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Downs syndrom
A boy with Down syndrome using cordless drill to assemble a book case.jpg
En pojke med Downs syndrom sätter ihop en bokhylla.
Klassifikation och externa resurser
ICD-10Q90
ICD-9758.0
OMIM190685
DiseasesDB3898
Medlineplus000997
eMedicineped/615 
MeSHsvensk engelsk

Downs syndrom, latin Morbus Down, är ett syndrom som beror på en kromosomrubbning. En person med Downs syndrom har tre exemplar av kromosom nr 21 istället för det normala två, så kallad Trisomi-21 (alternativt delar av den extra kromosomen). Det leder till en utvecklingsstörning som kan variera från mycket lindrig till grav. Downs syndrom är namngett efter John Langdon Down, den brittiske doktorn som år 1866 blev den första att beskriva utvecklingsstörningen. Upptäckten att det hela berodde på en extra kromosom nr 21 gjordes av Jérôme Lejeune år 1959. Tillståndet karakteriseras av en kombination av större och mindre avvikelser hos personen. Downs syndrome hänger ofta samman med vissa begränsningar av de kognitiva förmågorna och den fysiska tillväxten, samt en speciell uppsättning med karakteristiska ansiktsdrag. Det går att upptäcka Downs syndrom hos ett foster genom ett så kallat fostervattenprov under graviditeten.

Personer med Downs syndrom har vanligtvis en kognitiv förmåga som är lägre än genomsnittet och har ofta en utvecklingsstörning som spänner från mild till måttlig. Ett litet antal av personerna har ett svårt till omfattande mentalt handikapp. Incidensen att ett barn skall födas med Downs syndrom är 1 per 800-1 000, även om det statistiskt sett är mycket vanligare om modern är äldre. Andra faktorer kan också spela roll.

Många av de vanliga fysiska särdragen hos personer med Downs syndrom kan även uppkomma hos personer med en normal uppsättning av kromosomer. För att särskilja detta används Halls kriterier som består av 20 kännetecken. Om barnet har 12 av dessa är diagnosen klar.[1] Några av kännetecknen inkluderar en onormalt liten haka,[2] ett ovanligt runt ansikte, en utskjutande eller förstorad tunga,[3] mandelformade ögon på grund av ett mongolveck på ögonlocket, kortare lemmar och små händer som har en enda fåra i handflatan (som sträcker sig över handflatan), lågt sittande öron, muskelsvaghet och ett avstånd mellan stortån och den andra tån som är större än vad som är vanligt. Personer med Downs syndrom har en ökad benägenhet att få problem med hjärtat, gastroesofageal refluxsjukdom, återkommande infektioner i örat, obstruktiv sömnapné samt problem med sköldkörteln.

upslanting palpebral fissures (the separation between the upper and lower eyelids),

Att tidigt stödja familjerna, undersöka barnen efter vanliga problem, behandla dessa medicinskt när de upptäcks, en befrämjande familjemiljö, och deltagande i yrkesskolor kan förbättra den allmänna utvecklingen för barn med Downs syndrom. Även om vissa av de genetiska begränsningarna som följer Downs syndrom inte kan överkommas kan utbildning och en god omvårdnad förbättra livskvalitén.[4]

Utmärkande drag

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Huvudartikel: Health aspects of Down syndrome

Personer mer Downs syndrom kan ha alla, eller vissa av följande fysiologiska kännetecken: en onormalt liten haka;[2] sneda ögonfissurer med mongolveck vid sidan på ögat.[3] muskelhyptoni (dålig tonus); en platt näsrygg; en enda fåra i handflatan (som sträcker sig över handflatan);

a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) or macroglossia[3], a short neck, white spots on the iris known as Brushfield spots,[5] 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,[6] with individuals having Mosaic Down syndrome typically 10–30 points higher.[7] 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.

