Down_syndrome by zzzmarcus

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Down syndrome

Down syndrome
Down syndrome Classification and external resources

Boy with Down syndrome assembling a bookcase

ICD-10 ICD-9 OMIM DiseasesDB MedlinePlus eMedicine MeSH

Q90. 758.0 190685 3898 000997 ped/615 D004314

Down syndrome, Down’s syndrome, or trisomy 21 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 the age of the mother. Other factors may also play a role. Many of the common physical features of Down syndrome also appear in people with a

standard set of chromosomes. They may include a single transverse palmar crease (a single instead of a double crease across one or both palms, also called the Simian crease), 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, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. 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.[1]


Example of white spots on the iris known as Brushfield spots Individuals with Down syndrome may have some or all of the following physical characteristics: oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short


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neck, white spots on the iris known as Brushfield spots,[2] excessive joint laxity including atlanto-axial instability, congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range,[3] with individuals having Mosaic Down syndrome typically 10–30 points higher.[4] In addition, individuals with Down syndrome can have serious abnormalities affecting any body system. They also may have a broad head and a very round face.

Down syndrome
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.[7]

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.[8]


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).[9][10] 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.[8]

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[5] and mice. Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes).[6] The extra chromosomal material

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.


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Translocation Down syndrome is often referred to as familial Down syndrome. It is the cause of 2–3% of observed cases of Down syndrome.[8] It does not show the maternal age effect, and is just as likely to have come from fathers as mothers.

Down syndrome
under the age of 35,[15] reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42,[16] also increases the risk of Down Syndrome manifesting in pregnancies in older mothers.[17] Current research (as of 2008) has shown that Down syndrome is due to a random event during the formation of sex cells or pregnancy. There has been no evidence that it is due to parental behavior (other than age) or environmental factors.

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)).[11] 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.

Prenatal screening
Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. ACOG guidelines recommend that non-invasive screening and invasive testing be offered to all women, regardless of their age, and most likely all physicians currently follow these guidelines. However, some insurance plans will only reimburse invasive testing if a woman is >34 years old or if she has received a high-risk score from a non-invasive screening test. Amniocentesis and CVS are considered invasive procedures, in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. The risks of miscarriage for CVS and amniocentesis are often quoted as 1% and 0.5% respectively. There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester. Due to the nature of screens, each has a significant chance of a false positive, suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality. Screen positives must be verified before a Down syndrome diagnosis is made. Common screening procedures for Down syndrome are given in Table 1.


Graph showing probability of Down syndrome as a function of maternal age. The incidence of Down syndrome is estimated at one per 800 to one per 1000 births.[12] In 2006, the Centers for Disease Control and Prevention estimated the rate as one per 733 live births in the United States (5429 new cases per year).[13] Approximately 95% of these are trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes. Maternal age influences the chances of conceiving a baby with Down syndrome. At maternal age 20 to 24, the probability is one in 1562; at age 35 to 39 the probability is one in 214, and above age 45 the probability is one in 19.[14] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women


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Down syndrome

Table 1: First and second trimester Down syndrome screens Screen When per- Detection False Description formed rate positive (weeks rate gestation) 81%[18] 5% This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and inhibin-Alpha (INHA).[19] Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associated plasma protein A). NIH has confirmed that this first trimester test is more accurate than second trimester screening methods.[21] Performing an NT ultrasound requires considerable skill; a Combined test may be less accurate if there is operator error, resulting in a lower-thanadvertised sensitivity and higher false-positive rate, possibly in the 5-10% range. The Integrated test uses measurements from both the 1st Trimester Combined test and the 2nd trimester Quad test to yield a more accurate screening result. Because all of these tests are dependent on accurate calculation of the gestational age of the fetus, the realworld false-positive rate is >5% and maybe be closer to 7.5%. 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.[23]

Quad screen 15–20

Nuchal 10–13.5 translucency/ free beta/ PAPPA screen (aka "1st Trimester Combined Test")



Integrated Test

10-13.5 and 15–20



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.[24] 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’s Syndrome has remained constant at around 92%.[25][26] Physicians and ethicists are concerned about the ethical ramifications of this.[27] Conservative commentator George Will called it "eugenics by abortion".[28] British peer Lord Rix stated that "alas, the birth of a child with

Ultrasound of fetus with Down syndrome and megacystis 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


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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".[29] Doctor David Mortimer has argued in Ethics & Medicine that "Down’s syndrome infants have long been disparaged by some doctors and government bean counters."[30] 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."[31] A 1998 study of Finnish doctors found that "Only very few, pediatricians somewhat more often, thought that Down’s syndrome is not a good enough reason for pregnancy termination, but more (15-21%) thought that current prenatal screenings in general are (partly) based on eugenic thinking."[32]

