Escolar Documentos
Profissional Documentos
Cultura Documentos
Down syndrome
ICD-10 Q90.
ICD-9 758.0
OMIM 190685
DiseasesDB 3898
MedlinePlus 000997
eMedicine ped/615
MeSH [2]
Down syndrome (the most common term in US English), Down's syndrome (standard in the
rest of the English-speaking world), trisomy 21, or trisomy G is a chromosomal 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 the syndrome in 1866. The disorder was identified as a
chromosome 21 trisomy by Jérôme Lejeune in 1959. The condition is characterized by a
combination of major and minor differences in structure. Often Down syndrome is associated
with some impairment of cognitive ability and physical growth as well as facial appearance.
Down syndrome in a baby can be identified with amniocentesis during pregnancy or at birth.
Individuals with Down syndrome tend to have a lower than average cognitive ability, often
ranging from mild to moderate developmental disabilities. A small number have severe to
profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000
births, although these statistics are heavily influenced by older mothers. Other factors may also
play a role.
Many of the common physical features of Down syndrome may also appear in people with a
standard set of chromosomes, including microgenia (an abnormally small chin)[1], an unusually
round face, macroglossia[2] (protruding or oversized tongue), an almond shape to the eyes caused
by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the
upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a
double crease across one or both palms, also called the Simian crease), poor muscle tone, and a
larger than normal space between the big and second toes. Health concerns for individuals with
Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux
disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.
Early childhood intervention, screening for common problems, medical treatment where
indicated, a conducive family environment, and vocational training can improve the overall
development of children with Down syndrome. Although some of the physical genetic
limitations of Down syndrome cannot be overcome, education and proper care will improve
quality of life.[3]
Contents
[hide]
• 1 Characteristics
○ 1.1 Cognitive development
○ 1.2 Fertility
• 2 Genetics
○ 2.1 Trisomy 21
○ 2.2 Mosaicism
○ 2.3 Robertsonian translocation
○ 2.4 Duplication of a portion of chromosome 21
• 3 Screening
○ 3.1 Ethical issues
• 4 Management
○ 4.1 Plastic surgery
○ 4.2 Alternative treatment
• 5 Prognosis
• 6 Epidemiology
• 7 History
• 8 Society and culture
○ 8.1 Notable individuals
○ 8.2 Portrayal in fiction
• 9 Research
• 10 Footnotes
• 11 References
○ 11.1 Research bibliography
○ 11.2 General bibliography
• 12 External links
Characteristics
Main article: Health aspects of Down syndrome
Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of
genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to
translocations). The effects of the extra copy vary greatly among people, depending on the extent
of the extra copy, genetic history, and pure chance. Down syndrome occurs in all human
populations, and analogous effects have been found in other species such as chimpanzees[19] and
mice. Recently, researchers have created transgenic mice with most of human chromosome 21
(in addition to the normal mouse chromosomes).[20] The extra chromosomal material can come
about in several distinct ways. A typical human karyotype is designated as 46,XX or 46,XY,
indicating 46 chromosomes with an XX arrangement typical of females and 46 chromosomes
with an XY arrangement typical of males.[21]
Trisomy 21
Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a
gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete
thus has 24 chromosomes. When combined with a normal gamete from the other parent, the
embryo now has 47 chromosomes, with three copies of chromosome 21. Trisomy 21 is the cause
of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in
the maternal gamete and 8% coming from nondisjunction in the paternal gamete.[22]
Mosaicism
Trisomy 21 is usually caused by nondisjunction in the gametes prior to conception, and all cells
in the body are affected. However, when some of the cells in the body are normal and other cells
have trisomy 21, it is called mosaic Down syndrome (46,XX/47,XX,+21).[23][24] This can occur in
one of two ways: a nondisjunction event during an early cell division in a normal embryo leads
to a fraction of the cells with trisomy 21; or a Down syndrome embryo undergoes nondisjunction
and some of the cells in the embryo revert to the normal chromosomal arrangement. There is
considerable variability in the fraction of trisomy 21, both as a whole and among tissues. This is
the cause of 1–2% of the observed Down syndromes.[22]
Robertsonian translocation
The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian
translocation in the karyotype of one of the parents. In this case, the long 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)). A person with such a translocation is phenotypically
normal. During reproduction, normal disjunctions leading to gametes have a significant chance
of creating a gamete with an extra chromosome 21, producing a child with Down syndrome.
Translocation Down syndrome is often referred to as familial Down syndrome. It is the cause of
2–3% of observed cases of Down syndrome.[22] It does not show the maternal age effect, and is
just as likely to have come from fathers as mothers.
Duplication of a portion of chromosome 21
Rarely, a region of chromosome 21 will undergo a duplication event. This will lead to extra
copies of some, but not all, of the genes on chromosome 21 (46,XX, dup(21q)).[25] If the
duplicated region has genes that are responsible for Down syndrome physical and mental
characteristics, such individuals will show those characteristics. This cause is very rare and no
rate estimates are available.
