Down syndrome or Down's syndrome, also known as trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome.[1] It is named after John Langdon Down, the British physician who described the syndrome in 1866.[2] The condition was clinically described earlier in the 19th century by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844.[3] Down syndrome was identified as a chromosome 21 trisomy by Dr. Jérôme Lejeune in 1959. Down syndrome can be identified in a baby at birth, or by prenatal screening.[4][1]
The incidence of Down syndrome is estimated at 4.6 per 10,000 births.[1] Down syndrome occurs in all human populations, and analogous conditions have been found in other species such as chimpanzees.[5]
Often Down syndrome is associated with a delay in cognitive ability and physical growth, and a particular set of facial characteristics.[1] The average IQ of young adults with Down syndrome is around 50, compared to normal children with an IQ of 100.[1][6] A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.[1]
Many children with Down syndrome who have received family support, enrichment therapies and tutoring manage to graduate from high school and are able to do paid work,[7] and some participate in post-secondary education as well.[8] 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. Education and proper care will improve quality of life significantly, despite genetic limitations.[9]
Feet of a boy with Down Syndrome
The signs and symptoms of Down syndrome are characterized by the neotenization of the brain and body to the fetal state.[10] Down syndrome is characterized by decelerated maturation (neoteny), incomplete morphogenesis (vestigia) and atavisms.[11] Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (abnormally small chin),[12] oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a mongoloid fold),[13][14] 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) or macroglossia,[13][14] "face is flat and broad",[15] a short neck, white spots on the iris known as Brushfield spots,[16] excessive joint laxity including atlanto-axial instability, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, a higher number of ulnar loop dermatoglyphs and short fingers.[14]
Growth parameters such as height, weight, and head circumference are smaller in children with DS than with typical individuals of the same age. Adults with DS tend to have short stature and bowed legs[14]—the average height for men is 5 feet 1 inch (154 cm) and for women is 4 feet 9 inches (144 cm).[17] Individuals with DS are also at increased risk for obesity as they age.[18]
Individuals with Down syndrome have a higher risk for many conditions. 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. These health factors can contribute to a shorter life expectancy for people with Down syndrome, in recent decades, the life expectancy among persons with Down syndrome has increased significantly up from 12 years in 1912, to 60 years.[20] In March 2012 the Guinness Book of Records website listed Joyce Greenman, now 87, of London, who was born on March 14, 1925, as the oldest living person with Down syndrome, (recorded correct and checked as of 29/04/08). The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages. Most people with Down syndrome who live into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia.[21]
Most individuals with Down syndrome have intellectual disability in the mild (IQ 50–70) to moderate (IQ 35–50) range,[22] with individuals having Mosaic Down syndrome typically 10–30 points higher.[23] The use of IQ tests for individuals with Down syndrome has been criticised on the grounds that the educator's low expectations and the fact that IQ tests do not take into account accompanying physical disabilities, such as hearing and vision impairment that would slow the test-taking performance.[24]
Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay.[25] Fine motor skills are delayed[26] and often lag behind gross motor skills and can interfere with cognitive development. Effects of the condition 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 physical education (APE), may promote enhanced development of gross motor skills in Down syndrome children.[27]
The incidence of congenital heart disease in newborn babies with Down syndrome is up to 50%.[28] An atrioventricular septal defect also known as endocardial cushion defect is the most common form with up to 40% of patients affected. This is closely followed by ventricular septal defect that affects approximately 35% of patients.[28]
Allthough the general incidence of cancer amoungst individuals with Down syndrom is the same as the general population,[29]there are greatly reduced incidence of many common malignancies except leukemia and testicular cancer[30]People with Down syndrome also have a much lower risk of hardening of the arteries and diabetic retinopathy.[31]