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.[6]

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[8] — 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 tumor-suppressor genes on chromosome 21,[9] 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.[10]

Cognitive development

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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.[11] 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.[12] Fine motor skills are delayed[13] 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 physical education (APE), may promote enhanced development of gross motor skills in Down syndrome children.[14]

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.[15]

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.[16]

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.[17]

Fertility

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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.[källa behövs] Approximately half of the offspring of someone with Down syndrome also have the syndrome themselves.[18] There have been only three recorded instances of males with Down syndrome fathering children.[19][20]

Genetics

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Huvudartikel: Genetic origins 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[21] and mice. Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes).[22] 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.[23]

Trisomy 21

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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.[24]

Mosaicism

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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).[25][26] 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.[24]

Robertsonian translocation

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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.[24] 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

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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)).[27] 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

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Ultrasound of fetus with Down syndrome and megacystis

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. 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 >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.

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%[10] 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).[28]
Nuchal translucency/free beta/PAPPA screen (aka "1st Trimester Combined Test") 10–13.5 85%[29] 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.[30] 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%[31] 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 maybe be closer to 7.5%.

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.[32]

Ethical issues

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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.[33] 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%.[34][35] Some physicians and ethicists are concerned about the ethical ramifications of this.[36] Conservative commentator George Will called it "eugenics by abortion".[37] 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".[38] Doctor David Mortimer has argued in Ethics & Medicine that "Down's syndrome infants have long been disparaged by some doctors and government bean counters."[39] 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."[40]

Medical ethicist Ronald Green argues that parents have an obligation to avoid 'genetic harm' to their offspring,[41] 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."[42] 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."[43]

Management

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Treatment of individuals with Down Syndrome depends on the particular manifestations of the disorder. 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

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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.[44] Plastic surgery on children with Down syndrome is uncommon,[45] 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...."[46] 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.[47] 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."[48] The National Down Syndrome Society has issued a "Position Statement on Cosmetic Surgery for Children with Down Syndrome"[49] 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

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Se även: 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,[50] and is considered alternative medicine.

Prognosis

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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.[51] 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.[52]

Epidemiology

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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.[53] 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).[54] 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.[55] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35,[56] reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42,[57] also increases the risk of Down Syndrome manifesting in pregnancies in older mothers.[58]

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.

Historik

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Den engelska läkaren John Langdon Down var den första att karakterisera Downs syndrom som en särskild form av mentalt handikapp år 1862, och i en mer allmänt spridd rapport år 1866.[59] På grund av hans insikt om att barn med Downs syndrom delade visa fysiska likheter med de personer som enligt Johann Friedrich Blumenbach klassificerat som rasen mongolider. Down använde därför termen mongolid, som utgick från den rådande rasteorien.[60]

Vid 1900-talet hade Downs syndrom blivit det mest erkända formen av mentalt handikapp och den största andelen av personer med Downs syndrom blev institutionaliserade. Få av de medföljande medicinska problemen behandlades dock och de flesta dog som spädbarn eller som unga vuxna. Vid uppkomsten av rashygienrörelsen påbörjade ett flertal länder och 33 av de då existerande 48 amerikanska delstaterna tvångssterilisering av personer med Downs syndrom och liknande grader av handikapp. I Nazityskland togs det hela till dess spets genom det socialpolitiska programmet "Aktion T4", inom vilket de handikappade systematiskt mördades. Årtiondena efter andra världskriget började allt fler aktivt bestrida tvångssteriliseringen i domstolar. Detta tillsammans med de vetenskapliga framstegen som gjorts och allmänhetens avståndstagande ledde till att tvångssteriliseringsprogrammen avslutades.

Fram till mitten av 1900-talet var orsaken till Downs syndrom okänt. Insikter hade dock bland annat nåtts om att Downs syndrom fanns hos alla raser av människor, att det fanns ett samband med hög ålder hos modern. I den medicinska litteraturen ansågs sjukdomen bero på en kombination av ärftliga faktorer som ännu inte hade identifierats. Andra teorier fokuserade på skador som barnet ådragit vid födseln.[61]

Genom upptäckten av karyotyptekniken under 1950-talet blev det möjligt att identifiera abnormaliteter i antalet kromosomer eller i dess form. År 1959 upptäckte Jérôme Lejeune att Downs syndrome berodde på en extra kromosom.[62] [63] Kromosomen numrerades därför som den 21:a och åkomman som trisomi 21.