Down syndrome
physical education (APE), may promote enhanced development of gross motor skills in Downs Syndrome children.[36] Individuals with Down syndrome differ considerably in their language and communication skills. It is routine to screen for middle ear problems and hearing loss; low gain hearing aids or other amplification devices can be useful for language learning. Early communication intervention fosters linguistic skills. Language assessments can help profile strengths and weaknesses; for example, it is common for receptive language skills to exceed expressive skills. Individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy. Augmentative and alternative communication (AAC) methods, such as pointing, body language, objects, or graphics are often used to aid communication. Relatively little research has focused on the effectiveness of communications intervention strategies.[37] In education, mainstreaming of children with Down syndrome is becoming less controversial in many countries. For example, there is a presumption of mainstream in many parts of the UK. Mainstreaming is the process whereby students of differing abilities are placed in classes with their chronological peers. Children with Down syndrome may not age emotionally/socially and intellectually at the same rates as children without Down syndrome, so over time the intellectual and emotional gap between children with and without Down syndrome may widen. Complex thinking as required in sciences but also in history, the arts, and other subjects can often be beyond the abilities of some, or achieved much later than in other children. Therefore, children with Down syndrome may benefit from mainstreaming provided that some adjustments are made to the curriculum.[38] Some European countries such as Germany and Denmark advise a two-teacher system, whereby the second teacher takes over a group of children with disabilities within the class. A popular alternative is cooperation between special schools and mainstream schools. In cooperation, the core subjects are taught in separate classes, which neither slows down the typical students nor neglects the students with disabilities. Social activities, outings, and many sports and arts

Cognitive development
Cognitive development in children with Down syndrome is quite variable. It is not currently possible at birth to predict the capabilities of any individual reliably, nor are the number or appearance of physical features predictive of future ability. The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs.[33] Since children with Down syndrome have a wide range of abilities, success at school can vary greatly, which underlines the importance of evaluating children individually. The cognitive problems that are found among children with Down syndrome can also be found among typical children. Therefore, parents can use general programs that are offered through the schools or other means. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay, requiring speech therapy to improve expressive language.[34] Fine motor skills are delayed[35] and often lag behind gross motor skills and can interfere with cognitive development. Effects of the disorder on the development of gross motor skills are quite variable. Some children will begin walking at around 2 years of age, while others will not walk until age 4. Physical therapy, and/or participation in a program of adapted


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activities are performed together, as are all breaks and meals.[39]

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.[41] 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.[42]

The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process. The health aspects of Down syndrome encompass anticipating and preventing effects of the condition, recognizing complications of the disorder, managing individual symptoms, and assisting the individual and his/her family in coping and thriving with any related disability or illnesses.[3] Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy. The most common manifestations of Down syndrome are the characteristic facial features, cognitive impairment, congenital heart disease (typically a ventricular septal defect), hearing deficits (maybe due to sensory-neural factors, or chronic serous otitis media, also known as Glue-ear), short stature, thyroid disorders, and Alzheimer’s disease. Other less common serious illnesses include leukemia, immune deficiencies, and epilepsy. However, health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer[40] — although it is, as yet, unclear whether the reduced incidence of various fatal cancers among people with Down syndrome is as a direct result of tumorsuppressor genes on chromosome 21 (such as Ets2),[18] because of reduced exposure to environmental factors that contribute to cancer risk, or some other as-yet unspecified factor. In addition to a reduced risk of most kinds of cancer, people with Down syndrome also have a much lower risk of hardening of the arteries and diabetic retinopathy.[18]

Fertility amongst both males and females is reduced; males are usually unable to father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals. Approximately half of the offspring of someone with Down’s syndrome also have the syndrome themselves.[43] There have been only three recorded instances of males with Down syndrome fathering children.[44][45]

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 dysregulation 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..

Life expectancy
These factors can contribute to a shorter life expectancy for people with Down syndrome.


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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

Down syndrome
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[46] is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties.[47] Another gene, ETS2[48] 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."[48] Vitamin supplements, in particular supplemental antioxidants and folinic acid, have been shown to be ineffective in the treatment of Down syndrome.[49]

Sociological and cultural aspects
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,[50] 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.


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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."[51] In South Africa, Down Syndrome Awareness Day is held every October 20.[52] Organizations such as Special Olympics Hawaii provide year-round sports training for individuals with intellectual disabilities such as down syndrome.

