Sense and Nonsense on Autism: Beyond Genetics

by Siegfried Othmer | August 1st, 2007

Sense and Nonsense about Autism: Beyond Genetics
beach “Autism is currently, in our view, the most important and the fastest-evolving disorder in all of medical science and promises to remain so for the foreseeable future.” —-Dr. Jeffrey A. Lieberman, chairman of the department of psychiatry at Columbia University’s school of medicine.

A few months back David Kirby (author of the book “Evidence of Harm”) interviewed Katy Wright about her autistic child Christian, and more specifically the recovery that he was beginning to make with biomedical treatments that have been developed over the years by the MDs and Ph.D.s involved with the organization Defeat Autism Now (DAN). (

Katy makes no bones about what she believes happened to her son: “I believe that Christian’s regression and subsequent autism was the result of receiving six vaccines during one office visit at two months of age,” she wrote. “He screamed for twelve hours and had a 104 degree fever nearly the entire time. His vaccines contained thimerosal,” the mercury-based preservative. “It is devastating,” she added, “because so much of this is preventable.” ( )

Tragically, this innocent and entirely well-motivated attempt to spread the good word put Katy at cross purposes with her own parents, who were also motivated by witnessing their struggling grandson to invest their resources in autism research. The parents, Bob and Suzanne Wright, started the non-profit “Autism Speaks” some years ago, which has since largely devoted itself to researching the genetic hypothesis. According to David Kirby, “Many in the upper echelons of Autism Speaks have
rejected any environmental hypothesis and insisted that autism is purely a genetic disorder…”

That this disagreement should lead to such a rift is quite incredible. The parents were moved to announce on the Autism Speaks website, “Katie Wright is not a spokesperson for Autism Speaks. She is our daughter and we love her very much. Many of Katie’s personal views differ from ours and do not represent or reflect the ongoing mission of Autism Speaks. Her appearance with David Kirby was done without the knowledge or consent of Autism Speaks.

How can positions have hardened so much as to bring such acrimony within such a well-meaning and dedicated family? It appears that mainstream thinking has hardly progressed from the disgraceful decades of the “Refrigerator Mother.” The next milestone in thinking was that autism is a mental disorder, and that it was essentially untreatable. This had the disastrous consequence that children in obvious distress would not be treated at all it was seen as traceable to the autism symptom cluster. People were told to have their child institutionalized and to move on with their lives.

The next stage of mainstream thinking was that this particular mental disorder is genetically caused. The proof of such a hypothesis lies either in finding the offending gene(s), or it lies in epidemiology. Neither of these lines of research has been particularly fruitful. This does not seem to have had any effect on the prevailing belief system. The same tired hypothesis is still being mouthed despite all evidence to the contrary.

So what does the evidence really point to? Let’s take a very cursory view of the principal landmarks. Under the genetic model, the fact that the disorder (or disease) was not seen prior to 1943 means that humankind must have experienced some kind of critical mutation during the twentieth century. The fact that the condition was observed independently both in Europe and the United States during the time of World War II means that there must have been two independent mutation events happening at essentially the same time and having a comparable impact on behavior. This is just bloody unlikely.

The suggestion that autism was pre-existing and just was not recognized is hardly credible. The papers of Leo Kanner and Hans Asperger make it very clear that they were seeing something new in their experience, not just choosing to parse things differently than before. Kanner referred to a “markedly and uniquely” different disorder than he had ever encountered before. The subsequent research history confirms this. As we have noted before, at one point the head of Harvard Medical School required all the medical students to acquaint themselves with a new referral of autism because he knew such an opportunity to be quite rare. “You may never get to see another such child in your professional lifetime.” Most child psychiatrists now practicing have lived through the entire period in which what used to be rare in their offices has become commonplace.

Here are the latest numbers from California, which has tracked autism incidence rigorously since 1971: By 1987 some 2700 persons with autism were identified in the state. An equal number have been added in the last nine months. What took sixteen years to accumulate before now happens in nine months. The total caseload for full-bore, classic autism is now 34,000. 92% of these were born after 1980.

