October is Down Syndrome Awareness Month, an opportunity to spread awareness and enhance understanding of Down syndrome, a congenital disorder in people who have an extra 21st chromosome.
In recent decades, life expectancy for people with Down syndrome has more than doubled, from 25 years in 1983 to 60 years today, leading to new priorities for medical care, advocacy, and research.
Recently, Melissa Parisi, M.D., Ph.D., and Sujata Bardhan, Ph.D., of NICHD’s Intellectual and Developmental Disabilities Branch (IDDB), discussed scientific progress on Down syndrome and the importance of collaboration to help drive science and improve the health of those affected by Down syndrome. Read excerpts from our interview below.
Thanks to medical advances and other progress, people with Down syndrome are living longer than ever. What do families, communities, and people with Down syndrome need to consider now?
As a result of great advances in medical science, families and individuals with Down syndrome need to consider many aspects of normal aging that were not a priority before. In addition, studies show that Alzheimer’s disease is more common in adults with Down syndrome. Approximately 75 percent of those with Down syndrome ages 65 and older have Alzheimer’s dementia, a rate nearly six times that of the general population [PMID: 9017086].
The most important recommendation is that an adult with Down syndrome have a regular health care provider. There are many providers who specialize in care for people with Down syndrome, and many of these providers see adults. Clinics that provide care for people with Down syndrome (see, for example, the Global Down Syndrome Foundation’s Medical Care Center List 
) can be a good place to start. DS-Connect®: The Down Syndrome Registry, launched by NICHD in 2013, also has lists of health care providers that can be searched by specialty and location.
One partner in the NIH Down Syndrome Consortium, the National Down Syndrome Congress , has developed a useful guide called Aging and Down Syndrome . This guide is available in English and Spanish. It highlights some of the important issues to consider for adults with Down syndrome, such as housing, employment, community participation, retirement, and medical and care directives.
How does DS-Connect® help families and individuals affected by Down syndrome?
DS-Connect® is an online registry in English and Spanish that facilitates safe and confidential information-sharing among people with Down syndrome, family members, researchers, and support groups. Participants can do the following:
- Take confidential health-related surveys aimed at better understanding the health of people with Down syndrome across their lifespans
- Document growth measurements
- Print out their medical history
- Get access to health care guidelines and resources about Down syndrome
- Search for a health care provider
- Find out about research that affects people with Down syndrome
- Express interest in participating in research studies on Down syndrome, including studies of new medications and other treatments
What’s the most important thing you would like the Down syndrome community to know about this resource?
We’d like to emphasize how important it is for people of all ages to register on DS-Connect®. Right now, we don’t have much health data on older individuals with Down syndrome, and that’s a problem. People with Down syndrome are living longer, which is great, but we do not know what issues are related to typical aging in this population.
Physicians and researchers benefit from having more information about the health issues and needs of people with Down syndrome to make recommendations about their health care. Having a centralized portal to consolidate all of the health information across the lifespan will be a huge asset for the community.
We have more than 3,200 people with Down syndrome who have joined the registry, and we want to see that number grow.
How does research on Down syndrome help advance other areas of research?
We now know that by age 40, the brains of some people with Down syndrome have significant levels of plaques (clumps of a protein called beta-amyloid) and tangles of protein strands, both of which are considered hallmarks of Alzheimer’s disease . Not everyone with Down syndrome develops dementia, though. Research efforts to understand why some people with Down syndrome appear to be protected from Alzheimer’s disease will be instrumental in understanding dementia. With this knowledge, scientists may be able to develop ways to treat and manage this disease in people with Down syndrome as well as in the general population.
Research also has revealed some advantages to having Down syndrome. In one survey of 684 women with Down syndrome who had mammograms performed, only 2 developed breast cancer. This translates to a rate of about 1 percent of women with Down syndrome developing breast cancer, compared to about a 12 percent risk for breast cancer among the general female population over their lifetime. It seems that there is something protective about having three copies of chromosome 21 with regard to breast cancer and other solid tumors. Perhaps people with Down syndrome can help us understand how tumors form and develop more realistic screening recommendations for them.
What resources does NICHD make available to researchers focusing on Down syndrome?
NICHD has supported the Cytogenetics and Down Syndrome Models Resource , a distribution center that provides mice for research on Down syndrome and other disorders. Because of similarities between mouse and human chromosomes, mouse models have enabled significant advances in evaluating potential treatments for Down syndrome. For example, researchers currently are studying the use of certain medications that improve learning and functional abilities in mice and may be beneficial in improving the cognitive abilities of young adults with Down syndrome.
In addition, the University of Maryland Brain and Tissue Bank (a brain and tissue repository of the NIH NeuroBioBank) is a repository that systematically collects, stores, and distributes human brain and other tissues for research dedicated to the improved understanding, care, and treatment of people with intellectual disabilities, including Down syndrome. All of the six NIH NeuroBioBank-supported brain banks work together using shared protocols and informatics platforms to collect and distribute samples from a variety of neurological and mental health conditions.
Also, since 2011, NICHD has led the Down Syndrome Consortium, a public-private partnership that fosters the exchange of information on biomedical and biobehavioral research on Down syndrome. It also provides a forum for promoting Down Syndrome Directions: The National Institutes of Health Research Plan on Down Syndrome. Consortium members, who represent public and private organizations, work to avoid duplication of research efforts and to inform the Down syndrome community about research advances.
What do you consider the biggest challenges to putting research findings into practice?
We need to engage in more outreach and collaboration with the Down syndrome community. The Down Syndrome Consortium is involved in dissemination of information to the community, among other collaborative activities, but we need more exchange of information on whether research on Down syndrome is making a difference for families.
We also need to expand our outreach efforts to include those who are members of racial and ethnic minorities. We really need to know the issues that affect people with Down syndrome so we can develop treatments and interventions that will have a positive impact across the lifespan. As more people with Down syndrome enroll in DS-Connect®, we are developing the knowledge base to do just that!
More Information from NICHD
A-Z Topics
Previous Spotlights on Down Syndrome
NICHD News Releases on Down syndrome research
Originally Posted: October 27, 2015
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