Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Down syndrome

*


* Not a rare disease
Información en español
Other Names for this Disease
  • Down's syndrome
  • Trisomy 21
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Your Question

Can Down syndrome be treated? Where can I learn about ongoing research studies?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Down syndrome be treated?

Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help individuals with Down syndrome develop to their full potential.[1] The overall objective of treatment is to boost cognition by improving learning, memory, and speech. Scientific advances have made it possible to understand how specific genes are linked to specific abnormalities in the structure and function of the brain. Although there are hundreds of genes on chromosome 21, researchers believe it likely that only a handful significantly impact cognition. Many researchers now believe that it will be possible to isolate the effects of these specific genes and determine how their expression in the brain can cause problems with cognition. As researchers gain a better understanding of these mechanisms, they can begin the process of discovering treatments that enhance brain function.[2]   

Visit the GARD Services tab above to find resources that provide a list of specialty centers located across the U.S and internationally for individuals with Down syndrome.
Last updated: 6/8/2012

Is there a cure for Down syndrome?

There is no cure for Down syndrome.[2][3] Once a baby is born with Down syndrome, the extra twenty-first chromosome will always be present. There is no way to remove or deactivate it. However, researchers have identified several genes that cause the characteristics of Down syndrome. Many believe that it will be possible to improve, correct or even prevent many of the problems associated with Down syndrome in the future.[1][2]
Last updated: 3/9/2012

Where can I access information about ongoing research studies for Down syndrome?

Researchers are making great strides in identifying the genes on chromosome 21 that cause the characteristics of Down syndrome. Many believe that this research is the key to improving, correcting, or even preventing many of the problems associated with Down syndrome.[1]

Some of the most promising Down syndrome research involves gaining a better understanding of the genetic, biological, and neurological (involving the nervous system) processes and how they relate to one another to cause intellectual impairment. Researchers are most interested in the part of the brain called the hippocampus. The hippocampus is essential for learning and memory. They think that an abnormality in the hippocampus causes the delay of intellectual development in individuals with Down syndrome.[4]

Researchers believe that the increased activity (expression) of one or more genes on chromosome 21 causes the structure and function of the hippocampus to be abnormal. Individuals with Down syndrome have some overactive genes because they have an extra copy of chromosome 21. They are currently trying to identify the specific genes that cause these abnormalities and how increased activity of these genes affects intellectual ability. The next step will be to identify treatments that can turn down or turn off these genes in the brain with the hope of restoring the brain to normal function.[4]

The Down Syndrome Research and Treatment Foundation has a FAQ addressing current research into Down syndrome.

Current research studies involving Down syndrome can be accessed through the following resources:

ClinicalTrials.gov lists trials that are studying or have studied Down syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

The National Down Syndrome Society provides information about research related to Down syndrome.

Last updated: 6/18/2012

References