The swelling multitudes seeking mental health services for their children cannot be explained away as simply a reframing of a pre-existing problem. Autism is not to be confused with mere mental retardation. We have an epidemic of autism on our hands, and it is not possible to have a genetic epidemic except on cross-generational time scales. Said Thomas Insel, director of the NIMH, “It’s going to be difficult to explain a ten-fold or even five-fold increase or any increase based on genes; they don’t change in a decade.”

Of course there are genetic factors operating in autism. First of all, there is the fact that the condition predominates in boys, except for the autism variant of Rett Syndrome, which dominates in girls. And in identical twins there is some 90% concordance with respect to the autism diagnosis. But autism is not like Huntington’s or cystic fibrosis. The genetic causation is unlikely to be attributable to one gene, and hence is not traceable to one mutation event. Autism is much more like other behavioral disorders, such as Tourette Syndrome. Whereas at one time there may have been the hope of finding a key Tourette’s gene, it is now acknowledged that the genetics of TS are complex. The same holds for schizophrenia and other major mental disorders. No effort to trace a major mental disorder to a single gene has ever succeeded.

No rational person can be at war with the genetic hypothesis per se. It is just that this cannot be the whole story, and the rest of the story may in practice be the more important, and the more relevant. For example, one can take the twin argument the other way. There are a number of identical twins that are discordant for autism in which the trigger appears to have been a vaccination. I am acquainted with two such cases, and in these there happen to be slight differences in the vaccination history of the twins. This argues, at a minimum, for cofactors in the etiology.

Even if all the genetic research on autism were to bear fruit tomorrow, this breakthrough would not represent any kind of immediate relief for the autistic population. (A promising lead, however, is offered by a recent study of Rett Syndrome in mice where reversal of the disease process was achieved with a genetic technique.) We must look downstream from the pure genetics and see what havoc is actually wreaked with the physiology. Our genetic endowment might as well be taken as a given, for the moment—for good or ill.

This much has to be clear to all knowledgeable professionals involved. It is therefore mystifying why there would not be unalloyed joy in all the ranks when one or another technique shows us some success in treatment, giving us the hope of some daylight on this challenging condition. The mystery resolves when it is recognized that most of the biomedical remedies assume environmental factors as crucially involved in the etiology of the condition. And such factors indict human causation. Our own activities may be largely responsible for what we are now witnessing.

And just as in the case of global warming, the ongoing mass extinction of our fellow species, and the collapse of ocean fisheries, there are all sorts of interest groups that wish to deny human causation. Such an acknowledgement would entail a moral responsibility to correct the state of affairs, and more particularly, it would bring in its train an incredible liability. By now we are dealing with 50 million children on the autism spectrum worldwide. So, just as the tobacco companies continue to deny any liability for their actions, the prevailing interest groups wish to argue that the science points another way. No one could have known for all these years, it is suggested, that human causation is the linchpin of the entire debacle.

This is nonsence. The science and epidemiology are by now quite clear. You cannot get to where we are by genetic arguments alone. If the sudden onset of autism in our human family is not traceable to a single mutation in a single gene, then the genetics of autism may be considered as fairly stable over this time period. The rapid increase in incidence must then be traced to an interaction of environmental factors with those who happen to be genetically vulnerable. Environmental causation is by now apparent to any knowledgeable and objective scientific observer.

Dan Olmsted, investigative reporter at United Press International, has been teasing out the evidence over the past several years. (You can find his series, “The Age of Autism,” at under Special Reports). Olmsted found a likely candidate for an environmental trigger in ethyl mercury, introduced in the thirties into forestry and agriculture for purposes of fumigation. For most of the early cases of autism Olmsted was able to trace a likely path of exposure to the new miracle chemical. (For the others, one may point to the fact that thimerosal was first introduced into some vaccines during the thirties also.)

