What's Ahead: New Autism Research and Living with Autism
By Nancy Wurtzel
In the 1940s, a group of psychiatrists announced they had identified the cause of autism: Cold, aloof parents – particularly mothers – who just didn't love their children enough. Even Dr. Leo Kanner, an early autism researcher who had conducted an acclaimed study of children who had autism, threw his support behind the idea.
Instead of being roundly discounted, this deeply flawed idea persisted for at least two decades, thereby causing any actual autism research to stagnate.
Thankfully, not everyone agreed. Bernard Rimland, a psychologist who had a child with autism, was convinced the condition wasn't related to inadequate parenting, but rather to neurology. His 1964 book, "Infantile Autism: The Syndrome and its Implications for a Neural Theory of Behavior," helped open the door to a new understanding of the disorder.
However, many in the medical field remained highly skeptical that genetic factors played a substantial role.
This attitude changed as more research, such as the often-referenced same-sex twin study conducted in the U.S., and a later 1989 twins study conducted throughout five Nordic countries – Denmark, Finland, Iceland, Norway and Sweden – which determined autism has a hereditary component.
At long last, the scientific community and the general public was paying attention to the disorder. Money, resources, and investigators began to flow into the autism research space.
The race had begun to unlock the mystery of autism and find a cure.
Fast forward to today.
After billions of dollars and decades of exploration, an autism cure has proven elusive. However, even without the "big breakthrough," investigators have uncovered a treasure trove of valuable information about what is now called the autism spectrum disorder (ASD). For example, researchers now think autism, much like cancer and Alzheimer's disease, may not have a single answer. Instead it happens because of highly intricate interactions between hundreds of genes and many environmental factors.
With these new perspectives, researchers are changing their approach, asking different questions, examining previous research, and thinking outside the box.
Here is a sampling of research and innovation taking place now;
THE GENDER FACTOR
Of special interest to many autism researchers is the influence of gender. Since boys are diagnosed with autism almost five times as often as girls, many investigators are asking, 'Do girls carry genes that protect them from ASD?'
One of the largest studies looking at this very question is the Autism Sisters Project, which is a long-term genetics research study of 3,000 families with at least one female child who has autism and at least one who does not have the disorder. The goal is to determine if the biological differences between males and females might protect a child from developing autism.
Joseph Buxbaum, director of the Seaver Center at New York's Mount Sinai Hospital, and one of the study's leaders, noted that there may be a protective factor in girls, such as a protein or another biological marker.
This could be likely since girls, "need to have twice as many mutations on average to actually manifest with autism," said Buxbaum. "If we have a pathway in the brain that is actually protecting against autism we can stimulate that pathway through medicine. Then, we think, we can actually reduce the risk and ameliorate the manifestations of autism," he said.
Another aspect being examined through brain imaging research is that some girls have the same genetic mutations, but do not show any autism symptoms.
"Autism may not be the same thing in boys and girls," said Kevin Pelphrey, an autism researcher at George Washington University. "Even in girls who clearly have autism, brain regions involved in social behavior that are normally affected are less severely impaired."
RESEARCH BEGINNING EARLIER
A long-running study at the University of California, Davis tracks a vast range of genetic and environmental factors in children as young as two years old, comparing those children who develop autism to those that do not.
Other research efforts start even earlier, recruiting mothers who already have one child with autism, and then following subsequent siblings, including full and half siblings. Often dubbed the "Sibs Studies," this ongoing research is currently being pursued by several teams of researchers.
MORE STUDIES FOCUSED ON EARLY SCREENING
Early screening is one of the most important autism interventions. New tiered, age-appropriate studies are aimed for the infant or child.
For infants, these interventions are usually conducted by parents who may require an hour a week of training to work with their infant who is showing warning signs, such as a lack of eye contact or little interest in social interactions with other people.
This very early involvement helps jump-start first relationships, according to Geraldine Dawson, director of the Center for Autism Diagnosis and Treatment at Duke University School of Medicine. "What we want to do is help coach parents to use strategies that can help the baby engage socially," Dawson said.
Another study, this one at McGill University in Canada, looked at the brain connectivity in 260 infants at 6 and 12 months, all babies had either high or low risks of autism.
"Our goal was to discover when and where in the brain the network inefficiencies first appeared," said John Lewis, a researcher at the Montreal Neurological Institute and Hospital and lead author of the study findings.
"The results indicate that there are differences in the brains of infants who go on to develop autism spectrum disorder even at six months of age, and that those early differences are found in areas involved in processing sensory inputs, not areas involved in higher cognitive functions." Lewis said. "We hope that these findings will prove useful in understanding the causal mechanisms in autism spectrum disorder, and in developing effective interventions."
Money, of course, is needed to test and track new ideas and theories.
