Conflict within the Autism Community

President Obama has nominated Ari Ne'eman (pronounced AH-ree NAY-men) to the National Council on Disability, and in the process has inadvertently highlighted a split in the Autism advocacy community. Ne'eman is an interesting guy. He apparently has Asperger's disorder and is the Founding President of the Autistic Self-Advocacy Network (ASAN). They argue that autism is a form of "neurological diversity." By conceptualizing autism in this way, ASAN sees autism as a form of diversity, not an illness.

ASAN argues that the main focus on autism expenditures should be on providing supportive services and thus finding ways to include autistic persons in society. It shouldn't be on finding a cure. In contrast, the largest advocacy group on autism in the US, Autism Speaks, still sees autism as an illness that needs to be cured. They want to see an emphasis on research on causes and cures. The New York times just published an article on the controversy.

From my perspective, as a clinician who has worked with persons with autism, the controversy is overblown. The reality is this:

First, advocates of the neurological diversity hypotheses about autism should remember that the vast majority of mutations occurring in the natural environment are maladaptive. There is no reason to assume that all diversity is good and this is the case with autism. The social and economic costs of having a child with autism in the family are tremendous and we should not idealize autism. Families are disrupted. There are divorces, because parents are depressed and guilty about the child. Siblings often feel left out and lost in the family while parents devote most of their energies to the disabled child. Autism can be a terrible disability. We have found that early intervention does have a positive impact on autism, but we are still a long way from a cure.

Second, there is a wide range in the functioning of autistic persons. People like Ne'eman can function fairly well and be remarkably successful. However, they are the exception to the rule. Most autistic individuals are unable to function independently and--if they can work at all--can only do manual labor. While there is nothing wrong with manual labor, people with autism simply do not have the social skills to function adequately in those kinds of situations. I know. I work in an county that still has a lot of factories. A person who is "different," perhaps in appearance, ethnicity, or functioning, gets horrible harassment, especially if they don't have the social skills to stop it. A factory or construction site is not a place for people with autism. There are few jobs out there for them in the community.

Finally, our current commitment to housing and social resources for people with autism is pitiful. It takes years to be placed in supported housing in Pennsylvania. I assume it is the same in other states. Care providers in group homes are terribly underpaid and there is a tremendous turnover in employees. The greater the turnover, the less the experience of the average care provider, and the worse the care is.

Ultimately, given our limited resources, we have no choice but must divide them:

• We need basic research to better understand the causes of autism, which we hope will lead to either a cure or prevention or both.
  
• We need treatment research to improve our current assessment and treatment protocols.
• We need more social services to provide more support so that we do not abandon persons with autism.

Obviously, I'm arguing that both sides are right and I don't apologize for that. Advocates of each side can deny the legitimacy of the other side. But in the long run, treating autism is an overwhelming task and no amount of denial will make it less overwhelming. Compared to the need, our resources are very limited. Is it hopeless? No, but solving the whole puzzle of autism will take much time and many more lives are going to be impacted by it before then.

There is a book of Jewish wisdom, entitled Pirke Avot, which is variously translated, "Ethics of the Fathers," or (more modernly), "Teachings of the Sages." One of my favorite teachings comes from Rabbi Tarphon, who said, "You are not required to finish the job, but neither are your free to abstain from it." He was talking about religious study, but his advice has also been interpreted as applying to doing good works. As a society, we need to live by that wisdom, especially as it applies to all forms of disability.

Autism and Vaccines

The New York Times has a story on a lawsuit over vaccines and autism. It opens as follows:

Study after study has failed to show any link between vaccines and autism, but many parents of autistic children remain unconvinced. For the skeptics, the case of 9-year-old Hannah Poling shows that they have been right along.

The government has conceded that vaccines may have hurt Hannah, and it has agreed to pay her family for her care. Advocates say the settlement — reached last fall in a federal compensation court for people injured by vaccines, but disclosed only in recent days — is a long-overdue government recognition that vaccinations can cause autism.

“This decision gives people significant reason to be cautious about vaccinating their children,” John Gilmore, executive director of the group Autism United, said Friday.

The government argued that it did not cave in to anti-vaccine hysteria:

“Let me be very clear that the government has made absolutely no statement indicating that vaccines are a cause of autism,” Dr. Julie L. Gerberding, director of the Centers for Disease Control and Prevention, said Thursday. “That is a complete mischaracterization of the findings of the case and a complete mischaracterization of any of the science that we have at our disposal today.”

So, why did they settle? It's not clear from the news stories, and I don't have access to the settlement. Given the attitude toward science in our government, decision-makers may have decided not to let the facts bother them when their minds were made up. Or, maybe they just decided that they didn't want to put this one in front of a jury that might be controlled by sympathy, rather than science.

To understand the science, you have to understand some background. There are two reasons why people began worrying that vaccines may be causing an "epidemic" of autism. The first is that autism rates have been rising along with vaccination rates. The second is that symptoms of autism emerge at roughly the same time as vaccinations occur. So, it seemed like a logical hypothesis. Thimerosal quickly became the culprit.

