Misplaced Pages

This is an old revision of this page, as edited by 69.151.18.130 (talk) at 18:25, 6 December 2006 (fhfghgfjgjghjgh). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.

{{[[Image:Down_Syndrome_Karyotype.png|right|thumb|Karyotype for trisomy Down syndrome. XX arrangement for females and 46 chromosomes with an XY arrangement for males. arm of chromosome 21 is attached to another chromosome, often chromosome 14 (45,XX,t(14;21q)) or itself (called an isochromosome, 45,XX,t(21q;21q)). Normal disjunction Syndrome Society| accessdate=2006-06-28}}</ref> syndrome can pose a challenge to parents and families. Although living with family is preferable to institutionalization for most people, people with Down syndrome often encounter patronising attitudes and discrimination in the wider community. In the past decade, many couples with Down syndrome have married and started families, overcoming stereotypes associated with this condition.

The first World Down Syndrome Day was held on 21 March 2006. The day and month were chosen to correspond with 21 and trisomy respectively. It was proclaimed by Down Syndrome International.

History

English physician John Langdon Down first characterized Down syndrome as a distinct form of mental retardation in 1862, and in a more widely published report in 1866 entitled "Observations on an ethnic classification of idiots". 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. Idiocy was a medical term used at that time to refer to a severe degree of intellectual impairment. Down wrote that mongolism represented "retrogression," the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents.

John Langdon Down was ambivalent about Darwinism and uncomfortable that it was being used by some (though not by Darwin himself) to justify racial discrimination. Langdon Down was himself of the opinion that the human race was universal and he stated that "these examples of the results of degeneracy among mankind appear to me to furnish some arguments in favour of the unity of the human species."

Professor O'Connor Ward states in his book 'Dr John Langdon Down And Normansfield' (updated and reprinted 2006) that: "After his initial identification of the specific picture of the Mongolian Idiot, Langdon Down moved away from the concept of facial and other characteristics of other races representing evidence of degenerative genetic inheritance, leading to physical characteristics appropriate to another racial stock. Speaking in a discussion on a paper by B.W. Richardson in 1867 on 'Physical Disease from Mental Strain', Langdon Down said that he had abandoned his belief in phrenology after 10 years of study. He had turned his back on the view that a person's character and intelligence could be deduced from the outer appearance and shape of the skull. They could estimate quantity of the brain, but owing to not being able to ascertain the quality on the failure of phrenology, which had received due attention from those who paid great attention to psychiatric subjects and had been tried and found wanting."

When Langdon Down was invited to write for the section on idiocy in Quain's Dictionary of Medicine in 1882, he made no mention of racial characteristics as being important in the diagnosis. His Mongolian group were simply listed as strumous. He had, for practical purposes, abandoned the ethnic concept. The dictionary appeared again in 1894 and once more Langdon Down wrote the section on idiocy. He again left the ethnic concept in abeyance.' Citation: Stuart Mills, Information Officer, http://www.downs-syndrome.org.uk/

By the 20 century, "mongolian idiocy" had become the most recognizable form of mental retardation. 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 "Aktion 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.

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 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. 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.

In 1975, the United States National Institute 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." 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.

Notable individuals

Notable people with Down syndrome include:

• Chris Burke, actor (Life Goes On) and autobiographer
• Pascal Duquenne, Belgian actor, co-winner of Best Actor at the 1996 Cannes Film Festival for Le huitième jour ("The Eighth Day")
• Anne de Gaulle (1928-1948), daughter of Charles de Gaulle
• Stephane Ginnsz, actor (Duo) — first actor with Down syndrome in the lead part of a motion picture.
• Joey Moss, Edmonton Oilers locker room attendant
• Isabella Pujols, adopted daughter of St. Louis Cardinals first baseman Albert Pujols
• Judith Scott, artist
• Johnny Stallings, son of former University of Alabama head football coach Gene Stallings and subject of the book Another Season (ISBN 0767902556).
• Miguel Tomasin, singer with Argentinian avant-rock band Reynols

The Down Syndrome Association of Los Angeles maintains a list of individuals with Down syndrome in roles in TV and movies.

Portrayal in fiction

• Bret Lott: Jewel
• Bernice Rubens: A Solitary Grief
• Paul M Belous & Robert Wolterstorff: Quantum Leap: Jimmy
• Emily Perl Kingsley: Welcome to Holland
• The Kingdom and its American counterpart, Kingdom Hospital
• Stephen King: Dreamcatcher
• Dean Koontz: The Bad Place
• Jeffrey Eugenides: The Virgin Suicides
• Petal Mitchell, character in EastEnders
• Kim Edwards: The Memory Keeper's Daughter
• June Rae Wood: The Man Who Loved Clowns

References

1. For a description of human karyotype see Mittleman, A. (editor) (1995). "An International System for Human Cytogenetic Nomeclature". Retrieved 2006-06-04. {{cite web}}: |author= has generic name (help)
2. "World Down Syndrome Day". Retrieved 2006-06-02.
3. 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.
4. "John Langdon Down: The Man and the Message". Down Syndrome Research and Practice. 6 (1): 19–24. 1999. Retrieved 2006-06-02. {{cite journal}}: Unknown parameter |Author= ignored (|author= suggested) (help)
5. Warkany, J. (1971). Congenital Malformations. Chicago: Year Book Medical Publishers, Inc. pp. 313–314. ISBN 0-8151-9098-0.
6. "Jérôme Lejeune Foundation". Retrieved 2006-06-02.
7. Gordon, Allen (1961). "Mongolism (Correspondence)". The Lancet. 1 (7180): 775. {{cite journal}}: Unknown parameter |coauthors= ignored (|author= suggested) (help)
8. Howard-Jones, Norman (1979). "On the diagnostic term "Down's disease"". Medical History. 23 (1): 102–104. PMID 153994.
9. 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.
10. Leshin, Len (2003). "What's in a name". Retrieved 2006-05-12.
11. Mason, Carolyn. Life on the Ranch:Gene Stallings may live in Texas, but he's taken a piece of Alabama with him. The Tuscaloosa News (7 September 2006). Retrieved 5 December 2006.
12. Down Syndrome Association of Los Angeles. Media Archive: Television and Film that include individuals with Down Syndrome. Retrieved 1 December 2006.

• Genetic disorders
• Disability
• Eponymous diseases
• Pediatrics
• Syndromes