År 1961 skrev arton stycken genetiker till redaktören för The Lancet och föreslog att termen mongolid skulle ändras då namnet gav felaktiga associationer, var pinsam och borde ändras.[64] The Lancet stödde idén med Downs syndrom och World Health Organization (WHO) slutade officiellt att använda termen år 1965 efter en begäran från den mongoliska delegaten.[65]

År 1975

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."[66] 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.[67]

Society and culture

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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,[68] 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."[69] In South Africa, Down Syndrome Awareness Day is held every October 20.[70] Organizations such as Special Olympics Hawaii provide year-round sports training for individuals with intellectual disabilities such as down syndrome.

Portrayal in fiction

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Research

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Huvudartikel: 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[71] is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties.[72] Another gene, ETS2[73] 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."[73]

Vitamin supplements, in particular supplemental antioxidants and folinic acid, have been shown to be ineffective in the treatment of Down syndrome.[74]

Footnotes

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  1. ^ Ann Hedberg & Margareta Wallin (12 januari 2009). ”Vad är Downs syndrom?”. Infoteket om funktionshinder. http://www.lul.se/templates/page____7180.aspx. Läst 22 februari 2010. Okänd parameter medförfattare
  2. ^ [a b] Meira Weiss. ”Conditional love: parents' attitudes toward handicapped children”. Conditional love: parents' attitudes toward handicapped children. 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. Läst 22 juli 2009. 
  3. ^ [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)”. Facial Plastic Surgery in Children with Down's Syndrome (preview page, with link to full content on plasreconsurg.com). 343. http://scholar.google.com/scholar?q=info:Nt6asksVAiYJ:scholar.google.com/&hl=en&output=viewport. Läst 22 juli 2009. 
  4. ^ Roizen NJ, Patterson D (April 2003). ”Down's syndrome” (Review). Lancet 361 (9365): sid. 1281–9. doi:10.1016/S0140-6736(03)12987-X. PMID 12699967. 
  5. ^ ”Definition of Brushfield's Spots”. Definition of Brushfield's Spots. http://www.medterms.com/script/main/art.asp?articlekey=6570. 
  6. ^ [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): sid. 442–449. doi:10.1542/peds.107.2.442. PMID 11158488. 
  7. ^ Strom, C. ”FAQ from Mosaic Down Syndrome Society”. FAQ from Mosaic Down Syndrome Society. http://www.mosaicdownsyndrome.com/faqs.htm. Läst 3 juni 2006. 
  8. ^ Yang Q, Rasmussen SA, Friedman JM (March 2002). ”Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study”. Lancet 359 (9311): sid. 1019–25. doi:10.1016/S0140-6736(02)08092-3. PMID 11937181. http://www.ds-health.com/abst/a0205.htm. 
  9. ^ Lee; Park, TI; Park, SH; Park, JY (2003). ”Loss of heterozygosity on the long arm of chromosome 21 in non–small cell lung cancer”. Ann Thorac Surg 75 (5): sid. 1597–1600. doi:10.1016/S0003-4975(02)04902-0. PMID 12735585. http://ats.ctsnetjournals.org/cgi/content/full/75/5/1597. 
  10. ^ [a b] ACOG Guidelines Bulletin #77 clearly state that the sensitivity of the Quad Test is 81%
  11. ^ ”Dear New or Expectant Parents”. Dear New or Expectant Parents. National Down Syndrome Society. http://www.ndss.org/index.php?option=com_content&task=view&id=2015&Itemid=198. Läst 12 maj 2006.  Also ”Research projects - Early intervention and education”. Research projects - Early intervention and education. http://www.downsed.org/topics/early-intervention/. Läst 2 juni 2006. 
