Conor, Autism Disorders and Traffic-Related Air Pollution

Photo by Harold L Doherty, Toronto, CN Tower, 2008

Conor Doherty, 1 Day Old, February 20, 1996 

Joseph Brant Memorial Hospital, Burlington

Photo by Dad

A new study Traffic-Related Air Pollution, Particulate Matter, and Autism published online in the JAMA Archives of General Psychiatry examines the relationship between traffic-related air pollution, air quality, and autism.  The study researchers found that Children with autism were more likely to live at residences that had the highest quartile of exposure to traffic-related air pollution, during gestation and during the first year after birth compared with control children.  In the study abstracts the researchers concluded:

"Exposure to traffic-related air pollution, nitrogen dioxide, PM_2.5, and PM₁₀ during pregnancy and during the first year of life was associated with autism. Further epidemiological and toxicological examinations of likely biological pathways will help determine whether these associations are causal."

Autism Speaks has issued a news release which comments on the study report: 

"Despite an increase in research and funding, “we have not yet fully described the causes of ASD or developed effective medical treatments for it,” Dr. Dawson writes. “[This issue’s] articles point to an urgent need for more autism funding. We especially need more research on prenatal and early postnatal brain development in autism, with a focus on how genes and environmental risk factors combine to increase risk for ASD.” .....  Research presented in this issue reports a three-fold increase in autism risk associated with exposure to high levels of traffic-related air pollution during pregnancy and the first year of life. The study’s lead author, Heather Volk, Ph.D., M.P.H., is the recipient of an Autism Speaks research grant to study autism risk and gene-environment interactions involving air pollution." [Bold, underlining added -HLD]

The possible association between autism and traffic related air pollution is of specific interest to me.  We were living in Burlington, Ontario when my wife Heather was pregnant with our now 16+ son Conor who has severe Autistic Disorder.  We moved back to Fredericton, New Brunswick 4 months after Conor's first birthday.  Burlington is located between Hamilton and Toronto, Ontario off the Queen Elizabeth Highway, the QEW, which runs between those two cities. It is  one of the busiest automobile traffic areas in Canada. 

Like the study's careful authors I do not jump to any definite conclusion about the the traffic related air condition as a cause of Conor's autism.  I do strongly suspect the combination of environmental pollutants in that area MAY have been factors in causing or triggering autism in Conor.  In addition to heavy auto traffic Burlington is also adjacent to Hamilton with steel mills that emit considerable air pollution as was described in  a study I commented on in 2008 in Autism, Environment and Genetic Mutations: Hamilton Steel Mills and Conor's Autism Disorder. including references to a study Germ-line mutations, DNA damage, and global hypermethylation in mice exposed to particulate air pollution in an urban/industrial location and a Toronto Star article which reported on the story:

"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. The story reports on a study indicating that the mice living under the Burlington skyway downwind from 2 Hamilton steel mills and breathing the air from those mills for a period as short as 10 weeks were found to have significant sperm mutations."

I was interested enough in the Hamilton steel mill's air pollution study that I contacted Dr. Yauk referenced in the Toronto Star article quoted above. Dr. Yauk was kind enough to reply to my email in some detail:

"Dear Mr. Doherty,

I'm very sorry to hear of your son's autism. Certainly many of the chemicals emitted from the steel industry into the air are highly mutagenic. There are numerous sources of mutagenic chemicals in that evironment (emissions from the cars/trucks on the QEW will be high as well), and we have definite plans to follow-up our earlier results. At the moment, we are applying for funding to continue the research. There will be 2 arms of work: one on mice to try to look at a full panel of potential health effects and causative agents, and the other will begin to look at DNA damage and changes in sperm from men living in the area. One of the things that I would like to investigate is whether there is evidence of large rearrangements and gains and losses in DNA regions in mice breathing air in that environment. These types of mutation have been shown to be associated with autism in an earlier study from another group (and various

other types of diseases). However, these experiments are extremely expensive, and we have not been successful in obtaining funding as of yet (it is very competitive these days to get grants). Hopefully we'll have some success soon - I am optimistic as we have an outstanding panel of investigators on the project from McMaster University, McGill, and Health Canada.

