Down syndrome

Down syndrome
Down syndrome
Classification and external resources

Boy with Down syndrome assembling a bookcase
ICD-10 Q90
ICD-9 758.0
OMIM 190685
DiseasesDB 3898
MedlinePlus 000997
eMedicine ped/615
MeSH D004314

Down syndrome, or Down's syndrome (primarily in the United Kingdom),[1][2] trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. 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 in a fetus can be identified through chorionic villus sampling or amniocentesis during pregnancy, or in a baby at birth.

Down syndrome is a chromosomal condition 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 and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees[4] and mice.

Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome tend to have a lower-than-average cognitive ability, often ranging from mild to moderate disabilities. Many children with Down syndrome who have received family support, enrichment therapies, and tutoring have been known to graduate from high school and college, and enjoy employment in the work force. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100.[5] A small number have a severe to high degree of intellectual disability.

Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (an abnormally small chin),[6] an unusually round face, macroglossia[7] (protruding or oversized tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity.

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.[8]



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.[9] 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;[10] 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.[11]

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.

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.[12]

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.[13][14] The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21.

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.[15] 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.[11] However, almost 40 years later, the term ‘mongolism’ still appears in leading medical texts such as General and Systematic Pathology, 4th Edition, 2004, edited by Professor Sir James Underwood. 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.[16]

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."[17] 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.[18]

Signs and symptoms


The signs and symptoms Down syndrome are characterized by the neotenization of the brain and body to the fetal state.[19] Down syndrome is characterized by decelerated maturation (neoteny), incomplete morphogenesis (vestigia) and atavisms.[20] Dr. Weihs considers Down syndrome to be a condition of "neoteny" that makes people "like a baby."[21]

Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual 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.

Physical characteristics

Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (abnormally small chin),[6] oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a mongoloid fold),[21][7] 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,[7][21] "face is flat and broad",[10] a short neck, white spots on the iris known as Brushfield spots,[22] 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.[21]

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[21]—the average height for men is 5 feet 1 inch (154 cm) and for women is 4 feet 9 inches (144 cm).[23] Individuals with DS are also at increased risk for obesity as they age[24] and tend to be "round in shape".[21]

Characteristics Percentage[25] Characteristics Percentage[25]
mental retardation 100% small teeth 60%
stunted growth 100% flattened nose 60%
atypical fingerprints 90% clinodactyly 52%
separation of the abdominal muscles 80% umbilical hernia 51%
flexible ligaments 80% short neck 50%
hypotonia 80% shortened hands 50%
brachycephaly 75% congenital heart disease 45%
smaller genitalia 75% single transverse palmar crease 45%
eyelid crease 75% Macroglossia (larger tongue) 43%
shortened extremities 70% epicanthal fold 42%
oval palate 69% Strabismus 40%
low-set and rounded ear 60% Brushfield spots (iris) 35%

Mental characteristics

Most individuals with Down syndrome have intellectual disability in the mild (IQ 50–70) to moderate (IQ 35–50) range,[26] with individuals having Mosaic Down syndrome typically 10–30 points higher.[27]

Dr. Weihs notes the mental qualities of people with Down syndrome to be "unsexual," "playful," "affectionate," "mischievous" and "imitative".[21]

Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay.[28] Fine motor skills are delayed[29] 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.[30]

Criticism of IQ tests for people with Down syndrome

Chris Borthwick claims parents and educators have low expectations for people with Down syndrome which depresses tested IQ of people with Down syndrome.[31] Also, he claims that IQ tests do not take into account the hearing impairment 62% of people with Down syndrome face or the vision impairment 77% of people with Down syndrome face.[31] These physical disabilities would slow the test-taking performance of a person with Down syndrome, resulting in a lower IQ score.[31]


Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21

Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes).[32] 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.[33]

Trisomy 21

Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.[34] The actual Down syndrome "critical region" encompasses chromosome bands 21q22.1-q22.3.[35]


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).[36][37] 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.[34]

Robertsonian translocation

The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation in the karyotype of one of the parents. In this case, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14 [45,XX,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.[34] It does not show the maternal age effect, and is just as likely to have come from fathers as mothers.

Duplication of a portion of chromosome 21

Rarely, a region of chromosome 21 will undergo a duplication event. This will lead to extra copies of some, but not all, of the genes on chromosome 21 (46,XX, dup(21q)).[38] 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 rare and no rate estimates are available.


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.[39] 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).[40] 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.[41] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35,[42] reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42,[43] also increases the risk of Down syndrome manifesting.[44]

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.


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 condition. 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%[45] 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).[46]
Nuchal translucency/free beta/PAPPA screen (aka "1st Trimester Combined Test") 10–13.5 85%[47] 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.[48] 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%[49] 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%.

