Down syndrome
Down syndrome | |
---|---|
Other names | Down's syndrome, Down's, trisomy 21 |
Prenatal screening, genetic testing[6] | |
Treatment | Physical therapy, Occupational therapy, Speech therapy, Educational support, Supported work environment[7][8] |
Prognosis | Life expectancy 50 to 60 years (developed world)[9][10] |
Frequency | 5.4 million (0.1%)[1][11] |
Named after | John Langdon Down |
Down syndrome 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 of chromosome 21.[3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.[1][12] There are three types of Down syndrome, all with the same features: Trisomy 21, the most common type; Mosaic Down syndrome, and Translocation Down syndrome.[13][14]
The parents of the affected individual are usually
There is no cure for Down syndrome.
Down syndrome is the most common
Signs and symptoms
Those with Down syndrome nearly always have physical and intellectual disabilities.
Characteristics | Percentage | Characteristics | Percentage |
---|---|---|---|
Mental impairment | 99%[32] | Abnormal teeth | 60%[33] |
Stunted growth | 90%[34] | Slanted eyes | 60%[15] |
Umbilical hernia | 90%[35] | Shortened hands | 60%[33] |
Increased skin on back of neck | 80%[28] | Short neck | 60%[33] |
Low muscle tone | 80%[36] | Obstructive sleep apnea | 60%[28] |
Narrow roof of mouth | 76%[33] | Bent fifth finger tip | 57%[15] |
Flat head | 75%[15] | Brushfield spots in the iris | 56%[15] |
Flexible ligaments | 75%[15] | Single transverse palmar crease | 53%[15] |
Proportionally large tongue[37] | 75%[36] | Protruding tongue | 47%[33] |
Abnormal outer ears
|
70%[28] | Congenital heart disease
|
40%[33] |
Flattened nose | 68%[15] | Strabismus | ≈35%[1] |
Separation of first and second toes | 68%[33] | Undescended testicles
|
20%[38] |
Physical
People with Down syndrome may have these physical characteristics: a
Instability of the
Growth in height is slower, resulting in adults who tend to have short stature—the average height for men is 154 cm (5 ft 1 in), and for women is 142 cm (4 ft 8 in).[42] Individuals with Down syndrome are at increased risk for obesity as they age due to hypothyroidism, other medical issues and lifestyle.[28][43] Growth charts have been developed specifically for children with Down syndrome.[28]
Neurological
This syndrome causes about a third of cases of intellectual disability.[15] Many developmental milestones are delayed with the ability to crawl typically occurring around 8–22 months rather than 6–12 months, and the ability to walk independently typically occurring around 1–4 years rather than 9–18 months.[44] Walking is acquired in 50% of children after 24 months.[45]
Most individuals with Down syndrome have mild (IQ: 50–69) or moderate (IQ: 35–50) intellectual disability with some cases having severe (IQ: 20–35) difficulties.[1][46] Those with mosaic Down syndrome typically have IQ scores 10–30 points higher than that.[47] As they age, the gap tends to widen between people with Down syndrome and their same-age peers.[46][48]
Commonly, individuals with Down syndrome have better language understanding than ability to speak.
They typically do fairly well with social skills.
Children and adults with Down syndrome are at increased risk of
Senses
Hearing and vision disorders occur in more than half of people with Down syndrome.[28] Vision problems occur in 38–80% of cases.
Hearing problems are found in 50–90% of children with Down syndrome.
Heart
The rate of
Cancer
Although the overall risk of cancer in Down syndrome is not changed,[60] the risk of testicular cancer and certain blood cancers, including acute lymphoblastic leukemia (ALL) and acute megakaryoblastic leukemia (AMKL) is increased while the risk of other non-blood cancers is decreased.[9] People with Down syndrome are believed to have an increased risk of developing cancers derived from germ cells whether these cancers are blood- or non-blood-related.[61] In 2008, the World Health Organization (WHO) introduced a distinct classification for myeloid proliferation in individuals with Down syndrome.[62]
Blood cancers
Myeloid leukemia typically precedes Down syndrome and is accompanied by a condition known as Transient Abnormal Myelopoiesis (TAM), which generally disrupts the differentiation of megakaryocytes and erythrocytes.[66] In Down syndrome, AMKL is typically preceded by transient myeloproliferative disease (TMD), a disorder of blood cell production in which non-cancerous megakaryoblasts with a mutation in the GATA1 gene rapidly divide during the later period of pregnancy.[63][67] GATA1 mutations combined with Trisomy 21 contribute to a predisposition to Transient Abnormal Myelopoiesis (TAM).[68] In Trisomy 21, the process of leukemogenesis starts in early fetal life, with genetic factors, including GATA1 mutations, contributing to the development of Transient Abnormal Myelopoiesis (TAM) on the preleukemic pathway.[66] The condition affects 3–10% of babies with Down.[63] While it often spontaneously resolves within three months of birth, it can cause serious blood, liver, or other complications.[69] In about 10% of cases, TMD progresses to AMKL during the three months to five years following its resolution.[63][69][68]
