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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A Medical Look at the Iceman Ötzi

By Medical Discovery News

June 16, 2012

Photo © South Tyrol Museum of Archaeology

Much of what scientists know about Neolithic man comes from Ötzi, whose body was preserved by ice in the Eastern Alps and discovered by German hikers in 1991. Since then, scientists have continued to study the intact ice mummy to learn about his health, his identity and how he died.

Though the iceman died 5,300 years ago, Ötzi’s body was so well preserved that scientists were recently able to extract uncontaminated DNA and sequence his genome. They discovered he suffered some of the same diseases people face today. At 46 years old, considered elderly for his time, Ötzi was predisposed for cardiovascular disease. He also had brown eyes, blood type O, lactose intolerance, and it turns out he had Lyme disease, making him the world’s first documented case.

Tissue from his hipbone revealed the presence of the bacterial pathogen that causes Lyme disease. Today, it’s among the most rapidly emerging infectious diseases in North America with nearly 30,000 confirmed cases in the U.S. in 2010, according to the Centers for Disease Control.  A bite from a deer tick or backlegged tick carrying Lyme disease can cause a bull’s eye rash around the bite site, along with fatigue, and aches and pains. The symptoms disappear but then can return weeks or years later with more severe problems such as paralysis, heart palpitations, and even memory loss and confusion.

Today, the infection can be treated with antibiotics and rarely will someone continue to have symptoms. But 5,300 years ago, antibiotics were unknown and Ötzi’s infection may have progressed and eventually disabled or killed him. But the iceman did not die from Lyme disease.

Ötzi may have been shot by an arrow and bled to death within minutes. He also had signs of defensive wounds to his hands and arms, including bruises and abrasions that make scientists think he had been involved in hand-to-hand combat. More recently, researchers were able to conclude he had a skull fracture that led to major bleeding in the back of the brain. This further suggests he was attacked or fell, which adds to mounting evidence Ötzi died during a fight.

The new DNA analysis also allows researchers to trace his ancestors, who came from the east and spread over Europe. Over time, following generations were genetically homogenized, so that his lineage can now only be traced to remote areas, such as Sardinia and Corsica.

At 5 feet, 2 inches tall, the small iceman will continue to give historians and scientists a better picture of how prehistoric people lived in this time between 3350 and 3100 B.C. To gain some perspective on how long ago this was, Ötzi had already been dead for 600 years when King Cheops of Egypt built his pyramids, and in England, Stonehenge would not be built for several hundred more years.

Ötzi is currently on display at the South Tyrol Museum of Archeology in South Tyrol, Italy. Visitors can see his body, kept frozen around 21 F, through a small window, and see a new 3-D life-sized model of how he would have appeared just before he died.

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