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Parents are changing autism research

Families push for deeper view of the developmental condition

By Karen Weintraub
Globe Correspondent / March 26, 2012
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On a recent Sunday, while Walt was baking gluten-free cookies, his mother had to remind him to check the recipe, put the eggs away, and close the refrigerator door. But he navigated the oven and timer just fine, and carefully used a spatula to shift the warm cookies from the baking sheet to the cooling rack.

A few minutes later, after a quick, reassuring hug, the 16-year-old resumed the scrapbook he had started that morning, printing out pictures of his favorite Theodore Tugboats, trimming them to fit, and labeling each one.

“I did so awesome,’’ he said excitedly when he was done. He piled five of the now-cool cookies onto a plate, hurried off into another room, and crooned Christmas carols to calm himself down.

Life with Walt alternates between moments of enthusiasm and anxiety, scowls and spontaneous hugs, typical teenage behavior and younger-than-his-age interests.

Diagnosed with autism as a preschooler, Walt went through years of temper tantrums, diarrhea, skin scratching, unpredictable behaviors, and obvious physical pain. A few minutes spent at his airy Groton home reveal both that Walt, now 5 feet 6 inches tall, is not a typical teenager, and that he and his family - including two siblings not on the autism spectrum - manage his challenges with good nature, warmth, and lots of humor. Like many parents of autistic children, Walt’s mother, Sarah Connell has often been ahead of his doctors and caregivers in coming up with new ways to help him.

But science and medicine are catching up with parents’ understanding of the condition, and a more nuanced view is slowly emerging: Autism is not just a brain problem. Many people with autism, which affects 1 in 110 American children, are profoundly unwell, with physical symptoms ranging from sleep disorders to seizures, energy and immune issues to digestive troubles such as those that still occasionally plague Walt. And treating those symptoms can markedly improve the lives of autistic children, even if doesn’t cure them.

“There’s a whole slew of other symptoms,’’ besides the communication challenges, social impairments, and repetitive behaviors that are the core, defining traits of autism, said Dr. Gary W. Goldstein, president and chief executive officer of the Kennedy Krieger Institute, a Baltimore research institute that focuses on disorders of the brain, spinal cord, and musculoskeletal system. “A fair percentage have gastrointestinal problems, at least when they’re young, that may even outweigh the autism.’’

Connell said their lives improved immeasurably when Walt stopped having diarrhea multiple times a day at age 10.

“We found that treating his stomach reduced distressed and autistic behaviors,’’ Connell said.

Treating these physical symptoms might also improve core traits of autism, said Pat Levitt, director of the Zilkha Neurogenetic Institute at the University of Southern California, where those studies are just beginning to examine this question.

People with autism were once thought to be intellectually disabled as well. Goldstein said he used to think that 70-80 percent of people on the spectrum had intellectual deficits; now he believes that number is closer to 5-10 percent, or even lower. Walt, who was recently able to sit through his first IQ test, has normal intelligence, even though he struggles to communicate all he knows.

Every child with autism is different, Goldstein, Levitt, and others said, and so every treatment plan has to be. Andrew W. Zimmerman, director of clinical trials at the Massachusetts General Hospital’s Lurie Center for Autism, said he thinks researchers are just starting to distinguish among different types of autism, which should eventually suggest different treatments.

Though there is no known cure for it, fully one-third of children once diagnosed with autism are no longer considered to be on the spectrum by the time they pass adolescence. It’s not yet clear how many of those children should not have been diagnosed in the first place, and how many improved enough to lose the label. The ones who are most likely to be taken off the spectrum are the ones with the fewest physical symptoms, said Li-Ching Lee, a psychiatric epidemiologist at the Johns Hopkins Bloomberg School of Public Health.

Connell said she doesn’t expect Walt will outgrow his diagnosis.

“I don’t think he’ll ever be not autistic and I’m totally fine with that,’’ she said. “He’s a lovely person partly because he is autistic.’’

Spotting autism early and using Applied Behavior Analysis, a method of teaching missing social and behavioral skills, can be extremely effective, specialists said.

But Walt missed out on early behavioral training because he was not diagnosed until he was 4, Connell said. Because he was affectionate and didn’t rock or flap his hands as many people with autism do, early clinicians hesitated to diagnose him, she said. Now that the range of autistic behaviors is better understood, Goldstein said 90 percent of children on the spectrum can be diagnosed by age 2.

Connell said her pediatrician thought she was wasting her time when she first started taking dairy, then wheat and certain high-sugar fruits out of Walt’s diet shortly after his diagnosis. But the doctor was convinced when he saw how much the young boy’s behavior was improving. Years later, an intestinal exam revealed that Walt’s body was filled with whipworm parasites. (For reasons that are unclear, parasites are a relatively common problem among children with autism. Connell has no idea how Walt got them.) Treating the parasites finally resolved his chronic diarrhea and itchiness.

In middle school, the family had trouble convincing a school psychologist that a child with autism could have enough emotional range to be anxious. But treating his anxiety has enabled him to cope better with new experiences and helped him articulate his concerns in ways others can understand, Connell said.

Goldstein, of the Krieger Institute, said that although a cure is still a long way off, he’s never been more optimistic about the direction of autism care and research. The field, which used to understand little about the condition and not do much beyond make people comfortable, now attracts some of the best and brightest researchers and doctors searching for fundamental causes and treatments.

He credits parents for having gotten scientists’ attention, helping to bring about a steady stream of research, including a provocative parent-funded study published last week in the journal Nature showing that bone marrow transplantation in mice can dramatically improve symptoms of Rett syndrome, a genetic condition that often causes autism.

Until research progresses further, Connell said she will just keep helping Walt be as happy and healthy as possible.

“We can only deal with the problems we’re handed on a daily basis,’’ she said, while Walt sang “The Twelve Days of Christmas’’ in the other room. “Sometimes we handle them well, and sometimes we handle them poorly. We try to learn from our mistakes and try to maintain some kind of normal semblance of life in our family.’’

Karen Weintraub can be reached at karen@karenweintraub.com. Her book “The Autism Revolution,’’ written with Dr. Martha Herbert, is due out Tuesday.

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