Non-blood cancers
People with Down syndrome have a lower risk of all major solid cancers, including those of lung, breast, and cervix, with the lowest relative rates occurring in those aged 50 years or older.[61] This low risk is thought to be due to an increase in the expression of tumor suppressor genes present on chromosome 21.[70][61] One exception is testicular germ cell cancer which occurs at a higher rate in Down syndrome.[61]
Endocrine
Problems of the
Gastrointestinal
Teeth
People with Down syndrome tend to be more susceptible to
People with Down syndrome also tend to have a more
Higher rates of tooth wear and
Taurodontism, an elongation of the pulp chamber, has a high prevalence in people with DS.[78][79]
Fertility
Males with Down syndrome usually do not father children, while females have lower rates of fertility relative to those who are unaffected.[80] Fertility is estimated to be present in 30–50% of females.[81] Menopause usually occurs at an earlier age.[9] The poor fertility in males is thought to be due to problems with sperm development; however, it may also be related to not being sexually active.[80] As of 2006, three instances of males with Down syndrome fathering children and 26 cases of females having children have been reported.[80] Without assisted reproductive technologies, around half of the children of someone with Down syndrome will also have the syndrome.[80][82]
Cause
The cause of the extra full or partial chromosome is still unknown.[83] Most of the time, Down syndrome is caused by a random mistake in cell division during early development of the fetus, but not inherited,[84] and there is no scientific research which shows that environmental factors or the parents' activities contribute to Down syndrome. The only factor that has been linked to the increased chance of having a baby with Down syndrome is advanced parental age. This is mostly associated with advanced maternal age but about 10 per cent of cases are associated with advanced paternal age.[85]
Down syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual two.[3][86] The parents of the affected individual are typically genetically normal.[15] Those who have one child with Down syndrome have about a 1% possibility of having a second child with the syndrome, if both parents are found to have normal karyotypes.[81]
The extra chromosome content can arise through several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in
Trisomy 21
Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males)[89] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction.[82] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 chromosomes. When combined with a normal cell from the other parent, the baby has 47 chromosomes, with three copies of chromosome 21.[3][82] About 88% of cases of trisomy 21 result from nonseparation of the chromosomes in the mother, 8% from nonseparation in the father, and 3% after the egg and sperm have merged.[90]
Mosaic Down syndrome
Mosaic Down syndrome is diagnosed when there is a mixture of two types of cells: some cells have three copies of chromosome 21 but some cells have the typical two copies of chromosome 21.[13] This type is the least common form of Down syndrome and accounts for only about 1% of all cases.[83] Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer characteristics of the condition due to the presence of some (or many) cells with a typical number of chromosomes.[13]
Translocation Down syndrome
The extra chromosome 21 material may also occur due to a
Mechanism
The extra genetic material present in Down syndrome results in overexpression of a portion of the 310 genes located on chromosome 21.
The dementia that occurs in Down syndrome is due to an excess of
Epigenetics
Down syndrome is associated with an increased risk of some chronic diseases that are typically associated with older age such as Alzheimer's disease. It is believed that accelerated aging occurs and increases the biological age of tissues, but molecular evidence for this hypothesis is sparse. According to a biomarker of tissue age known as epigenetic clock, it is hypothesized that trisomy 21 increases the age of blood and brain tissue (on average by 6.6 years).[100]
Diagnosis
Screening before birth
Guidelines recommend screening for Down syndrome to be offered to all pregnant women, regardless of age.[101][102] A number of tests are used, with varying levels of accuracy. They are typically used in combination to increase the detection rate.[28] None can be definitive, thus if screening is positive, either amniocentesis or chorionic villus sampling is required to confirm the diagnosis.[101]
When screening tests predict a high possibility of Down syndrome, a more invasive diagnostic test (amniocentesis or chorionic villus sampling) is needed to confirm the diagnosis.[101]
Ultrasound
-
Ultrasound of fetus with Down syndrome showing alarge bladder
-
Enlarged NT and absent nasal bone in a fetus at 11 weeks with Down syndrome
Blood tests
Several blood markers can be measured to predict the chances of Down syndrome during the first or second trimester.