The parents of these children either were involved in research related to this chemical or the families lived in areas where these chemicals first became environmentally available. Kanner’s first case had lived in a town called Forest, Miss., “near sites where ethyl mercury was first tested as a lumber preservative.” The father of child #2 was a “plant pathologist experimenting with ethyl mercury fungicides for the U.S. government at the time his child was born in 1936.” “The father of child # 3 was a forestry professor in the south.” This then led to the first publications on this condition in the early forties by Kanner and Asperger. Even though they had no connection with each other, both called the condition autism. The respective cases they covered had been born within a few months of each other, thousands of miles apart.

The hazardous nature of these ethyl mercury-based fumigants soon became apparent, and their use in agricultural products has been outlawed for decades. The casual injection into infants of the same toxic material with vaccines, however, remains to this day. Even here, the use of thimerosal is not necessary. It was considered desirable to have the disinfectant in multiple-dose vaccines. A simple accommodation to the thimerosal controversy would have been to return to single-dose vaccines. Mere convenience should not have been allowed to override the medical risk, even if the risk were considered to be unproven. By now, of course, the removal of thimerosal from most new vaccines has been mandated-except for the flu vaccine! The recklessness continues.

And then there is the matter of the vaccines themselves. It has long been known that vaccines are not categorically safe. A small percentage of children may suffer severe neurological deficits (at a rate of some 1-10 per 100,000). We have ourselves seen a number of such cases in our neurofeedback office. One in particular stands out. The vaccine-induced encephalopathy in one young girl made her susceptible to seizures whenever someone-even she herself-touched her left arm. Fortunately neurofeedback has been profoundly helpful in this case. And then there are the brain tumors. Our own daughter died at fourteen months of a brain tumor. This was in 1975, when such conditions were hardly heard of anywhere. Wherever we went for medical treatment, our daughter was the youngest infant ever seen for her condition.

A subsequent USC study found only one statistically significant factor in this new constellation of childhood brain tumors-the involvement of the father in the chemical or nuclear industry. I happen to fit into both categories. Our eldest son, who drew us into the field of neurofeedback, would nowadays be diagnosed with Asperger’s in addition to his seizure disorder.

Dr. Andrew Wakefield stepped into this morass in England some years ago. His “controversial research suggests the measles virus may be linked to inflammatory bowel disease in children with developmental disorders.” His research group “described finding traces of the microorganism in the small intestines of 75 of 91 youngsters with autism but in only five of 70 children without the disorder.” (Lidia Wasowicz, UPI)

One obvious source of the measles virus was the MMR (measles, mumps, and rubella) vaccine, and the study did report on twelve kids who developed autism soon after getting the MMR jab. But the study had not formally addressed the vaccine connection. Still, the resulting uproar caused ten of the twelve co-authors of the study to withdraw their names. But the underlying hypothesis is only too reasonable, and remains uncontroverted. An immature immune system can fail to come to terms with the (live but attenuated) virus, unleashing a persistent inflammatory response in the bowel. That in turn affects how food is processed, and what is allowed to pass through the intestinal wall in terms of nutrients. Metabolic pathways may be disturbed; immune reactions to the rogue intruders may be mobilized; autoimmune reactions may be kindled; chronic inflammatory responses may be unleashed; and finally, our most delicately regulated organ, the brain, suffers in consequence.

Wakefield can be accused of not having proved this entire chain of argument when raising the alarm about the MMR vaccine. He had merely identified a troubling correlation. But shouldn’t the burden of proof be the other way around? Evidence of lack of safety should be disposed of by the usual scientific method, not by destroying the reputation of the bearer of the bad news.

Thomas Insel even suggests a path forward: “The way to disentangle that is to find places where it hasn’t happened. I haven’t yet heard of a place where … someone can say, well, you know, the rate was one in 1,000 in 1990, and in (2006), it’s still one in 1,000.” But Dan Olmsted has found not only one such place, but two. The first is the cohort of Amish children, where autism is virtually unheard of. Where nominally 130 autistic children would have been expected, only four were found. Three of these had been vaccinated, it turns out, and the fourth had lived near a mercury-spewing power plant. The second example is Homefirst, a large family medical practice in Chicago. It has thousands of unvaccinated children as patients. The Director, Mayer Eisenstein, told Dan that he was aware of only a single case of autism and of asthma in that cohort. No health or research agency has expressed any interest in Dan Olmsted’s report.