Down syndrome
not been identified. Other theories focused on injuries sustained during birth.[55] 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.[56][57] 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.[58] 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.[59] 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."[60] 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.[61]

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.[53] Due to his perception that children with Down syndrome shared physical facial similarities (epicanthal folds) with those of Blumenbach’s Mongolian race, Down used the term mongoloid, derived from prevailing ethnic theory.[54] By the 20th century, Down syndrome 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 forced sterilization of individuals with Down syndrome and comparable degrees of disability. The ultimate expression of this type of public policy was "Action T4" in Nazi Germany, a program of systematic murder. Court challenges, scientific advances and public revulsion led to discontinuation or repeal of such sterilization 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

Notable individuals
• Stephane Ginnsz, actor (Duo)—In 1996 was first actor with Down syndrome in the lead part of a motion picture.[62] • Joey Moss, Edmonton Oilers locker room attendant.[63] • Isabella Pujols, adopted daughter of St. Louis Cardinals first baseman Albert Pujols and inspiration for the Pujols Family Foundation.[64] • Paula Sage, Scottish film actress and Special Olympics netball athlete.[65] Her role in the 2003 film AfterLife brought her a BAFTA Scotland award for best first time performance and Best Actress in the


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Down syndrome
• The Kingdom and its American counterpart, Kingdom Hospital • Stephen King: Dreamcatcher • Dean Koontz: The Bad Place • Jeffrey Eugenides: The Virgin Suicides • 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

See also
• Alternative therapies for developmental and learning disabilities Scottish award-winning film and TV actress Paula Sage receives her BAFTA award with Brian Cox. Bratislava International Film Festival, 2004.[66] 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 mocumentary 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.[67][68]

[1] Roizen NJ, Patterson D.Down’s syndrome. Lancet. 2003 12 April;361(9365):1281–9. Review. PMID 12699967 [2] "Definition of Brushfield’s Spots". art.asp?articlekey=6570. [3] ^ 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. [4] Strom, C. "FAQ from Mosaic Down Syndrome Society". faqs.htm. Retrieved on 2006-06-03. [5] 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 [6] "Down’s syndrome recreated in mice". BBC News. 2005-09-22. 4268226.stm. Retrieved on 2006-06-14.


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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


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[7] For a description of human karyotype see Mittleman, A. (editor) (1995). "An International System for Human Cytogenetic Nomeclature". Retrieved on 2006-06-04. [8] ^ "Down syndrome occurrence rates (NIH)". publications/pubs/ downsyndrome.cfm#TheOccurrence. Retrieved on 2006-06-02. [9] Mosaic Down syndrome on the Web [10] International Mosaic Down syndrome Association [11] 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 [12] Based on estimates by National Institute of Child Health & Human Development "Down syndrome rates". Archived from the original on 2006-09-01. 20060901004316/ pubs/downsyndrome/ down.htm#Questions. Retrieved on 2006-06-21. [13] 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. mmwrhtml/mm5451a2.htm. [14] 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 [15] Estimate from "National Down Syndrome Center". resources/package3.php. Retrieved on 2006-04-21. [16] "Prevalence and Incidence of Down Syndrome". Diseases Center-Down Syndrome. Adviware Pty Ltd.. 2008-02-04. down_syndrome/prevalence.htm.

Down syndrome
Retrieved on 2008-02-17. "incidence increases...especially when...the father is older than age 42" [17] Warner, Jennifer. "Dad’s Age Raises Down Syndrome Risk, Too", "WebMD Medical News". infertility-and-reproduction/news/ 20030701/dad-age-down-syndrome. Retrieved on 2007-09-29. [18] ^ ACOG Guidelines Bulletin #77 clearly state that the sensitivity of the Quad Test is 81% [19] 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 crossidentification and double-positive results". Prenatal Diagnosis 21 (1): 46–51. doi:10.1002/ 1097-0223(200101)21:1<46::AIDPD984>3.0.CO;2-C. PMID 11180240 [20] ACOG Guidelines Bulletin #77 state that the sensitivity of the Combined Test is 82-87% [21] NIH FASTER study (NEJM 2005 (353):2001). See also J.L. Simplson’s editorial (NEJM 2005 (353):19). [22] ACOG Guidelines Bulletin #77 state that the sensitivity of the Integrated Test is 94-96% [23] Fackler, A. "Down syndrome". baby/article/healthwise/hw167989. Retrieved on 2006-09-07. [24] 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::AIDPD637>3.0.CO;2-B. 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