Testing of the mother's blood for fetal DNA is being studied and appears promising in the first trimester.[107][108] The International Society for Prenatal Diagnosis considers it a reasonable screening option for those women whose pregnancies are at a high likelihood of trisomy 21.[109] Accuracy has been reported at 98.6% in the first trimester of pregnancy.[28] Confirmatory testing by invasive techniques (amniocentesis, CVS) is still required to confirm the screening result.[109]
Combinations
Screen | Week of pregnancy when performed
|
Detection rate | False positive | Description |
---|---|---|---|---|
Combined test | 10–13.5 wks | 82–87% | 5% | Uses PAPP-A
|
Quad screen
|
15–20 wks | 81% | 5% | Measures the maternal serum alpha-fetoprotein, unconjugated estriol, hCG, and inhibin -A
|
Integrated test | 15–20 wks | 94–96% | 5% | Is a combination of the quad screen, PAPP-A, and NT |
Cell-free fetal DNA | From 10 wks[110] | 96–100%[107] | 0.3%[111] | A blood sample is taken from the mother by venipuncture and is sent for DNA analysis. |
Efficacy
For combinations of ultrasonography and non-genetic blood tests, screening in both the first and second trimesters is better than just screening in the first trimester.[101] The different screening techniques in use are able to pick up 90–95% of cases, with a false-positive rate of 2–5%.[105] If Down syndrome occurs in one in 500 pregnancies with a 90% detection rate and the test used has a 5% false-positive rate, this means, of 20 women who test positive on screening, only one will not have a fetus with Down syndrome confirmed.[105] If the screening test has a 2% false-positive rate, this means, of 50 women who test positive on screening, one will not have a fetus with Down syndrome.[105]
Invasive genetic testing
Amniocentesis and chorionic villus sampling are more reliable tests, but they increase the risk of miscarriage by between 0.5-1%.[112] The risk of limb problems may be increased in the offspring if chorionic villus sampling is performed before 10 weeks.[112]
The risk from the procedure is greater the earlier it is performed, thus amniocentesis is not recommended before 15 weeks gestational age and chorionic villus sampling before 10 weeks gestational age.[112]
Abortion rates
About 92% of pregnancies in Europe with a diagnosis of Down syndrome are terminated.[21] As a result, there is almost no one with Down syndrome in Iceland and Denmark, where screening is commonplace.[114] In the United States, the termination rate after diagnosis is around 75%,[114] but varies from 61 to 93%, depending on the population surveyed.[20] Rates are lower among women who are younger and have decreased over time.[20] When asked if they would have a termination if their fetus tested positive, 23–33% said yes, when high-risk pregnant women were asked, 46–86% said yes, and when women who screened positive are asked, 89–97% say yes.[115]
After birth
The diagnosis can often be suspected based on the child's physical appearance at birth.[10] Informing the parents of a diagnosis needs to be made as soon as possible, with care and sensitivity. Even an uncertain diagnosis needs to be informed of in the same way.[116] This allows for a longer time for processing the information.[116]
An analysis of the child's chromosomes is needed to confirm the diagnosis, and to determine if a translocation is present, as this may help determine the chances of the child's parents having further children with Down syndrome.[10]
Management
Efforts such as early childhood intervention, therapies, screening for common medical issues, a good family environment, and work-related training can improve the development of children with Down syndrome and provide good quality of life. Common therapies utilized include physical therapy, occupational therapy and speech therapy.[117] Education and proper care can provide a positive quality of life.[7] Typical childhood vaccinations are recommended.[28]
Health screening
Testing | Children[118] | Adults[9] |
---|---|---|
Hearing | 6 months, 12 months, then yearly | 3–5 years |
TSH |
6 months, then yearly | |
Eyes | 6 months, then yearly | 3–5 years |
Teeth | 2 years, then every 6 months | |
Celiac disease | Between 2 and 3 years of age, or earlier if symptoms occur |
|
Sleep study | 3 to 4 years, or earlier if symptoms of obstructive sleep apnea occur |
|
Neck X-rays | Between 3 and 5 years of age |
A number of health organizations have issued recommendations for screening those with Down syndrome for particular diseases.[118] This is recommended to be done systematically.[28]
At birth, all children should get an
Cognitive development
Some people with Down syndrome experience hearing loss. In this instance,
Education programs before reaching school age may be useful.
Individuals with Down syndrome may learn better visually. Drawing may help with language, speech, and reading skills. Children with Down syndrome still often have difficulty with sentence structure and grammar, as well as developing the ability to speak clearly.[122] Several types of early intervention can help with cognitive development. Efforts to develop motor skills include physical therapy, speech and language therapy, and occupational therapy. Physical therapy focuses specifically on motor development and teaching children to interact with their environment. Speech and language therapy can help prepare for later language. Lastly, occupational therapy can help with skills needed for later independence.[123]
Other
Tympanostomy tubes are often needed[28] and often more than one set during the person's childhood.[54] Tonsillectomy is also often done to help with sleep apnea and throat infections.[28] Surgery does not correct every instance of sleep apnea and a continuous positive airway pressure (CPAP) machine may be useful in those cases.[54]
Efforts to prevent
Prognosis
Between 5-15% of children with Down syndrome in Sweden attend regular school.[128] Some graduate from high school; however, most do not.[23] Of those with intellectual disability in the United States who attended high school about 40% graduated.[129] Many learn to read and write and some are able to do paid work.[23] In adulthood about 20% in the United States do paid work in some capacity.[24][130] In Sweden, however, less than 1% have regular jobs.[128] Many are able to live semi-independently,[15] but they often require help with financial, medical, and legal matters.[10] Those with mosaic Down syndrome usually have better outcomes.[81]
Individuals with Down syndrome have a higher risk of early death than the general population.
