NIH Develops Down Syndrome Research Plan NIH Develops Down Syndrome Research Plan
National Institute of Child Health and Human Development

The National Institutes of Health has developed a research plan to advance understanding of Down syndrome and speed development of new treatments for the condition, the most frequent genetic cause of mild to moderate mental retardation and associated medical problems. The plan sets research goals for the next 10 years that build upon earlier research advances fostered by the NIH.

“Through the years, the NIH research effort has led to increased understanding of Down syndrome,” said Elias Zerhouni, M.D., director of the National Institutes of Health. “We are now poised to capitalize on these advances and improve the health of people with Down syndrome.”

Down syndrome occurs in 1 out of every 800 births in the United States. Down syndrome most frequently results from an extra copy of chromosome 21 in the body’s cells. In most cases, this extra chromosome comes from the mother. In some cases, forms of Down syndrome can result from just having an extra portion of chromosome 21. The chance of giving birth to a baby with Down syndrome increases as women age.

Infants with Down syndrome have certain characteristic physical features, such as short stature, distinctive facial features and are more likely to have health conditions like hearing loss, heart malformations, hypertension, digestive problems, and vision disorders. Although Down syndrome is the most common cause of mild to moderate intellectual disability, the condition occasionally is severe. People with Down syndrome are also much more likely to die from infections if left untreated.

The NIH’s National Institute of Child Health and Human Development convened a working group of NIH scientists. Through a public comment process, the scientists listened to comments and suggestions from families of individuals with Down Syndrome, as well as from Down Syndrome research advocacy organizations. The NIH scientists then developed the research plan in collaboration with researchers in the national scientific community.

Among the research objectives identified as priorities over the next 10 years is the need for greater access to laboratory animals with the characteristics of Down syndrome.

The plan cites the need for increased research on the medical, cognitive, and behavioral conditions that occur in people with Down syndrome. These conditions include leukemia, heart disease, sleep apnea, seizure disorders, stomach disorders and mental health problems.

The working group also identified the need to study whether aging has a greater impact on mental processes in people with Down syndrome than in people who do not have Down syndrome. As adults, individuals with Down syndrome age prematurely and may experience dementia, memory loss or impaired judgment similar to that experienced by Alzheimer’s disease patients.

The plan summarizes current research efforts by the various NIH institutes studying Down syndrome.