The National Institutes of Health announced it is awarding nine grants over the next few years to support large-scale multidisciplinary research on autism. The nearly $100 million in grants will be aimed at evaluating universal autism screening in toddlers, testing parent intervention, looking for early signs of the developmental disorder in the brains of fetuses and newborns and tracking these differences into adulthood.
"Autism spectrum disorder has myriad environmental, genetic, neurological, and behavioral components," said Diana Bianchi, director of the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development, one of five institutes funding the program.
"These awards will allow us to understand how autism differs in girls versus boys, to develop earlier methods of screening and to improve treatments based on specific symptoms," Bianchi said.
INVOLVE THOSE LIVING WITH AUTISM
Early studies used those with autism in their research, but seldom asked permission or involved them in any meaningful way.
Today, rather than distancing the research from those with the condition, investigators actively involve them as well as their families. "Autistic people should be seen as valuable collaborators in your work, rather than as passive subjects," said Steve Silberman, author of the book Neurotribes.
Although there are many avenues for learning about research projects, here are two websites that are helpful in connecting families to projects seeking participants: Organization for Autism Research (OAR) and the Interactive Autism Network (IAN).
Families and those living with ASD can also help further research by registering at Autism BrainNet. This nonprofit is acquiring postmortem donated brains and tissue from people who lived with ASD, with the goal of furthering research to determine the neuropathological aspects of the disorder.
Brain tissue is vital to autism research as it will give investigators the chance, "to study the disease in a way that is currently not possible, and with that new information to open up avenues for potential treatments," said Dr. Patrick Hof of the Icahn School of Medicine at Mount Sinai Hospital.
TAKING SECOND LOOK AT EXISTING RESEARCH
Autism researchers are also taking a second or even a third look at existing research to see if they can identify clues in older studies. This fresh look at data can answer critical questions or uncover valuable information.
Some research is actually new research of previous studies. Investigators are returning to previous studies to see if anything was missed, or if newer research can help interpret the older research. Looking at results from different angles, asking new questions, following up after a study is completed. Scientists are asking: What could we have missed?
One example is the Ichan School of Medicine, which recently reexamined data from a massive Swedish longitudinal study of all children born in Sweden between the years 1982 and 2006. The study included over 2.6 million pairs of siblings, 37,570 pairs of twins and nearly a million half-siblings.
Published in JAMA, the study concluded that while both environment and genes have an important role in autism, as much of 83 percent of the disorder is inherited.
INVESTIGATORS COLLABORATE
Major clinical research programs, funded by both the government and the private sector, are looking at autism from new angles and collaborating whenever possible.
One example is MSSNG (pronounced missing) created by Autism Speaks. This study has sequenced whole genomes from 7,000 families affected by autism, and the results have been shared and are now being analyzed by 40 leading research institutions in nine countries around the globe.
Spectrum, which bills itself as "the leading source of news and expert opinion on autism research," is also a platform for sharing perspectives and encouraging collaboration. Launched in 2008, the online-based Spectrum publishes "comprehensive news and analysis of advances in autism research." Its editors examine published research, interpreting the science and putting information in context.
Other autism research organizations include the International Society for Autism Research (INSAR), which helps researchers coordinate research around the globe; SPARK, a platform for connecting individuals and families with researchers; The Autism Science Foundation, a nonprofit that supports scientific funding and education to the general public; and the Autism Society, which bills itself as a grassroots organization focused on improving the lives of those affected by the disorder.
AUTISM: A LIFELONG CONDITION
For decades, autism research – which now totals more than $400 million annually — was focused almost entirely on finding a cure. However, with half a million individuals with ASD turning 18 each year, much more needs to be done to help adults living with the disorder.
After children age-out of the public education system, the tracking and support mostly ends. Families and those living with the condition are usually left to fend for themselves, and many adults living with autism feel isolated and alone. Incidental information shows that some adults with autism can thrive, while others struggle mightily.
Even the basic facts, such as how many are living with autism, if they are employed, where they reside, what services they access, and how long they live is mostly unknown.
"When you look at early intervention for autism, there are lots of different models, and we have a pretty good sense of evidence-based practices for young children with autism," says Leann Smith, whose research as a developmental psychologist at the University of Wisconsin at Madison focuses on adolescents and adults with autism and on their families. "There isn't anything analogous to that for adults."
A few organizations aim to change that.
The Autism Society of America, which was founded in 1965 by clinicians and parents – all of whom had autism in their families – works to maximize the quality of life for those living with the disorder. Their online database, Autism Source, provides nonbiased information on a wide array of topics.
"The years immediately after high school are when people create an important foundation for the rest of their lives," said lead investigator Paul Shattuck, Ph.D., of Washington University's Brown School of Social Work, in St. Louis. "Yet many families with children with autism describe leaving high school as falling off a cliff because of the lack of services for adults with ASDs."
More needs to be done to help those who are living and aging with autism. Even with all of this research, "astonishingly little" is known about the lives of adults with autism, noted Neurotribes author Silberman.
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