Epidemiology
Down syndrome is the most common chromosomal abnormality in humans.
History
English physician
By the 20th century, Down syndrome had become the most recognizable form of mental disability.Due to his perception that children with Down syndrome shared facial similarities with those of Blumenbach's Mongolian race, John Langdon Down used the term "mongoloid".[141] He felt that the existence of Down syndrome confirmed that all peoples were genetically related.[142] In the 1950s with discovery of the underlying cause as being related to chromosomes, concerns about the race-based nature of the name increased.[143]
In 1961, a group of nineteen scientists suggested that "mongolism" had "misleading connotations" and had become "an embarrassing term".[144] The World Health Organization (WHO) dropped the term in 1965 after a request by the delegation from the Mongolian People's Republic.[145] While this racist terminology continued to be used until the late twentieth century,[146]: 21 it is now considered unacceptable and is no longer in common use.
In antiquity, many infants with disabilities were either killed or abandoned.[29] In June 2020, the earliest incidence of Down syndrome was found in genomic evidence from an infant that was buried before 3200 BC at Poulnabrone dolmen in Ireland.[147] Researchers believe that a number of historical pieces of art portray Down syndrome, including pottery from the
In the 20th century, many individuals with Down syndrome were institutionalized, few of the associated medical problems were treated, and most people died in infancy or early adulthood. With the rise of the
With the discovery of karyotype techniques in the 1950s it became possible to identify abnormalities of chromosomal number or shape.[140] In 1959 Jérôme Lejeune reported the discovery that Down syndrome resulted from an extra chromosome.[28] However, Lejeune's claim to the discovery has been disputed,[152] and in 2014 the Scientific Council of the French Federation of Human Genetics unanimously awarded its Grand Prize to his colleague Marthe Gautier for her role in this discovery.[153] The discovery took place in the laboratory of Raymond Turpin at the Hôpital Trousseau in Paris, France.[154] Jérôme Lejeune and Marthe Gautier were both his students.[155]
As a result of this discovery, the condition became known as trisomy 21.[156] Even before the discovery of its cause, the presence of the syndrome in all races, its association with older maternal age, and its rarity of recurrence had been noticed. Medical texts had assumed it was caused by a combination of inheritable factors that had not been identified. Other theories had focused on injuries sustained during birth.[157]
Society and culture
Name
Down syndrome is named after John Langdon Down. He was the first person to provide an accurate description of the syndrome. His research that was published in 1866 earned him the recognition as the Father of the syndrome.[158] While others had previously recognized components of the condition, John Langdon Down described the syndrome as a distinct, unique medical condition.[14]
In 1975, the United States National Institutes of Health (NIH) convened a conference to standardize the naming and recommended replacing the possessive form, "Down's syndrome" with "Down syndrome".[159] However, both the possessive and nonpossessive forms remain in use by the general population.[160] The term "trisomy 21" is also commonly used.[144][161]
Ethics
Obstetricians routinely offer antenatal screenings for various conditions, including Down syndrome.[162][163] As a medically reasonable procedure, requiring informed consent, people should be given information about it.[162] It will then be the woman's choice, based on her personal beliefs, how much or how little screening she wishes.[164][165] When results from testing become available, it is considered an ethical requirement to share the results with the patient.[162][166]
Some bioethicists deem it reasonable for parents to select a child who would have the highest well-being.
Within the US, some
Advocacy groups
Advocacy groups for individuals with Down syndrome began to be formed after the
The first World Down Syndrome Day was held on 21 March 2006.[180] The day and month were chosen to correspond with 21 and trisomy, respectively.[181] It was recognized by the United Nations General Assembly in 2011.[180]
Special21.org, founded in 2015, advocates the need for a specific classification category to enable Down syndrome swimmers the opportunity to qualify and compete at the Paralympic Games.[182] The project began when International Down syndrome swimmer Filipe Santos broke the world record in the 50m butterfly event, but was unable to compete at the Paralympic Games.[183][184]
Paralympic Swimming
International Paralympic Committee Para-swimming classification codes are based upon single impairment only, whereas Down syndrome individuals have both physical and intellectual impairments.
