Several large-scale, federally funded epidemiological studies are under way to pinpoint possible environmental triggers, as well as early biomarkers of autism. “We have to build a large enough study to be able to look at both genes and environment together,” says Newschaffer, who is a principal investigator on a study by the Centers for Disease Control that will look at 2,700 children over the next five years.
“As far as the impact of chemicals on neurodevelopment, only about 20 to 30 of the 85,000 chemicals have been studied.”
In another ambitious study, called the Autism Birth Cohort, Columbia University and the Norwegian Institute of Public Health will follow 100,000 pregnant women for 72 months, studying their health and genetics and testing everything from blood to urine samples. The hope is to discover environmental factors that contribute to autism risk, from diet or infection to toxins like heavy metals, pesticides, and the countless synthetic molecules in products today.
Top: astroglia inflammation (green cells) in the brain of
an autistic
patient. Below: microglial inflammation
(brown cells) infiltrating the cerebellum of an
autistic
patient. The blue cells are granular cells in the cere-
bellum.
(Courtesy of Diana L. Vargas and Carlos A. Pardo,
Johns Hopkins University)
Other large NIH- and EPA-funded studies are teasing out immune abnormalities that may contribute to autism. In research on more than 700 families with an autistic as well as a neurotypical child, Pessah and his colleagues have found in the autistic child a significant reduction in immunoglobulins and an abnormal profile of cytokines, which are critical to immune response. “The immune system is involved in important aspects of neurodevelopment,” says Pessah. “We’ve found the presence of immune antibodies that we think may influence brain proteins. In the next five years, as the study continues, we hope to reach about 1,600 families total. We need that many to get real statistical power. We hope to find out what type of skewed immune response the typical autistic child has and to isolate toxic exposures, such as proximity to highways or toxic waste dumps.”
Herbert argues that “we can address the disturbed pathways now, before the gene hunters have definitive information. Genes, after all, don’t specify behaviors. They make regulatory factors that interact in highly complex ways. And as far as the impact of chemicals on neurodevelopment, only about 20 to 30 of the 85,000 chemicals made have been studied. We can, at the very least, try to modulate autism by treating the tissue inflammation.”
In other words, treat now, before the gavel of science strikes a final judgment, which might be decades away. That’s what Erin and her husband, Michael, did for Brendan and Kyle: They blended mainstream treatments like speech and occupational therapy with the best biomedical approaches available. “I was told to take my boys home and love them,” recalls Erin. “The neurologist said don’t waste your time on alternative treatments, nothing about them is proven. My boys could have ended up institutionalized, or my husband and I would have had to take care of them their whole adult lives. When your child gets a diagnosis of autism, you lose the child you were dreaming about, the one who will go to college, get married, become a parent. That just wasn’t an option.”
The boys first saw an alternative Colorado practitioner who had been trained by a group called Defeat Autism Now! (DAN!). DAN! was cofounded in 1995 by the psychologist Bernard Rimland, whose own son was autistic. DAN! treatments focus on intestinal issues, detoxification, nutrition, and neuroinflammation. Recommendations include dietary restriction, usually eliminating gluten (present in wheat and other grains) and dairy.
“For weeks after Kyle stopped drinking milk, he had welts all over his body,” Erin recalls, “as if he were going through a detoxification reaction. At the same time, he had his first formed, regular bowel movements. His sleep improved.”
Other DAN!-recommended treatments include detoxification to remove heavy metals and other suspected pollutants, nutritional supplementation, and sometimes off-label use of anti-inflammatories, antivirals, and allergy medications. These so-called biomedical treatments range from relatively inexpensive dietary changes costing a few hundred dollars a month to doses of antifungal drugs that can cost several hundreds of dollars. Many DAN! supplements play critical roles in the pathways studied by scientists like Jill James. DAN! practitioners are, of course, leaping into the deep end of the pool before science has truly proved these treatments effective, but there are many anecdotal cases of improvement.
Not surprisingly, there has been criticism of the biomedical approach, especially when doctors promise too much or parents hope too desperately for recovery. As James notes, one mother killed herself after seeking every possible treatment for her autistic daughter to no avail, causing a furor among parents with autistic children.
Some children just do not get better, no matter what the intervention. Elizabeth Mumper is CEO of a group called Advocates for Children and former director of pediatric education at the Lynchburg Family Practice Program affiliated with the University of Virginia. Of the 2,000 children in her practice, about 400 have autism spectrum disorders. She describes one boy whom “I have not helped despite my best efforts. He is 17 and still nonverbal and has horrible, erosive esophagitis in spite of the fact that he works very closely with a gastroenterologist. He has to sleep standing up and leaning over his dresser because of the pain, and he has very idiosyncratic reactions to medications. And even though he is nonverbal, he can type anything to me. He’s alpha-smart. The horror is that he’s trapped in a body that doesn’t work.”
“I hate the term ‘full recovery,’ ” James adds, “because of this false hope. Some children do lose the diagnosis, but that’s rare. I don’t think that should be out there as a goal. We need to accept [the kids] and love them for who they are—because they are lovable. They’re quirky.”