Screening
When
False
performed Detection
Screen positive Description
(weeks rate
rate
gestation)
Even with the best non-invasive screens, the detection rate is 90%–95% and the rate of false
positive is 2%–5%. Inaccuracies can be caused by undetected multiple fetuses (very rare with the
ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins.
Confirmation of screen positive is normally accomplished with amniocentesis or chorionic villus
sampling (CVS). Amniocentesis is an invasive procedure and involves taking amniotic fluid
from the amniotic sac and identifying fetal cells. The lab work can take several weeks but will
detect over 99.8% of all numerical chromosomal problems with a very low false positive rate.[30]
Ethical issues
A 2002 literature review of elective abortion rates found that 91–93% of pregnancies in the
United States with a diagnosis of Down syndrome were terminated.[31] Data from the National
Down Syndrome Cytogenetic Register in the United Kingdom indicates that from 1989 to 2006
the proportion of women choosing to terminate a pregnancy following prenatal diagnosis of
Down Syndrome has remained constant at around 92%.[32][33] Physicians and ethicists are
concerned about the ethical ramifications of this.[34] Conservative commentator George Will
called it "eugenics by abortion".[35] British peer Lord Rix stated that "alas, the birth of a child
with Down's syndrome is still considered by many to be an utter tragedy" and that the "ghost of
the biologist Sir Francis Galton, who founded the eugenics movement in 1885, still stalks the
corridors of many a teaching hospital".[36] Doctor David Mortimer has argued in Ethics &
Medicine that "Down's syndrome infants have long been disparaged by some doctors and
government bean counters."[37] Some members of the disability rights movement "believe that
public support for prenatal diagnosis and abortion based on disability contravenes the
movement's basic philosophy and goals."[38]
Management
Treatment of individuals with Down Syndrome depends on the particular manifestations of the
disease. For instance, individuals with congenital heart disease may need to undergo major
corrective surgery soon after birth. Other individuals may have relatively minor health problems
requiring no therapy.
Plastic surgery
Plastic surgery has sometimes been advocated and performed on children with Down syndrome,
based on the assumption that surgery can reduce the facial features associated with Down
syndrome, therefore decreasing social stigma, and leading to a better quality of life.[39] Plastic
surgery on children with Down syndrome is uncommon,[40] and continues to be controversial.
Researchers have found that for facial reconstruction, "...although most patients reported
improvements in their child's speech and appearance, independent raters could not readily
discern improvement...."[41] For partial glossectomy (tongue reduction), one researcher found that
1 out of 3 patients "achieved oral competence," with 2 out of 3 showing speech improvement.[42]
Len Leshin, physician and author of the ds-health website, has stated, "Despite being in use for
over twenty years, there is still not a lot of solid evidence in favor of the use of plastic surgery in
children with Down syndrome."[43] The National Down Syndrome Society has issued a "Position
Statement on Cosmetic Surgery for Children with Down Syndrome"[44] which states that "The
goal of inclusion and acceptance is mutual respect based on who we are as individuals, not how
we look."
Alternative treatment
See also: Alternative therapies for developmental and learning disabilities
The Institutes for the Achievement of Human Potential is a non-profit organization which treats
children who have, as the IAHP terms it, "some form of brain injury," including children with
Down syndrome. The approach of "Psychomotor Patterning" is not proven,[45] and is considered
alternative medicine.
Prognosis
These factors can contribute to a shorter life expectancy for people with Down syndrome. One
study, carried out in the United States in 2002, showed an average lifespan of 49 years, with
considerable variations between different ethnic and socio-economic groups.[46] However, in
recent decades, the life expectancy among persons with Down syndrome has increased
significantly up from 25 years in 1980. The causes of death have also changed, with chronic
neurodegenerative diseases becoming more common as the population ages. Most people with
Down Syndrome who survive into their 40s and 50s begin to suffer from an alzheimer's-like
dementia.[47]
Epidemiology
With the discovery of karyotype techniques in the 1950s, it became possible to identify
abnormalities of chromosomal number or shape. In 1959, Jérôme Lejeune discovered that Down
syndrome resulted from an extra chromosome.[57][58] The extra chromosome was subsequently
labeled as the 21st, and the condition as trisomy 21.
In 1961, eighteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy
had "misleading connotations," had become "an embarrassing term," and should be changed.[59]
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.[60] However,
almost 40 years later, the term ‘mongolism’ still appears in leading medical texts such as
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."[61] 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.[62]
Society and culture
Advocates for people with Down syndrome point to various factors, such as additional
educational support and parental support groups to improve parenting knowledge and skills.