  12. ^ 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): sid. 30–31.  Also, Kumin, Libby (1998). ”Comprehensive speech and language treatment for infants, toddlers, and children with Down syndrome”. i Hassold, T.J.and D. Patterson. Down Syndrome: A Promising Future, Together. New York: Wiley-Liss. 
  13. ^ ”Development of Fine Motor Skills in Down Syndrome”. Development of Fine Motor Skills in Down Syndrome. http://www.about-down-syndrome.com/fine-motor-skills-in-down-syndrome.html. Läst 3 juli 2006. 
  14. ^ M. Bruni. ”Occupational Therapy and the Child with Down Syndrome”. Occupational Therapy and the Child with Down Syndrome. http://www.ds-health.com/occther.htm. Läst 2 juni 2006. 
  15. ^ Roberts JE, Price J, Malkin C (2007). ”Language and communication development in Down syndrome”. Ment Retard Dev Disabil Res Rev 13 (1): sid. 26–35. doi:10.1002/mrdd.20136. PMID 17326116. 
  16. ^ S.E.Armstrong. ”Inclusion: Educating Students with Down Syndrome with Their Non-Disabled Peers”. Inclusion: Educating Students with Down Syndrome with Their Non-Disabled Peers. http://www.altonweb.com/cs/downsyndrome/index.htm?page=ndssincl.html. Läst 12 maj 2006.  Also, see Debra L. Bosworth. ”Benefits to Students with Down Syndrome in the Inclusion Classroom: K-3”. Benefits to Students with Down Syndrome in the Inclusion Classroom: K-3. http://www.altonweb.com/cs/downsyndrome/index.htm?page=bosworth.html. Läst 12 juni 2006.  Finally, see a survey by NDSS on inclusion, Gloria Wolpert (1996). ”The Educational Challenges Inclusion Study”. The Educational Challenges Inclusion Study. National Down Syndrome Society. http://www.altonweb.com/cs/downsyndrome/index.htm?page=wolpert.html. Läst 28 juni 2006. 
  17. ^ There are many such programs. One is described by Action Alliance for Children, ”Special needs, "mainstream" classroom”. http://www.4children.org/news/103spec.htm. Okänd parameter author Also, see ”Special needs, "mainstream" classroom”. http://www.4children.org/pdf/103spec.pdf. Okänd parameter author
  18. ^ Hsiang YH, Berkovitz GD, Bland GL, Migeon CJ, Warren AC (1987). ”Gonadal function in patients with Down syndrome”. Am. J. Med. Genet. 27 (2): sid. 449–58. doi:10.1002/ajmg.1320270223. PMID 2955699. 
  19. ^ 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): sid. 294–8. doi:10.1136/jmg.26.5.294. PMID 2567354. 
  20. ^ Pradhan M, Dalal A, Khan F, Agrawal S (2006). ”Fertility in men with Down syndrome: a case report”. Fertil Steril 86 (6): sid. 1765.e1–3. doi:10.1016/j.fertnstert.2006.03.071. PMID 17094988. 
  21. ^ McClure HM, Belden KH, Pieper WA, Jacobson CB (September 1969). ”Autosomal trisomy in a chimpanzee: resemblance to Down's syndrome”. Science 165 (897): sid. 1010–2. doi:10.1126/science.165.3897.1010. PMID 4240970. 
  22. ^ ”Down's syndrome recreated in mice”. Down's syndrome recreated in mice. BBC News. 2005-09-22. http://news.bbc.co.uk/1/hi/health/4268226.stm. Läst 14 juni 2006. 
  23. ^ For a description of human karyotype see Mittleman, A. (editor) (1995). ”An International System for Human Cytogenetic Nomeclature”. An International System for Human Cytogenetic Nomeclature. http://www.iscn1995.org/. Läst 4 juni 2006. 
  24. ^ [a b c] ”Down syndrome occurrence rates (NIH)”. Down syndrome occurrence rates (NIH). http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm#TheOccurrence. Läst 2 juni 2006. 
  25. ^ Mosaic Down syndrome on the Web
  26. ^ International Mosaic Down syndrome Association
  27. ^ Petersen MB, Tranebjaerg L, McCormick MK, Michelsen N, Mikkelsen M, Antonarakis SE (1990). ”Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q”. Am J Med Genet Suppl 7: sid. 104–9. PMID 2149934. 
  28. ^ 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): sid. 46–51. doi:10.1002/1097-0223(200101)21:1<46::AID-PD984>3.0.CO;2-C. PMID 11180240. 
  29. ^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Combined Test is 82-87%
  30. ^ NIH FASTER study (NEJM 2005 (353):2001). See also J.L. Simplson's editorial (NEJM 2005 (353):19).
