“Reaching In, Reaching Out: Autism in America”
Michael sits on the carpet in a small mirrored room on the Boston University Medical Campus, looking at first glance like an average toddler. His mother watches from a chair along the wall, while a research assistant calls Michael’s name repeatedly in a cheerful voice. But Michael is not paying attention. He’s staring ahead, a distant look in his eyes. The researcher tries to engage him by blowing bubbles and calling his name again. After each attempt to make contact, she marks a chart. Finally, she touches Michael’s face gently as she says his name, but there is little visible response. Michael is not ignoring her. He’s simply living in his own world, unconnected with his surroundings.
Michael’s world is called autism, and in the last decade it has been the focus of increasing national attention. A developmental disorder that emerges early in life, autism affects a child’s social skills, communication, and behavior. The latest statistics from the U.S. Centers for Disease Control show that one in 150 children in the United States is afflicted with an autism-related disorder. As interest in autism has grown exponentially in the last decade, so have research efforts. At BU, scientists are looking for ways to diagnose the disorder early, even in infancy, and they are trying to puzzle out its neurological origins in the hope that one day it can be better treated.
Autism is difficult to pin down. There is no one single diagnosis, and the boundaries of the disorder sometimes seem like moving targets. Often diagnosed around age two or three, its classic signs are linguistic and cognitive deficits, lack of eye contact, social isolation, and lack of communication for much beyond basic needs, according to Helen Tager-Flusberg, a School of Medicine professor of anatomy and neurobiology and director of the National Institutes of Health Autism Research Center of Excellence at BU. “There is a huge variability in its expression,” she says. Other symptoms include obsessive interest in certain things to the exclusion of others, an abnormal need for structure, and certain motor behaviors, such as rocking or arm-flapping.
Photo by Vernon Doucette
In classic autism cases, says Tager-Flusberg, who has been studying the disorder for 25 years, “people have lots of symptoms that make them fit.” There are similar developmental disorders that look like autism, she says, but may be milder. One is Asperger syndrome, in which cognitive abilities are normal, but conversation and aspects of discourse show delays. That and other diagnoses fall under the wide range of what the CDC calls autism spectrum disorder.
“It’s tough, because there’s no test you can do,” says Elizabeth Caronna, a MED assistant professor of pediatrics and director of the Pediatric Assessment of Communication Clinic at BU-affiliated Boston Medical Center. “It’s really a behavioral diagnosis. It depends on a clinician with an appropriate level of specialized training to have eyes that can see the right things.”
Children can have one or two symptoms — some kids might not want to look people in the eye, others might have an obsessive interest in dinosaurs, still others might flap their arms a lot — but the tipping point in a diagnosis is impairment, says Caronna, whose BMC clinic assesses several hundred children for autism each year. “We try to consider things very broadly, thinking about developmental delays, language delays, and what might look like it, and we consider other issues, such as anxiety or depression,” she says. “You have to have some level of impairment.”
Photo by Vernon Doucette
But it seems an increasing number of children do have autism. For a disorder that was first described only in 1943, the current statistics on children affected by autism spectrum disorder are extraordinary. Tager-Flusberg and Caronna both caution that it’s important to keep in mind that the definition of autism is steadily broadening, and with heightened awareness of the disorder, more parents and pediatricians are on the alert for symptoms. Indeed, a study published two years ago in Current Directions in Psychological Science argues that the rise in autism cases is mostly the result of “purposely broadened diagnostic criteria” in the Diagnostic and Statistical Manual of Mental Disorders, the bible for mental health assessments. And most experts agree that children who would have been diagnosed with mental retardation or childhood schizophrenia in previous generations are now more often categorized as autistic.
The Words to Say It
Any way you count, a vast number of children are affected by autism-related problems. For Tager-Flusberg, who has received several million dollars in funding from the NIH for autism research, early assessment of the disorder is critical. That’s because with current behavioral treatments — mostly centered on intensive efforts to establish communication with the autistic child — many symptoms of autism can be mitigated, enabling the children to lead more normal lives.
“We don’t know how to predict which of the children are going to have the better outcomes when we first diagnose them,” she says. “A small number will adapt and be OK, but it’s a very small minority. The majority of children don’t have full, independent outcomes, and therefore it behooves us as a society to make sure that all children who are at risk for autism be identified and that we develop for them the kinds of interventions that are going to influence their course of development.”
