Abstract 721
Historical Perspectives Poster Symposium, Saturday, 5/1
Down syndrome, the most common chromosomal anomaly associated with mental retardation, represented a landmark medical thought when it was characterized in 1866. Among his mentally defective patients, previously lumped together as "idiots" or "cretins," Langdon Down distinguished a group with upslanted eyes that he called "mongoloid." Langdon-Down's terminology reflected two scientific theories prevalent at the time, Blumenthal's hierarchical classification of human ethnic groups and Haeckel's evolutionary tenet that ontogeny recapitulates phylogeny. In 1932, Waardenburg reasoned that Down syndrome might be chromosomal in origin, a fact confirmed in 1950, by Lejeune and Jacobs. Down syndrome, thus, became the first clinical syndrome attributed to a chromosomal abnormality. As the focal point of prenatal screening efforts, Down syndrome has profoundly influenced perinatal medical practice. When amniocentesis became available for fetal chromosome determination, it was the risk for Downs balanced by the risk of pregnancy loss from the procedure that established 35 years as the threshold for advanced maternal age. Subsequent efforts in non-invasive prenatal screening have produced the "triple screen" using maternal serum markers to identify pregnancies at high risk for Down syndrome, as well as ultrasound features. Meanwhile treatments and interventions to ameliorate Down syndrome abound, from orthomolecular therapy of the 1940's to diet supplementation in the present. Down Syndrome continues to guide medical decision-making into the 21st century.
