Current Down Syndrome Research

There are a number of research projects currently exploring aspects of Down syndrome. In January 2008, the National Institutes of Health (NIH) announced a research plan to study ways to treat the medical complications associated with Down syndrome and the causes behind them.

Researchers are investigating the following:

  • Development of Down syndrome, particularly how genetic factors and the age of the mother's egg are involved
  • How computer programs may help children with Down syndrome learn
  • Weight loss programs for adults who have Down syndrome
  • Differences in the aging process for people with Down syndrome (e.g., whether people with Trisomy 21 age differently than people with Translocation Down syndrome, whether medications [e.g., hormone replacement therapy] may be beneficial to treat dementia)
  • Genes found in one region of chromosome 21 and how they affect the immune system
  • Genes that cause heart defects in people with Down syndrome
  • Connections between Down syndrome and other conditions (e.g., leukemia, Alzheimer's disease, autism, depression, psychosis, obsessive-compulsive disorder [OCD], mental retardation, sleep apnea, seizure disorders, and stomach disorders)

Additional research is focused on the differences in the ways that people with Down syndrome learn. The goals of one study are to detect differences in cognitive abilities among people with Down syndrome, evaluate their strengths and weaknesses, and determine why some have more difficulty learning than others. Another study is focused specifically on language learning challenges in children between the ages of 12 and 24 months who have Down syndrome.

The Down Syndrome Research Center is exploring the connection between cognition and the hippocampus area of the brain and nerve synapses (the cell structures that transfer information between brain cells) in people who have Down syndrome. Some researchers believe that abnormalities in synapses may be partially responsible for cognitive issues associated with Down syndrome and that extra genes from chromosome 21 may cause these abnormalities. If this is the case, researchers hope to find a way to "turn down or turn off the activity of the extra gene(s)."

Other studies are examining heart defects, vision problems, sleep disturbances, and iron deficiency in children with Down syndrome. A Down syndrome registry program allowing physicians to access medical information for patients with similar medical situations also is being created.

Publication Review By: Stanley J. Swierzewski, III, M.D.

Published: 27 Aug 2008

Last Modified: 14 Sep 2015