Perspective

Perspective Editorial What’s in a name? Down syndrome

KRISTEN ANN EHRENBERGER, MD, PHD

October is Down Syndrome Awareness Month, when we celebrate the abilities of the more than 400,000 people living with the condition in the United States. The most common human chromosomal anomaly has had many names over the century and a half since its recognition, some of which were once accepted medical terms and are now offensive: Down’s Syndrome, mongolism, Down Syndrome, Up Syndrome, Trisomy 21. Let’s take a careful historical exploration of them.

Son of an apothecary, John Langdon Down (1828-1896) studied medicine, surgery, pharmacy, and physics. While serving as superintendent of the Earlswood Asylum in Surrey, just south of London, Dr. Down wrote a paper entitled “Observations on an Ethnic Classification of Idiots [sic]” (1866). He proposed that most of the “mental lesions” in children brought to his attention were not due to accidents that happened after birth—such as head trauma or a nurse giving an overdose of calomel powders (e.g. opium to make the baby quiet)—but rather to a congenital insult that occurred before birth, such as parents who intermarried or suffered from tuberculosis. Dr. Down reported that more than 10% of his patients shared physical characteristics such as epicanthal folds, midface hypoplasia, and even skin color that he described as “mongoloid,” using Johann Friedrich Blumenbach’s terminology.

Blumenbach (1752-1840) tried to reconcile Judeo-Christian teaching about “Adam and Eve” with observed phenotypic variation through comparative anatomy. From his study of skulls, the German naturalist separated all of humanity into five groups, one for each continent: what he called Ethiopians in Africa, Malayans in South Asia and the Pacific, Americans in the Americas, Caucasians in Europe, and Mongolians in Central and East Asia. Blumenbach was a “monogenist” who believed that the two Biblical progenitors of the single human race were Europeans whose descendants had “degenerated” into different racial forms due to unfavorable environmental factors such as climate, diet, and lifestyle.

In the twenty-first century it is hard to believe that this was a progressive position compared to the rival “polygenist” stance that there were multiple human races, each from a different genetic origin and with immutable traits that no amount of reform or better breeding (“eugenics”) could improve. A monogenist and a reformer, Dr. Down interpreted his patients’ appearance as evidence that a white Englishwoman could give birth to an “Asian” baby, and therefore that all humans were ultimately related. He was also an early feminist and left his position at Earlswood because he wanted his wife to draw her own salary for contributing to care at the asylum.

The Downs went on to found their own home for the children of wealthy families with intellectual and developmental disabilities, called Normansfield. While there, he published the first description of what we know as Prader-Willi Syndrome. After his death, one of his grandsons was born with the condition that bears his name. Normansfield is now headquarters for the British Down’s Syndrome Association and a museum.

Genetic discoveries in the 1950s demonstrated that it was not “degeneracy” but the presence of extra DNA material from chromosome 21 that explains the syndrome. In the 1960s, conscientious scientists and the Mongolian People’s Republic lobbied for less stigmatizing language, and in 1965, the World Health Organization approved “Down’s Syndrome.” The British continue to use the possessive form, but in 1975, the National Institutes of Health

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Perspective Editorial

From page 285 –––––––––––––––––––standardized American nomenclature to drop the “’s” if the name-giver did not have the eponymous disease (i.e. “Lou Gehrig’s Disease”). Unfortunately, the term “mongolism” remained common parlance into the 1980s. It was brought (back) into public consciousness with Sapphire’s novel Push (1996), in which the main character’s first child is a little girl named “Mongol,” Quishay Powell played her in the movie version entitled Precious (2009).

More balanced media representations of individuals with Trisomy 21 include the television show Life Goes On (1989-1993), whose sensitive portrayal of a character with HIV/AIDS sometimes overshadows its normalization of Chris Burke’s character, Corky. Lauren Potter played sassy cheerleader Becky on the high school musical dramedy Glee (2009-2015). Unscripted reality show Born This Way (2015-2018) followed seven young adults with Trisomy 21 developing relationships, working jobs, and pursuing hobbies. Finally, a low-budget biopic of director Duane Graves’s next-door neighbor and childhood friend Rene Morena used the accident of Dr. Down’s name to give Trisomy 21 a positive spin: Up Syndrome (2001). So that’s what’s up with the history of the name Down(‘s).

Dr. Ehrenberger, MD, PhD (History), is assistant professor of Internal Medicine and director of the Progressive Evaluation & Referral Center (PERC) at UPMC. She is secretary of the C.F. Reynolds Medical History Society and can be reached at bulletin@acms.org.

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