There are also strides being made in education, housing, and social settings to create
environments which are accessible and supportive to people with Down syndrome. In most
developed countries, since the early twentieth century many people with Down syndrome were
housed in institutions or colonies and excluded from society. However, since the early 1960s
parents and their organizations (such as MENCAP), educators and other professionals have
generally advocated a policy of inclusion,[63] bringing people with any form of mental or physical
disability into general society as much as possible. In many countries, people with Down
syndrome are educated in the normal school system; there are increasingly higher-quality
opportunities to move from special (segregated) education to regular education settings.
Despite these changes, the additional support needs of people with Down syndrome can still pose
a challenge to parents and families. Although living with family is preferable to
institutionalization, people with Down syndrome often encounter patronizing attitudes and
discrimination in the wider community.
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 European Down
Syndrome Association during their European congress in Palma de Mallorca (febr. 2005). In the
United States, the National Down Syndrome Society observes Down Syndrome Month every
October as "a forum for dispelling stereotypes, providing accurate information, and raising
awareness of the potential of individuals with Down syndrome."[64] In South Africa, Down
Syndrome Awareness Day is held every October 20.[65] Organizations such as Special Olympics
Hawaii provide year-round sports training for individuals with intellectual disabilities such as
down syndrome.
Notable individuals
Scottish award-winning film and TV actress Paula Sage receives her BAFTA award with Brian
Cox.
• Stephane Ginnsz, actor (Duo)—In 1996 was first actor with Down syndrome in the lead
part of a motion picture.[66]
• Joey Moss, Edmonton Oilers locker room attendant.[67]
• Isabella Pujols, adopted daughter of St. Louis Cardinals first baseman Albert Pujols and
inspiration for the Pujols Family Foundation.[68]
• Paula Sage, Scottish film actress and Special Olympics netball athlete.[69] Her role in the
2003 film AfterLife brought her a BAFTA Scotland award for best first time performance
and Best Actress in the Bratislava International Film Festival, 2004.[70]
• Chris Burke, American actor who portrayed "Corky Thatcher" on the television series
Life Goes On and "Taylor" on Touched By An Angel.
• Edward Barbanell, played Billy in 2005's The Ringer.
• Danny Alsabbagh, Australian actor who played Toby in the Australian mockumentary
series Summer Heights High
• Tommy Jessop, British actor who played Ben in Coming Down the Mountain, opposite
Nicholas Hoult
• Rene Moreno, subject of "Up Syndrome" - a documentary film about life with Down
syndrome.[71][72]
• Nigel Hunt, British author (The World Of Nigel Hunt; The Diary Of A Mongoloid Youth
-- this book was published in 1967, when "mongoloid" was still quite commonly used to
refer to people with Down's Syndrome).
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
• Theodore Sturgeon: More Than Human
• Janet Mitchell, character in EastEnders
• Kim Edwards: The Memory Keeper's Daughter
• June Rae Wood: The Man Who Loved Clowns
• Jaco van Dormael: Le huitième jour
• Mark Haddon: Coming Down the Mountain (BBC Radio play and BBC TV Drama)
• Theodore "T-Bag" Bagwell's mother: Prison Break
• Chris Burke as Charles "Corky" Thatcher in Life Goes On
• "Toby": Summer Heights High
Research
Main article: Research of Down syndrome-related genes
Down syndrome is “a developmental abnormality characterized by trisomy of human
chromosome 21" (Nelson 619). The extra copy of chromosome-21 leads to an over expression of
certain genes located on chromosome-21.
Research by Arron et al. shows that some of the phenotypes associated with Down syndrome can
be related to the disregulation of transcription factors (596), and in particular, NFAT. NFAT is
controlled in part by two proteins, DSCR1 and DYRK1A; these genes are located on
chromosome-21 (Epstein 582). In people with Down syndrome, these proteins have 1.5 times
greater concentration than normal (Arron et al. 597). The elevated levels of DSCR1 and
DYRK1A keep NFAT primarily located in the cytoplasm rather than in the nucleus, preventing
NFATc from activating the transcription of target genes and thus the production of certain
proteins (Epstein 583).
This dysregulation was discovered by testing in transgenic mice that had segments of their
chromosomes duplicated to simulate a human chromosome-21 trisomy (Arron et al. 597). A test
involving grip strength showed that the genetically modified mice had a significantly weaker
grip, much like the characteristically poor muscle tone of an individual with Down syndrome
(Arron et al. 596). The mice squeezed a probe with a paw and displayed a .2 newton weaker grip
(Arron et al. 596). Down syndrome is also characterized by increased socialization. When
modified and unmodified mice were observed for social interaction, the modified mice showed
as much as 25% more interactions as compared to the unmodified mice (Arron et al. 596).
The genes that may be responsible for the phenotypes associated may be located proximal to
21q22.3. Testing by Olson et al. in transgenic mice show the duplicated genes presumed to cause
the phenotypes are not enough to cause the exact features. While the mice had sections of
multiple genes duplicated to approximate a human chromosome-21 triplication, they only
showed slight craniofacial abnormalities (688-690). The transgenic mice were compared to mice
that had no gene duplication by measuring distances on various points on their skeletal structure
and comparing them to the normal mice (Olson et al. 687). The exact characteristics of Down
syndrome were not observed, so more genes involved for Down Syndrome phenotypes have to
be located elsewhere.