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.[50]

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%).[51][52] 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..[53]

Abortion rates

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.[54] 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%.[55][56]

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.[54]

Ethical issues

Medical ethicist Ronald Green argues that parents have an obligation to avoid 'genetic harm' to their offspring,[57] 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."[58]

Some physicians and ethicists are concerned about the ethical ramifications of the high abortion rate for this condition.[59] Conservative commentator George Will called it "eugenics by abortion".[60] 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".[61] Doctor David Mortimer has argued in Ethics & Medicine that "Down's syndrome infants have long been disparaged by some doctors and government bean counters."[62] 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."[63] 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."[64]


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. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy.

Congenital heart disease

The incidence of congenital heart disease in children with Down syndrome is up to 50%.[65] 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 30% of patients.


Hematologic malignancies such as leukemia are more common in children with DS. In particular, the risk for acute lymphoblastic leukemia is 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. This form of leukemia is typically benign and resolves on its own over several months, though it can lead to other serious illnesses.[66] 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.[67]

Decreased incidence of many cancer types

Health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer[68]—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,[69] 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.[45]

Thyroid disorders

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.[70]


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.[71] 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.[72]


There is infertility among both males and females with Down syndrome; males are usually unable to father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[citation needed] 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.[73] Men with DS are almost uniformly infertile, exhibiting defects in spermatogenesis.[74] There have been only three recorded instances of males with Down syndrome fathering children.[75][76]


Children and adults with DS are at increased risk for developing epilepsy.[77][78] 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.

Ophthalmology and otolaryngology

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.[79] Brushfield spots (small white or grayish/brown spots on the periphery of the iris) may be present.

Hearing loss

In the past, prior to current treatment, there was a 38–78% incidence of hearing loss in children with Down syndrome. Fortunately, with aggressive, meticulous and compulsive diagnosis and treatment of chronic ear disease (e.g. otitis media, also known as Glue-ear) in children with Down syndrome, approximately 98% of the children have normal hearing levels.[80]

However, more recent studies show that hearing impairment and otological problems are still found in 38-90% of children with Down syndrome compared to 2.5% for normal children.[81][82][83]

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.[83] Problems may include:

  • stenosis of the ear canal
  • malformation of the malleus, incus, and stapes
  • shortened or narrow cochlea
  • neural transmission rates that are accelerated (at the level or brainstem) or delayed (at the level of the cortex)
  • weak immune system leading to increased middle ear pathology

Otitis media with effusion is the most common cause of hearing loss in Down children,[82] the infections start at birth and continue throughout the children’s lives.[84] 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.[85] Middle ear problems account for 83% of hearing loss in children with Down syndrome.[85] The degree of hearing loss varies but even a mild degree can have major consequences on speech perception, language acquisition, development and academic achievement[84] if not detected in time and corrected.[82]

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.[81] Given this background it is always important to rule out hearing loss as a contributing factor in social and mental deterioration.[83]

Other complications

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.[86] Periodic screening, with cervical x-rays, is recommended to identify this condition.

Other serious illnesses include immune deficiencies.


The above 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.[87] 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 live into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia.[88]


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.

Examination at birth

Initial examination of newborns with DS should pay particular attention to certain physical signs that are more commonly found in DS. Evaluation of the red reflex can help identify congenital cataracts. Movement of the eyes should be observed to identify strabismus. Constipation should raise concerns for Hirschsprung's disease and feeding problems should prompt intense education to ensure adequate input and nutrition.

At birth, an ultrasound of the heart (echocardiogram) should be done immediately in order to identify congenital heart disease (this should be carried out by someone with experience in pediatric cardiology). A complete blood count should be done in order to identify pre-existing leukemia. A hearing test using brainstem auditory evoked responses (BAERS) testing should be performed and any hearing deficits further characterized. The thyroid function should also be tested. Early Childhood Intervention should be involved from birth to help coordinate and plan effective strategies for learning and development.

The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down syndrome for particular diseases.[89] These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed.

Plastic surgery

Plastic surgery has sometimes been advocated and performed on children with Down syndrome, based on the assumption that surgery can reduce the facial features associated with Down syndrome, therefore decreasing social stigma, and leading to a better quality of life.[90] Plastic surgery on children with Down syndrome is uncommon,[91] 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...."[92] 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.[93] 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."[94] The U.S. National Down Syndrome Society has issued a "Position Statement on Cosmetic Surgery for Children with Down Syndrome",[95] which states "The goal of inclusion and acceptance is mutual respect based on who we are as individuals, not how we look."

