History of Down Syndrome In 1959 Professor Jerome Lejeune, a geneticist in Paris, discovered that Down Syndrome occurred as a result

of a trisomy of chromosome 21. This means that instead of the usual 46 chromosomes in the cells of the body, there is an extra chromosome 21, making 47 chromosomes in all. Since then, other forms of the condition, which are much rarer, have been discovered, such as Translocation and Mosaicism. However, it was not until 1866 that the English doctor, John Langdon Down, first described the condition, which subsequently took his name. Approximately 94% of people with Down Syndrome have standard trisomy 21, 4% have a translocation and 2% mosaic Down Syndrome. In the vast majority of cases, Down Syndrome is not hereditary.
http://downsyndrome.com/history-of-down-syndrome/

A history of Down syndrome

John Langdon and Mary Crellin Down The history of Down syndrome is very rich and varied. John Langdon Down was a physician in 1856 who was the superintendent of an asylum located in England. He came to the realization that a good number of his patients had similar features, so similar that he wrote in an essay that when placed side by side it is difficult to believe that the specimens compared are not children of the same parents. Sadly, he called these children Mongoloids. Perhaps it was the time he was living in, but the name didnt seem to be offensive then as it is today. In the 1960s people from Mongolia and others were angry about the use of the name. Eventually the condition was re-named Downs syndrome in honor of Dr. Down being the first one to classify the condition. In America, it became simply Down syndrome. Today the accepted verbiage is a person with Down syndrome. This puts the focus on the person, not the disability. Dr. Down was a remarkable man who truly cared for his patients. In 1868 he and his wife Mary opened a private asylum called Normansfield. He dedicated his life to his work. His wife was also a large part of the history of Down syndrome. Mary Crellin Down was ahead of her time as she developed many programs for the residents such as employing teachers (education), making crafts (occupational therapy), sports programs (physical therapy), and a large area for children (early intervention). Live entertainment was provided on site as well. She hired staff that could sing, act, or dance as well as their regular duties. Entertainment was part of the job. Dr. Jerome Lejeune In 1958 Dr. Jerome Lejeune discovered that the cause of Down syndrome was an extra chromosome on the 21st pair. He called it Trisomy 21 (for 3 chromosomes on number 21 instead of 2) although that term is not as well-known. Dr. Lejeune was incredibly dedicated to Down syndrome research, and to the people he was trying to help. He insisted that there was a cure, and "it would take less effort to find a cure for Down syndrome than to send a man to the moon."

Dr. Lejeune said in perhaps his most famous quote, "With their slightly slanting eyes, their little nose in a round face and their unfinished features, trisomic children are more child-like than other children. All children have short hands and short fingers; theirs are shorter. Their entire anatomy is more rounded, without any asperities or stiffness. Their ligaments, their muscles, are so supple that it adds a tender languor to their way of being. And this sweetness extends to their character: they are communicative and affectionate, they have a special charm which is easier to cherish than to describe. This is not to say that Trisomy 21 is a desirable condition. It is an implacable disease which deprives the child of that most precious gift handed down to us through genetic heredity: the full power of rational thought. This combination of a tragic chromosomic error and a naturally endearing nature, immediately shows what medicine is all about: hatred of disease and love of the diseased." To the end of his life he studied Down syndrome and attempted to find a cure. He was so loved and revered for his goodness, dedication, and his attitude that all human life has value that the Catholic Church is now in the process of making him a Saint. To have such a man a part of the history of Down syndrome is wonderful. Current Research Today there are all kinds of research going on. Researchers have bred a mouse model that is really close to human Down syndrome. This is an exciting advance-it means scientists are getting closer to helping people with Down syndrome learn better and have more understanding. You can read the article here. It was previously thought that due to the wide range of symptoms and abilities of people with Down syndrome that it would be impossible to cure or even study properly. However, with the explosion of genetic studies and supercomputers there has been so much information on Down syndrome acquired that scientists are learning more then ever before. We are a long way from a cure, but it seems in the near future medications will be available to help. Parent Passion Unfortunately, in the history of Down syndrome and really all disabled persons, human beings have been discriminated against again and again.

Maternal Age

While trisomies can occur in people of any age, there is an association between a mothers age and the chance to have a baby with a trisomy. An association is simply scientific term for a link. An association is not a cause. This is an important point, because people are often under the mistaken belief that maternal age causes Down syndrome. This is not true. We do not know what causes trisomies to occur. We simply know that as women get older, the risk for having a pregnancy with a trisomy increases. While there is a link between maternal age and the occurrence of trisomies, most babies with Down syndrome are born to mothers under the age of 35. This is due to the fact that there are far more younger women having babies. In fact, 80% of babies born with Down syndrome are born to women younger than 35 and the average age of a mother of a baby with Down syndrome is 28 years. Overall, the likelihood of a woman under age 30 giving birth to a child with Down

syndrome is less than 1:1000. The risk increases as a woman gets older, with an incidence of about 1:112 at 40 years of age. However, this is still less than 1%.