Spectrum of hope: Early diagnosis aids autism treatment

New treatments and therapies offer optimism to physicians and families coping with the autistic spectrum of disorders.

By Victoria Stagg Elliott, AMNews staff. April 7, 2003.

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When Richard Solomon, MD, a developmental and behavioral pediatrician, started practicing medicine 20 years ago, the idea of building a whole practice around treating children with autistic spectrum disorders was not a practical one. There weren't enough of these children around, and there wasn't much he could do for them anyway.

"Back then, it really wasn't that well-known as a condition," Dr. Solomon said.

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But times have changed. Several studies suggest that the disorder's prevalence is on the rise. And a long list of treatments and interventions show promise. This possibility underscores the importance of primary care physicians -- the first in the continuum of care, the doctor that can put these patients on a path that offers hope.

Treating these children is all Dr. Solomon does as the director of the Play and Language for Autistic Youngsters (PLAY) Project at the University of Michigan in Ann Arbor. And there is no shortage of those who require his services. Several other autism centers also have recently opened doors across the country to address these children's pressing needs.

The Medical Investigation of Neurodevelopmental Disorder (MIND) Institute at the University of California, Davis, completes construction on its first building in April. It will be the country's largest autism-related treatment and research center under one roof.

Meanwhile, in January, the Christian Sarkine Autism Treatment Center opened at the Riley Hospital for Children in Indianapolis and already has an appointment waiting list as long as a year. "We're trying to meet the need and capitalize on the increased prevalence so we can do research and hopefully begin to sort these things out a bit," said Christopher J. McDougle, MD, director of the Indianapolis center and chair of the Dept. of Psychiatry at Indiana University School of Medicine, Indianapolis.

But there is significant debate about whether what Drs. Solomon, McDougle and others are seeing is a true increase in cases or an increase in detection. Some suspect the spike is due, at least in part, to the disorder's shifting definitions and to greater awareness.

"Our diagnostic criteria have changed," said Kathleen McKenna, MD, director of the Psychosis and Special Diagnostic Program at Chicago's Children's Memorial Hospital. "There's no question that more children now receive the label and get services. It's not clear how much of an increase there is really."

Most experts, though, aren't so sure that those reasons completely explain autism's statistical jump.

"[It's] real," Dr. Solomon said. "In Michigan, we've had a 1,500% to 1,600% increase in the last 20 years. This is not just finding it milder and finding it earlier."

Still, autism is surrounded by this kind of mystery. It is also a disorder ripe for redefinition and easily splintered into several other distinct diseases, marked more exactly by symptoms and cause. And this is precisely one of the areas where considerable investigation is being pursued. In December 2002, for instance, UC Davis, with funding from the MIND Institute as well as the National Institute of Environmental Health Sciences and the Environmental Protection Agency, started recruiting 2,000 children to examine the complex combinations of environmental and genetic factors. Many suspect some such mix may be the condition's trigger.

"Our ultimate goal is to understand common patterns of dysfunction in autism and clarify how toxins contribute to abnormal neurodevelopment so that we can develop rational strategies for intervention and, hopefully, prevention," said Isaac Pessah, PhD, professor of molecular biosciences at UC Davis.

For now, this is clear: Whatever the cause of autism, and its increase in diagnosis, the medical and economic burdens are significant.

School district budgets are straining because of the services they must provide for children with the disorder. Effective therapies -- medical and educational -- take 20 to 30 hours a week or more, much of it not covered by insurance. Costs for some of the more intensive modalities run $40,000 a year and beyond. Sometimes reimbursement is not available or is limited because autism is considered a mental rather than physical disorder. And families are strained by the pressure that ultimately falls on their shoulders.

"It's a lot of stress on the family," Dr. McKenna said. "And very often insurance companies tell me things like: 'We believe in short-term therapy.' I sometimes say, 'I'll let you know when I have the cure.' It's very, very wrong."

In addition, treatment is a complex array of choices. What works for one may not work for another. Physicians struggle to find the right blend of behavioral therapy and pharmacologic interventions to at least address some of the child's symptoms.

"I've got some kids who are very hard to treat, and I have others that, as soon as you start to treat them, blossom," Dr. Solomon said.

These treatments also frequently have limited science behind them, although Dr. Solomon expects to publish this year positive results from his program. His program is also attempting to make treatment more cost-effective by training parents to carry out much of the care, teaching them techniques that will allow them to interact with their child and promote the development of language and social skills.

