NIH Resets Study Plans for Down Syndrome

For the first time in seven years, the National Institutes of Health has updated its plan for research on Down syndrome, including an expanded focus on how to improve students’ learning and memory and help them participate more in K-12 and higher education.

It’s a big leap from even a decade ago, and an acknowledgment, say advocates and experts on the syndrome, that research to improve children’s medical quality of life is in some places outstripping the pace of innovations to improve their educational trajectory.

“Before some of the serious heart issues were solved, the mortality was so high and so young. The longevity has gone way up, and that brings up more issues for research,” said Ricki Sabia, a senior policy adviser for the National Down Syndrome Congress, based in Roswell, Ga. “When my son [now 22] was born, there was no option for college; it wasn’t something even thought about. Now, … there’s something to actually study.”

The NIH is the largest federal funder of research on the syndrome, with an estimated budget of $19 million in 2014, making its priorities critical in setting a path for understanding the condition. When the NIH was implementing its first plan for Down syndrome in 2007, there was no evidence on—and there were few researchers even studying—what causes problems in memory and learning in people with Down syndrome, according to an analysis by the LuMind Foundation, formerly known as the Down Syndrome Research and Treatment Foundation, in Marlborough, Mass.

Longer Life Spans

The need to understand and support students with Down syndrome in school has risen dramatically, in part because children with the condition are more likely than ever to live long enough and be healthy enough to attend.

Down syndrome is caused by a full or partial extra copy of chromosome 21, the smallest human chromosome, which, according to the NIH, is responsible for 200 to 300 of humans’ more than 20,000 genes. These mutations—affecting 1 in 691 babies born in the United States—can cause intellectual disabilities, a characteristic facial appearance, and weak muscle tone.

Up until the mid-1970s, the severe medical conditions associated with Down syndrome—such as leukemia, heart defects, and autoimmune weaknesses—meant that most babies born with it did not live to school age. As the NIH noted, the health advances for those children have been considerable: The average life span of someone born with Down syndrome has risen from 25 in 1983 to more than 60 today.

For schools, that translates to more students with Down syndrome continuing in high school, college, and careers, and more questions about how to include them meaningfully at a time of high-stakes testing and accountability.

The new research plan includes a focus on the complex genetic and environmental interactions that can affect memory and learning in students with Down syndrome.

For example, children with Down syndrome are also at higher risk of having other conditions known to cause problems in learning, including autism disorders; immune weakness that leads to repeated infections and missed school; and obstructive sleep apnea, a condition in which a person stops breathing for brief periods while asleep, reducing oxygen to the brain.

“On one level, there are interrelationships among all this,” said Michael M. Harpold, the chief scientific officer of the LuMind Foundation. “The NIH is trying to get a deeper handle on cognition” through its new research focus, he said.

For example, he noted that one study underwritten by LuMind found students with Down syndrome who had sleep apnea had verbal IQs that were an average of 9 points lower than Down syndrome students with no apnea. The research plan calls for studies of other simultaneous—or “co-morbid"—issues and how they may affect cognition.

“Historically, with intellectual disability, it’s been taken as something of a given that there’s nothing to be done. ... But as we learn more, … the more data we have to develop much better educational and behavioral approaches to improve cognitive function.”

Ms. Sabia of the National Down Syndrome Congress said the focus on how Down syndrome can interact with other issues could also help educators look beyond the syndrome for reasons a student may struggle.

“I don’t think people notice when the kid with Down syndrome has [attention deficit hyperactivity disorder] or something else,” she said. “They say, ‘Yeah, he’s not reading because he has Down syndrome,’ but it’s like, ‘No, not necessarily, because other kids with Down syndrome read, and maybe he has dyslexia.’ ”

Scrutinizing Practice

Emerging research is already finding that common practice for students with intellectual disabilities may not work as well for those with Down syndrome.

A standard early intervention for a baby or child with difficulty learning to speak, for example, is an hour a week of communication instruction, which prior studies have shown to be helpful for infants with intellectual disabilities, broadly speaking. But in a 2014 study in the American Journal on Intellectual and Developmental Disabilities, Paul J. Yoder, a professor of special education at Vanderbilt University in Nashville, Tenn., found that children with Down syndrome needed not one hour a week but five.

“Learning to talk is harder for students with Down syndrome than other children, even when you take into account IQ, developmental age, and chronological age,” said Mr. Yoder. “It’s tempting to think it’s in the child, but that’s not true in this case. It’s that our method of implementing early intervention has not been sufficient.”

In a follow-up study due out later this month, Mr. Yoder and colleagues explore why the time spent in the intervention was so important: Students with the syndrome are typically slower to coordinate communication sounds, gestures, and shared eye gaze, and also slower to learn to close their mouths fully to create specific sounds. Students with Down syndrome in the study who participated in the more frequent training were making speech-like sounds after only three months.

Mr. Harpold of the LuMind Foundation said the NIH research plan is comprehensive, but cautioned that such research projects as tracking the effects of different combinations of disorders along with Down syndrome will be vast, multiyear, and expensive.

“The biggest issue we still confront there is money; the NIH budget has been flat. How much can you do?” Mr. Harpold said.

Raising the awareness among researchers and educators that students with Down syndrome can and want to continue their education will help them, Ms. Sabia said. “Just saying ‘postsecondary’ in [the plan] is an acknowledgment by the scientific community that there is a different future for these young people,” she said.