Difference between revisions of "Down syndrome"
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| − | '''Down syndrome''' (also written as '''Down's syndrome''', technical name '''Trisomy 21'''<ref>http://www.ds-health.com/trisomy.htm</ref>) is a genetic disorder caused by an extra copy of [[chromosome]] 21. The greatest risk factor for having a child with Down syndrome is increased maternal (and, to a lesser extent, paternal) age. | + | '''Down syndrome''' (also written as '''Down's syndrome''', technical name '''Trisomy 21'''<ref>http://www.ds-health.com/trisomy.htm</ref>) is a genetic disorder caused by an extra copy of [[chromosome]] 21. It is the most common syndrome caused by chromosomal abnormalities in human beings. The greatest risk factor for having a child with Down syndrome is increased maternal (and, to a lesser extent, paternal) age. |
| − | The name comes from [[British]] [[physician]] [[John Langdom Down]], who described the syndrome in his [[1862]] paper, "Observations on an Ethnic Classification of Idiots". Down conjectured that the syndrome was a "degeneracy" of [[caucasians]] to [[mongols]] (the [[mongolian]] race was one of the five racial classifications commonly used at the time), and the term '''mongolism''' was | + | == History == |
| + | The name comes from [[British]] [[physician]] [[John Langdom Down]], who described the syndrome in his [[1862]] paper, "Observations on an Ethnic Classification of Idiots". Down conjectured that the syndrome was a "degeneracy" of [[caucasians]] to [[mongols]] (the [[mongolian]] race was one of the five racial classifications commonly used at the time), and the term '''mongolism''' was inspired by his paper. Currently, the terms "mongolism" and "mongoloid" are considered offensive. <!-- reference: | ||
http://www.neonatology.org/classics/down.html, original paper //--> | http://www.neonatology.org/classics/down.html, original paper //--> | ||
| + | == Signs and symptoms == | ||
The most important medical aspect of Down syndrome is [[mental retardation]]. Individuals with Down syndrome have mild to severe mental retardation. It is impossible to reliably predict what the eventual level of function of a child with Down syndrome will be. | The most important medical aspect of Down syndrome is [[mental retardation]]. Individuals with Down syndrome have mild to severe mental retardation. It is impossible to reliably predict what the eventual level of function of a child with Down syndrome will be. | ||
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* Weak muscle tone | * Weak muscle tone | ||
* Enlarged, protruding [[tongue]] | * Enlarged, protruding [[tongue]] | ||
| − | * [[Congenital heart defect]] | + | * [[Congenital heart defect]]- Atrioventricular septal defects |
* [[Gastroesophageal reflux disease]] | * [[Gastroesophageal reflux disease]] | ||
* [[Otitis]] and hearing deficits | * [[Otitis]] and hearing deficits | ||
* [[Sleep apnea]] | * [[Sleep apnea]] | ||
* [[Thyroid]] hormone problems | * [[Thyroid]] hormone problems | ||
| − | * [[Leukemia]] | + | * Increased risk of [[Leukemia]], but reduced risk of other forms of [[cancer]] |
* Early onset [[Alzheimer's disease]] | * Early onset [[Alzheimer's disease]] | ||
| − | + | People with Down Syndrome have significantly lesser rates of cancer than other people;<ref>[http://www.downsyn.com/cancer.php]</ref> in fact, recent studies about the correlation of Down Syndrome and cancer may even provide a cure for cancer.<ref>http://www.nature.com/news/2009/090520/full/news.2009.493.html</ref> | |
The greatest risk factor in is increased maternal age, the majority of children with Down syndrome are born to mothers under the age of 35, because the vast majority of children as a whole are born to younger mothers. | The greatest risk factor in is increased maternal age, the majority of children with Down syndrome are born to mothers under the age of 35, because the vast majority of children as a whole are born to younger mothers. | ||
| + | |||
| + | == Treatment == | ||
| + | On July 13, 2013, researchers at University of Massachusetts—Worcester took cells from Down syndrome people and were able to turn off the extra chromosomes that cause the disorder, though available treatment is still a long way from now.<ref>https://www.theguardian.com/science/2013/jul/17/downs-syndrome-cells-fixed-chromosome-therapy</ref> | ||
==References== | ==References== | ||
Latest revision as of 03:03, May 14, 2018
Down syndrome (also written as Down's syndrome, technical name Trisomy 21[1]) is a genetic disorder caused by an extra copy of chromosome 21. It is the most common syndrome caused by chromosomal abnormalities in human beings. The greatest risk factor for having a child with Down syndrome is increased maternal (and, to a lesser extent, paternal) age.
History
The name comes from British physician John Langdom Down, who described the syndrome in his 1862 paper, "Observations on an Ethnic Classification of Idiots". Down conjectured that the syndrome was a "degeneracy" of caucasians to mongols (the mongolian race was one of the five racial classifications commonly used at the time), and the term mongolism was inspired by his paper. Currently, the terms "mongolism" and "mongoloid" are considered offensive.
Signs and symptoms
The most important medical aspect of Down syndrome is mental retardation. Individuals with Down syndrome have mild to severe mental retardation. It is impossible to reliably predict what the eventual level of function of a child with Down syndrome will be.
Other characteristics of Down syndrome (not all of which affect every individual who has Down's) are :
- Single transverse palmar crease
- Epicanthic folds and oblique eye opening
- Smaller limbs
- Weak muscle tone
- Enlarged, protruding tongue
- Congenital heart defect- Atrioventricular septal defects
- Gastroesophageal reflux disease
- Otitis and hearing deficits
- Sleep apnea
- Thyroid hormone problems
- Increased risk of Leukemia, but reduced risk of other forms of cancer
- Early onset Alzheimer's disease
People with Down Syndrome have significantly lesser rates of cancer than other people;[2] in fact, recent studies about the correlation of Down Syndrome and cancer may even provide a cure for cancer.[3]
The greatest risk factor in is increased maternal age, the majority of children with Down syndrome are born to mothers under the age of 35, because the vast majority of children as a whole are born to younger mothers.
Treatment
On July 13, 2013, researchers at University of Massachusetts—Worcester took cells from Down syndrome people and were able to turn off the extra chromosomes that cause the disorder, though available treatment is still a long way from now.[4]
