Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional copy of chromosome 21 (trisomy 21) or additional chromosomal 21 material. Named after John Langdon Down, the first physician to describe the syndrome systematically, Down syndrome is the most frequent chromosomal cause of mild to moderate intellectual disability. It occurs in all ethnic and economic groups. People with the syndrome also are at a greater risk for many other conditions, such as congenital heart disease, hearing loss, leukemia, and dementia and memory loss similar to Alzheimer disease.
The NICHD has conducted and supported Down syndrome research since its founding, including development of animal models to help study the syndrome, examination of specific genes and gene groups that may play a role in the syndrome, understanding how maternal age plays a role in the disorder, and development of new methods of diagnosis prenatally and postnatally. Additional research activities are described below.
The Institute's portfolio covers a broad range of research areas, including the causes, treatment, and prevention of Down syndrome.
Since 2011, the Institute has led the Down Syndrome Consortium, a public-private collaboration that provides a forum for promoting the Down Syndrome Directions: NIH Research Plan on Down Syndrome (2014) and fosters the exchange of information on biomedical and biobehavioral research on the syndrome. Consortium members, who represent public and private organizations, work to avoid duplication of research efforts and to inform the Down syndrome community of research advances. In addition to the NICHD, the Consortium includes the following organizations (in alphabetical order):
In 2013, the Consortium launched its Down syndrome registry, DS-Connect®, which facilitates contacts and information sharing among people with Down syndrome and their family members, researchers, and parent and support groups safely and confidentially. Creation of this registry was one of the principal recommendations of the Down Syndrome Research Plan.
A text alternative is available at: http://www.nichd.nih.gov/news/resources/links/Pages/transcript_DSconnect.aspx.
The Institute has also played a lead role in the trans-NIH Working Group on Down Syndrome, which developed the Research Plan, and aims to coordinate research activities across the NIH.
Some of the Institute's work related to Down syndrome is supported through its Intellectual and Developmental Disabilities Branch (IDDB). A key focus for the IDDB is exploring treatments for Down syndrome, including agents that improve intellectual development and cognitive performance.
The Repository for Mouse Models for Cytogenetic Disorders , a distribution center supported by the NICHD, provides mice for research on Down syndrome and other disorders. Because of similarities between certain mouse and human chromosomes, mouse models have allowed significant advances in understanding potential treatments for Down syndrome. For example, researchers currently are studying the use of the drug memantine, which supports cognition in mice and is approved for treating Alzheimer's dementia in humans, to improve the cognitive abilities of young adults with Down syndrome.
Using a mouse model for Down syndrome, NICHD researchers showed that by administering neuroprotective peptides (small protein sub units) to mice before birth, they perform better on memory and learning tasks as adults. The peptides, NAP and SAL, are sub units of two proteins that are important in brain development because they enhance the ability of brain cells to receive and transmit signals, and enable them to survive. The mice in the study had an extra copy of mouse chromosome 16, which has counterparts to 55% of the genes on human chromosome 21. Mice with the extra chromosomal material that were treated with NAP and SAL in the womb learned as well as mice that did not have the extra chromosome and significantly faster than mice with the extra chromosome that were treated with saline solution (placebo).
In an earlier study, NICHD researchers showed that when mice with the extra copy of chromosome 16 were treated with NAP and SAL in the womb, they achieved developmental milestones earlier than did untreated mice. In this earlier study, the researchers examined developmental milestones for sensory, motor skill, and muscle tone in the first three weeks of life. Together these study findings show that NAP and SAL treatments improve both physical development and learning ability in a mouse model for Down syndrome.
Other research focuses on the causes and pathophysiology of Down syndrome. The IDDB supports a broad range of activities in this area, including explorations of the signaling pathways, metabolic processes, and mitochondrial functions that affect the development of people with Down syndrome.
Some other recent scientific advances related to Down syndrome include:
Other organizational units also support or conduct research related to Down syndrome. For example:
Research in Down syndrome has the potential to improve the clinical care and quality of life for individuals with Down syndrome and their families. Areas of current and future research activity include the development of clinical trials for testing medical interventions and therapeutics in those with Down syndrome, the development and characterization of mouse models for understanding Down syndrome and testing the effectiveness of various medications, and the exploration of a variety of health systems' research questions.
Future research related to health care disparities and Down syndrome focuses on ways to increase access to medical care and to increase life expectancy, particularly among underrepresented minorities. Another issue that needs to be addressed is the dearth of adult health care providers with expertise to provide appropriate medical care for those with Down syndrome who are now adults. To identify ways to ease the transition between adolescent care for those with Down syndrome and adult lifestyles, the following questions should be considered:
To achieve its goals related to Down syndrome research, the NICHD supports and participates in a variety of other activities, including NIH-wide efforts. Some of these are listed below.
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