Studies focus on detecting autism early

Believing swift diagnosis aids treatment, experts are refining new techniques to spot a serious brain ailment.

February 11, 2005|By David Kohn | David Kohn,SUN STAFF

In an exam room at the Kennedy Krieger Institute, 2-year-old Lexi Koller makes her way slowly up a set of toy wooden stairs, holding her arms out for balance. At the top, she stops and breaks into a wide smile.

"Yea! Good girl! You climbed up the mountain!" says therapist Alison Nelson. Over the next two hours, Lexi chases soap bubbles, builds towers out of blocks, looks at books, plays with baby dolls and kicks a soccer ball.

The goal of all this activity: To spot the first signs of autism, the mysterious brain ailment that afflicts more than a million Americans.

The study is one of many around the country focusing on early detection. More and more, scientists and doctors are realizing that symptoms can appear long before the second birthday. Diagnosing the disease in younger children is essential, most experts say, because the sooner therapy begins, the more effective it can be.

So far, Lexi, whose 4-year-old brother, Cory, has autism, shows no obvious symptoms. But siblings of autistic children have a 5 percent to 10 percent chance of developing the disease, far higher than the general population. Researchers will follow Lexi until she's 3, when signs of the disease are usually obvious.

"We want to watch the unfolding of autism," says Kennedy Krieger speech pathologist Rebecca Landa, who is directing the study. "How early do the signs of autism show up?"

During Lexi's two-hour screening, Nelson watches for a range of behaviors, including eye contact (many autistics have a strong aversion to looking directly at another person) and social interaction, such as "joint attention." Most toddlers are attuned to others and will look at an object if another person gestures or gazes toward it. Autistic children, however, tend to ignore these cues.

A decade ago, many autistic children weren't spotted until the age of 4, and often much later. But in the past few years, the age of diagnosis has decreased, says Landa, who is director of Kennedy Krieger's autism center in Northwest Baltimore. Many children treated there are identified before 3.

Researchers say the movement stems from increased awareness among doctors, as well as a concerted push by autism advocacy groups and public health agencies. This month, the Centers for Disease Control and Prevention will roll out a $2.5 million publicity campaign to encourage parents, medical professionals and day care workers to recognize signs of autism.

Landa says many clinicians miss the symptoms. Lexi's brother is a good example: At 15 months, Cory began acting strangely, isolating himself and lying on the floor with his muscles tensed. He hadn't begun talking and didn't like being held, also potential signs of autism. But when Cory and Lexi's mother, Melissa Koller, took her concerns to their pediatrician, he said the behavior was just a phase.

"My pediatrician was very good at illnesses, but developmentally, he didn't pick up on things," says Koller. She and her husband decided to take Cory for more tests, and eventually, at age 2 1/2 , he was diagnosed with autism.

Doctors often don't want to alarm parents by suggesting that a child may be autistic, Landa says. But if the child turns out to be autistic, this reluctance can backfire by delaying diagnosis and treatment.

Cory is now in an intensive therapy program at Kennedy Krieger, and his behavior has improved. He can sit still and pay attention, and he communicates with simple sign language.

"He's picking it up," says Koller, an energetic 34-year-old who lives with her husband in Curtis Bay. But she sometimes wonders how much better her son might be had he been identified earlier.

Although many aspects of autism remain puzzling, scientists agree that sometime between the first trimester of pregnancy and a child's second birthday, brain development goes awry, sending children with the illness into a solitary, often wordless world.

But some autistic children can improve dramatically with intensive behavioral therapy - a variety of techniques that strongly encourages interaction and communication. Most experts believe that recovery gets more difficult as children get older and the brain becomes less flexible, less able to rewire itself.

"They do better with early intervention, they really do," says University of Connecticut psychology professor Deborah Fein. "After a certain point, you probably can't build in brain pathways for normal social behavior."

Not all researchers agree that early intervention is essential. Some autistic children don't respond to therapy no matter when it is initiated, says University of Montreal psychiatrist and researcher Laurent Mottron. And another group improves automatically around the age of 4. Early therapy might seem to trigger this recovery, but it would occur anyway, he argues.

"It's not the therapy," says Mottron. "It happens by itself."

Few researchers go this far, but most, including Landa, agree that early intervention has not been rigorously studied.

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