Because of the known dangers of vaccines, the US Government established the Vaccine Injury Compensation Fund in 1988. With a 75-cent surcharge on every vaccine, some $2.5B has accumulated for compensating the relatively small percentage of families that suffers neurological injury attributable to vaccines. In the recent past, for example, a child was compensated from the fund for cerebral palsy that he suffered after receiving the MMR vaccine. The incidence of cerebral palsy subsequent to the MMR vaccine is miniscule. An epidemiological study would find that the vaccine is irrelevant, statistically speaking, in the etiology of CP. Yet compensation was offered on the rational basis that the vaccine represented the most likely proximate cause in this particular case. Yet no case of autism has received compensation, even though the case for doing so is much stronger. Some 4800 claims have been submitted to date, a fraction of those affected. (Some 800 or so cases of major neurological injury have received compensation from the Fund over the years.)

If healthcare officials are concerned about parental abandonment of the vaccination regime, they should respond by taking care of the occasional disasters, not to deny that they exist. By now the official inaction on autism cases has succeeded only in cultivating an irate and increasingly knowledgeable cadre of parents seeking some consideration of their plight. Just as in Iraq, hamfisted policies fan the flames of insurgency. Consider the following cases purely on a common-sense basis, just as any parent would:
“Barbara and Butch Labrecque report that their first son Jonny was born a normal and healthy boy, very strong and very alert. But, after Jonny received his four-month shots he became very ill with chronic diarrhea. Doctors ruled out different allergies or colic. “We hospitalized him; we questioned if it could be the vaccine at that point because he just had his vaccine right before that episode, and we were told no,” according to Barbara Labrecque. It was after his 12-month immunization that Jonny seemed to be getting worse. Barbara said “the diarrhea came back within a week. We saw that he slowly started to lose his developmental functions. He suddenly was not the happy playful joyful baby and little toddler anymore. He was very removed.” The Labrecque’s say several development professions diagnosed Jonny with Autism.
It was a little more then a year and a half after Jonny was born that the Labrecque’s celebrated the birth of their second child Sierra. They were determined not to have her vaccinated. But they say they were forced by their doctor to do so. Barbara said “They took Sierra from my arms and they vaccinated her. That very night she swelled up like a watermelon and turned purple-red from head to toe with a body rash.” Within a week Sierra was rushed upstate to Rochester Children’s Hospital fighting for her life. Her liver was failing and organs were seriously damaged, Doctors didn’t think she would survive. Sierra survived but had to be put on a feeding tube for three years. Along with a list of other medical diagnosis like her brother, Sierra was also diagnosed with having autism.”

The first exemplar that was brought before the vaccine court that is currently hearing the autism issue was the case of Michelle. “Wearing noise-canceling headphones, Michelle, of Yuma, Ariz., was brought into the courtroom in a wheelchair at the start of the proceedings before the U.S. Court of Federal Claims. She stayed only a short time.

Her parents, Theresa and Michael Cedillo, allege a preservative called thimerosal that had been used in vaccines weakened their daughter’s immune system and prevented her body from clearing the measles virus after she was immunized for the disease at age 15 months.” The measles virus in her body has been determined to the same strain as in the MMR vaccine she was given. Now “Michelle suffers from a litany of health problems, including severe autism, inflammatory bowel disease, glaucoma and epilepsy.”

Another case: Daniel was said to have developed normally, including beginning to speak. “Then his health declined….after routine vaccinations when he was 18 months old. Daniel ran a high fever and became lethargic. He stopped responding to his name.