"Unless you're rich, you cannot really afford to hire people to do the therapy, and the schools generally do not provide enough hours," Dr. Solomon said. "Our project, which is very cost-effective, is so important. New cost-effective models have to be sought."

While autism has shifted from a disorder with almost no options to one with numerous treatment possibilities -- albeit no cure -- there is still the question of how to get children what they need as early as possible, when the interventions are most effective.

While many get diagnosed as early as 18 months, some studies suggest the age frequently may be as high as 6 or 7 years, particularly for kids with less access to medical care.

"The average that I'm seeing kids referred to me now is much younger than it was when I started," Dr. Solomon said. "I'm happy if I can get them by 4½ or even 5, but I especially feel bad about the kids I see who are 7, 8, 9. They're beyond the help of most of intensive therapies."

And this brings to light a critical juncture for children with autism. It's the starting point, where the role of the general pediatrician, family physician or other doctor caring for a child is most crucial. Experts say these physicians should not be diagnosing, but should be more aggressively referring for assessment.

"When you survey physicians, they all tell you they screen, but if you actually look at the charts, there's no record that they're screening," said David Mandell, ScD, assistant professor of psychiatry and pediatrics at the University of Pennsylvania in Philadelphia, who researches autism diagnosis and screening issues. "We've not been able to get pediatricians to use standardized instruments on a regular basis, but they've got to handle an awful lot."

There are several screening tools available, although most experts concede there is an even easier and more efficient way to detect a possible developmental problem such as autism.

"All a physician has to do is listen to Mom," said Chris Prater, MD, a family physician and medical director of Orange Grove Center, an agency serving patients with developmental disabilities in Chattanooga, Tenn. "I don't have the time to sit and watch a child for 35 minutes and see what he does. In this day and time, if she thinks there's a problem, we've got so many people who know how to evaluate it and so many interventions that are possible."

Several organizations, including the American Academy of Family Physicians and the American Academy of Pediatrics, have issued papers detailing early screening and offering other assistance for physicians in the primary care setting. First Signs, a patient advocacy group, also launched campaigns in several states hoping to increase early diagnosis by educating parents and physicians about the disorder's early warning signs.

Most experts, though, blame late detection on the shrinking time available for the well-child visit. Also, for all the attention being paid at the moment, autism is still a relatively uncommon disorder. It may not always be high on the list of priorities for a pediatrician or family physician. And parents may not want their child labeled as different than normal. It is not unusual for children to have some sort of developmental delay and then catch up.

"Doctors will sometimes say: 'They're fine, there's a wide range of normal, let's keep monitoring,' " said Lucille Marchand, MD, associate professor in the Dept. of Family Medicine at the University of Wisconsin Medical School, Madison, and the mother of a child with autism. "Sometimes you can monitor them for too long and not really get the evaluation that the child really deserves. As a parent, even though I'm a doctor, I didn't want my child to be abnormal. I had great plans for him."

The impact on general practice

But a referral for assessment also can bury a physician in paperwork from insurance companies, school systems and agencies providing services for children with disabilities.

"The sooner you can get treatment, the better off you're going to be," said Norman "Chip" Harvaugh, MD, a pediatrician at Children's Medical Group in Atlanta. "But you don't want to refer kids, because you know what's going to happen," he said, describing a common reaction. "You will have an avalanche of paperwork, and you wonder why you opened your mouth."

Scientists are working toward a blood test that could indicate risk for autism and make screening and diagnosis easier, although none is considered imminent. Regardless of this research, the condition's prevalence creates challenges for the physicians who treat these youngsters' everyday problems. When an autistic child breaks his arm, he's more likely to end up at his pediatrician than the doctor caring for his autism. And that requires special steps.

"They still see me for their checkups," said Dr. Harvaugh, who is also on the AAP's Committee on Practice and Ambulatory Medicine. "You've got to engage them in some babble first, and then it takes you three times as long because otherwise they won't let you do it."

And even if autism prevalence in the general population is not high, fear of autism and fear of a link to childhood vaccines -- discounted by science -- is epidemic.

"In one out of 10 checkups, I will get someone coming in the door saying, 'I heard that vaccines cause autism.' Right then, you've lost 10 minutes in the room, having to explain to them that it doesn't," Dr. Harvaugh said.

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