Hematologic malignancies such as leukemia are more common in children with DS.[32] In particular, the risk for acute lymphoblastic leukemiais at least 10 times more common in DS and for the megakaryoblastic form of acute myelogenous leukemia is at least 50 times more common in DS. Transient leukemia is a form of leukemia that is rare in individuals without DS but affects up to 20 percent of newborns with DS.[33] This form of leukemia is typically benign and resolves on its own over several months, though it can lead to other serious illnesses.[34] In contrast to hematologic malignancies, solid tumor malignancies are less common in DS, possibly due to increased numbers of tumor suppressor genes contained in the extra genetic material.[35]
Individuals with DS are at increased risk for dysfunction of the thyroid gland, an organ that helps control metabolism. Low thyroid (hypothyroidism) is most common, occurring in almost a third of those with DS. This can be due to absence of the thyroid at birth (congenital hypothyroidism) or due to attack on the thyroid by the immune system.[36]
Down syndrome increases the risk of Hirschsprung's disease, in which the nerve cells that control the function of parts of the colon are not present.[37] This results in severe constipation. Other congenital anomalies occurring more frequently in DS include duodenal atresia, annular pancreas, and imperforate anus.Gastroesophageal reflux disease and celiac disease are also more common among people with DS.[38]
Males with Down syndrome are usually unable to father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[39] Women with DS are less fertile and often have difficulties with miscarriage, premature birth, and difficult labor. Without preimplantation genetic diagnosis, approximately half of the offspring of someone with Down syndrome also have the syndrome themselves.[39] Men with DS are almost uniformly infertile, exhibiting defects in spermatogenesis.[40] There have been only three recorded instances of males with Down syndrome fathering children.[41][42]
Children and adults with DS are at increased risk for developing epilepsy.[43][44] The risk for Alzheimer's disease is increased in individuals with DS, with 10–25% of individuals with DS showing signs of AD before age 50, up to 50% with clinical symptoms in the sixth decade, and up to 75% in the 7th decade. This sharp increase in the incidence and prevalence of dementia may be one of the factors driving the decreased life expectancy of persons with Down syndrome.
Brushfield spots, visible in the irises of a baby with Down Syndrome.
Eye disorders are more common in people with DS. Almost half have strabismus, in which the two eyes do not move in tandem. Refractive errors requiring glasses or contacts are also common. Cataracts (opacity of the lens), keratoconus (thin, cone-shaped corneas), and glaucoma (increased eye pressures) are also more common in DS.[45] Brushfield spots (small white or grayish/brown spots on the periphery of the iris) may be present.
In general there hearing impairment and otological problems are still found in 38-90% of children with Down syndrome compared to 2.5% for normal children.[46][47][48] However, attentive diagnosis and aggressive treatment of chronic ear disease (e.g. otitis media, also known as glue-ear) in children with Down syndrome, can bring approximately 98% of the children up to normal hearing levels.[49]
The elevated occurrence of hearing loss for individuals with Down is not surprising. Every component in the auditory system is potentially adversely affected by Down syndrome.[48]
Otitis media with effusion is the most common cause of hearing loss in Down children,[47] the infections start at birth and continue throughout the children’s lives.[50] The ear infections are mainly associated with Eustachian tube dysfunction due to alterations in the skull base. However, excessive accumulation of wax can also cause obstruction of the outer ear canal as it is often narrowed in children with Down syndrome.[51] Middle ear problems account for 83% of hearing loss in children with Down syndrome.[51] The degree of hearing loss varies but even a mild degree can have major consequences on speech perception, language acquisition, development and academic achievement[50] if not detected in time and corrected.[47]
Early intervention to treat the hearing loss and adapted education is useful to facilitate the development of children with Down syndrome, especially during the preschool period. For adults, social independence depends largely on the ability to complete tasks without assistance, the willingness to separate emotionally from parents and access to personal recreational activities.[46] Given this background it is always important to rule out hearing loss as a contributing factor in social and mental deterioration.[48]
Instability of the atlanto-axial joint occurs in approximately 15% of people with DS, probably due to ligamental laxity. It may lead to the neurologic symptoms of spinal cord compression.[52] Periodic screening, with cervical x-rays, is recommended to identify this condition.
Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21
Down syndrome disorders are based on having too many copies of the genes located on chromosome 21. In general, this leads to an overexpression of the genes.[53][54] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes.[55] Recent research has identified a region of the chromosome that contains the main genes responsible for the pathogenesis of Down syndrome,[56] located proximal to 21q22.3. The search for major genes involved in Down syndrome characteristics is normally in the region 21q21–21q22.3.[citation needed]
Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes).[57] 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.[58]
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.[59] The actual Down syndrome "critical region" encompasses chromosome bands 21q22.1-q22.3.[60]
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).[61][62] 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.[59]
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,der(14;21)(q10;q10)]. 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.[59] It does not show the maternal age effect, and is just as likely to have come from fathers as mothers.[citation needed]
Ultrasound of fetus with Down syndrome and
megacystis
The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down syndrome for particular diseases.[63] 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) can be offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. In the United States, 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 over 34 years old or if she has received a high-risk score from a non-invasive screening test.[citation needed]
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.[64]
The risks of miscarriage for CVS and amniocentesis have been quoted as 1% and 0.5% respectively.[citation needed] 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. Each screen has a chance of a false positive error, suggesting a fetus with Down syndrome when, the fetus does not have this condition. Screen positives must be verified before a Down syndrome diagnosis is made.[citation needed] Common screening procedures for Down syndrome are given in Table 1.
Table 1: First and second trimester Down syndrome screens
| Screen |
When performed (weeks gestation) |
Detection rate |
False positive rate |
Description |
| Quad screen |
15–20 |
81%[31] |
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).[65] |
| Nuchal translucency/free beta/PAPPA screen (aka "1st Trimester Combined Test") |
10–13.5 |
85%[66] |
5% |
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.[67] Performing an NT ultrasound requires considerable skill; a Combined test may be less accurate if there is operator error, resulting in a lower-than-advertised sensitivity and higher false-positive rate, possibly in the 5–10% range. |
| Integrated test |
10-13.5 and 15–20 |
95%[68] |
5% |
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 real-world false-positive rate is >5% and may be closer to 7.5%. |
Enlarged NT and absent nasal bone in fetus at 11 weeks with trisomy 21
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.
A non-invasive prenatal test, MaterniT21, detected Down syndrome based on fetal DNA in a sample of the mother's blood in 209 of 212 cases (98.6%).[69][70] The International Society for Prenatal Diagnosis finds that this is an advanced screening test which may be of use, in conjunction with genetic counseling, in high-risk cases based upon existing screening strategies. While effective in the diagnosis of Down syndrome, it cannot assess other conditions which can be detected by invasive testing.[71]
A 2002 literature review of elective abortion rates found that 91–93% of pregnancies in the United Kingdom and Europe with a diagnosis of Down syndrome were terminated.[72] 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%.[73][74]
In the United States a number of studies have examined the abortion rate of fetuses with Down syndrome. Three studies estimated the termination rates at 95%, 98%, and 87% respectively.[72]
Medical ethicist Ronald Green argues that parents have an obligation to avoid 'genetic harm' to their offspring,[75] and Claire Rayner, then a patron of the Down's Syndrome Association, defended testing and abortion saying "The hard facts are that it is costly in terms of human effort, compassion, energy, and finite resources such as money, to care for individuals with handicaps... People who are not yet parents should ask themselves if they have the right to inflict such burdens on others, however willing they are themselves to take their share of the burden in the beginning."[76]
Some physicians and ethicists are concerned about the ethical ramifications of the high abortion rate for this condition.[77] Conservative commentator and father of a son with Down syndrome George Will called it "eugenics by abortion".[78][79] 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".[80] Doctor David Mortimer has argued in Ethics & Medicine that "Down's syndrome infants have long been disparaged by some doctors and government bean counters."[81] 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."[82] Peter Singer argued that "neither haemophilia nor Down's syndrome is so crippling as to make life not worth living from the inner perspective of the person with the condition. To abort a fetus with one of these disabilities, intending to have another child who will not be disabled, is to treat fetuses as interchangeable or replaceable. If the mother has previously decided to have a certain number of children, say two, then what she is doing, in effect, is rejecting one potential child in favour of another. She could, in defence of her actions, say: the loss of life of the aborted fetus is outweighed by the gain of a better life for the normal child who will be conceived only if the disabled one dies."[83]
Treatment of individuals with Down syndrome depends on the particular manifestations of the condition. 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. Alternative therapies can also be popular.
