Autistic kids are not defective, they are sick but otherwise normal kids, and thus, recoverable.

Creating a premier center for effective treatment of autism is not as simple as adding a new wing on a hospital, purchasing the latest medical technology or creating another diagnostic center.

What is needed is a revolutionary clinical effort premised on the paradigm that autism may well be a treatable and preventable disease.

The Autism Knowledge Revolution has been marked by dramatic advances in our understanding of the structural and genetic bases of autism. The autism research paradigm shift, a shift toward investigation of the interaction of genetic susceptibility and environmental triggers may well speed the pace of that knowledge revolution.

Reactionary bloggers at the Autism Hub and Neurodiversity ideological movements will not be happy with the autism research paradigm shift but the maturing of scientific inquiry into autism, the movement past official defensiveness, may someday result in more effective treatment and cures. And those are autism realities that will be happily embraced by most parents of autistic children.

autism

Scientific American - Investigating the Environmental Origins of Autism

In Investigating the Environmental Origins of Autism Scientific American discusses whether environmental factors might be contributing factors involved in the soaring rates of autism. While the DSM diagnostic definition changes in 1994 obviously play a significant role in increasing the number of autism diagnoses it is far from accepted that they account for all or most of the incredible rise. Not everyone is prepared to acceptl without questioning; the soothing words of anthropologist Roy Grinker that there is no autism epidemic; that definition changes and social factors offer a complete explanation for the incredible rise in autism diagnoses.

Scientific American reviews, without offering conclusions, the various environmental factors that might contribute to cases of autism from the ever contentious vaccine issue to environmental mercury, pesticides, flame retardants, chemicals in common cleaning products and even greater reliance on anti-biotics. The increased attention of researchers to possible environmental causes of autism is noted. The article mentions the possibility that autism and other conditions present in children today might be a result of "environmental assault":

“Whatever triggered this current autism epidemic...autistic kids clearly need extra protection from further environmental assault,”

- nonprofit group Healthy Child Healthy World

For far too long proponents of theories of global warming were mocked even while people like US Vice President Dick Cheney were editing out of government health agency statements scientific testimony of the health effects of global warming.

It is time we investigated possible environmental causes of autism and other possible harm to our children arising from environmental decay.

autism

Study Finds Mercury Autism Link

The rancorous debates about a possible mercury autism link usually focus on vaccines and the mercury component of some vaccine preservatives. Mercury originating elsewhere in the environment is rarely mentioned as a possible causal factor for autism even though mercury is a powerful neurotoxin especiallydangerous for fetuses, babies and toddlers. A recent study by a team of San Antonio scientists may change those dynamics substantially as reported on MySa.com. The San Antonio scientists have found a statistically significant correlation between autism rates in Texas school districts and their proximity to power plants or other large industrial sources of mercury.

The team looked at mercury released from 39 coal-fired power plants and 56 industrial plants around the state and examined the autism rates from 1,040 school districts in Texas.

Researchers found that for every 1,000 pounds of mercury released into the environment, there was an overall 2.6 percent increase in autism rates in Texas school districts.

That rate jumped to 3.7 percent when looking at emissions from power plants alone. But it fell by 1 to 2 percent for every 10 miles from the source.

The study is published in the journal Health & Place.

autism

Autism's Fallacious Grinker Assumptions

1. Non-environmental factors explain some of the exponential increases in rates of autism diagnoses.

2a. Therefore non-environmental factors are responsible for the entire increase in autism diagnoses.

and

2b. Environmental factors do not and have never caused autism alone or in combination with other factors.

autism

Autism and Mercury Debate - Is the Focus Too Narrow?

I do not get too deeply involved in the blogger-internet debates over whether thimerosal causes, or contributes to autism. As a father of a boy with Autism Disorder, and a humble small town lawyer, I rely on expert sources to interpret the data and report their conclusions, and the reasoning behind their conclusions, in a way that I can follow. I do not try to "argue" the positions of the scientific researchers into submission. To date, it is my understanding that the data does not support a vaccine/mercury/thimerosal connection to autism although further research and further data could modify that conclusion.

