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The purpose of this research timeline is to synthesize the natural history of Down Syndrome (DS) to discover absence of knowledge, discuss the bioethics in prenatal screening and develop a public health message. Our method of research was literature-based. DS is one of the most common aneuploidy disorders in the United States. There are three genetic variations of DS, Trisomy 21, a third copy of chromosome 21, accounts for 95% of cases. DS causes intellectual disability, developmental delays, facial dysmorphia, and low muscle tone. DS also leads to an increased risk for congenital heart defects and Alzheimer’s disease later in life. In 1866, John Langdon Down was the first to link the physical characteristics of individuals with DS. Although sentiment towards DS was not positive initially, we now have a greater understanding of the disorder and have more humane treatments. In earlier years, doctors were advocating to parents to cease caring for their child with DS, including institutionalizing them. Throughout the years, leaders began advocating for DS, such as John F. Kennedy; in 1962 he established the National Institute of Child Health and Human Development (NICHD) to support and research mental disabilities. The improved medical care and social inclusion is making positive impacts on the physical and intellectual development of individuals with DS. The life expectancy for a person with DS increased after eradicating inhumane practices, which is why it’s important to develop a public health message promoting social advocacy and public health awareness.

Publication Date

Spring 2021




Down syndrome; Public health; Genetic variation; Aneuploidy


Medical Genetics

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576 KB


Faculty Mentor: Kathryn Rafferty, Ph.D.

A Timeline of Down Syndrome