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.[84] Plastic surgery on children with Down syndrome is uncommon,[85] 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...."[86] 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.[87] 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."[88] The U.S. National Down Syndrome Society has issued a "Position Statement on Cosmetic Surgery for Children with Down Syndrome",[89] which states "The goal of inclusion and acceptance is mutual respect based on who we are as individuals, not how we look."
The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs.[90] 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. 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 other children. Therefore, parents can use general programs that are offered through the schools or other means.
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.[91]
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.[92]
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 activities are performed together, as are all breaks and meals.[93]
Speech delay may require speech therapy to improve expressive language.[25]
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.[94] 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).[95] Approximately 95% of these are trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes.[citation needed]
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.[96] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35,[97] reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42,[98] also increases the risk of Down syndrome manifesting.[99]
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.[100] 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;[15] while the term "mongoloid" (also "mongol" or "mongoloid idiot") continued to be used until the early 1970s, it is now considered to be pejorative (as well as inaccurate) and is no longer in common use.[101]
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. "Action T4" in Nazi Germany made public policy of 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.[citation needed]
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 that had not been identified. Other theories focused on injuries sustained during birth.[102]
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.[103][104] The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21.[citation needed]
In 1961, 18 geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had "misleading connotations," had become "an embarrassing term," and should be changed.[105] 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.[101] Advocacy groups adapted and parents groups welcomed the elimination of the Mongoloid label that had been a burden to their children. The first parents group in the United States, the Mongoloid Development Council, changed its name to the National Association for Down Syndrome in 1972.[106]
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 condition."[107] Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the U.S., Canada and other countries; Down's syndrome is still used in the UK and other areas.[108]
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 that are accessible and supportive to people with Down syndrome. In most developed countries, since the early 20th 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, educators and other professionals have generally advocated a policy of inclusion,[109] bringing people with any form of mental or physical disability into general society as much as possible. Such organizations included the National Association for Down Syndrome, the first known organization advocating for Down syndrome individuals in the United States founded by Kathryn McGee in 1960;[110] MENCAP advocating for all with mental disabilities, which was founded in the UK in 1946 by Judy Fryd;[111] and the National Down Syndrome Congress, the first truly national organization in the U.S. advocating for Down syndrome families, founded in 1973 by Kathryn McGee and others.[112] 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 (WDSD) 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 (February 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."[113] In South Africa, Down Syndrome Awareness Day is held every October 20.[114]
Organizations such as Special Olympics Hawaii provide year-round sports training for individuals with intellectual disabilities such as Down syndrome.
- Andrea Friedman: actress who portrayed Corky's girlfriend Amanda in Life Goes On and Ellen in the Family Guy episode "Extra Large Medium".[115]
- Stephane Ginnsz, actor (Duo)—In 1996 was first actor with Down syndrome in the lead part of a motion picture.[116]
- 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.[117][118]
- Joey Moss, Edmonton Oilers locker room attendant.[119]
- Pablo Pineda, Spanish actor who starred in the semi-autobiographical film Yo También and first student with Down syndrome in Europe to obtain a university degree.[120]
- Isabella Pujols, adopted daughter of Los Angeles Angels first baseman Albert Pujols and inspiration for the Pujols Family Foundation.[121]
- Paula Sage, Scottish film actress and Special Olympics netball athlete.[122] 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.[123]
- Judith Scott, (May 1, 1943 – March 15, 2005) was a highly regarded American outsider sculptor and fiber artist, whose work features in a number of galleries.[124]
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- ^ See Leshin, L. (2003). "Trisomy 21: The Story of Down Syndrome". http://www.ds-health.com/trisomy.htm. Retrieved 2006-05-21.