Although Down syndrome swimmers are able to compete in the Paralympic Swimming S14 intellectual impairment category (provided they score low in IQ tests), they are often outmatched by the superior physicality of their opponents.[185][186]
At present there is no designated Paralympic category for swimmers with Down syndrome, meaning they have to compete as intellectually disadvantaged athletes. This disregards their physical disabilities.[187][188]
A number of advocacy groups globally have been lobbying for the inclusion of a distinct classification category for Down syndrome swimmers within the IPC Classification Codes framework.[189]
Despite ongoing advocacy, the issue remains unresolved, and swimmers with Down syndrome continue to face challenges in accessing appropriate classification pathways.[190][191]
Research
Efforts are underway to determine how the extra chromosome 21 material causes Down syndrome, as currently this is unknown,
Other hominids
Down syndrome may also occur in
In popular culture
Individuals
- witch; in the fourth season Freak Show, she portrayed Chester Creb's vision of his doll, Marjorie; in the seventh season Cult, she portrayed Hedda, a member of the 'SCUM' crew, led by feminist Valerie Solanas; and she also returned to her role as Nan in the eighth season, Apocalypse. In February 2015, Brewer became the first woman with Down syndrome to walk the red carpet at New York Fashion Week, for designer Carrie Hammer.[202]
- Sofía Jirau is a Puerto Rican model with Down syndrome, working with top designers and renowned media outlets such Vogue Mexico, People, Hola!, among others.[203][204][205] In February 2020, Jirau made her debut at New York Fashion Week.[206] Then in February 2022, she became the first-ever model with Down Syndrome to be hired by the American retail company Victoria's Secret.[207] She walked the LA Fashion Week runway in 2022.[208] Jirau launched a campaign in 2021 called Sin Límites or No Limits "which seeks to make visible the challenges facing the Down syndrome community, demonstrate our ability to achieve our goals, and raise awareness about the condition throughout the world."[208]
- Chris Nikic is the first person with Down syndrome to finish an Ironman Triathlon.[209] He was awarded the Jimmy V Award for Perseverance at the 2021 ESPY Awards.[210] Nikic continues to run races around the world, using his platform to promote his 1% Better message and bring awareness to the endless possibilities for people with Down syndrome.[211]
- Grace Strobel is an American model and the first person with Down Syndrome to represent an American skin-care brand.[212] She first joined Obagi in 2020, and continues to be an Ambassador for the brand as of 2022.[213][214] She walked the runway representing Tommy Hilfiger for Runway of Dreams New York Fashion Week 2020 and Atlantic City Fashion Week.[215] Strobel has been featured in Forbes, on The Today Show, Good Morning America, by Rihanna's Fenty Beauty, Lady Gaga's Kindness Channel, and many more.[215][216] She is also a public speaker and gives a presentation called #TheGraceEffect about what it is like to live with Down syndrome.[217][216]
Television and film
- Life Goes On is an American drama television series that aired on ABC from September 12, 1989, to May 23, 1993.[218] The show centers on the Thatcher family living in suburban Chicago: Drew, his wife Libby, and their children Paige, Rebecca and Charles. Charles, called Corky on the show and portrayed by Chris Burke, was the first major character on a television series with Down syndrome.[219] Burke's revolutionary role conveyed a realistic portrayal of people with Down syndrome and changed the way audiences viewed people with disabilities.[220]
- Struck by Lightning, an Australian film by Jerzy Domaradzki and starring Garry McDonald, is a comedy-drama depicting the efforts by a newly appointed physical education teacher to introduce soccer to a specialized school for youths with Down syndrome.
- Champions (2023) is a film starring 4 main actors with Down syndrome: Madison Tevlin, Kevin Iannucci, Matthew Von Der Ahe and James Day Keith.[221] It is an American sports comedy film directed by Bobby Farrelly in his solo directorial debut, from a screenplay written by Mark Rizzo. The film stars Woody Harrelson as a temperamental minor-league basketball coach who after an arrest must coach a team of players with intellectual disabilities as community service; Kaitlin Olson, Ernie Hudson, and Cheech Marin also star.
- Born This Way is an American reality television series produced by Bunim/Murray Productions featuring seven adults with Down syndrome with work hard to achieve goals and overcome obstacles.[222] The show received a Television Academy Honor in 2016.[223]
- comedy-drama film written and directed by Tyler Nilson and Michael Schwartz, in their directorial film debut, and starring Zack Gottsagen, Shia LaBeouf, Dakota Johnson and John Hawkes.[224] The plot follows a young man with Down syndrome who escapes from an assisted living facility, in order to follow his dream of being a wrestler, and befriends a wayward fisherman on the run. As the two men form a rapid bond, a social worker attempts to track them.[225]
Music
- The Devo song "Mongoloid" is about someone with Down syndrome.
- The Amateur Transplants song "Your Baby" is about a fetus with Down syndrome.
Toys
See also
- List of syndromes
- Characteristics of syndromic ASD conditions
Notes
- ^ Using the traditional numbering; the current numbering scheme retains human chromosome numbers, using 2A and 2B instead of 2 and 3 to refer to the two chromosomes that fused into chromosome 2 in humans.[198]
References
- ^ PMID 20632187.
- ^ a b "What causes Down syndrome?". National Institute of Child Health and Human Development. U.S. National Institutes of Health. 2014-01-17. Archived from the original on 5 January 2016. Retrieved 6 January 2016.
- ^ S2CID 10403507.
- ^ PMID 11943789.
- ^ "Down syndrome – Symptoms and causes". Mayo Clinic. Retrieved 17 March 2019.
- ^ a b "How do health care providers diagnose Down syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2014-01-17. Archived from the original on 7 March 2016. Retrieved 4 March 2016.