Thank you for your interest. Please feel free to email me again in the  future.

Best regards,

Carole

Carole Yauk, Ph.D.

Research Scientist, Health Canada

Adjunct Professor, Carleton University

Associate Editor, Environmental and Molecular Mutagenesis.

Environmental Health Centre"

The gene environment model of autism causation has gained ground in recent years. Autism Speaks deserves some credit for this advance with its more balanced funding of genetic and environmental studies.  

Scientists like Dr. Carole Yauk, Dr. Irva Hertz-Picciotto, Dr. Heather Volk, Dr. Philip J. Landrigan and Dr. Linda Birnbaum are the people advancing our knowledge of possible causes of autism disorders.  This father of an autistic son  salutes them and wishes them well in their never ending efforts to enhance our understanding of the environmental factors contributing to the very real autism crisis confronting our children. 

Autism Rates Reach New Epidemic Levels? Round Up the Usual Suspects!

"The usual suspects

The people habitually suspected or arrested in response to a crime. The phrase is usually used in regard to scapegoats rather than actual perpetrators of the crime in question.

This expression has a specific and unambiguous origin. It was spoken by Captain Louis Renault, the French prefect of police, played by Claude Rains in the 1942 U.S. film Casablanca. The context was a scene in which the Nazi, Major Strasser is shot by Humphrey Bogart's character, Rick Blaine. Renault was a witness to the shooting but saves Rick's life by telling the investigating police to "round up the usual suspects"."


-The Phrase Finder

CDC Director Dr. Thomas Frieden, playing the part of Captain Renault from the film classic Casablanca, rounds up the usual suspects as the CDC announces stunning new autism rates in the US of 1 in 88 children, 1 in 54 boys:

"DR. THOMAS FRIEDEN, director, Centers for Disease Control and Prevention: 

There are a few things that we know for certain and there are some things that we don't know. And we always want to be up front about what we do and don't know.

We know for certain that doctors are getting better at diagnosing autism. We also know for certain that communities are getting better providing services to children with autism and that at CDC we've gotten better at tracking all of the children in a community who may have been diagnosed or identified with autism.

So we know that some of the increase is certainly because we're detecting more cases of autism. Whether that's all of the increase or not, we simply don't know. But we do know that there are many children with autism and that many of them need services and that diagnosis is often too late.

So whether this is a real increase or not is really secondary to saying that this is a big problem, lots of people are out there who need services and would benefit from services."

There is no dispute that diagnostic change, increased awareness and better detection probably explain some of the repeated and astonishing increases in autism diagnoses.  There is, however, no definitive study, or group of studies, which assigns 100% responsibility for the pre-2012 increases entirely to these factors.  There is absolutely no credible basis for anyone to state that the recent increase from 1 in 110 to 1 in 88 over a period of a few years is entirely attributable to diagnostic and social factors.  

Autism research funding has historically been directed overwhelmingly towards genetic autism research.  Only in recent years has any significant support been provided for environmental causes or triggers of autism, causes and triggers which might, and probably are, involved in these stunning increases in the numbers of children diagnosed with autism.  

The safe route to take in the face of such astonishing numbers is to invest more monies in treatment, education and residential care of those affected by autism disorders and to invest substantially more research dollars in exploring the environmental causes of autism disorders.  We must search for all the possible suspects as we try to determine what is causing the epidemic of autism disorders that increasingly affect more and more of our children.  

Why Autism? An Excellent Question

"at this moment some one with autism is being born, the question is W H Y"

Kevin Fox, UK autism dad, posted on facebook

Hopefully, some day in the not too distant future, researchers and public health authorities will ask themselves the question Kevin Fox asked on facebook. WHY autism? Simply assuming that autism is 100% genetic is not science. It is long past time for the "it's gotta be genetic" mindset identified by Teresa Binstock in 1999 to be put aside and research conducted to understand all of the causes and triggers of autism - genetic, biological and environmental. If those causes or triggers include vaccines or vaccine ingredients then so be it. This parent, and most parents, want to know why their child has an autism disorder. With numbers of autism diagnoses rising society has an interest in knowing W H Y.

