Understanding Down syndrome

Jim Gillis picked up the remote control for the television and couldn't operate it. Immediately, his mother, Ann Gillis, knew something was wrong.

For 47 years, he had lived with Down syndrome, but the symptoms of a second condition his mother dreaded he would develop -- Alzheimer's disease -- were beginning to show.

Now 52, Gillis lives in Milton with four other people with mental retardation, and has lost most of the skills that once helped him hold down a job at a grocery store and do his own laundry.

For years, doctors have known about the genetic link between Alzheimer's and Down syndrome. Specialists say virtually all brain autopsies of adults with Down syndrome show lesions pointing to Alzheimer's. But as the life expectancy of people with Down syndrome has increased dramatically to 55 and older, state officials are realizing that they need to learn more.

This fall, the state Department of Mental Retardation will begin surveying and profiling the 30,000 people who receive services from the agency to find out precisely what causes their mental retardation. One focus of the $23 million program is to identify those who have Down syndrome and track them as they age.

"We need a clearer picture of who we are serving and a better understanding of what we need to put in place to better support them," said Sharon Oxx, the department's director of health services. "We don't have any hard numbers."

For Ann Gillis, who struggled for two years to get the state to provide her son round-the-clock attention, the news is gratifying.

"It's a long time coming," she said. "I'm absolutely thrilled they're doing the count and paying more attention to it."

In the 1970s and early 1980s, people with mental retardation were moved out of institutions and into private homes, Oxx said. As part of this effort to mainstream those with mental retardation, advocates also began pushing state agencies to focus more on a person's abilities and less on their conditions, she said. The agencies complied.

"There wasn't so much of an emphasis on the diagnosis. People didn't want labels as they moved into adulthood," Oxx said. "It didn't matter if you had Down syndrome. That became almost extraneous data."

But that data is now crucial, she said. Counselors working with people with Down syndrome need to spot early warning signs of Alzheimer's to ensure they receive proper treatment. Knowing that a certain segment of the population is extremely likely to develop Alzheimer's can help the state determine what kind of residential facilities or day programs might be needed.

The study, which will be 70 percent reimbursed by the federal government, is expected to take about 2 1/2 years to complete.

More than 350,000 Americans have Down syndrome, according to the National Down Syndrome Society.

As they and others with mental retardation age, learning more about them is a priority for state agencies across the country, according to Bob Gettings, executive director of the National Association of State Directors of Developmental Disabilities Services.

About two weeks ago, the association, with the Rehabilitation Research and Training Center at the University of Illinois at Chicago, released surveys to all 50 states.

They asked state agencies for demographic information, the services provided to people with both dementia and mental retardation, and how the agencies collaborate with departments on aging, Gettings said.

"It's becoming a bigger and bigger issue as time goes along because of the demographic forces that are at work here," he said.

Not only will people with Down syndrome develop Alzheimer's sooner than others, but their symptoms can be different, said Dr. Florence Lai of McLean Hospital, who focuses on patients with Down syndrome and Alzheimer's disease.

For example, seizures are much more common in people with Down syndrome and Alzheimer's, she said.

Doctors, in general, also need more information, particularly because people with Down syndrome show other premature signs of aging, Lai said.

"Hearing loss, cervical and neck arthritis, menopause, a lot of things come very early," she said. "The more people know about what's going on with people with Down syndrome, the better off those people are going to be in their treatment."

A half-century ago, people with Down syndrome were seldom expected to live past age 12, said Dr. Allen Crocker, a developmental pediatrician at Children's Hospital in Boston who has treated children with disabilities for 50 years.

Crocker said it is valuable for researchers to gather more information about this population and the link to Alzheimer's. But he hopes, too, that better understanding of the disease won't cause parents of children with Down syndrome excessive concern.

"It's a big and important and exciting life," he said. "To sit around and say there is a complication in the end is regrettable and sad."

Maria Cramer can be reached at mcramer@globe.com.