- ^ S2CID 33257578.
- ^ a b c "Facts About Down Syndrome". National Association for Down Syndrome. Archived from the original on 3 April 2012. Retrieved 20 March 2012.
- ^ PMID 23381164.
- ^ ISBN 978-1-4377-0755-7.
- ^ PMID 27733282.
- ^ "What are common symptoms of Down syndrome?". NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development. 31 January 2017. Retrieved 28 March 2023.
- ^ a b c d "Facts about Down Syndrome | CDC". Centers for Disease Control and Prevention. 2021-04-06. Retrieved 2023-03-31.
- ^ a b "About Down Syndrome | National Down Syndrome Society (NDSS)". ndss.org. Retrieved 2023-03-28.
- ^ ISBN 978-0-07-162167-0.
- ^ "Facts About Down Syndrome". National Association for Down Syndrome. Retrieved 2023-04-01.
- ^ "LSUHSC School of Medicine". www.medschool.lsuhsc.edu. Retrieved 2023-04-01.
- ^ a b "The Genetics of Down's Syndrome". www.intellectualdisability.info. Retrieved 2023-04-01.
- PMID 30924894.
- ^ PMID 22418958.
- ^ S2CID 29637272.
- ^ "Down Syndrome: Other FAQs". 2014-01-17. Archived from the original on 6 January 2016. Retrieved 6 January 2016.
- ^ ISBN 978-0-19-971207-6. Archivedfrom the original on 2017-01-23.
- ^ a b Szabo L (May 9, 2013). "Life with Down syndrome is full of possibilities". USA Today. Archived from the original on 8 January 2014. Retrieved 7 February 2014.
- PMID 32560141.
- PMID 27733281.
- PMID 25530442.
- ^ PMID 22789577.
- ^ ISBN 978-1-4381-1950-2.
- ISBN 978-1-134-67335-3. Archivedfrom the original on 2017-01-23.
- PMID 20590998.
- ISBN 978-1-934559-86-4. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-0-521-03809-6. Archivedfrom the original on 2017-01-23.
- ISBN 978-0-7817-7030-9. Archivedfrom the original on 2017-01-23.
- ISBN 978-0-7817-5399-9. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-0-7817-6334-9. Archivedfrom the original on 2017-01-23.
- S2CID 45941755.
- ISBN 978-0-521-61734-5. Archivedfrom the original on 2017-01-23.
- ^ Kumin L. Resource Guide to Oral Motor Skill Difficulties in Children with Down Syndrome (PDF). Loyola College of Maryland.
- S2CID 248252638.
- ^ S2CID 219586275.
- ISBN 978-1-4377-3600-7. Archivedfrom the original on 2017-01-23.
- PMID 31044152.
- ^ "Early Development for Children with Down Syndrome". INHS Cambridgeshire Community Services NHS Trust. Retrieved 28 March 2023.
- S2CID 58592265.
- ^ PMID 22471356.
- ISBN 978-1-55766-581-2. Archivedfrom the original on 2017-01-23.
- PMID 23506141.
- PMID 34970162.
- PMID 23275397.
- ISBN 978-1-890627-65-2.
- ISBN 978-1-4042-0695-3.
- ISBN 978-1-4511-1656-4. Archivedfrom the original on 2017-01-23.
- ^ PMID 22588039.
- ISBN 978-1-4381-1950-2.
- ^ ISBN 978-0-07-148480-0.
- ^ ISBN 978-1-60623-990-2. Archivedfrom the original on 2017-01-23.
- ISBN 978-1-84800-249-4. Archivedfrom the original on 2017-01-23.
- ^ S2CID 211087826.
- ISBN 978-0-12-374477-7. Archivedfrom the original on 12 May 2015.
- ^ PMID 29587359.
- PMID 19357394.
- ^ PMID 22867885.
- PMID 27285583.
- PMID 36035173.
- ^ S2CID 248431139.
- S2CID 5958598.
- ^ PMID 27510823.
- ^ S2CID 37593917.
- ISBN 978-1-4419-0711-0. Archivedfrom the original on 2015-07-04.
- PMID 23099267.
- S2CID 11890549.
- ^ ISBN 978-0443-10125-0.
- ^ ISBN 978-1-4160-2400-2.
- ^ ISBN 978-0-323-02450-1.
- ^ ISBN 978-0-323-01723-7.
- ^ ISBN 978-1-4557-0262-6.
- PMID 2533267.
- PMID 9951142.
- ^ S2CID 32384231.
- ^ ISBN 978-1-61705-004-6. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-1-4511-8132-6. Archivedfrom the original on 2017-01-23.
- ^ a b "What is Down Syndrome? | National Down Syndrome Society". NDSS. Retrieved 2022-03-24.
- ^ "Down syndrome - Symptoms and causes". Mayo Clinic. Retrieved 2022-03-24.
- PMID 25881878.
- ^ PMID 21878459.