Reeves et al., using 250 clones of chromosome-21 and specific gene markers, were able to map
the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995%
accuracy due to multiple redundancies in the mapping techniques. In the study 225 genes were
identified (311-313).
The search for major genes that may be involved in Down syndrome symptoms is normally in
the region 21q21–21q22.3. However, studies by Reeves et al. show that 41% of the genes on
chromosome-21 have no functional purpose, and only 54% of functional genes have a known
protein sequence. Functionality of genes was determined by a computer using exon prediction
analysis (312). Exon sequence was obtained by the same procedures of the chromosome-21
mapping.
Research has led to an understanding that two genes located on chromosome-21, that code for
proteins that control gene regulators, DSCR1 and DYRK1A can be responsible for some of the
phenotypes associated with Down syndrome. DSCR1 and DYRK1A cannot be blamed outright
for the symptoms; there are a lot of genes that have no known purpose. Much more research
would be needed to produce any appropriate or ethically acceptable treatment options.
Recent use of transgenic mice to study specific genes in the Down syndrome critical region has
yielded some results. APP[73] is an Amyloid beta A4 precursor protein. It is suspected to have a
major role in cognitive difficulties.[74] Another gene, ETS2[75] is Avian Erythroblastosis Virus
E26 Oncogene Homolog 2. Researchers have "demonstrated that over-expression of ETS2
results in apoptosis. Transgenic mice over-expressing ETS2 developed a smaller thymus and
lymphocyte abnormalities, similar to features observed in Down syndrome."[75]
Vitamin supplements, in particular supplemental antioxidants and folinic acid, have been shown
to be ineffective in the treatment of Down syndrome.[76]
Footnotes
1. ^ a b Meira Weiss. "Conditional love: parents' attitudes toward handicapped children". p. page 94.
http://books.google.com/books?id=a62J5GPHd3cC&pg=PA94&lpg=PA94&dq=%22down
%27s+syndrome
%22+chin+face&source=bl&ots=hVCgwMgpKi&sig=dZ3TYZnWjWMEnTioJY9WQcLP_4E&
hl=en&ei=0Q9nSsegJYOZjAe6ypmmAQ&sa=X&oi=book_result&ct=result&resnum=5.
Retrieved 2009-07-22.
2. ^ a b c This discussion by Myron Belfer, M.D., book by Gottfried Lemperie, M.D., and Dorin
Radu, M.D. (1980). "Facial Plastic Surgery in Children with Down's Syndrome (preview page,
with link to full content on plasreconsurg.com)". p. page 343. http://scholar.google.com/scholar?
q=info:Nt6asksVAiYJ:scholar.google.com/&hl=en&output=viewport. Retrieved 2009-07-22.
3. ^ Roizen NJ, Patterson D.Down's syndrome. Lancet. 2003 12 April;361(9365):1281–9. Review.
PMID 12699967
4. ^ "Definition of Brushfield's Spots". http://www.medterms.com/script/main/art.asp?
articlekey=6570.
5. ^ a b American Academy of Pediatrics Committee on Genetics (February 2001). "American
Academy of Pediatrics: Health supervision for children with Down syndrome". Pediatrics 107
(2): 442–449. doi:10.1542/peds.107.2.442. PMID 11158488.
6. ^ Strom, C. "FAQ from Mosaic Down Syndrome Society".
http://www.mosaicdownsyndrome.com/faqs.htm. Retrieved 2006-06-03.
7. ^ Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA
from 1983 to 1997: a population-based study. Lancet 2002 23 March;359(9311):1019–25. PMID
11937181
8. ^ a b c [1][dead link]
9. ^ "Dear New or Expectant Parents". National Down Syndrome Society.
http://www.ndss.org/index.php?option=com_content&task=view&id=2015&Itemid=198.
Retrieved 2006-05-12. Also "Research projects - Early intervention and education".
http://www.downsed.org/topics/early-intervention/. Retrieved 2006-06-02.
10.^ Bird, G. and S. Thomas (2002). "Providing effective speech and language therapy for children
with Down syndrome in mainstream settings: A case example". Down Syndrome News and
Update 2 (1): 30–31. Also, Kumin, Libby (1998). "Comprehensive speech and language
treatment for infants, toddlers, and children with Down syndrome". in Hassold, T.J.and D.
Patterson. Down Syndrome: A Promising Future, Together. New York: Wiley-Liss.
11.^ "Development of Fine Motor Skills in Down Syndrome". http://www.about-down-
syndrome.com/fine-motor-skills-in-down-syndrome.html. Retrieved 2006-07-03.
