Down Syndrome Registry Expands to Spanish Population

Down syndrome (DS) is one of the most common genetic causes of developmental and intellectual disabilities in the United States. According to the Centers for Disease Control and Prevention, approximately 6,000 babies are born in the U.S. each year with Down syndrome, or about 1 out of every 691 live births. 

Little is known about the global health impact of DS, such as heart defects, gastrointestinal malformations and other medical and behavioral issues. Further research is needed to develop the next generation of novel therapies and compounds aimed at improving cognition, reducing dementia and mitigating other manifestations of DS.

To help address this need, the National Institute of Child Health and Human Development created a web-based, voluntary registry called DS-Connect (https://dsconnect.nih.gov) in 2013; it collects demographic and health information about individuals with DS. It will provide information to doctors and scientists about how DS affects those suffering from the disease and foster new educational, behavioral and pharmaceutical treatments. 

Drs. Melissa Parisi and Sujata Bardhan of NICHD’s Intellectual and Developmental Disabilities Branch were instrumental in developing DS-Connect. They explain that while people with DS are living longer, researchers and health care providers do not know what issues are related to typical aging in this population. DS-Connect provides a portal to consolidate health information across the lifespan. 

“There are currently more than 3,200 people with Down syndrome who have joined the registry and we want to see that number grow,” said Parisi.

The researchers recognized the need to expand outreach efforts to include Spanish-speaking people, so last June, DS-Connect en Español was launched.  

Parisi and Bardhan also work with the Down Syndrome Consortium to obtain feedback and help promote both the English and Spanish DS registries. Through research, they say, scientists can gain a better understanding of Down syndrome and develop early interventions to improve the quality of life for children and adults with this disorder.