|NIH Develops Down Syndrome Research Plan
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
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.
The National Institute of Child and Human Development (NICHD)
has supported Down syndrome research since the institute was established
in the 1960s. NICHD scientists have bred mice that help researchers
study the intellectual disability and dementia that occurs in Down
syndrome. The NICHD is currently studying specific genes and gene
groups that may play a role in developing Down syndrome. Researchers
are also studying the role that the age of the mother's egg plays
in developing the disorder.
An NICHD-sponsored study is examining whether individuals with
an additional complete copy of chromosome 21 differ as they age
from people with only a portion of the extra chromosome. Another
long-term study will examine the prevalence of dementia in adults
with Down syndrome and whether certain medications, like hormone
replacement therapy, slow the aging process in Down syndrome.
Other NICHD-supported projects include devising a weight loss
program for adults with developmental disabilities, and a computer
program to help children with Down syndrome learn.
The National Heart, Lung, and Blood Institute (NHLBI) is supporting
studies of the genes that contribute to heart malformations found
in Down syndrome patients. The NHLBI also is supporting investigations
of the causes and potential treatments for obstructive sleep apnea,
a disorder in which throat tissue blocks the airway during sleep,
temporarily shutting off air to the lungs. Obstructive sleep apnea
is common in Down syndrome children.
Children with Down syndrome are 10 to 15 times more likely than
other children to develop leukemia. The National Cancer Institute
is investigating various types of leukemia that affect children
with Down syndrome.
Other NIH institutes continue to investigate additional aspects
of Down syndrome. The National Institute on Aging is conducting
research on ways to treat Alzheimer's disease in people with Down
The National Institute of Allergy and Infectious Diseases is studying
the significance of two genes recently found in a region of chromosome
21. These genes are involved in the development of the immune response
The National Institute of Mental Health is investigating rates
and possible treatments for mental disorders found with Down syndrome.
These include autism, obsessive-compulsive disorder, depression,
The National Institute of Neurological Disorders and Stroke (NINDS)
is investigating how the brain is affected by Down syndrome. The
intellectual disability seen in people with Down syndrome is caused
when neurons die or do not function properly. One NINDS study is
investigating the potential role of a specific gene called APP,
for amyloid precursor protein. It is thought that disruption of
the APP gene may kill neurons by interfering with a growth factor
needed for neurons to survive. APP is believed to be related to
Alzheimer's disease and may play a role in Down syndrome.
The research plan on Down syndrome "is intended to provide
the NIH, and its member Institutes and Centers, with guidelines
for prioritizing and coordinating future research related to Down
syndrome," wrote the members of the NIH Down syndrome working
group in the report.
The working group is moving forward to implement plan objectives.
The plan's short- term objectives are expected to be accomplished
within the next three years.
The report is available on the NICHD Web site at http://www.nichd.nih.gov/publications/pubs/upload/NIH_Downsyndrome_plan.pdf
The NICHD sponsors research on development, before and after birth;
maternal, child, and family health; reproductive biology and population
issues; and medical rehabilitation. For more information, visit
the Institute's Web site at http://www.nichd.nih.gov/.
The National Institutes of Health (NIH) — The Nation's
Medical Research Agency — includes 27 Institutes and
Centers and is a component of the U.S. Department of Health and
Human Services. It is the primary federal agency for conducting
and supporting basic, clinical and translational medical research,
and it investigates the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and
its programs, visit www.nih.gov.