Understanding autism

If Raymond Babbitt, the middle-aged, autistic savant played by Dustin Hoffman in “Rain Man,” had been seen early in life by Dr. Pauline Filipek, he probably wouldn’t have been institutionalized.

But the film would have lost its central conflict, which explores how Tom Cruise’s self-centered character, Charlie, learns to love a brother who is locked into a life of inflexible routines and repetitious behaviors, and whose ability to communicate and interact is severely limited.

Filipek, associate professor of pediatrics and neurology at the UCI School of Medicine, is a leading researcher into the causes and treatment of autism. She believes “Rain Man” helped to counter stereotypes and increase awareness of this complex neurological disorder.

“The film really opened people’s eyes, because Raymond was very bright,” Filipek says. “He had been in an institution all his life, but he could have functioned at a much higher level with proper attention.”

TEACHING AWARENESS

The key to expanding possibilities for people with autism —and the goal that Filipek pursues in her medical practice and national leadership activities — is early diagnosis and treatment.

As many as one in 150 children ages 10 and younger may be affected by autism or a related disorder. Children often are not diagnosed until age 5 or 6, even though symptoms usually appear at 12 to 18 months. Filipek’s efforts to promote diagnosis as early as infancy include chairing a committee for the American Academy of Neurology and the Child Neurology Society, which recently developed national standards for screening and diagnosing autism.

“With early intervention, many children with autism can blend in by their school years,” says Filipek, who also is leading the development of national standards for autism treatment. “This is the first generation that is getting the amount and type of attention they need — and getting it early.”

TODDLERS TO TEENS

As public awareness increases, Filipek’s patients are getting younger. Among them: a 4-month-old who stopped making eye contact with her parents, a 1-year-old who stopped responding to his name, and many other infants and toddlers who seem disconnected from their surroundings and loved ones.

Filipek sees her patients at an autism center in Orange called For OC Kids. She established the center in September 2001 with funding from the Children and Families Commission of Orange County. The center provides early diagnosis and treatment, and education for physicians and parents.

As doctors work to diagnose autism earlier, researchers look for causes, focusing on anomalies in brain development, possible genetic links and environmental factors.

Filipek uses magnetic resonance imaging to study brain development in children with autism. She and her colleagues have received National Institutes of Health grants totaling more than $6 million for autism research. UCI is part of an international collaborative network of 24 academic centers established in 1997 by two NIH institutes to study the neurobiology and genetics of autism.

Dr. Nancy Minshew is a child neurologist and associate professor of psychiatry and neurology at the University of Pittsburgh, which also is part of the collaborative network. Minshew notes that Filipek is one of only a few neurologists conducting autism research. She says Filipek’s groundbreaking work has revealed how an early acceleration of growth in the brain can result in autism symptoms by interfering with the delicate emerging wiring that enables toddlers to speak, play with toys and be social.

“If the brain grows too rapidly, these fine connections get scrambled and don’t develop,” Minshew explains. “Dr. Filipek is among the first to do neuroimaging autism studies. Her discovery that autistic children have larger-than-average brains is one of the most important findings in this field in the last decade.”

Filipek is optimistic because children with autism are increasingly being diagnosed early, when behavioral and language therapy can make an enormous difference in how they function throughout their lives. “You have to teach children with autism what comes naturally to a typical child — even how to play — but they can learn,” she says.

Despite progress, there are still many Raymond Babbitts who have not been diagnosed or treated. For example, Filipek recently began assessing the needs of a 17-year-old boy who was clearly autistic but had never been diagnosed.

Can she help him? “I hope so,” she says, knowing the challenge will be significant.

Her patients’ progress is measured in small increments, and each step forward is cause for celebration. Filipek recalls a 4-month-old who wouldn’t make eye contact and didn’t want to be held. She seemed completely detached from her mother. After three months of intensive therapy, a breakthrough came in Filipek’s office when the baby started to cry as she was being examined. Filipek picked her up to offer comfort, and the baby twisted herself around until she could see her mother, and then reached out to her. “It was a great moment,” Filipek said. “Everybody in the room started crying.”

TYPICAL CHARACTERISTICS OF AUTISTIC CHILDREN
• Difficulty relating to people, objects and events
• Repetitive movements, such as rocking and head-banging
• An insistence that the environment remain unchanged
• Little or no eye contact
• Limited verbal and non-verbal communication skills
• Unimaginative or unconventional use of toys and other objects
• Severe impairment of social interaction and development
• A tendency toward seizure disorders

For OC Kids: 714.939.6118, forockids@uci.edu,www.forockids.org