March is Trisomy Awareness Month: Time to Get "DS Connected"

New Down syndrome registry has 1,422 users—and growing

Young children, one with Down syndrome; text on top of image - share her health information - help others; Join DS-Connect<sup>®</sup>: The Down Syndrome Registry today. Get DS-Connected:

During Trisomy Awareness Month in March, the NICHD joins other organizations to raise awareness about trisomy conditions and the challenges they can pose to individuals and families.

"Trisomy" occurs when a person has an extra chromosome in most or all of his or her cells—47 chromosomes instead of the usual 46. An extra chromosome can cause health problems ranging from mild intellectual and developmental disabilities (IDDs) to severe physical and cognitive problems.

The best known trisomy condition is Down syndrome, or Trisomy 21, which occurs when an individual has an extra copy of chromosome 21. Down syndrome occurs in about 1 in 700 live births in the United States each year, according to the Centers for Disease Control and Prevention. People with Down syndrome often have mild-to-moderate IDDs, heart abnormalities, higher risks of hearing and vision loss, and a number of other health conditions.

The NIH has made significant progress in advancing Down syndrome research. In September 2013, the NIH launched DS-Connect®: The Down Syndrome Registry as a powerful resource to facilitate information sharing among people with Down syndrome and their family members, researchers, and parent and support groups.

Individuals with Down syndrome—or family members who volunteer on their behalf—can create a profile and then complete the Registry's confidential health-related survey online. Depending on their answers to specific questions, users may be asked to provide more details on specific conditions, such as congenital heart defects.

Registered users can see combined information from all of the completed surveys (without any identifying characteristics of the participants, so the information remains confidential). This is called "de-identified aggregate data," and it provides overview information about all of the Registry participants with Down syndrome.

The Registry is also preparing to launch its "Professional Portal" in the next few months. This resource will provide registered researchers, clinicians, and other health care providers with de-identified data and information to help them design clinical studies to learn more about Down syndrome.

DS-Connect® will also help support recruitment for clinical studies on Down syndrome. Researchers can alert the Registry coordinator about upcoming studies, and the coordinator will pass that information along to families who may be eligible, allowing them to choose whether they want to contact the researcher about participating. There are also future plans to link DS-Connect® to a biobank that will store donated samples, such as cells and tissues.

These efforts will advance research by making information available to more researchers and by giving families a chance to participate in research on Down syndrome.

In addition to DS-Connect®, the NICHD is involved in a variety of activities related to Down syndrome and other trisomy conditions. Some of these are listed below:

Through DS-Connect® and other NICHD activities, the Institute is working to better understand trisomy conditions and help individuals live longer, healthier lives.

More Information

For more information about the Down syndrome registry and NICHD research, select a link below:

Originally Posted: March 6, 2014


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