I do read blogger and mainstream media commentary on the debate although I rarely find that these sources offer much real information and seldom depart from the "does thimerosal cause autism or does it not" dynamic. A full discussion of the issues is lacking. I have previously commented on other environmental contaminants as possible environmental causes or triggers of autism. There seems to be little consideration of the long list of environmental contaminants as possible autism causes or triggers. With that perspective, I was very interested when I found this online article discussing media coverage of the autism-vaccine debate The Wrong Debate Over Autism Why focusing on thimerosal misses a larger story in the Columbia Journalism Review.

In The Wrong Debate Over Autism Russ Juskalian, a student in the M.A. Science journalism program at Columbia University and a freelance writer, reviews media treatment of the vaccine/autism debate and suggests that the discussion may be too narrowly focussed. While acknowledging the importance of full, and continuing, investigation of the mercury and autism issue, Juskalian asks whether the intense, narrow focus on mercury has distracted from other possible environmental causes or triggers of autism:

" the whole issue of whether vaccines containing thimerosal or mercury cause autism served as a distraction from the ongoing efforts to tease apart the causes of this enigmatic disorder. That’s not to say the vaccine issue shouldn’t be covered at all, but that there are many more important—if less emotionally driven—questions related to autism that deserve further investigation.

Is autism caused by environmental factors? Can it be triggered by these factors? How does epidemiology try to solve these riddles? Are some people genetically predisposed to respond to environmental factors (like mercury)? Can we find a way to screen for these predispositions (like Poling’s metabolic condition)? What else is in our environment that poses a risk?"

Juskalian references Silent Spring by Rachel Carson and the long list of environmental contaminants that have been identified. He also mentions the recent AP information concerning the numerous pharmaceuticals in American tap water. Another relevant news item which could be added to Mr Juskalian's sources is the very recent report by Canadian Press that thirty per cent of Canadian dentists missed a voluntary 2007 target to better control how they release mercury into the environment.

It might be helpful for active participants in the mercury autism debate, and media outlets covering the debate, to read Mr. Juskalian's article, pause and ..... reconsider their approach to these issues. Neither an entrenched belief that vaccine mercury causes autism nor the equally entrenched belief of the Neurodiversity camp that there are no environmental causes of autism provide a wide enough lens to see the whole autism picture.

autism

Autism, Genetics and Environment - Study Finds Autism Immune System Link

A study reported in the January 2008 issue of Genomics, Gene expression changes in children with autism, has found that a group of genes with known links to natural-killer cells, that attack viruses, bacteria and malignancies, are expressed at high levels in the blood of children with autism when compared to children without the disorder. The study also found gene expression distinctions in children with early onset and regressive autism. The study is summarized in a digestible format on the UC Newsroom article Researchers identify gene expression profile distinctions in children with autism. Comments by the senior researcher Frank Sharp M.D. clinical neurologist, neuroscientist, and professor, department of neurology, school of medicine, indicate that the findings suggest a possible environmental role in the development of autism disorders:

"What we found were 11 specific genes with expression levels that were significantly higher in the blood of children with autism when compared to the blood of typically developing children," said Frank Sharp, senior author of the study and professor of neurology with the M.I.N.D. Institute.

"Those 11 genes are all known to be expressed by natural-killer cells, which are cells in the immune system necessary for mounting a defense against infected cells. We were surprised by our results because we were not looking for these particular genes. And while a number of studies have shown immune system dysregulation to be an important factor in autism, ours is one of the first to implicate these particular cells."

...

"What we are seeing can reflect something in the environment that is triggering the activation of these genes or something genetic that the children have from the time they were conceived," Sharp explained. "Such an immune response could be caused by exposure to a virus, another infectious agent or even a toxin.