Thimerosal is a vaccine preservative, and it contains ethylmercury in very low doses. There had been general consensus that the doses were low enough to be of no concern. However, the safety standards were based on methylmercury exposure, and it was thought remotely possible that there could be greater risk with ethlymercury. Alternative preservatives had been developed and it seemed prudent to eliminate thimerosal. Beginning in 1989 thimerosal levels were reduced in vaccines. The process was completed in 1992.

Because Thimerosal levels have been reduced over the years, a good way to track the effects of Thimerosal exposure is look at rates of autism as they correspond to Thimerosal exposure. A number of these studies (summarized here) have looked at this. Of particular interest is the California study. They looked at autism rates in California from 1989 to 1992, when Thimerosal was being removed from vaccines. Had Thimerosal increased risk of autism, rates of autism would have dropped over the course of the study. Instead, there was no change in the frequency of autism. Since they were relying on practitioner's diagnoses, there was no room for bias (by massaging diagnoses) in the study.

Hannah, the autistic girl in the lawsuit, was a member of the age group in the California study. According to the story, she got 5 immunizations at the same time, but still, she would have been getting lowered doses of Thimerosal, because she was getting them after 1989. Again, overall, Hannah's age group showed no change in it's rates of autism over the course of the study.

As an alternative to Thimerisol, there has also been concern about the measles, mumps, and rubella (MMR vaccine) itself causing autism. Here, the evidence is even weaker. Studies purporting to show a relationship usually involve smaller numbers of cases. They often rely on investigating groups of autistic children and try to relate the emergence of autism with receiving the MMR vaccine. However, as I said before, vaccination occurs at the same age that autism emerges, so you're bound to see a correlation. The only way to identify a relationship here is to examine individuals both with and without autism who have both received vaccinations.

The data just doesn't support a relationship between vaccines and autism. The best explanation for rising autism rates comes from two sources. First, there have been marked changes in diagnosis. We used to see autism as a single entity. You were either autistic or you weren't. Today, we see autism as a spectrum of disorders; you may be more or less autistic. So, people previously diagnosed as mentally retarded are now seen as autistic. High functioning autistic individuals used to be diagnosed with "childhood schizophrenia." Today they're diagnosed with Asperger's disorder, which is considered a form of autism.

Secondly, and perhaps more cynically, diagnostic labels determine access to some services. There are a large range of services for people who are called autistic. If someone's "just" mentally retarded, they may not have access to the same services. Hence, providers may say, "This kid needs Day Training Program A. If I call him 'autistic,' he'll get it. If I call him mentally retarded, he won't." I can't prove this happens, but it wouldn't surprise anyone in this business.

My first professional position after graduate school involved working in an institution for people with mental retardation. I was involved in the group of professionals who made it possible to clear the institutions and get people with cognitive and developmental disabilities living in the community. So, over the years, I've seen a lot. What I've seem mostly, is parents struggling with their disabled children.

As late as the 1960's, the conventional wisdom was to tell parents to put their cognitively disabled children in an institution and try to forget about them. Parents who followed that advice were often consumed by guilt. Today, thankfully, disabled children live and are educated in the community. But it's a terrible strain on the parents and on other family members to have a disabled person in the house. Behavior modification, the best treatment for autism, requires an incredible amount of time and effort. Even so, the guilt hasn't been completely eliminated.

Parents wonder if they caused their child's autism. Was it that drink I had when I was 3 months pregnant? Or that I smoked, or that I chose to have a child at 38? Maybe it was a toxin I was exposed to at work? Maybe I shouldn't have worked? Maybe I should have taken better care of myself?

Wouldn't it be nice if autism was caused by the doctor, and not me?

My heart goes out to parents of disabled children. Their desperation leads to all kinds of ideas; I've seen them come and go. Megavitamin therapy was big for a while. Give lots of vitamins to your autistic child and he won't be autistic any more. Didn't do a thing. Remember assisted communication? The idea was that autistic children had only impaired communication skills and if we helped them communicate they would be just fine. It turned out that the people that helped them communicate were really doing the communication themselves. It's hard to find a good reference to it now on Google.

This doesn't mean we should throw our hands up in despair. As Rabbi Tarphon, a Jewish sage remarked, "It is not required that you complete the job, but neither are you free to abstain from it." We cannot cure or prevent autism yet, but as a community we can support autistic people, their families and other caregivers. We cannot give support by pretending there is an easy cure or an easy explanation for their children's illness.

Father's Age and Serious Mental Illness

I have recently been corresponding with a reader concerning paternal age and schizophrenia. Schizophrenia is a serious mental illness where the individual suffers from delusions and hallucinations. Thought processes are often disturbed. (It is not a "split personality.") Schizophrenia is widely considered to be a neurobiological disorder, caused by a combination of genetics, the prenatal environment, and environmental stressors.