12.^ M. Bruni. "Occupational Therapy and the Child with Down Syndrome". http://www.ds-
health.com/occther.htm. Retrieved 2006-06-02.
13.^ Roberts JE, Price J, Malkin C (2007). "Language and communication development in Down
syndrome". Ment Retard Dev Disabil Res Rev 13 (1): 26–35. doi:10.1002/mrdd.20136. PMID
17326116.
14.^ S.E.Armstrong. "Inclusion: Educating Students with Down Syndrome with Their Non-Disabled
Peers". http://www.altonweb.com/cs/downsyndrome/index.htm?page=ndssincl.html. Retrieved
2006-05-12. Also, see Debra L. Bosworth. "Benefits to Students with Down Syndrome in the
Inclusion Classroom: K-3". http://www.altonweb.com/cs/downsyndrome/index.htm?
page=bosworth.html. Retrieved 2006-06-12. Finally, see a survey by NDSS on inclusion, Gloria
Wolpert (1996). "The Educational Challenges Inclusion Study". National Down Syndrome
Society. http://www.altonweb.com/cs/downsyndrome/index.htm?page=wolpert.html. Retrieved
2006-06-28.
15.^ There are many such programs. One is described by Action Alliance for Children, K. Flores.
"Special needs, "mainstream" classroom". http://www.4children.org/news/103spec.htm.
Retrieved 2006-05-13. Also, see Flores, K.. "Special needs, "mainstream" classroom".
http://www.4children.org/pdf/103spec.pdf. Retrieved 2006-05-13.
16.^ Hsiang YH, Berkovitz GD, Bland GL, Migeon CJ, Warren AC (1987). "Gonadal function in
patients with Down syndrome". Am. J. Med. Genet. 27 (2): 449–58.
doi:10.1002/ajmg.1320270223. PMID 2955699.
17.^ Sheridan R, Llerena J, Matkins S, Debenham P, Cawood A, Bobrow M (1989). "Fertility in a
male with trisomy 21". J Med Genet 26 (5): 294–8. doi:10.1136/jmg.26.5.294. PMID 2567354.
18.^ Pradhan M, Dalal A, Khan F, Agrawal S (2006). "Fertility in men with Down syndrome: a case
report". Fertil Steril 86 (6): 1765.e1–3. doi:10.1016/j.fertnstert.2006.03.071. PMID 17094988.
19.^ McClure HM, Belden KH, Pieper WA, Jacobson CB. Autosomal trisomy in a chimpanzee:
resemblance to Down's syndrome. Science. 1969 5 September;165(897):1010–2. PMID 4240970
20.^ "Down's syndrome recreated in mice". BBC News. 2005-09-22.
http://news.bbc.co.uk/1/hi/health/4268226.stm. Retrieved 2006-06-14.
21.^ For a description of human karyotype see Mittleman, A. (editor) (1995). "An International
System for Human Cytogenetic Nomeclature". http://www.iscn1995.org/. Retrieved 2006-06-04.
22.^ a b c "Down syndrome occurrence rates (NIH)".
http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm#TheOccurrence. Retrieved
2006-06-02.
23.^ Mosaic Down syndrome on the Web
24.^ International Mosaic Down syndrome Association
25.^ Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis SE.
Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with
different duplications of 21q. Am J Med Genet Suppl. 1990;7:104-9. PMID 2149934
26.^ For a current estimate of rates, see Benn, PA, J Ying, T Beazoglou, JFX Egan (2001).
"Estimates for the sensitivity and false-positive rates for second trimester serum screening for
Down syndrome and trisomy 18 with adjustments for cross-identification and double-positive
results". Prenatal Diagnosis 21 (1): 46–51. doi:10.1002/1097-0223(200101)21:1<46::AID-
PD984>3.0.CO;2-C. PMID 11180240
27.^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Combined Test is 82-87%
28.^ NIH FASTER study (NEJM 2005 (353):2001). See also J.L. Simplson's editorial (NEJM 2005
(353):19).
29.^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Integrated Test is 94-96%
30.^ Fackler, A. "Down syndrome".
http://health.yahoo.com/topic/children/baby/article/healthwise/hw167989. Retrieved 2006-09-07.
31.^ Caroline Mansfield, Suellen Hopfer, Theresa M. Marteau (1999). "Termination rates after
prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter
syndromes: a systematic literature review". Prenatal Diagnosis 19 (9): 808–812. doi:10.1002/
(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B.
http://www3.interscience.wiley.com/cgi-bin/abstract/65500197/ABSTRACT. PMID 10521836
This is similar to 90% results found by David W. Britt, Samantha T. Risinger, Virginia Miller,
Mary K. Mans, Eric L. Krivchenia, Mark I. Evans (1999). "Determinants of parental decisions
after the prenatal diagnosis of Down syndrome: Bringing in context". American Journal of
Medical Genetics 93 (5): 410–416. doi:10.1002/1096-8628(20000828)93:5<410::AID-
AJMG12>3.0.CO;2-F. PMID 10951466
32.^ "Society 'more positive on Down's'". BBC News. 2008-11-24.
http://news.bbc.co.uk/1/hi/health/7746747.stm.
