New Research Into Autism Offers Insights, Practical Help

Michelle Rowe, a health services professor at St. Joseph’s University in Philadelphia, likened individuals affected by autism to snowflakes: “No two are alike.”

As noted in the first series on autism that ran in the February 2007 Medical Section of The Washington Diplomat, diagnoses of autism or other Autism Spectrum Disorders (ASD) are on the rise worldwide. According to a federal survey released last month, approximately one in every 150 children in the United States has autism or a closely related disorder—a figure higher than most recent estimates. But whether the skyrocketing number of cases represents a real increase or is simply a reflection of better diagnosing tools remains a point of contention.

People who have an autism disorder have difficulties with communication and social functioning that range from mild to severe. They may have limited speech or limited interests, may perform repetitive behaviors such as arm flapping or endlessly spinning small objects, and some might even have an unusually strong mechanical talent.

According to Catherine Lord, a professor at the University of Michigan’s Autism and Communication Disorders Center, toddlers showing signs of autism will typically not talk or vocalize very much. They’ll use fewer gestures, limit eye contact, and engage in less imaginative play than others who are the same age.

Diagnosing the disorder early on is a good thing, Lord emphasized, because of “neural plasticity,” which means that the brain in fact can be changed—most easily in the early years of life. (Just think how quickly children learn another language compared to most adults.)

In the case of autism, early help has been “consistently associated with an increase in IQ scores of 10 to 20 points and with improved language, particularly among children with milder [disorders],” Lord said.

Genes vs. Environment Riddle What causes Autism Spectrum Disorders? “Most experts agree that there is a genetic predisposition to autism,” Rowe of St. Joseph’s University said. “Yet, several studies have now shown that in many cases the autism … is likely triggered by some environmental factor producing an inflammatory response in the body.”

Rowe explained that family members of individuals with autism often have a history of diseases that produce an autoimmune response and cause inflammation in parts of the body, such as rheumatoid arthritis.

According to Lord, “The nature of genetic risk for ASD is not yet well understood.” What seems to be passed along, she said, is a risk for social, communication and behavior problems, which may show up as severe autism, as Asperger syndrome (where an individual has social deficits only), or as moderate language difficulties.

To help unravel the genetic riddle, researchers from around the world have joined up to create a consortium known as the Autism Genome Project (AGP). More than 100 scientists from 19 countries are studying DNA from autistic individuals in 1,200 families. Their initial results, reported in the journal Nature Genetics in February, showed that neurons involved in brain communication and a site on chromosome 11 seemed to play an important role in autism.

However, that’s just the start. “Autism is an extremely diverse condition,” the researchers emphasized. “Our findings suggest that autism has numerous genetic origins, rather than a single or few major causes.” In fact, they speculate that five or six major genes and up to 30 other genes are involved—and scientists around the world are working furiously to pin them all down.

Just last month, genes in mice that are comparable to genes on human chromosome 7 were newly implicated in autism disorders. In studies done at the RIKEN Brain Science Institute in Japan, mice that lacked a protein associated with these genes were hyperactive and had an impaired rodent social life—the equivalent of a human inability to figure out how to fit into a group without offending someone or getting along with others.

Because of this ASD diversity, some biologists agree with anthropologist Roy Richard Grinker (profiled in the February 2007 article), who prefers to characterize people with ASD as those with “different kinds of minds,” rather than emphasize dysfunction. Evolutionary biologists think that ASD characteristics could have been useful in some cases as human ancestors evolved—and ASD genes may have been passed along for that very reason.

“Autism spectrum represents human cognitive diversity rather than simply disorder or disability,” said professor Bernard Crespi of Canada’s Simon Fraser University. “Indeed, individuals at the highest-functioning end of this spectrum may have driven the development of science, engineering and the arts through [their] mechanistic brilliance,” their perseverance and their obsessions, explained Crespi, whose work was published in the July 2006 issue of the Journal of Evolutionary Biology.

Similarly, the National Institute of Neurological Disorders and Stroke points out the high capacity of children with Asperger syndrome on its Web site: “Children with AS want to know everything about their topic of interest, and their conversations with others will be about little else. Their expertise, high level of vocabulary and formal speech patterns make them seem like little professors.”