When a specialist diagnosed autism a month later, Jones-Safian pointed to what she said was the most likely culprit — a cocktail of vaccines that included the measles, mumps and rubella vaccination, as well as three injections called IPV, DPT and Prevnar, which protect against diseases including polio.”

Finally, a report from a court proceeding in China:
“At the start of the two-day hearing, Tang Jingling, a lawyer representing the children and their families, told the court in Jiangmen city, in southern Guangdong province, how Liang Jiayi, a lively two-year-old, ran a high fever after she was given a vaccine for Japanese encephalitis in a government clinic in August 2003. She fell into a coma four days later and when she came to, she was paralysed and has remained in a vegetative state since.

The other two children, Tan Jieyi and Yu Ronghui, were vaccinated in Jiangmen in March 2005. Now 12 and 14 respectively, they can walk but are mentally retarded and have been refused places in school.”

A variety of encephalopathies that arise immediately after vaccination are deemed deserving of compensation. Not, however, the autism spectrum. Somehow, the resources of our government are being been mobilized to assure that the families get to bear these burdens all by themselves. It is estimated that the direct medical costs, and the direct associated costs of care, will likely amount to more than $1M for each of these children over their lifetime.

Just focusing on the epidemiology of autism is already a misdirection. Epidemiology can only indict; it cannot exonerate. It is too crude a tool. Any such study has a finite statistical power, depending on group size and the number of variables in play. If the group size is “n,” then the study cannot say anything significant about events that happen at a rate of (1/n). Yet those events are still significant, as the above cases illustrate. (In the case of the rotavirus vaccine, for example, the study population would have had to be larger than 100,000 to reliably detect the fatal bowel obstruction condition that led to the subsequent withdrawal of the vaccine.)

It is not necessary to prove that vaccines in general, and thimerosal in particular, are the dominant cause of autism. If even one percent of autism cases are attributable to vaccines, then we are dealing with 15,000 cases. Epidemiology is not fine-grained enough to rule that out, and to claim that it does so is unscientific. And if even one-tenth of one percent of autism cases are attributable to thimerosal, this would argue for the removal of thimerosal through the simple expedient of going back to single-dose vials.

Even when epidemiology does incriminate, as it did only too well in the case of cigarette tobacco, the threatened industry managed to obfuscate the issues for another fifty years. Whenever scientists have been recruited to a cause, the cause has flourished and the science has suffered. That was the case with the eugenics campaign in the early twentieth century in the US, with the Nazi campaign of racial improvement through the euthanasia of mental defectives that followed, with the Tuskegee experiment on syphilitics, with experimentation on the American public with radioactive materials and psychedelic substances, with the down-playing of the hazards of tobacco, and with a variety of drug safety issues over recent years.

So what do the latest epidemiological studies actually show? Results for a large telephone survey of families in Oregon and California have just been released indicating that the risk ratio for autism in vaccinated versus unvaccinated boys ranges from 1.6 to 2.1 dependent on age cohort. The overall story is consistent with this. Looking at a variety of neurological disorders jointly, including ADD, ADHD and asthma along with the whole autism spectrum, the risk ratio is nominally 2.6 for boys. It is only 1.6 for girls. (

So, we can’t just talk about the genes. Other co-factors appear to be relevant. Ironically, the best near-term use that could be made of any genetic markers that may be identified for autism would be to adopt a more conservative vaccination regime with such children. Right now mercury exposure and vaccines may be seen as disclosing a genetic vulnerability to autism in a particular child. But by then the damage is done. It would be nice to know ahead of time who is most at risk.

Taking stock of where we are
With the diversionary dalliance with the genetic hypothesis, we are now into the third wave of medical inaction on autism. The first was the Refrigerator Mother hypothesis. The second was the “untreatable mental disorder” hypothesis. Autism was deemed a problem of the mind, not amenable to medical intervention. And the third, now under way, blames the genes that are not clinically accessible in the near term. The obvious medical and psychological distress of these children remains unattended to this day.

