Down syndrome is the target of ambitious NIH research initiatives

Scant funding threatens the implementation of a broad agenda that covers medical, cognitive and behavioral conditions associated with the disorder.

By Susan J. Landers, AMNews staff. Feb. 25, 2008.

Washington -- Down syndrome is a familiar condition, affecting about one in every 800 children born in the United States. Although it is the most frequent genetic cause of mild to moderate mental retardation and it is associated with numerous other medical problems, much about it remains unknown.

The National Institutes of Health proposes to change that with an ambitious research agenda intended to advance understanding and speed treatments.

The agenda, released Jan. 22, sets out objectives for the next 10 years that cover disease progression, diagnosis and screening as well as treatment and management. It also includes medical, cognitive and behavioral conditions that occur more frequently in people with Down syndrome, such as leukemia, heart disease, sleep apnea, seizure, stomach disorders and mental health problems.

Most frequently, the syndrome results from an extra copy of chromosome 21 in all of an individual's cells. In a small number of cases, the extra chromosome 21 is present in some cells. Also in a few cases, individuals have the normal number of chromosomes but carry portions of material from chromosome 21 on other chromosomes.

The effects of this aberration are registered in many parts of the body. In addition to affecting physical appearance, the syndrome can cause hearing loss, heart malformations, hypertension, digestive problems and vision disorders.

The agenda was established by representatives from several NIH institutes and led by the National Institute of Child Health and Human Development. The group also identified the need to study whether aging has a greater impact on mental processes in people with the syndrome. Congress had asked last year that the NIH explore this issue.