  31. ^ ACOG Guidelines Bulletin #77 state that the sensitivity of the Integrated Test is 94-96%
  32. ^ Fackler, A. ”Down syndrome”. Down syndrome. http://health.yahoo.com/topic/children/baby/article/healthwise/hw167989. Läst 7 september 2006. 
  33. ^ 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): sid. 808–812. 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 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): sid. 410–416. doi:10.1002/1096-8628(20000828)93:5<410::AID-AJMG12>3.0.CO;2-F. PMID 10951466. 
  34. ^ ”Society 'more positive on Down's'”. BBC News. 24 november 2008. http://news.bbc.co.uk/1/hi/health/7746747.stm. 
  35. ^ Peter Horrocks (5 december 2008). ”Changing attitudes?”. BBC News. http://www.bbc.co.uk/blogs/theeditors/2008/12/changing_attitudes.html. 
  36. ^ Glover, NM and Glover, SJ (1996). ”Ethical and legal issues regarding selective abortion of fetuses with Down syndrome”. Ment. Retard. 34 (4): sid. 207–214. PMID 8828339. 
  37. ^ Will, George (2005-04-01). ”Eugenics By Abortion: Is perfection an entitlement?”. Washington Post: sid. A37. http://www.washingtonpost.com/wp-dyn/articles/A51671-2005Apr13.html. 
  38. ^ Letter: Ghost of eugenics stalks Down's babies | Independent, The (London) | Find Articles at BNET.com
  39. ^ New Eugenics and the newborn: The historical "cousinage" of eugenics and infanticide, The | Ethics & Medicine | Find Articles at BNET.com
  40. ^ 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): sid. 40–47. doi:10.1002/mrdd.10056. PMID 12587137. http://www3.interscience.wiley.com/cgi-bin/abstract/102531130/ABSTRACT. Läst 3 juli 2006. 
  41. ^ Green, RM (1997). ”Parental autonomy and the obligation not to harm one's child genetically”. J Law Med Ethics 25 (1): sid. 5–15. doi:10.1111/j.1748-720X.1997.tb01389.x. PMID 11066476. 
  42. ^ Rayner, Clare (27 juni 1995). ”ANOTHER VIEW: A duty to choose unselfishly”. The Independent. http://www.independent.co.uk/opinion/another-view-a-duty-to-choose-unselfishly-1588540.html. Läst 30 oktober 2009. 
  43. ^ Singer, Peter (1993). ”Taking Life: Humans”. Practical ethics (2nd). Cambridge University Press. Sid. 395. ISBN 052143971X. 
  44. ^ Olbrisch RR (1982). ”Plastic surgical management of children with Down syndrome: indications and results”. British Journal of Plastic Surgery 35 (2): sid. 195–200. doi:10.1016/0007-1226(82)90163-1. PMID 6211206. 
  45. ^ Parens, E. (editor) (2006). Surgically Shaping Children : Technology, Ethics, and the Pursuit of Normality. Baltimore: Johns Hopkins University Press. ISBN 0-8018-8305-9. 
  46. ^ Klaiman, P and E Arndt (1989). ”Facial reconstruction in Down syndrome: perceptions of the results by parents and normal adolescents”. Cleft Palate Journal 26 (3): sid. 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 (4): sid. 498–504. doi:10.1016/0007-1226(86)90120-7. PMID 2946342. 
  47. ^ SA Pensler; Pensler, JM (1990). ”The efficacy of tongue resection in treatment of symptomatic macroglossia in the child”. Ann Plast Surg 25 (1): sid. 14–17. doi:10.1097/00000637-199007000-00003. PMID 2143060. 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: sid. 305–310. doi:10.1159/000083122. 
  48. ^ Leshin, L (2000). ”Plastic Surgery in Children with Down Syndrome”. Plastic Surgery in Children with Down Syndrome. http://www.ds-health.com/psurg.htm. Läst 25 juli 2006. 
  49. ^ National Down Syndrome Society. ”Position Statement on Cosmetic Surgery for Children with Down Syndrome”. Position Statement on Cosmetic Surgery for Children with Down Syndrome. http://www.ndss.org/content.cfm?fuseaction=InfoRes.HlthArticle&article=34. Läst 2 juni 2006. 
  50. ^ For criticism of the method, see ”Psychomotor Patterning”. http://www.quackwatch.org/01QuackeryRelatedTopics/patterning.html. Okänd parameter author
  51. ^ Young, Emma (22 mars 2002). ”Down's syndrome lifespan doubles”. New Scientist. http://www.newscientist.com/article.ns?id=dn2073. Läst 14 oktober 2006. 