Cognitive development

The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs.[96] 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.[97]

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.[98]

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.[99]

Speech delay may require speech therapy to improve expressive language.[28]

Childhood and adulthood follow-up

As children with DS grow, their progress should be plotted on a growth chart in order to detect deviations from expected growth. Special growth charts are available so that children with DS can be compared with other children with DS. Thyroid function testing should be performed at 6 months and 12 months of age as well as yearly thereafter. Evaluation of the ears for infection as well as objective hearing tests should be performed at every visit. Formal evaluation for refractive errors requiring glasses should be performed at least every two years with subjective vision assessments with each visit. After the age of three, an x-ray of the neck should be obtained to screen for atlanto-axial instability. As the child ages, yearly symptom screening for obstructive sleep apnea should be performed.[89]

Alternative treatment

The Institutes for the Achievement of Human Potential is a nonprofit organization that 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,[100] and is considered alternative medicine.

Some experimental work with memantine - a NMDA-dampener usually used for Alzheimer’s - is being conducted by Alberto Costa, a physician and neuroscientist at University of Colorado. Dan Hurley (2011-07-29). "A Drug for Down Syndrome". The New York Times. Retrieved 2011-07-30. 


Down syndrome is “a developmental condition 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 disregulation 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 and others 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 (688–90). 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 (311–13).

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[101] is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties.[102] Another gene, ETS2[103] 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."[103]

Human chromosome 21 contains five microRNA genes: miR-99a, let-7c, miR-125b-2, miR-155,and miR-802. MiR-155 and miR-802 regulate the expression of the methyl-CpG-binding protein (MeCP2). It has been suggested that the underexpression of MeCP2, secondary to trisomic overexpression of Human chromosome 21 derived miRNAs, may result in aberrant expression of the transcription factors of CREB1 and MEF2C . This in turn may lead to abnormal brain development through anomalous neuronal gene expression during the critical period of synaptic maturation by alterating neurogenesis, neuronal differentiation, myelination, and synaptogenesis.[104]


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,[105] 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;[106] MENCAP advocating for all with mental disabilities, which was founded in the UK in 1946 by Judy Fryd;[107] 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.[108] 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."[109] In South Africa, Down Syndrome Awareness Day is held every October 20.[110] Organizations such as Special Olympics Hawaii provide year-round sports training for individuals with intellectual disabilities such as Down syndrome.

Notable individuals

Scottish award-winning film and TV actress Paula Sage receives her BAFTA award with Brian Cox.

Cultural depictions of Down syndrome

Portrayal in fiction


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Research bibliography

  • Arron, JR; Winslow, MM; Polleri A (2006). "NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21". Nature 441 (7093): 595–600. doi:10.1038/nature04678. PMID 16554754. 
  • Epstein CJ (June 2006). "Down's syndrome: critical genes in a critical region". Nature 441 (7093): 582–83. doi:10.1038/441582a. PMID 16738647. 
  • Ganong, WJ (2005). Review of Medical Physiology (21st ed.). New York: Mc-Graw Hill. ISBN 0071402365. 
  • Nelson, DL; Gibbs, RA (2004). "Genetics. The critical region in trisomy 21". Science 306 (5696): 619–21. doi:10.1126/science.1105226. PMID 15499000. 
  • Olson, LE; Richtsmeier, JT; Leszl, J; Reeves, RH (2004). "A chromosome 21 critical region does not cause specific Down syndrome phenotypes". Science 306 (5696): 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): 311–19. doi:10.1038/35012518. PMID 10830953. 
  • Underwood, JCE (2004). General and Systematic Pathology (4th ed.). Edinburgh: Churchill Livingstone. ISBN 0443073341. 

General bibliography

  • Beck, MN (1999). Expecting Adam. New York: Berkley Books. ISBN 0425174484. 
  • Buckley, S (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. ISBN 1903806011. 
  • Down's Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down's Syndrome Research Foundation. 
  • Dykens EM (2007). "Psychiatric and behavioral disorders in persons with Down syndrome". Ment Retard Dev Disabil Res Rev 13 (3): 272–78. doi:10.1002/mrdd.20159. PMID 17910080. 
  • Hassold, TJ; Patterson, D eds. (1999). Down Syndrome: A Promising Future, Together. New York: Wiley Liss.
  • Kingsley, J; Levitz M (1994). Count Us In: Growing up with Down Syndrome. San Diego: Harcourt Brace. ISBN 015622660X. 
  • Koch, Richard; De La Cruz, Felix F, eds (1975). Downs Syndrome...: Research, Prevention and Management. Proceedings of a Conference on Down's Syndrome. New York: Brunner/Mazel. ISBN 0-87630-093-X 
  • Pueschel, SM; Sustrova, M eds. (1997). Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD: Brookes Paul H
  • Selikowitz, M (1997). Down Syndrome: The Facts (2nd ed.). Oxford, UK: Oxford University Press. ISBN 0192626620. 
  • Van Dyke, DC; Mattheis, PJ; Schoon Eberly, S; Williams, J (1995). Medical and Surgical Care for Children with Down Syndrome. Bethesda, MD: Woodbine House. ISBN 0933149549. 
  • Zuckoff, M (2002). Choosing Naia: A Family's Journey. New York: Beacon Press. ISBN 0807028177. 

External links

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