- ^ "Birth Defects, Down Syndrome". National Center on Birth Defects and Developmental Disabilities. US: Centers for Disease Control and Prevention. 2013-11-06. Archived from the original on 2017-07-28.
- ISBN 978-93-5090-428-2. Archivedfrom the original on 2017-01-23.
- ISBN 978-0-470-17419-7. Archivedfrom the original on 2017-01-23.
- ISBN 978-1-59745-405-6. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-0-387-21744-4. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-1-285-52847-2. Archivedfrom the original on 2017-01-23.
- ISBN 978-1-4160-4907-4. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-0-7817-5104-9. Archivedfrom the original on 2017-01-23.
- ISBN 978-0-19-974915-7. Archivedfrom the original on 2017-01-23.
- ^ "Genetics of Down syndrome". Archived from the original on 2011-05-27. Retrieved 2011-05-29.
- ISBN 978-0-07-142292-5.
- S2CID 3663890.
- ^ PMID 23201920.
- PMID 25678027.
- ^ PMID 17197615.
- ^ National Institute for Health and Clinical Excellence (2008). "CG62: Antenatal care". London: National Institute for Health and Clinical Excellence. Archived from the original on 26 January 2013. Retrieved 16 February 2013.
- ^ PMID 23208748.
- S2CID 24592539.
- ^ S2CID 37417471.
- ^ PMID 22696388. Archived from the original(PDF) on December 9, 2019. Retrieved January 7, 2019.
- ^ PMID 23396607.
- PMID 22094923.
- ^ S2CID 42116198. Archived from the original(PDF) on 2012-03-19.
- ^ "Noninvasive prenatal diagnosis of fetal aneuploidy using cell-free fetal nucleic acids in maternal blood" (PDF). United Healthcare Oxford. Archived (PDF) from the original on 7 March 2014. Retrieved 25 March 2014.
- PMID 24571752.
- ^ PMID 20051662.
- ^ Halliday JV, Messerlian GM, Palomaki GE. "Patient education: Should I have a screening test for Down syndrome during pregnancy? (Beyond the Basics)". UpToDate.
- ^ a b Graham R (2018-05-31). "How Down Syndrome Is Redefining the Abortion Debate". Slate Magazine. Retrieved 2019-01-09.
- PMID 22432488.
- ^ PMID 36759877.
- ^ "What are common treatments for Down syndrome?". NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development. 31 January 2017. Retrieved 28 March 2023.
- ^ PMID 21788214.
- PMID 17326116.
- ^ "Inclusion: Educating Students with Down Syndrome with Their Non-Disabled Peers" (PDF). National Down Syndrome Society. Archived (PDF) from the original on 27 November 2014. Retrieved 5 February 2014.
- ISBN 978-0-313-01448-2. Archivedfrom the original on 2017-01-23.
- ^ "Development and learning for people with Down syndrome". Archived from the original on 2016-11-19. Retrieved 2016-11-18.
- ^ "Early Intervention – National Down Syndrome Society". www.ndss.org. Archived from the original on 2016-11-19. Retrieved 2016-11-18.
- PMID 19160343.
- PMID 19160328.
- PMID 19160344.
- PMID 19160342.
- ^ a b "European Down Syndrome Association news" (PDF). European Down Syndrome Association. 2006. Archived from the original (PDF) on 22 February 2014. Retrieved 7 February 2014.
- ^ "Number of 14- through 21-year-old students served under Individuals with Disabilities Education Act, Part B, who exited school, by exit reason, age, and type of disability: 2007–08 and 2008–09". National Center for Education Statistics. Archived from the original on 22 February 2014. Retrieved 7 February 2014.
- ^ "Down's Syndrome: Employment Barriers". Rehab Care International. Archived from the original on 22 February 2014. Retrieved 7 February 2014.
- ISBN 978-0-12-374477-7. Archivedfrom the original on 12 May 2015.
- ^ "Survival Rates Improving for Patients with Down Syndrome and Congenital Heart Defects". CardioSmart. Retrieved 2023-03-31.
- ^ "Where Should I Go From Here?". National Down Syndrome Society. Archived from the original on 22 December 2015. Retrieved 19 December 2015.
- S2CID 1541253.
- PMID 20878909.
- ISBN 978-1-107-02448-9. Archivedfrom the original on 2017-01-23.
- S2CID 8821338.
We have identified a 16th-century Flemish Nativity painting in which one angelic figure appears distinctly different from other individuals in the painting with an appearance of Down syndrome.
- ^ Down JL (1866). "Observations on an ethnic classification of idiots". Clinical Lecture Reports, London Hospital. 3: 259–62. Archived from the original on 2006-06-15. Retrieved 2006-07-14.
- ISBN 978-1-85315-374-7.
- ^ S2CID 12945876.
- ISBN 978-1-4511-8132-6.
- ISBN 978-0-393-34083-9.
- ISBN 978-1-4008-3860-8.
- ^ S2CID 8541289.
- PMID 153994.
- ISBN 978-1-4780-1121-7.