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Down syndrome

language treatment for infants, toddlers, Genetics 93 (5): 410–416. doi:10.1002/ and children with Down syndrome". in 1096-8628(20000828)93:5<410::AIDHassold, T.J.and D. Patterson. Down AJMG12>3.0.CO;2-F. PMID 10951466 Syndrome: A Promising Future, [25] "Society ’more positive on Down’s’". BBC Together. New York: Wiley-Liss. News. 2008-11-24. [35] "Development of Fine Motor Skills in 1/hi/health/7746747.stm. Down Syndrome". http://www.about[26] Peter Horrocks (2008-12-05). "Changing". BBC News. down-syndrome.html. Retrieved on 2006-07-03. 2008/12/changing_attitudes.html. [36] M. Bruni. "Occupational Therapy and the [27] Glover, NM and Glover, SJ (1996). Child with Down Syndrome". "Ethical and legal issues regarding selective abortion of fetuses with Down Retrieved on 2006-06-02. syndrome". Ment. Retard. 34 (4): [37] Roberts JE, Price J, Malkin C (2007). 207–214. PMID 8828339. "Language and communication [28] Will, George (2005-04-01). "Eugenics By development in Down syndrome". Ment Abortion: Is perfection an entitlement?". Retard Dev Disabil Res Rev 13 (1): Washington Post: A37. 26–35. doi:10.1002/mrdd.20136. PMID 17326116. articles/A51671-2005Apr13.html. [38] S.E.Armstrong. "Inclusion: Educating [29] Letter: Ghost of eugenics stalks Down’s Students with Down Syndrome with babies | Independent, The (London) | Their Non-Disabled Peers". Find Articles at [30] New Eugenics and the newborn: The downsyndrome/ historical "cousinage" of eugenics and index.htm?page=ndssincl.html. infanticide, The | Ethics & Medicine | Retrieved on 2006-05-12. Also, see Find Articles at Debra L. Bosworth. "Benefits to Students [31] Erik Parens and Adrienne Asch (2003). with Down Syndrome in the Inclusion "Disability rights critique of prenatal Classroom: K-3". genetic testing: Reflections and recommendations". Mental Retardation downsyndrome/ and Developmental Disabilities Research index.htm?page=bosworth.html. Reviews 9 (1): 40–47. doi:10.1002/ Retrieved on 2006-06-12. Finally, see a mrdd.10056. survey by NDSS on inclusion, Gloria (1996). "The Educational bin/abstract/102531130/ABSTRACT. Challenges Inclusion Study". National Retrieved on 2006-07-03. PMID Down Syndrome Society. 12587137 [32] Finnish physicians’ opinions of Down’s downsyndrome/ syndrome screening index.htm?page=wolpert.html. Retrieved [33] "Dear New or Expectant Parents". on 2006-06-28. National Down Syndrome Society. [39] There are many such programs. One is described by Action index.php?option=com_content&task=view&id=2015&Itemid=198. Alliance for Children, K. Flores. "Special needs, Retrieved on 2006-05-12. Also "mainstream" classroom". "Research projects - Early intervention and education". 103spec.htm. Retrieved on 2006-05-13. topics/early-intervention/. Retrieved on Also, see Flores, K.. "Special needs, 2006-06-02. "mainstream" classroom". [34] Bird, G. and S. Thomas (2002). "Providing effective speech and language 103spec.pdf. Retrieved on 2006-05-13. therapy for children with Down [40] Yang Q, Rasmussen SA, Friedman JM. syndrome in mainstream settings: A case Mortality associated with Down’s example". Down Syndrome News and syndrome in the USA from 1983 to 1997: Update 2 (1): 30–31. Also, Kumin, Libby a population-based study. Lancet 2002 (1998). "Comprehensive speech and


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23 March;359(9311):1019–25. PMID 11937181 [41] Young, Emma (2002-03-22). "Down’s syndrome lifespan doubles". New Scientist. article.ns?id=dn2073. Retrieved on 2006-10-14. [42] 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 [43] 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. [44] 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. [45] 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. [46] Online ’Mendelian Inheritance in Man’ (OMIM) AMYLOID BETA A4 PRECURSOR PROTEIN; APP -104760, gene located at 21q21. Retrieved on 2006-12-05. [47] Shekhar, Chandra (2006-07-06). "Down syndrome traced to one gene". The Scientist. news/display/23869/. Retrieved on 2006-07-11. [48] ^ 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. [49] 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. [50] Inclusion. National Down Syndrome Society.