Why autism is a question which remains unanswered. Public health authorities and researchers who are afraid to explore all possible answers to that question for fear that the answer might point to vaccines, or to industrial products, should step aside and let real scientists and researchers, those with open minds and without conflicts of interest weighing them down, do the necessary research to answer it.

Why autism? Let's get busy and answer that excellent question.

autism

Baron Cohen on Autism Causes: Autism Must Involve Environmental as Well as Genetic Factors

This autism causes quote of the day is dedicated to my Neurodiversity blogger friends at lbrb and autism.change.org. It is part of a polite email exchange between Dr. Baron Cohen and Anne Dachel at Age of Autism:

I completely agree that autism must involve both environmental as well as genetic factors (a point that nowadays hardly contentious).

Dr. Simon Baron Cohen, Age of Autism, Dr. Baron Cohen Responds

autism

Translating Autism: An Autism Research Blog - Check It Out

A member of the Autism Awareness Facebook group posted about this autism resource blog Translating Autism: An Autism Research Blog. It is an informational blog intended to rapidly disseminate the latest scientific findings related to the nature, causes, & treatments of autism spectrum disorders.

The host of the blog claims to be a clinical psychologist and neuroscience researcher working at a large Midwest child psychiatric institute but is not an autism specialist. His/her name is not published on the site although it is available by email. The host also indicates that he/she is not a proponent of one cause over another, one treatment over another, one philosophy over another and takes no philosophical position simply translating research findings into applicable and useful information that could help parents, teachers, clinicians, and consumers make better informed decisions.

Looks like Translating Autism could be a valuable resource for anyone with an interest in autism.

I urge everyone to check it out.

autism

Autism Quote # 4 - The Most Accepted Hypothesis For Autism

We show that if Cdk5 fails to facilitate CASK, then there is a very profound defect in synapse formation, .... The most accepted hypothesis for autism is that there is a defect in synapse formation," .... mutations of genes directly connected to CASK have already been identified as being associated with autism.

Li-Huei Tsai, PhD, and Picower Professor of Neuroscience at the Massachusetts Institute of Technology (MIT)

autism

Autism and Alcohol? Not Very Likely

Any potential cause of autism should be examined. One recent report suggests that alcohol consumption by expectant mothers is, or may be, a factor. I find this suggestion as highly unlikely as the Television causes autism speculation but if credible evidence is found then lets see it. For now color me unconvinced, totally unconvinced. Obviously alcohol consumption by expectant mothers is unwise for a number of other serious health reasons including and especially Fetal Alcohol Syndrome but autism?

For the record I would like to offer the following information. I have two sons one 13 and one 11 1/2, the younger of whom is profoundly autistic by pediatrican diagnoses and psychologist assessment. Their mother, who is an extremely rare consumer of alcohol to begin with, consumed no alchohol during either pregnancy or during the period immediately prior to either pregnancy. In both cases we were consciously seeking to have children and my wife was extremely cautious about what substances she consumed. In fact, she consumed no alcohol at all, nor even caffeine (though she likes Diet Coke). In fact Conor's mom took no pain killers of any kind even Aspirin, Anacin etc. during the two pregnancies or the periods preceding them.

Alcohol causes autism? Wellllllll ..... may....be , who knows, but not in the case of Conor Doherty

A Unified Autism Theory - Genetic Without Being Heritable

The proposed Unified Autism Theory is another major paradigm shift in theories of autism causation. For a lay person like me, it challenges my understanding of genetics and heredity. Essentially the cause, or causes, of autism, can be genetic based without being heritable, arising from spontaneous mutations resulting in losses of genetic code and an inability to produce sufficient protein. The theory also suggests that there may be two classes of families, low-risk and high risk. New early treatments may be developed. But, as with any new theory, more data will be required to test the theory to determine the extent to which it is right or wrong.









