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Early Hope

By Frank Stephenson

New findings show that autism can be detected in children up to a year earlier than many thought possible.

When Marion Kelley's only child—beautiful, 4-year-old son Jason—was diagnosed as autistic, pangs of anger, then guilt consumed her every waking moment. For months, she would end her days the same way she began them—fighting back tears.

Jason took no notice of his mom's grief, of course. He spent his time as he always did, sitting in stark silence in his favorite chair, staring with expressionless eyes into a world vastly apart from the one known to normal children.

Diana Kincaid finally got the word on her son, Michael, when he turned 7. Yanked from his first-grade classroom for being too disruptive—he couldn't stop talking or sit still even for a minute—Michael had terrorized the teacher of his school's special ed program for more than a year. From a bedlam of kids wearing alphabet-soups of recognized disorders, Michael was finally rescued by an astute clinician. Diana learned that her little boy suffered from Asperger's Syndrome—a mental disorder she was stunned to hear is a form of autism.

Not so very long ago, Diana and Marion and countless other parents of such radically different children as Jason and Michael would never have suspected that their sons were victims of a common malady. In the 1970s, researchers finally realized that autism—first described in the 1940s—is in fact a wide range of mental disorders, not a single illness, that afflicts children (predominantly boys) from birth and often in profoundly different ways.

Today, when scientists (and most physicians) mention "autism" they're talking about a spectrum of mental disorders that can range from severe retardation all the way to quirky genius, including gifted individuals who might even be classed as savants, e.g. Dustin Hoffman's Oscar-winning role in the 1988 movie Rainman.

No one has precise figures on the prevalence of autism among world populations, but given the expansion of the term's definition in the past 25 years, not surprisingly diagnosis of the disability has experienced a sharp increase of late. In the U.S., the Centers for Disease Control estimates that the disorder may be occurring in as many as three or four per 1,000 births. Other surveys put a range on the figure from 1 in 500 Americans to 1 in 2,500. Inexplicably, no matter where the disorder strikes in the world, three out of every four victims are male.

Even though the disorder still is incurable, recent discoveries into the fundamental causes of autism suggest at least the possibility that a cure may someday be found. The prevailing wisdom among scientists is that upwards of 90 percent of autism is the result of faulty genes that somehow block or disrupt the proper growth of nerve cells, proliferation of key biological chemicals or both in the fetal brain (see sidebar, page 13).

But thankfully, with the coming of a new appreciation of the breadth of autism and promising revelations about its genetic origins, also comes new hope for diagnosing the disorder early enough to make dramatic differences in the lives of victims.

A team of researchers within FSU's Department of Communication Disorders is finishing up the most comprehensive study of its kind in the Southeast aimed at detecting autism at its earliest stages in children's development. The multi-year project, funded by more than $2 million in federal and private grants, has uncovered clues that can accurately identify children at risk for autism before their second birthday.

What makes the findings so exciting to researchers is that years of testing autistic kids have shown that if they can be properly diagnosed by the time they're 3, up to half of them can be taught to compensate for their disorders, including learning how to communicate effectively, says Amy Wetherby, the project's designer and director.

"You can make substantial progress in half of the children if intervention begins before age 3," she said. "Wait until they are 5 and it's closer to 10 percent."

Wetherby, a professor of communications disorders who has studied autism in young children for more than two decades, launched her FIRST WORDS Project, as the latest study is known, on a hunch. She reasoned that if autism is present at birth then it should show telltale signs in kids' behavior before ages 3 and 4, when most diagnoses of the condition are made. She designed an investigation to see if the children who would later be found to be autistic behaved differently as infants and toddlers than typical kids.


Amy Wetherby, communication disorders researcher, studies videotapes of young children interacting with staff and family members for early signs of autism.

"That intrigued us," says Sherrie Magill of the Jessie duPont Fund, a Jacksonville-based foundation that helped fund Wetherby's project in 1998. "The idea that by looking at communication in young children she could spot signs of autism was bold."

"Unfortunately, there's no blood test for autism. It's diagnosed by observing how a child behaves. But you have to know what to look for."

And the earlier you find it, the better the child's chances of living a normal life, living independently and being socially capable, says Wetherby.

Wetherby says her research has produced a reliable checklist of behaviors that can alert parents, pediatricians and child-care providers to the presence of autism in toddlers. She bases her convictions on the project's detailed analysis of 500 children living in Tallahassee and its environs.

The children were selected from a group of 3,000 families with children aged from 13 to 24 months. To identify these families, Wetherby distributed one-page questionnaires to parents at health-care and child-care providers and other centers throughout the Tallahassee community.

Once the 500 children were selected, they were videotaped interacting— with their parents and a member of Wetherby's staff. Families were called back annually to chart their children's development. By the time they were 4, old enough for developmental delays to be identified, Wetherby used a carefully designed system of videotaped exercises to identify 36 children with delays that potentially could be linked to autism.

All the tapings included the same sets of interactions—for example, a staff member would show the child a bottle of bubble solution, remove the cap, blow some bubbles, replace the cap and set the bottle on the floor in front of the child. In another test, a clear bag containing four brightly colored toys was placed in front of the child to elicit a response.

Wetherby knew that somewhere buried in the videotapes were the behavioral clues she was seeking. The sleuthing process required hundreds of hours of tedious viewing and reviewing the stacks of videotapes. But eventually, patterns began to emerge in the children's facial expressions and in their reactions to objects, sights and sound.

In the bubble-blowing exercise, most kids responded by picking up the bottle and handing it to their moms, some even asking them to open it again. Others simply knocked the bottle over and pushed it away. Presented with the bag of toys, kids' typical response was to reach into the bag, retrieve a toy and hold it up. Some just withdrew a toy and promptly dropped it.

Wetherby also noticed something else she thought curious-some of the children in the tapes never pointed or held up objects to show. In exploring their world and learning how to talk, one of the first things kids do is to show things, Wetherby knew.

"When your child shows you objects or points to something, you then label it and they learn the words," she said. "Kids with autism rarely point to anything."

A final analysis of the recorded behaviors revealed unmistakable autistic-like behaviors in 18 children, the youngest being just 13 months old. Eventually, Wetherby was able to discern 15 behaviors common to children with developmental delays and autism, and subsequently she was able to winnow these to nine behaviors specific to autism.

"These are precise red flags for pediatricians, child-care providers and parents to know about," she said. "The sooner these children are identified the sooner they can get treatment and the greater the gains they can make."

Wetherby's research will complement a growing body of evidence that a diagnosis of autism is not the stamp of hopelessness that parents once feared. A book-length study by the National Research Council, Educating Children with Autism, (National Academy Press, 2001), shows encouraging results of early-age (before 3) intervention, reporting as much as a 30 percent increase in the number of severely autistic children who learn adequate language skills.

"We know that you can have a major impact on these children," Wetherby said. "But once a child turns 3, many aspects of brain development have matured and it's hard, if not impossible, to undo those patterns. So, the key is finding them as early as possible."