- ^ Zohra Rahmani, Jean-Louis Blouin, Nicole Créau-Goldberg, Paul C. Watkins, Jean-François Mattei, Marc Poissonnier, Marguerite Prieur, Zoubida Chettouh, Annie Nicole, Alain Aurias, Pierre-Marie Sinet, Jean-Maurice Delabar (2005). "Down syndrome critical region around D21S55 on proximal 21q22.3". American Journal of Medical Genetics 37 (S7): 98–103. DOI:10.1002/ajmg.1320370720. PMID 2149984. http://www3.interscience.wiley.com/cgi-bin/abstract/110515872/ABSTRACT?CRETRY=1&SRETRY=0.
- ^ "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.
- ^ 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.
- ^ a b c "Down syndrome occurrence rates (NIH)". http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm#TheOccurrence. Retrieved 2006-06-02.
- ^ "Genetics of Down Syndrome". http://emedicine.medscape.com/article/943216-overview. Retrieved 2011-05-29.
- ^ Mosaic Down syndrome on the Web.
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- ^ American Academy of Pediatrics Committee on Genetics. (2001) Health Supervision for Children With Down Syndrome. Pediatrics 107(2):442–49. Online at Health Supervision for Children With Down Syndrome. Retrieved 13 August 2006.
- ^ Fackler, A. "Down syndrome". Archived from the original on 2007-09-11. http://web.archive.org/web/20070911123204/http://health.yahoo.com/topic/children/baby/article/healthwise/hw167989. Retrieved 2006-09-07.
- ^ For a current estimate of rates, see Benn, PA; Ying, J; Beazoglou, T; Egan, JF (January 2001). "Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results". Prenat. Diagn. 21 (1): 46–51. DOI:10.1002/1097-0223(200101)21:1<46::AID-PD984>3.0.CO;2-C. PMID 11180240.
- ^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Combined Test is 82-87%
- ^ NIH FASTER study (NEJM 2005 (353):2001). See also JL Simpson's editorial (NEJM 2005 (353):19).
- ^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Integrated Test is 94–96%
- ^ Grody, WW; Canick, JE; Lambert-Messerlian, GM; Haddow, JE; Neveux, LM; Ehrich, M; Van Den Boom, D; Bombard, AT et al. (October 14, 2011 (Epub ahead of print)) "DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study" Genetics in Medicine 13 (11): 913–20 DOI:10.1097/GIM.0b013e3182368a0e PMID 22005709 http://journals.lww.com/geneticsinmedicine/Documents/GIM200954_Palomaki.pdf
- ^ Moisse, Katie. "Safer Down Syndrome Test Hits Market Monday". ABC News. http://abcnews.go.com/blogs/health/2011/10/18/safer-down-syndrome-test-to-hit-market-monday/.