Tager-Flusberg looks first at language. “It’s one of the core domains,” she says. “Language is the single best predictor of how well you’re going to do in later life. People with better language skills are able to use them to gain the skills they don’t come to naturally,” such as social skills. “I’m interested in the question, what predicts who’s going to have a better language outcome?” For the past two years she has monitored a group of almost 200 toddlers, who were enrolled in her study when they were between 18 and 33 months old. Michael is one of them.
Children like Michael are tested by Tager-Flusberg’s staff in a room with two-way mirrors on the Medical Campus. With a parent close by, a researcher tries to engage the child in conversation and in play — blowing up a balloon and letting it go, blowing bubbles, calling out the child’s name — all in an effort to test language, imitation, motor and nonverbal cognitive abilities, and ability to respond to social or communication signals. The signals, Tager-Flusberg says, include such things as making eye contact and sharing interest or pleasure in an activity. The children come back annually for another round of testing.
When the children in the study were first seen, they were all essentially nonverbal. By the time they were three, they began to show much more variability in language ability, and by age four their developmental patterns were becoming clear.
“Some really stay essentially flat, making very few gains, and some make huge gains,” Tager-Flusberg says. “What are the things we saw that might predict these different outcomes? If we knew that, then a language assessment at age two could incorporate not just looking at their language — because their language is terrible — but looking at other things that might be related.”
Preliminary data from year two suggest that toddlers with better imitation skills, such as copying an experimenter’s action, and early social gestures, such as shaking their head for no, are more likely to show significant gains in language one year later.
Now Tager-Flusberg and her colleagues are trying to push back the point of diagnosis and figure out how to spot infants at risk for autism. Because studies have shown a fairly strong genetic link to the disorder, she is looking at infant siblings of children with autism. “You simply cannot diagnose the disorder until 12 months or later — you just don’t have enough language or behavior to even look at, that early on,” she says. “We absolutely don’t know what the criteria would be for an autistic baby.”
By closely following these infants at risk for autism — and a control group as well — the researchers hope to discern behavior patterns that might provide clues about which infants go on to develop autism.
But that also raises a question: what is the balance between predicting that a baby will have autism and the risk of labeling and pathologizing the baby at such an early age?
“I think I would be more comfortable in saying that this is a child at very high risk,” Tager-Flusberg says. With the possibility that earlier treatment will mitigate later symptoms of autism, she is strongly in favor of a preventive approach. She draws a parallel with developments in cardiovascular disease prevention. “Thirty years ago, you had a heart attack and then you had cardiovascular disease. Now we don’t wait for the heart attack; we monitor all the risk factors associated with it and take preventive measures. We want to do the same in autism.”
Nancy Wiseman (COM’81) agrees that early diagnosis is crucial. The author of Could It Be Autism? (Broadway Books), Wiseman has a daughter who was diagnosed with autism at age two. “She had no words, she had no eye contact, she had no play skills or social skills,” says Wiseman. “I knew I needed to do something about it quickly. Within just the first week with early intervention, I saw the progress she could make — she spoke her first word. I saw with intensive round-the-clock intervention you could prevent a developmental delay from progressing into a full-blown disorder such as autism if you catch it early enough.”
Early intervention, which is provided by state public health services, comes in many varieties, but the two main approaches are behaviorally based, such as applied behavioral analysis (ABA), or more relationship-based, such as Floortime, a form of therapeutic play developed by psychologist Stanley Greenspan. MED’s Caronna says that research suggests that ABA is more effective, but she adds that “it seems that kids do better with one type or another, and some kids might do well with all types, and some kids might make no progress regardless of how high-quality the services are.”
For her child, Wiseman chose Floortime. “I did very intensive Floortime for hours every day,” she says. “That’s basically trying to get connected with the child at their own pace and own interest, getting an interaction going. It’s that social reciprocity that is key to getting these kids moved along the developmental ladder. If that’s not in place, the other rungs of the ladder don’t fall into place.” Wiseman, who founded the autism advocacy group First Signs, notes that speech and language therapy and occupational therapy are also widely used in early intervention programs. Thanks to the intensive early intervention, she says, her daughter’s linguistic and social skills improved substantially. Having seen those kinds of results, she urges parents to have their children tested early and get quick treatment.
Part two of “Reaching In, Reaching Out: Autism in America” will appear tomorrow on BU Today.
Taylor McNeil can be reached at firstname.lastname@example.org.