http://tinyurl.com/2jx5ma

In work that may one day lead to earlier detection of children at risk of developing autism, a team of scientists has devised a genetic model for the enigmatic disorder. The two-tiered theory integrates families with one or more autistic children. An estimated one in every 150 children born in the U.S. develops autism, according to the Centers for Disease Control and Prevention (CDC); it is four times more prevalent in boys than in girls. The condition is characterized by cognitive deficiencies and symptoms ranging from antisocial (not responding to one's name and / or avoiding eye contact) to obsessive, repetitive behavior. The most popular theory about its genesis is that there are flaws in several genes passed down through generations of a family that culminate to predispose a child to the disorder, especially if exposed to certain environmental factors such as toxic chemicals or a lack of oxygen at birth. "People thought there was this uniform risk—if you have an autistic child, then there's some uniform, but fairly low, risk that you'll have another one," says Michael Wigler, a professor of genomics at Cold Spring Harbor Laboratory (CSHL) in Long Island, N.Y., and senior author of the new model described in Proceedings of the National Academy of Sciences USA. "None of the population geneticists, in my experience, had thought that there might be two classes of families: low risk and high risk."

Wigler's rethinking of autism's cause stems from an exhaustive analysis of risk based on a database of families with more than one autistic child. (The Autism Genetic Resource Exchange, or AGRE, manages the database.) The team determined that most cases of autism arise from novel, spontaneous mutations passed down from one or both parents, resulting in large gaps in a person's genome often encompassing several genes, which are then disrupted or inactivated. (This loss of genetic code—known as copy number variation—results in an offspring receiving only one of the standard two copies of a gene, which could cause an insufficient amount of protein to be produced by those genes.) In most instances, this mutation will result in an autistic child. However, in some cases—more likely in girls than boys—the recipient of this mutation will not produce any symptoms.

"When that child matures and becomes a parent, they have a 50 percent chance of transmitting … [their mutation] … to a child that might not be as lucky as they were, especially if … [its] … a boy," Wigler says. "So, they will be transmitting this with close to a 50 percent frequency—and that is the source of the high-risk families."

Wigler says that the team will continue to update its model as new figures are added to the AGRE database and try to gain new insight into the mechanism that gives girls greater resistance than boys. "To understand that [disparity] at a molecular or genetic level would be very important, because you could theoretically treat kids … you could detect something early and intervene," Wigler says. "I view it as the most important thing to understand."

Maja Bucan, an associate professor of genetics and gene variation at the University of Pennsylvania, says that the new autism model is a creative way to interpret the familial data. "It's important to come up with new theories and then just test them once we have more data," she explains. "I don't think we have enough data [yet] to say whether this theory is right or wrong."

According to Wigler, the new model "certainly changes the way you think about autism. The paradigm shift is … something can be genetic without being heritable. The field has ignored the contribution of spontaneous mutation for a whole range of things that matter a lot to society," which, he adds, includes schizophrenia and morbid childhood obesity.

Kaiser Permanente Study - Autism Risk Rises with Ages of Moms & Dads

Risk of Autism Rises With Age of Moms, Dads


2007-04-02 22:05:06 -

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OAKLAND, Calif., April 2 /PRNewswire/ -- Men and women who wait to have babies later in life may increase their children's risk for autism, according to a Kaiser Permanente study featured in the April issue of Archives of Pediatrics & Adolescent Medicine, one of the JAMA/Archives journals.

The study investigated 132,844 children born at Kaiser Permanente hospitals in its Northern California region over a five-year period (1995-1999) and identified 593 children who had been diagnosed with an autism spectrum disorder (ASD).

Study results show that a mother's and father's risk of delivering a child with autism steadily increases as they get older. Women ages 40 and older showed a 30 percent increase in risk for having a child with autism (1 in 123), when compared to moms between the ages of 25 and 29 (1 in 156). Men ages 40 and older had up to a 50 percent increased risk of having a child with autism (1 in 116), when compared to their 25- to 29-year-old peers (1 in 176).