33.^ Peter Horrocks (2008-12-05). "Changing attitudes?". BBC News.
http://www.bbc.co.uk/blogs/theeditors/2008/12/changing_attitudes.html.
34.^ Glover, NM and Glover, SJ (1996). "Ethical and legal issues regarding selective abortion of
fetuses with Down syndrome". Ment. Retard. 34 (4): 207–214. PMID 8828339.
35.^ Will, George (2005-04-01). "Eugenics By Abortion: Is perfection an entitlement?". Washington
Post: A37. http://www.washingtonpost.com/wp-dyn/articles/A51671-2005Apr13.html.
36.^ Letter: Ghost of eugenics stalks Down's babies | Independent, The (London) | Find Articles at
BNET.com
37.^ New Eugenics and the newborn: The historical "cousinage" of eugenics and infanticide, The |
Ethics & Medicine | Find Articles at BNET.com
38.^ Erik Parens and Adrienne Asch (2003). "Disability rights critique of prenatal genetic testing:
Reflections and recommendations". Mental Retardation and Developmental Disabilities
Research Reviews 9 (1): 40–47. doi:10.1002/mrdd.10056.
http://www3.interscience.wiley.com/cgi-bin/abstract/102531130/ABSTRACT. Retrieved 2006-
07-03. PMID 12587137
39.^ Olbrisch RR (1982). "Plastic surgical management of children with Down syndrome:
indications and results". British Journal of Plastic Surgery 35: 195–200. doi:10.1016/0007-
1226(82)90163-1.
40.^ Parens, E. (editor) (2006). Surgically Shaping Children : Technology, Ethics, and the Pursuit of
Normality. Baltimore: Johns Hopkins University Press. ISBN 0-8018-8305-9.
41.^ Klaiman, P and E Arndt (1989). "Facial reconstruction in Down syndrome: perceptions of the
results by parents and normal adolescents". Cleft Palate Journal 26: 186–190; discussion 190–
192. PMID 2527096. Also, see Arndt, EM, A Lefebvre, F Travis, and IR Munro (1986). "Fact
and fantasy: psychosocial consequences of facial surgery in 24 Down syndrome children". Br J
Plast Surg 4: 498–504. doi:10.1016/0007-1226(86)90120-7. PMID 2946342.
42.^ SA Pensler (1990). "The efficacy of tongue resection in treatment of symptomatic macroglossia
in the child". Ann Plast Surg 25: 14–17. doi:10.1097/00000637-199007000-00003. See also KM
Van Lierde, H Vermeersch, J Van Borsel, P Van Cauwenberge (2002/2003). "The impact of a
partial glossectomy on articulation and speech intelligibility". Oto-Rhino-Laryngologia Nova 12:
305–310. doi:10.1159/000083122.
43.^ Leshin, L (2000). "Plastic Surgery in Children with Down Syndrome". http://www.ds-
health.com/psurg.htm. Retrieved 2006-07-25.
44.^ National Down Syndrome Society. "Position Statement on Cosmetic Surgery for Children with
Down Syndrome". http://www.ndss.org/content.cfm?fuseaction=InfoRes.HlthArticle&article=34.
Retrieved 2006-06-02.
45.^ For criticism of the method, see Novella, S. "Psychomotor Patterning".
http://www.quackwatch.org/01QuackeryRelatedTopics/patterning.html. Retrieved 2006-06-02.
46.^ Young, Emma (2002-03-22). "Down's syndrome lifespan doubles". New Scientist.
http://www.newscientist.com/article.ns?id=dn2073. Retrieved 2006-10-14.
47.^ Current Medical Dianosis & Treatment 1999 ed. Lawrence M. Tierney, Jr., MD, Stephen J.
McPhee, MD, Maxine A. Papadakis, MD, Appleton & Lange, 1999. pp.1546 ISBN 0-8385-1550-
9
48.^ Based on estimates by National Institute of Child Health & Human Development "Down
syndrome rates". Archived from the original on 2006-09-01.
http://web.archive.org/web/20060901004316/http://www.nichd.nih.gov/publications/pubs/downs
yndrome/down.htm#Questions. Retrieved 2006-06-21.
49.^ Center for Disease Control (6 January 2006). "Improved National Prevalence Estimates for 18
Selected Major Birth Defects, United States, 1999–2001". Morbidity and Mortality Weekly
Report 54 (51 & 52): 1301–1305.
http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5451a2.htm.
50.^ Huether, C.A. (1998). "Maternal age specific risk rate estimates for Down syndrome among
live births in whites and other races from Ohio and metropolitan Atlanta, 1970-1989". J Med
Genet 35(6): 482–490. doi:10.1136/jmg.35.6.482. PMCID: PMC1051343
51.^ Estimate from "National Down Syndrome Center".
http://www.ndsccenter.org/resources/package3.php. Retrieved 2006-04-21.
