About Down Syndrome

Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies born in the United States.

The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives.

Though Down syndrome can't be prevented, it can be detected before a child is born. The health problems that may go along with DS can be treated, and many resources are available to help kids and their families who are living with the condition.

What Causes It?

Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical features and developmental delays associated with DS.

Although no one knows for sure why DS occurs and there's no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has about a 1 in 1,000 chance of conceiving a child with DS. Those odds increase to about 1 in 400 by age 35. By 40 the risk rises to about 1 in 100.

Down syndrome
From Wikipedia, the free encyclopedia

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 (DS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy ofchromosome 21.[1] Trisomy 21 is the most common chromosome abnormality in humans.[2] It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics.[1] The average IQ of young adults with Down syndrome is around 50, whereas young adults without the condition typically have an IQ of 100.[1][3] (MR has historically been defined as an IQ below 70.) A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.[1]

Down syndrome is named after John Langdon Down, the British physician who described the syndrome in 1866.[4] The condition was clinically described earlier by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844.[5] Down syndrome was identified as a chromosome 21trisomy by Dr. Jrme Lejeune in 1959. Down syndrome can be identified in a baby at birth or before birth by prenatal screening.[1][6] Pregnancies with this diagnosis are often terminated.[7] The CDC estimates that about one of every 691 babies born in the United States each year is born with Down syndrome.[8] Many children with Down syndrome are educated in regular school classes while others require specialised educational facilities. Some children graduate from high school,[9] and, in the US, there are increasing opportunities for participating in post-secondary education.[10] Education and proper care has been shown to improve quality of life significantly.[11] Many adults with Down Syndrome are able to work at paid employment in the community, while others require a more sheltered work environment.[9]

Contents
[hide]

1 Signs and symptoms

o o o o o o o o o

1.1 Mental characteristics and neurology 1.2 Congenital heart disease 1.3 Cancer 1.4 Thyroid disorders 1.5 Gastrointestinal 1.6 Infertility 1.7 Eye disorders 1.8 Hearing disorders 1.9 Other complications

2 Genetics

o o

2.1 Trisomy 21 2.2 Robertsonian translocation

3 Prenatal testing

o o o o

3.1 Ultrasound 3.2 Blood tests 3.3 Amniocentesis and CVS 3.4 Abortion rates

4 Postnatal diagnosis 5 Management

o o

5.1 Plastic surgery 5.2 Cognitive development

6 Epidemiology 7 Research history 8 Ethical issues 9 Society and culture

o o

9.1 World Down Syndrome Day 9.2 Notable individuals

10 Footnotes 11 References

o o

11.1 Research bibliography 11.2 General bibliography

12 External links

Signs and symptoms

A drawing of the facial features of Down syndrome

Feet of a boy with Down Syndrome

The signs and symptoms of Down syndrome are characterized by the neotenization of the brain and body.[12] Down syndrome is characterized by decelerated maturation (neoteny), incomplete morphogenesis (vestigia) and atavisms.[13] Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (abnormally small chin),[14] oblique eye fissures on the inner corner of the eyes,[15][16] 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) ormacroglossia,[15][16] "face is flat and broad",[17] a short neck, white spots on the iris known as Brushfield spots,[18] excessive joint laxity includingatlanto-axial instability, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, a higher number of ulnar loopdermatoglyphs and short fingers.[16] 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[16]the

average height for men is 5 feet 1 inch (154 cm) and for women is 4 feet 9 inches (144 cm).[19] Individuals with DS are also at increased risk for obesity as they age.[20]
Characteristics Percentage
[21]

Characteristics

Percentage

[21]

stunted growth

100%

flattened nose

60%

mental retardation

99.8%

small teeth

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%

epicanthic fold

42%

oval palate

69%

strabismus

40%

low-set and rounded ear

60%

Brushfield spots (iris)

35%

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, may affect the function of any organ system or bodily process, and can contribute to a shorter life expectancy for people with Down syndrome. Following improvements to medical care, particularly with heart problems, the life expectancy among persons with Down syndrome has increased from 12 years in 1912, to 60 years.[22] In March 2012

the Guinness Book of Recordswebsite listed Joyce Greenman, now 87, of London, who was born on March 14, 1925, as the oldest living person with Down syndrome, (recorded correct and checked as of 29 April 2008). 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 dementia like Alzheimer's disease.[23] The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down syndrome for particular diseases.[24]

Mental characteristics and neurology

Most individuals with Down syndrome have intellectual disability in the mild (IQ 5070) to moderate (IQ 35 50) range,[25] with individuals having Mosaic Down syndrome typically 1030 points higher.[26] The methodology of the IQ tests has been criticised for not taking into account accompanying physical disabilities, such as hearing and vision impairment, that would slow performance. [27] 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 four. 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] Children and adults with DS are at increased risk for developing epilepsy and also Alzheimer's disease.[31]

Congenital heart disease

The incidence of congenital heart disease in newborn babies with Down syndrome is up to 50%.[32] An atrioventricular septal defect also known as endocardial cushion defect is the most common form with up to 40% of patients affected. This is closely followed by ventricular septal defect that affects approximately 35% of patients.[32]

Cancer
Although the general incidence of cancer amongst individuals with Down syndrome is the same as in the general population,[33] there are greatly reduced incidences of many common malignancies except leukemia and testicular cancer.[34] People with Down syndrome also have a much lower risk of hardening of the arteries and diabetic retinopathy.[35] Hematologic malignancies such as leukemia are more common in children with DS.[36] In particular, acute lymphoblastic leukemiais at least 10 times more common in DS and themegakaryoblastic 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.[37] This form of leukemia is typically benign and resolves on its own over several months, though it can lead to other

serious illnesses.[38] 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.[39]

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.[40]

Gastrointestinal
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.[41] 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.[42]

Infertility
Males with Down syndrome usually cannot father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[43] 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.[43] Men with DS are almost uniformly infertile, exhibiting defects in spermatogenesis.[44] There have been only three recorded instances of males with Down syndrome fathering children.[45][46]

Eye disorders

Brushfield spots, visible in the irises of a baby with Down Syndrome.

Eye disorders are more common in people with DS. Almost half have strabismus, in which the two eyes do not move in tandem.Refractive errors requiring glasses or contacts are also common. Cataracts (opacity of the lens), keratoconus (thin, cone-shaped corneas), and glaucoma (increased eye pressures) are also more common in DS.[47] Brushfield spots (small white or grayish/brown spots on the periphery of the iris) may be present.

Hearing disorders

In general, hearing impairment and otological problems are found in 38-78% of children with Down syndrome compared to 2.5% of normal children.[48][49][50] However, attentive diagnosis and aggressive treatment of chronic ear disease (e.g. otitis media, also known as glue-ear) in children with Down syndrome can bring approximately 98% of the children up to normal hearing levels.[51] The elevated occurrence of hearing loss in individuals with Down syndrome is not surprising. Every component in the auditory system is potentially adversely affected by Down syndrome.[50] Otitis media with effusion is the most common cause of hearing loss in Down children;[49] the infections start at birth and continue throughout the children's lives.[52] 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.[53] Middle ear problems account for 83% of hearing loss in children with Down syndrome.[53] The degree of hearing loss varies but even a mild degree can have major consequences for speech perception, language acquisition, development and academic achievement[52] if not detected in time and corrected.[49] Early intervention to treat the hearing loss and adapted education are 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.[48] Given this background it is always important to rule out hearing loss as a contributing factor in social and mental deterioration. [50]