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index.php?option=com_content&task=view&id=194 Retrieved on 2006-05-21. [51] National Down Syndrome Society [52] Down Syndrome South Africa [53] Down, J.L.H. (1866). "Observations on an ethnic classification of idiots". Clinical Lecture Reports, London Hospital 3: 259–262. classics/down.html. Retrieved on 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)". values/history_DS.htm. Retrieved on 2006-06-02. [54] 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. [55] Warkany, J. (1971). Congenital Malformations. Chicago: Year Book Medical Publishers, Inc. pp. 313–314. ISBN 0-8151-9098-0. [56] 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. ark:/12148/bpt6k32002/ f1759.chemindefer. [57] "Jérôme Lejeune Foundation". Content/Fondation/professeurlj.asp. Retrieved on 2006-06-02. [58] Gordon, Allen; C.E. Benda, J.A. Böök, C.O. Carter, C.E. Ford, E.H.Y. Chu, E. Hanhart, George Jervis, W. LangdonDown, 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. [59] Howard-Jones, Norman (1979). "On the diagnostic term "Down’s disease"". Medical History 23 (1): 102–104. PMID 153994. [60] 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.


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Down syndrome

doi:10.1016/S0140-6736(74)92858-X. • Epstein CJ (June 2006). "Down’s PMID 4132724. The conference was syndrome: critical genes in a critical held 10 February-11 February 1975, and region". Nature 441 (7093): 582–3. reported to The Lancet shortly doi:10.1038/441582a. PMID 16738647. afterward."Classification and • Ganong, W.J. (2005). Review of Medical nomenclature of morphological defects Physiology (21st ed.). New York: Mc-Graw (Discussion)". The Lancet 305 (7905): Hill. ISBN 0071402365. 513. 1975. doi:10.1016/ • Nelson DL, Gibbs RA (2004). "Genetics. S0140-6736(75)92847-0. PMID 46972. The critical region in trisomy 21". Science [61] Leshin, Len (2003). "What’s in a name". (journal) 306 (5696): 619–21. doi:10.1126/ science.1105226. PMID 15499000. Retrieved on 2006-05-12. • Olson LE, Richtsmeier JT, Leszl J, Reeves [62] Stephane Ginnsz. "Film Actor with Down RH (2004). "A chromosome 21 critical Syndrome". region does not cause specific Down syndrome phenotypes". Science (journal) Retrieved on 2006-12-08. 306 (5696): 687–90. doi:10.1126/ [63] Lomon, Chris (2003-02-28). "NHL Alumni science.1098992. PMID 15499018. RBC All-Star Awards Dinner". NHL • Hattori M, Fujiyama A, Taylor TD, et al Alumni. (2000). "The DNA sequence of human hockey/nhlalumni/news/03/0228.html. chromosome 21". Nature 405 (6784): Retrieved on 2006-12-08. 311–9. doi:10.1038/35012518. PMID [64] "Pujols Family Foundation Home Page". 10830953. • Underwood, J.C.E. (2004). General and index2.html. Retrieved on 2006-12-08. Systematic Pathology (4th ed.). [65] "Special Olympic Athlete Stars in Movie". Edinburgh: Churchill Livingstone. ISBN 0443073341. Special+Olympics+Public+Website/ English/Press_Room/ General bibliography Global_News_Archive/ • Beck, M.N. (1999). Expecting Adam. New 2004+Global+News+Archive/ York: Berkley Books. Special+Olympics+athlete+stars+in+movie.htm. • Buckley, S. (2000). Living with Down Retrieved on 2007-11-05. Syndrome. Portsmouth, UK: The Down [66] "Bratislava International Film festival Syndrome Educational Trust. ISBN 2004". 1903806011. Awards/ books?id=__5wB08U2hMC. Bratislava_International_Film_Festival/ • Down Syndrome Research Foundation 2004. Retrieved on 2007-11-05. (2005). Bright Beginnings: A Guide for [67] "Up Syndrome on the Internet Movie New Parents. Buckinghamshire, UK: Down Database". Syndrome Research Foundation. tt0261375/. Retrieved on 2009-04-19. [68] "Friends on Both Sides of Film". Bright_beginnings.htm. • Dykens EM (2007). "Psychiatric and today/ricardob/24440.html. Retrieved on behavioral disorders in persons with Down 2001-04-27. from the Corpus-Christi syndrome". Ment Retard Dev Disabil Res Caller Times Rev 13 (3): 272–8. doi:10.1002/

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.

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


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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.

Down syndrome
• Zuckoff, M. (2002). Choosing Naia: A Family’s Journey. New York: Beacon Press. ISBN 0807028177.

External links
• Down syndrome complications, frequent symptoms and details • Facts about Down Syndrome from the National Institutes of Health

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