52.^ "Prevalence and Incidence of Down Syndrome". Diseases Center-Down Syndrome. Adviware
Pty Ltd.. 2008-02-04. http://www.wrongdiagnosis.com/d/down_syndrome/prevalence.htm.
Retrieved 2008-02-17. "incidence increases...especially when...the father is older than age 42"
53.^ Warner, Jennifer. "Dad's Age Raises Down Syndrome Risk, Too", "WebMD Medical News".
http://www.webmd.com/infertility-and-reproduction/news/20030701/dad-age-down-syndrome.
Retrieved 2007-09-29.
54.^ Down, J.L.H. (1866). "Observations on an ethnic classification of idiots". Clinical Lecture
Reports, London Hospital 3: 259–262. http://www.neonatology.org/classics/down.html.
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)".
http://www.intellectualdisability.info/values/history_DS.htm. Retrieved 2006-06-02.
55.^ Conor, W.O. (1999). "John Langdon Down: The Man and the Message". Down Syndrome
Research and Practice 6 (1): 19–24. doi:10.3104/perspectives.94.
56.^ Warkany, J. (1971). Congenital Malformations. Chicago: Year Book Medical Publishers, Inc.
pp. 313–314. ISBN 0-8151-9098-0.
57.^ Lejeune J, Gautier M, Turpin R (1959). "Etude des chromosomes somatiques de neuf enfants
mongoliens". Comptes Rendus Hebd Seances Acad Sci 248 (11): 1721–1722.
http://gallica.bnf.fr/ark:/12148/bpt6k32002/f1759.chemindefer.
58.^ "Jérôme Lejeune Foundation".
http://www.fondationlejeune.org/eng/Content/Fondation/professeurlj.asp. Retrieved 2006-06-02.
59.^ Gordon, Allen; C.E. Benda, J.A. Böök, C.O. Carter, C.E. Ford, E.H.Y. Chu, E. Hanhart,
George Jervis, W. Langdon-Down, J. Lejeune, H. Nishimura, J. Oster, L.S. Penrose, P.E. Polani,
Edith L. Potter, Curt Stern, R. Turpin, J. Warkany, and Herman Yannet (1961). "Mongolism
(Correspondence)". The Lancet 1 (7180): 775.
60.^ Howard-Jones, Norman (1979). "On the diagnostic term "Down's disease"". Medical History 23
(1): 102–104. PMID 153994.
61.^ 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. doi:10.1016/S0140-6736(74)92858-X. PMID 4132724. 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.
doi:10.1016/S0140-6736(75)92847-0. PMID 46972.
62.^ Leshin, Len (2003). "What's in a name". http://www.ds-health.com/name.htm. Retrieved 2006-
05-12.
63.^ Inclusion. National Down Syndrome Society. http://www.ndss.org/index.php?
option=com_content&task=view&id=1941&Itemid=236. Retrieved 2006-05-21.
64.^ National Down Syndrome Society
65.^ Down Syndrome South Africa
66.^ Stephane Ginnsz. "Film Actor with Down Syndrome". ginnsz.com.
http://www.stephane.ginnsz.com/. Retrieved 2006-12-08.
67.^ Lomon, Chris (2003-02-28). "NHL Alumni RBC All-Star Awards Dinner". NHL Alumni.
http://www.nhlalumni.com/slam/hockey/nhlalumni/news/03/0228.html. Retrieved 2006-12-08.
68.^ "Pujols Family Foundation Home Page". http://www.pujolsfamilyfoundation.org/index2.html.
Retrieved 2006-12-08.
69.^ "Special Olympic Athlete Stars in Movie".
http://www.specialolympics.org/Special+Olympics+Public+Website/English/Press_Room/Global
_News_Archive/2004+Global+News+Archive/Special+Olympics+athlete+stars+in+movie.htm.
Retrieved 2007-11-05.
70.^ "Bratislava International Film festival 2004".
http://www.imdb.com/Sections/Awards/Bratislava_International_Film_Festival/2004. Retrieved
2007-11-05.
71.^ "Up Syndrome on the Internet Movie Database". http://us.imdb.com/title/tt0261375/. Retrieved
2009-04-19.
72.^ "Friends on Both Sides of Film".
http://www.caller2.com/2001/april/27/today/ricardob/24440.html. Retrieved 2001-04-27. from
the Corpus-Christi Caller Times
73.^ Online 'Mendelian Inheritance in Man' (OMIM) AMYLOID BETA A4 PRECURSOR
PROTEIN; APP -104760, gene located at 21q21. Retrieved on 2006-12-05.
74.^ Shekhar, Chandra (2006-07-06). "Down syndrome traced to one gene". The Scientist.
http://www.the-scientist.com/news/display/23869/. Retrieved 2006-07-11.