Another possibility is that these changes represent a genetic susceptibility factor that predisposes children to autism when they are exposed to some environmental factor." He added that the current study also does not identify whether or not the natural-killer cells are functioning abnormally, which further work by M.I.N.D. Institute immunologists will reveal. "If the natural-killer cells are dysfunctional, this might mean that they cannot rid a pregnant mother, fetus or newborn of an infection, which could contribute to autism."

The study is also featured in an article by Carrie Peyton Dahlberg at sacbee.com which features several interesting comments by Dr. Jeffrey Gregg, director of molecular diagnostics for the UC Davis Medical Center who was also involved in the study. It is pointed out that both similarities and differences were found between the early onset and regression autism cases:

Children with that "regressive" autism had nearly 500 genes that were activated differently than children with "early onset" autism, Gregg and his colleagues found after examining blood samples from 61 children.

"That would suggest that those two groups are very different … and may have totally different underlying pathology," Gregg said.

Both groups, though, as well as other children with a range of symptoms called autism spectrum disorder, shared the 11 strongly expressed genes that control natural killer immune cells.

Dr. David Amaral, the UC Davis MIND Institute's research director suggested that much remains to be learned about how the genetic and environmental factors giving rise to autism interact:

It is still unclear how early those differences emerge, but other MIND Institute researchers are looking at immune differences in mothers' bloodstreams that might be predictive for having a child with autism, said Dr. David Amaral, the institute's research director.

"Things are moving really, really fast now," Amaral said, with scientists around the country working to understand the relationship of genetic and environmental factors that may underlie autism.

It seems clear from this study that environmental factors can not be ruled out in trying to understand the causes -- and potential treatments for autism. Some of the rhetoric which dismisses all genetic or all environmental factors appears to be ill founded. The Autism Knowledge Revolution is being carried out by researchers and scientists in relevant medical fields and the knowledge they are gaining appears to point to both genetics and environment as being involved in the development of autism.

autism

Autism, De Novo Genetic Mutation and Environmental Mutagens

The genetic bases of autism dominated autism news the previous week with the publication of the Chromosome 16p11.2 study in the New England Journal of Medicine and three CNTNAP2 gene study reports, Alarcón et al., Arking et al.,and Bakkaloglu et al., in the American Journal of Human Genetics respectively. Various ideological, literary, anthropological and cultural perspectives on autism make for interesting chat, and occasionally heated debate, but add little to our real understanding of autism. It is very encouraging to see our science based understanding of autism growing in such dramatic fashion.

As a lay person heavily dependent upon credible interpretations of the science though I was struck by the references to genetic mutations and de novo genetic mutations. I tried to Google my way to a basic understanding of some of these concepts and some of the references that I found helpful follow:

The Genetics Home Reference web page provides some basic helpful information that indicates that environmental factors can play a role in some genetic mutations:

Gene mutations occur in two ways: they can be inherited from a parent or acquired during a person’s lifetime. Mutations that are passed from parent to child are called hereditary mutations or germline mutations (because they are present in the egg and sperm cells, which are also called germ cells). This type of mutation is present throughout a person’s life in virtually every cell in the body.

Mutations that occur only in an egg or sperm cell, or those that occur just after fertilization, are called new (de novo) mutations. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell, but has no family history of the disorder.

Acquired (or somatic) mutations occur in the DNA of individual cells at some time during a person’s life. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed on to the next generation.

At Learn. Genetics page of the Genetic Science Learning Center of the University of Utah an explanation is provided for how mutations occur:

There are two ways in which DNA can become mutated:

1. Mutations can be inherited. This means that if a parent has a mutation in his or her DNA, then the mutation is passed on to his or her children.
2. Mutations can be acquired. This happens when environmental agents damage DNA, or when mistakes occur when a cell copies its DNA prior to cell division.

The Learn. Genetics site indicates that environmental agents that can damage DNA include ultra violet radiation and certain chemicals. On the What Causes DNA Mutations page of the site the Center provides diagrams and further explanation of both the environmentally caused mutation process and the cell copying mistake process.