Advanced age of mothers has been associated with risk of autism in several, but not all earlier studies, according to study author Lisa A. Croen, PhD, an epidemiologist at Kaiser Permanente's Division of Research in Oakland, Calif. The role of a father's age in autism has been less frequently studied, although advanced paternal age has been associated with other adverse reproductive outcomes, including miscarriage, childhood cancers, autoimmune disorders, schizophrenia and other neuro-psychiatric disorders.

"As men age, there is an increased frequency of new mutations in the cells that go on to become sperm," said Dr. Croen. "These sporadic mutations could be related to autism risk. It is possible that non-genetic factors that are more common in older parents might also account for our findings."

For reasons not fully understood, autism is on the rise, affecting on average about one in 150 children born in the United States, according to the Centers for Disease Control and Prevention, which helped fund the study. The chronic, life-long condition affects the normal functioning of the brain, impacting development of social and communication skills.

While the cause of autism is unknown, there is strong scientific evidence that the condition is genetic. Environmental factors -- such as infections, medications and pesticides -- are also being investigated for their possible role in the cause of autism.

Children with autism are four more times likely to be male. According to the study, children with the disorder were also more likely to have older, more highly educated and white, non-Hispanic parents.

A growing number of autism cases several years ago caused Kaiser Permanente physicians and leaders from throughout Northern California to design a regional program that would best serve the needs of parents and children. Using best practices, the Regional Program for Autism Spectrum Disorders (ASD) was established in 2004 under the direction of Pilar Bernal, MD.

Today, the regional program includes a team of ASD clinical champions from all of Kaiser Permanente's pediatric psychiatry and pediatric clinics in Northern California. It also includes two regional Autism Spectrum Disorders Centers, currently located in San Jose and Rancho Cordova. A third center is being planned for the Bay Area.

Research shows that early intervention can greatly improve a child's development. Kaiser Permanente provides routine autism screening for newborns to age 2 during well-baby check-ups, allowing pediatricians to refer very young children to the regional centers who they suspect may have symptoms of autism.

Dr. Croen notes the study data suggest that advanced maternal and paternal age are independently associated with ASD risk. Age effects were found to be independent of birth year and thus not explained by the increasing age of parents that has been observed in recent years. If the relationship between parental age and autism is causal, the fraction of autism in this sample attributable to having a mother or father older than 35 years is 4 percent to 13 percent, Dr. Croen says.

Future investigations are warranted that focus on the identifications of both genetic and environmental factors that correlate with advanced parental age, Dr. Croen says.

Interviews with Dr. Croen and a full-text version of the study are available upon request.

The Kaiser Permanente Division of Research conducts, publishes, and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and the society at large. It seeks to understand the determinants of illness and well being and to improve the quality and cost-effectiveness of health care. Currently, the center's 400-plus staff is working on more than 250 epidemiological and health services research projects.

Kaiser Permanente is America's leading integrated health plan. Founded in 1945, it is a not-for-profit; group practice prepayment program headquartered in Oakland, Calif. Kaiser Permanente serves the health care needs of more than 8.6 million members in nine states and the District of Columbia. Today it encompasses the not-for-profit Kaiser Foundation Health Plan, Inc., Kaiser Foundation Hospitals and their subsidiaries, and the for-profit Permanente Medical Groups. Nationwide, Kaiser Permanente includes approximately 156,000 technical, administrative and clerical employees and caregivers, and more than 13,000 physicians representing all specialties.

http://www.kaiserpermanente.org/

Source: Kaiser Permanente

Metabolism, Fatty Acids and Autism?

One of the encouraging public aspects of autism is the amount of research taking place. The Autism Genome Project is a tremendous example of international cooperation by some of the best in their fields to advance our autism knowledge base. And scientists in New Jersey are reporting a study which indicates there may be a connection between autism and some people's inability to metabolize key fatty acids. If future studies support these early tentative findings diagnosis might become possible by simple urine and blood tests and cures might also be on the horizon for autistic children whose parents wish to see their children cured.




