Down syndrome historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]

Overview

Down syndrome (Trisomey 21 or Dow's syndrome) is a genetic disorder is characterized by the presence of all or part of an extra 21st chromosome. John Langdon Down, a British doctor described it first in 1866. Jérôme Lejeune in 1959 ascribed the features associated with Down's syndrome to the presence of an extra 21st chromosome (trisomy 21). Based on anthropometric measurements and photographic appearance, John Landdon Down delineated a well-defined group of mentally disabled individuals, whose members all resembled the little girl very well. He called them, in concordance with the ethnical insights of the then famous dr. Blumenbach, mongoloid “idiots”. Today they are known by his own, more ethically correct name: Down's syndrome. Until the middle of the 20th century, the cause of Down syndrome was largely. However, was known that it affected humans of all races, was associated with older maternal age and was rare. Standard medical texts assumed it was caused by a combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth. In 1886 Shuttleworth referred to Langdon Down's ethnic classification and he included the "Mongol type" in his publication. Beginning in 1888, John Langdon Down's work became widely accepted and was consistently being referred to by scientists and physicians, beginning with Goodheart in 1888. By the 20th century, Mongolism had become a widely used descriptive term. This was the title used by Bertram Hill in 1908 and by Penrose as late as 1961. With the discovery of karyotype techniques in the 1950s, it became possible to identify abnormalities of chromosomal number or shape. In 1959, Professor Jérôme Lejeune discovered that Down syndrome resulted from an extra chromosome. The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21.

Historical Perspective

• An English physician John Langdon Down first characterized Down syndrome as a distinct form of mental disability in 1862, and in a more widely published report in 1866 entitled "Observations on an ethnic classification of idiots".
• When John Down was 18 years old, he met a girl that appeared so odd and peculiar, that he felt sorry for her and, consciously or unconsciously, would spend the rest of his life deciphering and studying about what led to such a behavior and appearance in human beings. He decided to study Medicine, became the director of the largest “Asylum for Idiots” in England and became the pioneer of medical literature about the phenomena that he found so intriguing.
• Based on anthropometric measurements and photographic appearance, he delineated a well-defined group of mentally disabled individuals, whose members all resembled the little girl very well. He called them, in concordance with the ethnical insights of the then famous dr. Blumenbach, mongoloid “idiots”. Today they are known by his own, more ethically correct name: Down's syndrome.
• John Langdon Down was a pioneer of the use of photography in hospitals. Mongolian idiocy became a widely used term but in 1961 a group of genetic experts wrote to the Lancet suggesting four alternative names. Down syndrome was selected and was later adopted by the World Health Organization (WHO) in 1965.
• The majority of the physicians of his era thought the inhabitants of a lunatic asylum were incapable of learning and acquiring skills ascribed to normal human beings. John wanted to disprove this notion. He had noticed that his mongols were certainly able to be raised properly. He discovered that his patients were able to imitate normal human behavior. John and his wife Mary, who worked alongside him on the patients taught them how to ride a horse, clean the stables, grow vegetables and fruit, collect eggs and milk the cows. In the workshops, various skills were taught. Weaving and making puppets for the puppet play were the most popular activities. Here Down learned that if he divided patients with similar talents into groups, their ability to learn increased. Down also found that shopping is very useful in social training programs
• Until the middle of the 20th century, the cause of Down syndrome was largely. However, was known that it affected humans of all races, was associated with older maternal age and was rare. Standard medical texts assumed it was caused by a combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth.
• John Langdon Down's son, Reginald Down was further able to carry his father's work and made a further important observation in 1909 and contributed to discussion of a paper by Shuttleworth. He passed around hand prints of a number of patients with Down syndrome showing that "the bones of the palm differed from the normal in their extreme irregularity, and the tendency of the principal fold-lines to be two in number only, instead of three as was most commonly the case." Reginald may have identified this peculiarity himself or his father may have shown it to him. A sketch of the palmar crease pattern dated 1908 was found in the historical literature and family archives.
• In 1876, Mitchell and Fraser published an account of what they described as Kalmuc idiocy, claiming at the time that such a condition had never been reported in history. What they described was indeed Down's syndrome and they had failed to note his earlier publication in the same journal in which their paper later appeared. The first reference to Langdon Down's ethnic classification was probably in 1877 (Ireland). In 1879, Tanner and Meadows also acknowledged Down's observations.
• In 1886 Shuttleworth referred to Langdon Down's ethnic classification and he included the "Mongol type" in his publication.
• Beginning in 1888, John Langdon Down's work became widely accepted and was consistently being referred to by scientists and physicians, beginning with Goodheart in 1888.
• In 1891, Brush discussed John Down's work at length in the 'Cyclopedia of diseases of children'.
• By the 20th century, Mongolism had become a widely used descriptive term. This was the title used by Bertram Hill in 1908 and by Penrose as late as 1961.
• With the discovery of karyotype techniques in the 1950s, it became possible to identify abnormalities of chromosomal number or shape. In 1959, Professor Jérôme Lejeune discovered that Down syndrome resulted from an extra chromosome. The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21.
• In his last years, Professor Lejeune did research into the question of metabolic abnormalities in persons with Down Syndrome. After his death in 1994, his research has been continued by Dr. Paddy Jim Baggot. Some success at identifying abnormalities and finding treatments has been experienced. In later research, it has been shown that measures to treat biochemical deficiencies should begin at about the 22nd week of pregnancy. Some parents are currently giving supplements to their children with Down Syndrome, which has resulted in some improvement of their capabilities.