1. DNA damage from environmental agents

Modifying nucleotide bases

Ultraviolet light, nuclear radiation, and certain chemicals can damage DNA by altering nucleotide bases so that they look like other nucleotide bases.

When the DNA strands are separated and copied, the altered base will pair with an incorrect base and cause a mutation. In the example below a "modified" G now pairs with T, instead of forming a normal pair with C.

Breaking the phosphate backbone

Environmental agents such as nuclear radiation can damage DNA by breaking the bonds between oxygens (O) and phosphate groups (P).

Breaking the phosphate backbone of DNA within a gene creates a mutated form of the gene. It is possible that the mutated gene will produce a protein that functions differently.

Cells with broken DNA will attempt to fix the broken ends by joining these free ends to other pieces of DNA within the cell. This creates a type of mutation called "translocation." If a translocation breakpoint occurs within or near a gene, that gene's function may be affected.

In Mutation, Mutagens, and DNA Repair Beth A. Montelone, Ph. D., Division of Biology, Kansas State University, defined mutagen as "a natural or human-made agent (physical or chemical) which can alter the structure or sequence of DNA." In addition to radiation Dr. Montelone describes four categories of chemical mutagens and provides examples of some of the better known chemical mutagens in each category:

1. Base analogs

These chemicals structurally resemble purines and pyrimidines and may be incorporated into DNA in place of the normal bases during DNA replication:

• bromouracil (BU)--artificially created compound extensively used in research. Resembles thymine (has Br atom instead of methyl group) and will be incorporated into DNA and pair with A like thymine. It has a higher likelihood for tautomerization to the enol form (BU*)

• aminopurine --adenine analog which can pair with T or (less well) with C; causes A:T to G:C or G:C to A:T transitions. Base analogs cause transitions, as do spontaneous tautomerization events.

2. Chemicals which alter structure and pairing properties of bases

There are many such mutagens; some well-known examples are:

• nitrous acid--formed by digestion of nitrites (preservatives) in foods. It causes C to U, meC to T, and A to hypoxanthine deaminations. [See above for the consequences of the first two events; hypoxanthine in DNA pairs with C and causes transitions. Deamination by nitrous acid, like spontaneous deamination, causes transitions.
• nitrosoguanidine, methyl methanesulfonate, ethyl methanesulfonate--chemical mutagens that react with bases and add methyl or ethyl groups. Depending on the affected atom, the alkylated base may then degrade to yield a baseless site, which is mutagenic and recombinogenic, or mispair to result in mutations upon DNA replication.

3. Intercalating agents

acridine orange, proflavin, ethidium bromide (used in labs as dyes and mutagens)

All are flat, multiple ring molecules which interact with bases of DNA and insert between them. This insertion causes a "stretching" of the DNA duplex and the DNA polymerase is "fooled" into inserting an extra base opposite an intercalated molecule. The result is that intercalating agents cause frameshifts.

4. Agents altering DNA structure

We are using this as a "catch-all" category which includes a variety of different kinds of agents. These may be:

• --large molecules which bind to bases in DNA and cause them to be noncoding--we refer to these as "bulky" lesions (eg. NAAAF)
• --agents causing intra- and inter-strand crosslinks (eg. psoralens--found in some vegetables and used in treatments of some skin conditions)
• --chemicals causing DNA strand breaks (eg. peroxides)

What these agents have in common is that they probably cause mutations not directly but by induction of mutagenic repair processes .

autism

Environmental Causes of Autism

One of the most succinct arguments in support of an environmental theory of autism can be found in a fact cited by autism expert Simon Baron-Cohen, Director of the Autism Research Centre, Cambridge University :

Autism and Asperger’s syndrome run in families. If there is one child who has a diagnosis on the autistic spectrum, the likelihood of another child also having a diagnosis is about 5-10 per cent, which is higher than the general population rate. Molecular genetic studies are focused on identifying the key genes that might play a role in increasing the risk of a diagnosis. 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, Freedom of Expression, TIMESONLINE, December 14, 2007