Now just as mercury is only one factor among many contributing to the autism epidemic, autism itself is only one part of a larger story. Dan Olmsted quotes a distressed blogger on a CDC internal blog as follows: “Speak to any school administrator, group of families or front line care providers and ask them what the state of health of America’s children is today. What do you think you’ll hear? I submit you would hear that we have the sickest generation of children that any of us have ever seen.

“But the sickness is not coming from the roster of infectious diseases that all of you are programmed to consider the enemy. Rather, they are a long list of chronic, insidious but devastating conditions that are sapping the services system and turning schools and summer camps into medical distribution centers. Asthma, diabetes, ADD, ADHD, autism, PDD, obesity, life threatening food allergies, and the list goes on. Children and families are in crisis in large numbers.” “…[The] CDC is failing in its most critical public mission….”

And Robert Kennedy, in his famous article on the scandal, quoted Patti White, a school nurse, who told the House Government Reform Committee in 1999. “Vaccines are supposed to be making us healthier; however, in twenty-five years of nursing I have never seen so many damaged, sick kids. Something very, very wrong is happening to our children.”

But the news is not all bleak. Some voices are being raised in opposition: George Wayne Lucier, formerly a senior official at the National Institutes of Health in Environmental Toxicology, and NIH advisor, a member of the National Academy of Sciences Committee on Toxicity Testing, and a scientific advisor for the EPA, has concluded that “…it is highly probable that use of thimerosal as a preservative has caused developmental disorders, including autism, in some children.”

And we are getting help from abroad. “In 1977, a Russian study found that adults exposed to much lower concentrations of ethylmercury than those given to American children still suffered brain damage years later. Russia banned thimerosal from children’s vaccines twenty years ago, and Denmark, Austria, Japan, Great Britain and all the Scandinavian countries have since followed suit.” (Robert Kennedy)

In this article I have allowed myself to be seduced onto the very turf where officialdom would like for the discussion to be conducted. At the top level the issues are two-fold: 1) Public trust in the vaccination regime needs to be maintained, and 2) liability for past errors needs to be avoided. In the midst of these looming concerns, the issue of curing autism really does not rise to the same level. The society can neglect autism just as well as it neglected AIDS during the early years after its discovery.

With respect to liability, matters are much like they were with the Catholic Church sex scandal. At what point does the hierarchy grasp the nettle and come clean? There is no such point, so the scandal just gets cumulatively worse. Similarly, our national healthcare hierarchy is just ignoring the victims. It would be a simple matter to just provide help from the Vaccine Injury Compensation Fund for these families. After all, that is precisely its function. But that would implicitly support the case for a chain of argument leading to greater liability for the decision-makers for their past actions and inactions. Every day ten children are newly identified in California as classically autistic. Each of these represents a forthcoming burden of $3million to the economy of our state and nation if we count both direct and indirect costs.

The really good news is that while the authorities are occupied by the fact that their tailfeathers are on fire, numerous independent activities around the nation are beginning to address the challenge of a cure, or at least a remedy. The most exciting of these, from my vantage point, is neurofeedback. But these are topics for another day and another column. The new thrusts do not get the attention they deserve because first of all they are not sponsored by the elites, and secondly they implicitly indict the myopic concentration on the genetic argument. All of the nascent biomedical, somatic, psychophysiological, and behavioral remedies jointly indict a single-minded official research focus on the genetics.

Ultimately, the cumulative impact of these developments in the biomedical and psychophysiological treatment of autism will upset the hegemony that is frantically being shored up. And it may be argued at that point that “we did not know then what we know now,” hence absolving themselves of liability. It is therefore important to put down a benchmark and say: No more data are needed to indict the prevailing attitudes. The dangers of mercury in general, and of thimerosal in particular, have been well documented all along. The risk of encephalopathy with various vaccines is also well known. The case for exonerating both in the etiology of autism has never been able to stand up. We are confronted with the largest medical scandal in our country’s history. No refuge lies in claims of ignorance.

Siegfried Othmer, Ph.D.

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