Surprisingly, the New York Times, which is becoming my favorite psychological journal, also devoted an article to the issue, entitled, It Seems the Fertility Clock Ticks for Men, Too. The article summarizes research on the relationship between the father's age and the risk of birth defects:

Geneticists have been aware for decades that the risk of certain rare birth defects increases with the father’s age. One of the most studied of these conditions is a form of dwarfism called achondroplasia, but the list also includes neurofibromatosis, the connective-tissues disorder Marfan syndrome, skull and facial abnormalities like Apert syndrome, and many other diseases and abnormalities.

“We have counseled for quite a long time that as paternal age increases, there is an increased frequency in new mutations,” said Dr. Joe Leigh Simpson, president-elect of the American College of Medical Genetics.

Both autism and schizophrenia have been tied to paternal age, dating back to research published in 2001. In an interview with Medscape, Dr. Dolores Malaspina described her research, also cited in the New Y0rk Times article. (Also check here, here, and here.) Malaspina and her colleagues performed several large-scale studies of demographic data collected in Israel both through the public health system and the Israeli Army. She stated:

We found that paternal age explained over a quarter of the risk for schizophrenia in the population. At the time, people were skeptical. But the findings have been replicated many times now, and not a single study has failed to find this strong relationship between father's age and the risk for schizophrenia. And at this point, other explanations for the relationship have been ruled out, including social factors in the family, prenatal care, and parental psychiatric ailments. There simply seems to be a relationship between paternal age and schizophrenia risk.

Malaspina described the proposed mechanism for this risk:

When Penrose found that paternal age predicted new human genetic diseases, he proposed the Copy Error Theory. He said that each time the spermatozoa are copied there's an opportunity for a new mutation. Sperm cells divide every 16 days after puberty, so the DNA in the sperm of a 20-year-old father has been copied 100 times, but sperm DNA from a 50-year-old father has been copied more than 800 times.

Think of sperm replication as a copy machine. Each time the a copier makes a copy, slight imperfections are created. If you copy the original each time, you never notice a change. But, if you make a copy of a copy, of a copy, of a copy, ad nauseum, you get the familiar spots, streaks, and fading. Human sperm is created from copies of previous generations of sperm, not from copies of an original template in the individual. The DNA in the sperm of a 20 year old has been copied 100 times, while the sperm DNA from a 50 year old has been copied more than 800 times.

Evolutionarily, this is advantageous because it provides for more variation in the offspring. But, with increased variation, comes the risk of negative, as well as positive, traits being transmitted. These include mental retardation and mental illnesses, notably schizophrenia and autism.

The Times cites critics of this research who argue the truism that correlation does not prove causality. That argument is certainly true, but there is more to the research than just correlation:

First, it is also a truism that, to show a cause and effect relationship, the cause must precede the effect. In the case of paternal age that is certainly the case. Paternal age obviously precedes conception.

Second, other explanations must be ruled out. Malaspina and her colleagues controlled for a number of environmental variables, including an adverse fetal environment, maternal age, and psychosocial stressors. Of course, we can never rule out all possible explanations, so we can only rely on a preponderance of evidence. But overall, the evidence favors paternal age.

Third, to argue causality, there must be a plausible mechanism moving from cause to effect. Copy error theory is certainly plausible. It is consistent with known biological processes.

Finally, to argue for causality, there has to be a convergence of data which is consistent with the explanation. Malaspina presents the following data:

1. The risk of schizophrenia rises with age, from .007% for fathers under 25; to 1% for fathers 30 -35, and 2-3 % for fathers 50 and older;
2. The risk factors are consistent across world cultures;
   
3. It's consistent with the data on other genetic diseases, as I mentioned above; and
4. Inbred mice show increasing behavioral disturbances with increasing paternal age.

All of this said, it is important to note that increased paternal age increases risk of schizophrenia, autism, and other genetic diseases, but there are other causes as well. Advanced paternal age is neither necessary nor sufficient for the development of schizophrenia. It is a significant risk factor, and one that can be avoided.

Malaspina argues against warning older men away from having children:

I would personally not discourage anyone from having a child at any age. People weigh their own risks. For the offspring of older fathers, the risk of schizophrenia is about 3%. That means that 97% of the offspring do not have schizophrenia. Other cognitive diseases linked to paternal age include mental retardation of unknown etiology and Alzheimer's disease, and there is a strong relationship between paternal age and autism.

I'm not sure I would completely agree with her. Given this data, I would urge an older man to think twice about parenthood, as I would urge an older woman to think twice. Having a family member with schizophrenia, autism, mental retardation, or other disorder can be a terrible burden for both parents and siblings.

According to one study, about a third of patients with schizophrenia make a full recovery. About one third make a partial recovery, where medication works effectively to manage their symptoms. The remaining one third remain very seriously ill. So, the risks of having an impaired child are small, but the cost can be tremendous, and should not be taken lightly.