What are the unknown environmental components of autism? Mercury is the most often mentioned. Lead is another frequently mentioned environmental suspect. In Autism Can Be Treated Dr. Carolyn Dean lists these and several other possible environmental contributors to the development of autism in some persons and offers her explanation of how these substances can be contributing factors in the development of autism:

When you allow yourself to go beyond the behavioral model of autism you will find research showing that one pivotal metabolic insult to an infant who develops autism is damage to a specific kinase enzyme. In a vulnerable segment of the population, perhaps 10%, a particular gene sequence can be damaged by heavy metals (mercury in children’s vaccines or flu shots and dental amalgams in the elderly), antibiotics, alcohol, and acetaminophin. This vulnerable gene sequence is found in people who have autism and Alzheimer’s; it is the template for creating the kinase enzyme P13. Some researchers refer to this gene sequence as the Alzheimer’s gene, which is damaged early in these children by of overwhelming metabolic insults.

Why is kinase P13 so important? The body requires kinase P13 for many tasks, one of which is to help break down gluten (a wheat, rye, oats, and barley protein) and casein (a milk protein). This same enzyme allows the methylation (or biochemical modification) of certain B vitamins. Without proper methylation of B12 into methylcobalamin and folic acid into folinic acid, hundreds of functions are impaired. For example, if you don’t have methylcobolamine, your liver can’t make glutathione (a powerful antioxidant). Without glutathione the body is not able to detoxify heavy metals. The vicious cycle is complete. The heavy metal that causes the gene damage in the first place is not excreted as it should be and continues to accumulate and cause more damage. So intricate are these pathways that giving children the wrong kind of folic acid or B12 can make matters worse; consequently autism therapy must be overseen by knowledgeable parents and practitioners.

Dr. Dean is an advocate of the DAN protocol which includes behavioral treatment along with the more controversial GF-CF diet treatment. Research is genetic causes of autism has been exploding in recent years, and hopefully will continue to provide more information about autism and its causes. Hopefully too the potential environmental causes of autism, including mercury, will be fully researched and cures developed. Some parents today prefer to find joy in their child's autism but I believe that most would cure their children and give them the richer life to which most of us aspire ...... if a cure were to become available. Given the likelihood of both genetic and environmental causes of autism, working in combination, it seems likely that autism cures will involve treatment or prevention of environmental insults to children with susceptible genetic heritage. Hopefully the necessary research will be permitted to continue and will not be shut down by the next misguided, hysterical, "autism is beautiful", campaign.

Autism and the Environment - Time To Get A Grip

One of the most consistent points of controversy, amongst the many that dominate world discussion of autism issues, is the extent to which autism disorders are caused by environmental as opposed to genetic factors. Our environment today is polluted with a variety of toxic substances and we are also now experiencing a dramatic increase in diagnosed cases of autism disorders around the globe. Some of the more frequently mentioned potential culprits in influencing current autism surges are mercury and lead. We have recently seen the advancement of a unified autism theory based on genetic mutations that may also suggest environmental factors. One of the more balanced overviews of environmental influences on autism increases is that offered by Martha Herbert M.D., Ph. D., assistant professor of neurology at Harvard Medical School, and a pediatric neurologist at the Massachusetts General Hospital in Boston and Cambridge Health Alliance Center for Child and Adolescent Development.

In Time to Get a Grip Dr. Herbert presents the case that environment is involved in causing autism. In advancing this argument Dr. Herbert urges readers to look at the whole person and whole body because both genetic and environmental factors impact the whole body and not just the brain. Dr. Herbert's model of autism disorders suggests that something can be done about the challenges presented by autism deficits, at least to prevent, and possibly, repair such deficits. She also argues that it is important for everyone that we address the very serious environmental deterioration which threatens us all.

Today is Blog Action Day and the environment is the theme. For a balanced overview of environment and autism issues it is difficult to find a better source than Time to Get a Grip .

