Epidemiology Research Today is a free monthly online journal that collates and summarizes the latest research about Epidemiology, including details on twin studies, statistics, environmental and genetic factors.

Epidemiology of Down syndrome.

Sherman SL, Allen EG, Bean LH, Freeman SB

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in approximately 1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of specific DS-associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances. (c) 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007;13:221-227.

Published 2 October 2007 in Ment Retard Dev Disabil Res Rev, 13(3): 221-227.
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