The Immune System Link There’s been a longtime concern that something in the environment, specifically childhood immunizations, could be causing autism disorders. Childhood shots, which cause the immune system to create antibodies to fight diseases such as whooping cough or measles, contain a number of ingredients. Could the Measles Mumps Rubella (MMR) vaccine or something else in immunizations given to young children be triggering autism?

Although an Institute of Medicine review concluded in 2001 that scientific evidence did not support this claim, it cautioned that the committee could not rule out “that MMR vaccine could contribute to ASD in a small number of children because existing epidemiological tools may not have enough precision to detect the occurrence of rare effects.”

Additionally, Susan Swedo’s work at the National Institute of Mental Health, published in the journal Pediatrics in 1994, linked neurological damage in children and obsessive-compulsive disorder to the immune system’s response to a strep virus. Still, a new study that came out of McGill University in Canada last fall again rejected the MMR-autism link, and most experts think the case is closed (see related sidebar).

But the controversy over vaccination opened other doors: All of the attention to the immune system has fueled new and more persuasive lines of research.

In 2004, Johns Hopkins neurologist Carlos Pardo-Villamizar and colleague Diana Vargas found that the brains of some people with autism showed signs of inflammation—that is, activation of the immune system. However, it wasn’t clear whether this was a result of disease, a cause of it, or both.

In January of this year, a cutting-edge conference held at the California Institute of Technology brought together top-notch researchers exploring immunity, inflammation and autism ties, including Swedo and Pardo-Villamizar.

According to a report issued by the Dana Foundation on the meeting, Swedo said evidence of immune system ties to autism is growing, with studies looking at early childhood infections and inflammation or even earlier infections affecting a fetus. Pardo-Villamizar, meanwhile, said new plans for human and animal research emerged from the conference, and many researchers expressed excitement at the possibilities.

The Cal Tech excitement isn’t just academic: Many inflammations, including allergies, are treatable—and that could explain accounts from parents that some children with autism seem to get better with changes in their diets. Inflammation studies could eventually lead to new treatments or even, possibly, a cure in some cases.

As part of this ferment, more and more research is looking for environmental factors that could plug into those increasingly visible genetic vulnerabilities.

For example, the Norwegian Institute of Public Health has teamed up with Columbia University in New York to investigate “interactions between genes and environment in a new and fruitful way” by tracking 100,000 pregnant women over time. The massive study will follow these moms and their offspring from early pregnancy until the children are 18 years old.

Known as the Autism Birth Cohort (ABC) Study, it’s funded to the tune of million by the National Institute of Neurological Disorders and Stroke. Investigators will be looking at infections, toxins, immunological reactions and diet.

Help Here and Now Philadelphia professor Rowe emphasized that early intervention can help children with autism and she wants that fact to be more widely known. And the importance of early diagnosis is one reason why University of Michigan researcher Lord recently wrote a continuing education tutorial, available online at Medscape.com, to train more doctors and nurses to recognize baby autism symptoms.

So what’s out there to help? Experts worry that there are too many quack solutions being marketed on too many worried parents of children with ASD. They urge parental caution and careful research, citing specific examples of methods that have been proven effective.

Two new studies released this March illustrate an intervention backed by good evidence. Video modeling of “good behavior” can help children with ASD develop better social interactions and practical life skills, according to work done by Scott Bellini and Jennifer Akullian at the Indiana Resource Center for Autism.

They confirmed that showing children and adolescents with ASD videos of adults, other children or themselves performing effective or “exemplary” behaviors can improve conversation, play skills and hygiene, among other accomplishments. And the kids liked the videos, Bellini noted, which is one reason why they work.

Oliver Wendt, a Purdue University professor of education, specializes in speech issues affecting children with ASD. He noted that nearly half of all children with autism do not develop functional speech, and that those who do speak may sometimes find it difficult to use language. These children need outlets for their expression.

“Tantrums and inappropriate behaviors at home and school, such as biting or hitting, are very often a result of when a child with autism is frustrated with communication,” Wendt said. “If no one understands what you want, you are going to get angry.”

He offers parents several practical tips, including working with your school system to make sure that your child is being taught several forms of communication. Options include teaching gestures and sign language, teaching the child to select graphic symbols that can indicate their needs or feelings, and providing electronic speech-generating devices.