Jersey scientists find a possible key to autism

Sunday, February 18, 2007
BY PEGGY O'CROWLEY
Star-Ledger Staff

A team of New Jersey scientists believes it has found ways to detect biological risk factors for autism through simple urine and blood tests, a discovery that could lead to groundbreaking medical treatment for the neurological disorder.

The team of 16 scientists, mostly drawn from the campuses of the University of Medicine and Dentistry of New Jersey, say their findings, the result of more than two years of study on how the body breaks down fatty acids, could be a breakthrough for what is the fastest-growing developmental disorder in the nation, with no known cause or cure.

The UMDNJ researchers say they have found that children with autism are unable to metabolize key fatty acids that help the body fight inflammation that causes damage to the brain and other organs.

"It's an exciting story that's unfolding," said George Lambert, coordinator of the 15-member research team.

The potential treatment, members of the team say, is a kind of "therapeutic cocktail" tailored to each child, which would give them a dose of a "good" fatty acid that they are not able to make on their own. Team member Bernd Spur of UMDNJ-Stratford created the chemical process to replicate one of those good fatty acids.

"The pathway doesn't work (in the body), so we circumvent it," said Spur, a chemist.

Currently, the only way to diagnose autism is by a clinical assessment of symptoms, which include difficulty with communication and social interaction, as well as obsessive behaviors and interests. New Jersey has a high incidence of the disorder, affecting 1 in 94 children in the state, compared with 1 in 150 in the U.S., according to the Centers for Disease Control and Prevention.

Researchers say that in the future a person's risk for autism could be measured with a simple urine test that would look for high levels of "bad" fat molecules, or a blood test that could reveal genetic problems, including the absence of a key gene, called GSTM1, which is responsible for metabolizing good fats. Many people with autism do not have this gene.

Xue Ming, a neuroscientist and a founding director of the Autism Center at UMNDJ-Newark, discovered that children with autism have higher levels of bad fat molecules in their urine than typical children.

No one understands yet why it is that so many children with autism have such metabolic differences, but Ming suggested it might be caused by an interaction between genes and the environment. It may be that having less of these key fats reduces the body's ability to deal with environmental and metabolic stress.

Since the 1990s, scientists have known about the potential for good fatty acids to treat inflammatory diseases such as Crohn's disease, ulcerative colitis, even asthma and Alzheimer's.

That potential has spurred a frenzy of research into lipids, the fatty compounds that include fatty acids. Studies at the University of Pennsylvania and Vanderbilt University have confirmed the New Jersey group's findings, said Spur.

At Harvard University, researchers are working on treatments for asthma and periodontal disease, while researchers at Louisiana State University are focusing on stroke.

Team members have been meeting every week for more than two years to discuss the results of their experiments. They include Lambert, a pediatric toxicologist who looks at the impact of the environment on children; Spur, the chemist who replicated the fatty acid in the lab; neurologist William Johnson, who associated the missing gene with autism; and Ming, a neuroscientist who tested for the presence of bad lipids in children.

So far, the scientists have obtained six patents for their research, Lambert said. They soon will meet with the Food and Drug Administration to discuss the requirements for producing and testing their substances, he added.

"Metabolic issues in autism are entirely understudied," said Sophia Colamarino, science director for Cure Autism Now, a major advocacy and research group in Los Angeles. "It's a very exciting area. There is accumulating evidence that would clearly tell me this is where I should look."

The New Jersey scientists are cautious, however, about their preliminary results, and warn families not to expect a miracle cure. Testing on humans, they say, could take a few years.

Meanwhile, the researchers are preparing a preliminary study to begin in September. Lambert hopes to work with 5- to 7-year-olds at the Douglass Developmental Disabilities Center in New Brunswick, a school for children with autism run by Rutgers.

Lambert will be giving the children doses of a good fatty acids to see if they have any noticeable effect on the children's cognitive, social and behavioral states. The study will use a control group of similar students.

"New Jersey is the perfect place to do this," said Lambert, director of the EPA-funded Center for Neurotoxicology. "We have a high incidence (of autism), a long history of activism and a strong community."

http://www.nj.com/printer/printer.ssf?/base/news-11/117177694297300.xml&coll=1