Down syndrome historical perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Down syndrome or trisomy 21 (usually Down's Syndrome in British English[1]) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who described it in 1866. The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959.
Historical Perspective
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".[2] Due to his perception that children with Down syndrome shared physical facial similarities (epicanthal folds) with those of Blumenbach's Mongolian race, Down used terms such as mongolism and Mongolian idiocy.[3] Down wrote that mongolism represented "retrogression," the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents.
By the 20th century, "Mongolian idiocy" had become the most recognizable form of mental disability. Most individuals with Down syndrome were institutionalized, few of the associated medical problems were treated, and most died in infancy or early adult life. With the rise of the eugenics movement, 33 of the (then) 48 U.S. states and several countries began programs of involuntary sterilization of individuals with Down syndrome and comparable degrees of disability. The ultimate expression of this type of public policy was the German euthanasia program "Action T-4", begun in 1940. Court challenges and public revulsion led to discontinuation or repeal of such programs during the decades after World War II.
Until the middle of the 20th century, the cause of Down syndrome remained unknown. However, the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed. 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.[4]
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.[5] 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. [6]
In 1961, nineteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had "misleading connotations," had become "an embarrassing term," and should be changed.[7] The Lancet supported Down's Syndrome. The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate.[8] However, almost 40 years later, the term ‘mongolism’ still appears in leading medical texts such as Review of Medical Physiology, 22nd Edition, 2005, by Professor William Ganong and General and Systematic Pathology, 4th Edition, 2004, edited by Professor Sir James Underwood.
In 1975, the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations. They recommended eliminating the possessive form: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder."[9] Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the USA, Canada and other countries; Down's syndrome is still used in the United Kingdom and other areas.[10]
References
- ↑ "Trisomy 21: The Story of Down Syndrome paper".
- ↑ Down, J.L.H. (1866). "Observations on an ethnic classification of idiots". Clinical Lecture Reports, London Hospital. 3: 259–262. Retrieved 2006-07-14. For a history of the disorder, see OC Ward (1998). John Langdon Down, 1828–1896. Royal Society of Medicine Press. ISBN 1-85315-374-5. or Conor, Ward. "John Langdon Down and Down's syndrome (1828–1896)". Retrieved 2006-06-02.
- ↑ "John Langdon Down: The Man and the Message". Down Syndrome Research and Practice. 6 (1): 19–24. 1999. Unknown parameter
|Author=ignored (|author=suggested) (help);|access-date=requires|url=(help) - ↑ Warkany, J. (1971). Congenital Malformations. Chicago: Year Book Medical Publishers, Inc. pp. 313–314. ISBN 0-8151-9098-0.
- ↑ "Jérôme Lejeune Foundation". Retrieved 2006-06-02.
- ↑ "The Michael Fund".
- ↑ Gordon, Allen (1961). "Mongolism (Correspondence)". The Lancet. 1 (7180): 775. Unknown parameter
|coauthors=ignored (help) - ↑ Howard-Jones, Norman (1979). "On the diagnostic term "Down's disease"". Medical History. 23 (1): 102–104. PMID 153994.
- ↑ A planning meeting was held on 20 March 1974, resulting in a letter to The Lancet."Classification and nomenclature of malformation (Discussion)". The Lancet. 303 (7861): 798. 1974. The conference was held 10 February-11 February 1975, and reported to The Lancet shortly afterward."Classification and nomenclature of morphological defects (Discussion)". The Lancet. 305 (7905): 513. 1975.
- ↑ Leshin, Len (2003). "What's in a name". Retrieved 2006-05-12.