Brian Skotko, MD, MPP
Estimation of the number of people with Down syndrome in the United States

Genet Med. 2016 Sep 8. doi: 10.1038/gim.2016.127. [Epub ahead of print]

An accurate accounting of persons with Down syndrome (DS) has remained elusive because no population-based registries exist in the United States. The purpose of this study was to estimate this population size by age, race, and ethnicity. Until 2008, DS was a rare disease. In more recent decades, the population growth of people with DS has leveled off for non-Hispanic whites as a consequence of elective terminations. Changes in childhood survival have impacted the age distribution of people with DS, with more people in their fourth, fifth, and sixth decades of life.