75.^ a b Online 'Mendelian Inheritance in Man' (OMIM) V-ETS AVIAN ERYTHROBLASTOSIS
VIRUS E26 ONCOGENE HOMOLOG 2; ETS2 -164740, located at 21 q22.3. Retrieved on
2006-12-05.
76.^ Ellis JM, Tan HK, Gilbert RE, et al. (2008). "Supplementation with antioxidants and folinic
acid for children with Down's syndrome: randomised controlled trial". BMJ 336 (7644): 594–7.
doi:10.1136/bmj.39465.544028.AE. PMID 18296460.
References
Research bibliography
• Arron JR, Winslow MM, Polleri A, et al. (2006). "NFAT dysregulation by increased
dosage of DSCR1 and DYRK1A on chromosome 21". Nature 441 (7093): 595–600.
doi:10.1038/nature04678. PMID 16554754.
• Epstein CJ (June 2006). "Down's syndrome: critical genes in a critical region". Nature
441 (7093): 582–3. doi:10.1038/441582a. PMID 16738647.
• Ganong, W.J. (2005). Review of Medical Physiology (21st ed.). New York: Mc-Graw
Hill. ISBN 0071402365.
• Nelson DL, Gibbs RA (2004). "Genetics. The critical region in trisomy 21". Science
(journal) 306 (5696): 619–21. doi:10.1126/science.1105226. PMID 15499000.
• Olson LE, Richtsmeier JT, Leszl J, Reeves RH (2004). "A chromosome 21 critical region
does not cause specific Down syndrome phenotypes". Science (journal) 306 (5696): 687–
90. doi:10.1126/science.1098992. PMID 15499018.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human
chromosome 21". Nature 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
• Underwood, J.C.E. (2004). General and Systematic Pathology (4th ed.). Edinburgh:
Churchill Livingstone. ISBN 0443073341.
General bibliography
• Beck, M.N. (1999). Expecting Adam. New York: Berkley Books.
• Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome
Educational Trust. ISBN 1903806011. http://books.google.com/books?
id=__5wB08U2hMC.
• Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New
Parents. Buckinghamshire, UK: Down Syndrome Research Foundation.
http://www.dsrf.co.uk/Reading_material/Bright_beginnings.htm.
• Dykens EM (2007). "Psychiatric and behavioral disorders in persons with Down
syndrome". Ment Retard Dev Disabil Res Rev 13 (3): 272–8. doi:10.1002/mrdd.20159.
PMID 17910080.
• Hassold, T.J., D. Patterson, eds. (1999). Down Syndrome: A Promising Future, Together.
New York: Wiley Liss.
• Kingsley, J.; M. Levitz (1994). Count Us In: Growing up with Down Syndrome. San
Diego: Harcourt Brace.
• Pueschel, S.M., M. Sustrova, eds. (1997). Adolescents with Down Syndrome: Toward a
More Fulfilling Life. Baltimore, MD: Paul H. Brookes.
• Selikowitz, M. (1997). Down Syndrome: The Facts (2nd ed.). Oxford, UK: Oxford
University Press. ISBN 0192626620.
• Van Dyke, D.C.; P.J. Mattheis, S. Schoon Eberly, J. Williams (1995). Medical and
Surgical Care for Children with Down Syndrome. Bethesda, MD: Woodbine House.
ISBN 0933149549.
• Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press.
ISBN 0807028177.
External links
[hide]
v•d•e
Pathology: chromosome abnormalities (Q90-Q99 · 758)
Gonadal
Mixed gonadal dysgenesis · XX gonadal dysgenesis
dysgenesis
Special:Search Go Search
Bottom of Form
Interaction
• About Wikipedia
• Community portal
• Recent changes
• Contact Wikipedia
• Donate to Wikipedia
• Help
Toolbox
• What links here
• Related changes
• Upload file
• Special pages
• Printable version
• Permanent link
• Cite this page
Languages
• العربية
• Bosanski
• Català
• Česky
• Cymraeg
• Dansk
• Deutsch
• ް ަދިވެހިބ
ސ
• Eesti
• Ελληνικά
• Español
• Esperanto
• Euskara
• فارسی
• Français
• Galego
• 한국어
• Bahasa Indonesia
• Italiano
• עברית
• ქართული
• Kurdî / كوردی
• Latviešu
• Lietuvių
• Magyar
• Bahasa Melayu
• Монгол
• Nederlands
• नेपाल भाषा
• 日本語
• Norsk (bokmål)
• Polski
• Português
• Română
• Русский
• Shqip
• Simple English
• Slovenčina
• Slovenščina
• Српски / Srpski
• Srpskohrvatski / Српскохрватски
• Suomi
• Svenska
• తలుగు
• ไทย
• Türkçe
• Українська
• Yorùbá
• 粵語
• 中文