  52. ^ McPhee, J.; Tierney, Lawrence M.; Papadakis, Maxine A. (1999). Current medical diagnosis & treatment 1999. Norwalk, CT: Appleton & Lange. Sid. 1546. ISBN 0-8385-1550-9. 
  53. ^ Based on estimates by National Institute of Child Health & Human Development ”Down syndrome rates”. Down syndrome rates. Arkiverad från originalet den 2006-09-01. http://web.archive.org/web/20060901004316/http://www.nichd.nih.gov/publications/pubs/downsyndrome/down.htm#Questions. Läst 21 juni 2006. 
  54. ^ 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): sid. 1301–5. http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5451a2.htm. 
  55. ^ Huether, C.A.; Ivanovich, J; Goodwin, B S; Krivchenia, E L; Hertzberg, V S; Edmonds, L D; May, D S; Priest, J H (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): sid. 482–490. doi:10.1136/jmg.35.6.482. PMID 9643290. 
  56. ^ Estimate from ”National Down Syndrome Center”. National Down Syndrome Center. http://www.ndsccenter.org/resources/package3.php. Läst 21 april 2006. 
  57. ^ ”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. Läst 17 februari 2008. ”incidence increases...especially when...the father is older than age 42” 
  58. ^ Warner, Jennifer. "Dad's Age Raises Down Syndrome Risk, Too", ”WebMD Medical News”. WebMD Medical News. http://www.webmd.com/infertility-and-reproduction/news/20030701/dad-age-down-syndrome. Läst 29 september 2007. 
  59. ^ Down, J.L.H. (1866). ”Observations on an ethnic classification of idiots”. Clinical Lecture Reports, London Hospital 3: sid. 259–262. http://www.neonatology.org/classics/down.html. Läst 14 juli 2006.  För en historia om sjukdomen, se OC Ward (1998). John Langdon Down, 1828–1896. Royal Society of Medicine Press. ISBN 1-85315-374-5.  eller Conor, Ward. ”John Langdon Down and Down's syndrome (1828–1896)”. John Langdon Down and Down's syndrome (1828–1896). http://www.intellectualdisability.info/values/history_DS.htm. Läst 2 juni 2006. 
  60. ^ Conor, W.O. (1999). ”John Langdon Down: The Man and the Message”. Down Syndrome Research and Practice 6 (1): sid. 19–24. doi:10.3104/perspectives.94. 
  61. ^ Warkany, J. (1971). Congenital Malformations. Chicago: Year Book Medical Publishers, Inc. Sid. 313–314. ISBN 0-8151-9098-0. 
  62. ^ Lejeune J, Gautier M, Turpin R (1959). ”Etude des chromosomes somatiques de neuf enfants mongoliens”. Comptes Rendus Hebd Seances Acad Sci 248 (11): sid. 1721–2. http://gallica.bnf.fr/ark:/12148/bpt6k32002/f1759.chemindefer. 
  63. ^ ”Jérôme Lejeune Foundation”. Jérôme Lejeune Foundation. http://www.fondationlejeune.org/eng/Content/Fondation/professeurlj.asp. Läst 2 juni 2006. 
  64. ^ Gordon, Allen (1961). ”Mongolism (Correspondence)”. The Lancet 1 (7180): sid. 775. 
  65. ^ Howard-Jones, Norman (1979). ”On the diagnostic term "Down's disease"”. Medical History 23 (1): sid. 102–104. PMID 153994. 
  66. ^ 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): sid. 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): sid. 513. 1975. doi:10.1016/S0140-6736(75)92847-0. PMID 46972. 
  67. ^ Leshin, Len (2003). ”What's in a name”. What's in a name. http://www.ds-health.com/name.htm. Läst 12 maj 2006. 
  68. ^ Inclusion. National Down Syndrome Society. http://www.ndss.org/index.php?option=com_content&task=view&id=1941&Itemid=236. Läst 21 maj 2006. 
  69. ^ National Down Syndrome Society
  70. ^ Down Syndrome South Africa
  71. ^ Mall:OMIM, gene located at 21q21. Retrieved on 2006-12-05.
  72. ^ Shekhar, Chandra (2006-07-06). ”Down syndrome traced to one gene”. Down syndrome traced to one gene. The Scientist. http://www.the-scientist.com/news/display/23869/. Läst 11 juli 2006. 
  73. ^ [a b] Mall:OMIM, located at 21 q22.3. Retrieved on 2006-12-05.
  74. ^ Ellis JM, Tan HK, Gilbert RE (2008). ”Supplementation with antioxidants and folinic acid for children with Down's syndrome: randomised controlled trial”. BMJ 336 (7644): sid. 594–7. doi:10.1136/bmj.39465.544028.AE. PMID 18296460. 