Autism and Lead Poisoning

The focus on a mercury based preservative in some vaccines has taken public attention away from other commonly found toxic substances as possible causes, or contributing factors, in at least some of the increasingly large numbers of autism diagnoses being made today in the Canada, the US, the UK and elsewhere in the world. Yesterday CBC news carried a story Excessive lead found in water of 5 Toronto schools which as the title indicates, reports on five Toronto area schools in which testing showed the water supply exceeded the Ministry of the Environment standard of 10 micrograms of lead per litre. The school district is now supplying staff and students at the 5 schools with bottled water.

The article also notes in conclusion that "Childhood exposure to lead can cause learning problems and reduced intelligence." The CBC article also contains a link to the Ontario Ministry of the Environment web page which notes that, apart from lead pipes and drinking water there are many other sources of lead in our environment including some older lead paints. As we have learned recently lead is still being found in some popular children's toys. With respect to the health effects of drinking lead contaminated water the Ontario Environment Ministry page Lead and Drinking Water - Questions and Answers states that:

How does lead in water affect health?

Young children are more sensitive to the effects of lead because they are still developing and able to absorb ingested lead more easily than adults. Long-term exposure to lead above the standards may increase the risk of subtle impairment of learning capacity and intellectual development. Pregnant women need to limit their lead intake as much as possible to protect the fetus.

In Autism and Autistic Symptoms Associated with Childhood Lead Poisoning , published in the Journal of Applied Research, authors Theodore I. Lidsky, PhD , Department of Psychobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York and Jay S. Schneider, PhD Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University College of Medicine, Philadelphia, Pennsylvania examined two case histories of children who, during periods of severe lead poisoning, developed autism or autistic symptoms.

In the abstract portion of the article the authors noted that "These cases underscore that there are multiple causes of autism and the importance of environmental influences in some cases."
Both of these children emerged from their autism diagnoses (1 autism disorder, 1 PDD-NOS) with the passage of time but with no specialized treatment. Lidsky and Schneider concluded that:

The two case histories presented here, as well as the reports of autistic symptoms in children with disorders that produce brain lesions or encephalopa- thy, indicate that there are multiple causes of autism. Further, the ability of brain infections and lead poisoning to produce such symptoms highlights the importance of environmental factors in the etiology of *autism*.

The ability of *lead* *poisoning* to induce symptoms of *autism* is also relevant to cases of preexisting pervasive developmental disorders irrespective of etiology. Such individuals have a greater propensity to engage in pica and, as a result, are more likely to become *lead* poisoned.

In such cases, *lead* poisoning can be expected not only to negatively impact neurocognitive functioning, but also to potentially exacerbate the preexisting symptoms of *autism*. Indeed, one case report describes a decrease in hyperactivity and stereotypies in an autistic child with a blood *lead* of 42 µg/dL once this level was reduced by chelation with succimer.

In June of 2007 Dan Agin discussed the possibility of lead poisoning as a major environmental factor in autism on the Huffington Post in his article Autism and Our Passion For Simple Causes and Quick Fixes. Mr. Agin's Huffington biography states that he has a Ph.D. in Biological Psychology and thirty years laboratory research in Neurobiology. He's Emeritus Associate Professor of Molecular Genetics and Cell Biology at the University of Chicago, and for the past ten years he has been editor-in-chief of the journal ScienceWeek (www.scienceweek.com), a science digest that focuses on explicating new research in the various sciences.

No one can credibly claim that autism is purely genetic or purely environmental. The unified autism theory seems to suggest that both types of factors are involved in the development of genetic mutations giving rise to autism. There is much research to be done, and much being done, on all sides in the search to understand what causes autism. We know there are major toxic substances, including mercury and lead, polluting our environment. It would be foolish to ignore them as possible causes of autism. It would also be foolish to pretend that the research on these issues is complete and that any of these toxic substances can be ruled out as causes of autism.