Down Syndrome in the Middle Ages

Jan. 30, 2015

By Medical Discovery News

Down syndrome is likely as old as humans themselves, but a recently discovered skeleton of a girl who died 1,500 years ago in France is the oldest confirmed case. The way she was buried seems to indicate that she was not scorned during her life and death in the Early Middle Ages.

Down syndrome, also called Trisomy 21, arises when a person is born with three rather than two copies of chromosome 21. It occurs in one out of 691 babies born in the U.S., making it the most common genetic disorder. Every person with Down syndrome is unique and has different levels of physical and intellectual abilities. The most common physical signs are upward slanting eyes, flattened facial features, ears that are small or unusually shaped, broad hands with short fingers, and a small head.

Other, more serious complications can include poor muscle tone, heart problems, problems swallowing, blockages in the intestines, cataracts or crossed eyes, hearing loss, increased susceptibility to infections, a less-active thyroid gland, and a higher risk of developing leukemia. People with Down syndrome develop dementia at a younger age than the general population. Their intelligence ranges, but with therapies, many Down syndrome children grow up to have jobs and live independently.

The chance of giving birth to a baby with Down Syndrome increases with the mother’s age, from 1 in 1,000 at age 30 to 1 in 100 at age 40. The American College of Obstetrics and Gynecology now recommends that all pregnant women be offered a prenatal screening test for Down syndrome, which is 99 percent accurate.

For centuries, people with Down syndrome have been part of art and literature. It wasn’t until the late 1800s that an English physician named John Langdon Down published the first accurate description, calling the condition “Mongolism.” The modern term Down syndrome became the accepted term in the early 1970s. The cause of Down syndrome, Trisomy 21, was discovered by French pediatrician and geneticist Jerome Lejeune, although Marthe Gautier, a retired pediatric cardiologist and scientist from Paris, now claims she did most of the experimental work that led to the discovery of Trisomy 21.

This newly discovered skeleton, which is the oldest case of Down syndrome found thus far, was unearthed near a church in a fifth- and sixth-century necropolis in Saône-et-Loire in eastern France. The five- to seven-year-old girl exhibited a short, broad skull, flattened skull base, and thin cranial bones, all features of Down syndrome. She was buried on her back with her head in a westerly direction, similar to the 94 others buried there. The archeologists believe that since she wasn’t treated any differently in death, it’s unlikely she was stigmatized when she was alive. But researchers must uncover further details about Down syndrome in the Middle Ages to know more about how she may have lived.

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