Also, communicate your child’s personality with educators and clinicians as often as possible. You know your child’s likes, dislikes and breaking points better than anyone. Tipping professionals off to a child’s joys and quirks can help them plan a tailored program.

In addition, don’t fall for hype. Use recommendations from professional organizations, autism centers, support groups and scientifically valid resources to make sure that your child’s education is being carried out with proven practices. Go with treatments that are empirically supported and well documented.

Finally, use tact when communicating your concerns with professionals. Even if you disagree with their methods, most teachers and clinicians want the same thing you do: the best possible education and treatment for your child.

Lingering Doubts About Effects of Vaccination Trouble Parents Although most members of the mainstream medical community have ruled out a link between childhood immunizations such as the Measles Mumps Rubella (MMR) vaccine and autism, many parents and some doctors think the issue is far from closed. J.B. Handley, founder of Generation Rescue, is one of those who remains convinced that there is in fact an MMR connection to autism. Handley’s son has autism and he has refocused his life to find treatments for him. His Web site offers resources and support, although his point of view has fueled controversy.

Handley argues that vaccination-autism studies do not look at the whole picture. “In 1983, the Centers for Disease Control [and Prevention] recommended a total of 10 vaccines for our children. In 2007, the CDC recommends 36, an increase of 260 percent. Yet, no studies have ever been done to compare neurological disorder rates of unvaccinated children to vaccinated children.”

Handley, who’s been interviewed by NBC and other major outlets, pointed out that the CDC could study the rates of autism in unvaccinated children, which is about 5 percent of the population, but they have yet to do it.

“I think it’s been proven that the rise has to do with the environment. The number-one suspect is the more than tripling of vaccines [these children get],” he charged. “I have personally met more than two dozen children who have recovered from autism,” Handley claimed, “and in every case the parents credited biomedical intervention.”

Handley encourages early intervention and combining that with treatments from the biomedical movement, an alliance of parents united by local autism foundations as well as a national organization called Defeat Autism Now! (DAN!). In addition to the vaccine link, the movement draws a causal relationship between autism and disorders in the digestive tract and vitamin deficiencies.

Generation Rescue estimates there could be as many as 30,000 families using biomedical intervention to treat their autistic children and that there are more than 400 DAN! doctors in the United States.

Although the program has stirred hope among hundreds, even thousands, of parents, it has also attracted an equal number of detractors. Jim Laidler, a Portland anesthesiologist with two autistic sons, initially believed in Handley’s work but has since turned into one of his loudest critics, arguing that autism does correspond to a widening definition of the disorder and that major studies have concluded there is no link between autism and thimerosal, a mercury-based preservative once common in childhood vaccines.

In addition, one of Handley’s treatments, called chelation—the use of amino acids to flush mercury and other heavy metals out of the body—was implicated in the death of a 5-year-old autistic boy in Pennsylvania who died of cardiac arrest following an intravenous chelation treatment in his doctor’s office back in 2005.

Chelation, however, has been in use since the 1950s, and Handley, along with many other parents, are pressing the medical community to re-examine this vital issue. “Our son went from the age of 2 and a half, being nonverbal, with no socialization skills, always getting sick and being in extreme pain because of his gut,” he said. “Now that he is 4 years old, he has hundreds of words, he is reading, he is socializing, and he is happy and healthy. This improvement is from biomedical intervention and the DAN! protocol.”

— Victor Shiblie

Resources

Autism Society of America 7910 Woodmont Ave., Suite 300 Bethesda, Md. 20814-3067 Phone: (301) 657-0881 or (800) 3AUTISM Web: www.autism-society.org

Autism Research Institute (ARI) 4182 Adams Ave. San Diego, Calif. 92116 Phone: (619) 281-7165 Web: www.autismresearchinstitute.com

National Institute of Mental Health National Institutes of Health 6001 Executive Blvd. Rm. 8184, MSC 9663 Bethesda, Md. 20892-9663 Phone: (301) 443-4513 or (866) 615-6464 Web: www.nimh.nih.gov

National Institute on Deafness and Other Communication Disorders Information Clearinghouse 31 Center Drive, MSC 2320 Bethesda, MD 20892-2320 Phone: (800) 241-1044 Web: www.nidcd.nih.gov

Generation Rescue Web: www.generationrescue.org

About the Author

Carolyn Cosmos is a contributing writer for The Washington Diplomat.