- ^ Committee: Peter Benn, Antoni Borrell, Howard Cuckle, Lorraine Dugoff, Susan Gross, Jo-Ann Johnson, Ron Maymon, Anthony Odibo, Peter Schielen, Kevin Spencer, Dave Wright and Yuval Yaron (October 24, 2011). "Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis" (pdf). ISPD rapid response statement (Charlottesville, VA: International Society for Prenatal Diagnosis). http://www.ispdhome.org/public/news/2011/ISPD_RapidResponse_MPS_24Oct11.pdf. Retrieved October 25, 2011
- ^ a b 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): 808–12. DOI:10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B. PMID 10521836. http://www3.interscience.wiley.com/cgi-bin/abstract/65500197/ABSTRACT. This is similar to 90% results found by Britt, David W; Risinger, Samantha T; Miller, Virginia; Mans, Mary K; Krivchenia, Eric L; Evans, Mark I (1999). "Determinants of parental decisions after the prenatal diagnosis of Down syndrome: Bringing in context". American Journal of Medical Genetics 93 (5): 410–16. DOI:10.1002/1096-8628(20000828)93:5<410::AID-AJMG12>3.0.CO;2-F. PMID 10951466.
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- ^ Klaiman, P and Arndt, E (1989). "Facial reconstruction in Down syndrome: perceptions of the results by parents and normal adolescents". Cleft Palate Journal 26 (3): 186–90; discussion 190–92. PMID 2527096. Also, see Arndt EM, Lefebvre, A; Travis, F; Munro, IR (1986). "Fact and fantasy: psychosocial consequences of facial surgery in 24 Down syndrome children". Br J Plast Surg 39 (4): 498–504. DOI:10.1016/0007-1226(86)90120-7. PMID 2946342.
- ^ SA Pensler; Pensler, JM (1990). "The efficacy of tongue resection in treatment of symptomatic macroglossia in the child". Ann Plast Surg 25 (1): 14–17. DOI:10.1097/00000637-199007000-00003. PMID 2143060. See also Van Lierde KM, Vermeersch H, Van Borsel J, Van Cauwenberge P (2002/2003). "The impact of a partial glossectomy on articulation and speech intelligibility". Oto-Rhino-Laryngologia Nova 12 (6): 305–10. DOI:10.1159/000083122.
- ^ Leshin, L (2000). "Plastic Surgery in Children with Down Syndrome". http://www.ds-health.com/psurg.htm. Retrieved 2006-07-25.
- ^ National Down Syndrome Society. "Position Statement on Cosmetic Surgery for Children with Down Syndrome". Archived from the original on 2006-09-06. http://web.archive.org/web/20060906164622/http://www.ndss.org/content.cfm?fuseaction=InfoRes.HlthArticle&article=34. Retrieved 2006-06-02.
- ^ "Dear New or Expectant Parents". National Down Syndrome Society. Archived from the original on 2008-06-24. http://web.archive.org/web/20080624045341/http://www1.ndss.org/index.php?option=com_content&task=view&id=2015&Itemid=198. Retrieved 2006-05-12. Also "Research projects—Early intervention and education". Archived from the original on 2008-06-25. http://web.archive.org/web/20080625023957/http://www.downsed.org/topics/early-intervention/. Retrieved 2006-06-02.
- ^ 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.
- ^ Armstrong SE. "Inclusion: Educating Students with Down Syndrome with Their Non-Disabled Peers". Archived from the original on 2008-04-20. http://web.archive.org/web/20080420100218/http://www.altonweb.com/cs/downsyndrome/index.htm?page=ndssincl.html. Retrieved 2006-05-12. Also, see Bosworth Debra L. "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. [dead link] Finally, see a survey by NDSS on inclusion, Wolpert Gloria (1996). "The Educational Challenges Inclusion Study". National Down Syndrome Society. Archived from the original on 2008-04-20. http://web.archive.org/web/20080420100223/http://www.altonweb.com/cs/downsyndrome/index.htm?page=wolpert.html. Retrieved 2006-06-28.
- ^ There are many such programs. One is described by Action Alliance for Children, Flores K. "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.
- ^ 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/downsyndrome/down.htm#Questions. Retrieved 2006-06-21.
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- ^ Estimate from "National Down Syndrome Center". http://www.ndsccenter.org/resources/package3.php. Retrieved 2006-04-21.
- ^ "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"
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- ^ 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 10–11 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.
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- ^ NADS Honors our Founder: Kay McGee
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