References

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Research bibliography

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  • Arron JR, Winslow MM, Polleri A (2006). ”NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21”. Nature 441 (7093): sid. 595–600. doi:10.1038/nature04678. PMID 16554754. 
  • Epstein CJ (June 2006). ”Down's syndrome: critical genes in a critical region”. Nature 441 (7093): sid. 582–3. doi:10.1038/441582a. PMID 16738647. 
  • Ganong, W.J. (2005). Review of Medical Physiology (21st). New York: Mc-Graw Hill. ISBN 0071402365. 
  • Nelson DL, Gibbs RA (2004). ”Genetics. The critical region in trisomy 21”. Science (journal) 306 (5696): sid. 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): sid. 687–90. doi:10.1126/science.1098992. PMID 15499018. 
  • Hattori M, Fujiyama A, Taylor TD (2000). ”The DNA sequence of human chromosome 21”. Nature 405 (6784): sid. 311–9. doi:10.1038/35012518. PMID 10830953. 
  • Underwood, J.C.E. (2004). General and Systematic Pathology (4th). Edinburgh: Churchill Livingstone. ISBN 0443073341. 

General bibliography

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  • 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): sid. 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). 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. 
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Wikimedia Commons har media som rör Jopparn/översättning.

{{featured article}} {{Chromosomal abnormalities}} {{FA_link|es}} {{DEFAULTSORT:Down Syndrome}} [[Category:Down syndrome| ]] [[Category:Mental retardation]] [[Category:Genetic disorders]] [[Category:Syndromes]] {{Link FA|es}} [[ar:متلازمة داون]] [[bs:Downov sindrom]] [[bg:Синдром на Даун]] [[ca:Síndrome de Down]] [[cs:Downův syndrom]] [[cy:Syndrom Down]] [[da:Downs syndrom]] [[de:Down-Syndrom]] [[dv:ޑައުން ސިންޑްރޯމް]] [[et:Downi sündroom]] [[el:Σύνδρομο Down]] [[es:Síndrome de Down]] [[eo:Down-sindromo]] [[eu:Down sindromea]] [[fa:سندرم داون]] [[fr:Syndrome de Down]] [[gl:Síndrome de Down]] [[ko:다운 증후군]] [[hy:Դաունի համախտանիշ]] [[id:Sindrom down]] [[it:Sindrome di Down]] [[he:תסמונת דאון]] [[ka:დაუნის სინდრომი]] [[ku:Sendroma Down]] [[lv:Dauna sindroms]] [[lt:Dauno sindromas]] [[hu:Down-szindróma]] [[ml:ഡൗണ്‍ സിന്‍ഡ്രോം]] [[ms:Sindrom Down]] [[mn:Дауны синдром]] [[nl:Syndroom van Down]] [[new:डाउन सिन्ड्रम]] [[ja:ダウン症候群]] [[no:Down syndrom]] [[pl:Zespół Downa]] [[pt:Síndrome de Down]] [[ro:Sindrom Down]] [[ru:Синдром Дауна]] [[sq:Sindroma Down]] [[simple:Down syndrome]] [[sk:Downov syndróm]] [[sl:Downov sindrom]] [[sr:Даунов синдром]] [[sh:Downov sindrom]] [[fi:Downin oireyhtymä]] [[sv:Downs syndrom]] [[te:డౌన్ సిండ్రోమ్]] [[th:กลุ่มอาการดาวน์]] [[tr:Down sendromu]] [[uk:Синдром Дауна]] [[yo:Aisan Down]] [[zh-yue:唐氏綜合症]] [[zh:唐氏综合征]]

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