- ^ "Genetics study shines light on early periods of Ireland's human history". www.rte.ie. Raidió Teilifís Éireann. 17 June 2020. Retrieved 17 June 2020.
- S2CID 27716271.
- ISBN 9781438119502. Retrieved 20 March 2020.
There is also very little representation of Down syndrome in art over the centuries. Only a few paintings, such as the sixteenth century Flemish painting The Adoration of the Christ Child, have been identified in which characters appear appear to have facial features and other characteristics typical of Down syndrome.
- ISBN 978-1-4381-1950-2.
- ISBN 978-0-19-956793-5. Archivedfrom the original on 28 May 2013. Retrieved 25 August 2012.
- ISBN 978-0-19-956793-5. Archivedfrom the original on 28 May 2013. Retrieved 25 August 2012.
- ^ "Trisomie: une pionnière intimidée". Le Monde (in French). Feb 3, 2014. Retrieved 25 March 2014.
- (PDF) from the original on 2017-02-02.
- PMID 24531949.
- ISBN 978-0-19-956793-5. Archivedfrom the original on 28 May 2013. Retrieved 25 August 2012.
- ISBN 978-0-8151-9098-1.
- ^ "About Down Syndrome". National Down Syndrome Society. Retrieved 28 March 2023.
- S2CID 37636187.
- ISBN 978-1-84694-613-4. Archivedfrom the original on 2017-01-23.
- ISBN 978-0-7817-5760-7.
- ^ S2CID 2017130.
- PMID 33848430.
- PMID 18355783.
- S2CID 45181967.
- PMID 17299736.
- S2CID 13897639.
- S2CID 7373407.
- ^ "Halifax mom questions Down syndrome suppression". Archived from the original on 2015-11-05. Retrieved 2015-09-26.
- ^ Belkin L (2010-01-11). "Should Down Syndrome Be Cured?". Archived from the original on 2015-04-25. Retrieved 2015-09-26.
- ^ PMID 12587137.
- ^ S2CID 38939256.
- ^ ISBN 978-1-59884-867-0. Archivedfrom the original on 2017-01-23.
- ^ PMID 24027674.
- ISBN 978-1-84619-161-9. Archivedfrom the original on 2017-01-23.
- ^ ISBN 978-0-19-161978-6. Archivedfrom the original on 2017-01-23.
- ^ "Timeline". MENCAP. Archived from the original on 17 June 2011. Retrieved 2 February 2014.
- ^ "National Down Syndrome Organizations in the U.S." Global Down Syndrome Foundation. 2012-02-21. Archived from the original on 18 January 2014. Retrieved 2 February 2014.
- ^ Vet C (July 24, 2019). "Religious Sisters with Down syndrome: the joy of shared contemplative life". Vatican News. Retrieved July 31, 2019.
- ^ a b "World Down Syndrome Day". Down Syndrome International. Archived from the original on 14 March 2014. Retrieved 2 February 2014.
- ISBN 978-0-231-52084-3. Archivedfrom the original on 2017-01-23.
- ^ "Special21 celebrates World Down Syndrome Day in Albufeira". Portugal Resident. March 25, 2022. Retrieved March 13, 2024.
- ^ "Algarve swimmer with Down syndrome breaks world record". Portugal Resident. February 27, 2019. Retrieved March 13, 2024.
- ^ "Special21 About Us". Special21.org. Retrieved March 13, 2024.
- ^ Liam Morgan (January 12, 2022). "IPC urged to allow greater numbers of athletes with Down's syndrome to compete at Paralympics". Insidethegames.biz. Retrieved March 2, 2024.
- ^ Liam Llewellyn (November 21, 2022). "Paralympics faces calls for Down's syndrome category to ensure level playing field". Mirror. Retrieved February 10, 2024.
- ^ Ariel Bogle (August 29, 2016). "Athletes with Down syndrome fight for inclusion at the Paralympics". Mashable.com. Retrieved March 2, 2024.
- ^ Rebecca Williams (March 11, 2022). "Paralympic dream for British Down syndrome swimmers at first national championships". Sky Sports. Retrieved March 2, 2024.
- ^ "Special21 celebrates World Down Syndrome Day in Albufeira". Portugal Resident. March 25, 2022. Retrieved March 2, 2024.
- ^ Emily Laurence. "Paralympics Participation swimmers with Down syndrome". Down Syndrome International Swimming Organisation. Retrieved March 2, 2024.
- ^ Liam Llewellyn (November 21, 2022). "Paralympics faces calls for Down's syndrome category to ensure level playing field". Mirror. Retrieved March 2, 2024.
- ^ PMID 23413375.
- S2CID 43840950.
- S2CID 87422171. Retrieved 25 December 2018.
- PMID 22541296.
- S2CID 24030020.
- PMID 21893967.
- .
- S2CID 5536021.
- ^ Hays B. "Second case of 'Down syndrome' in chimpanzees identified in Japan". UPI. Retrieved 11 May 2019.
- ^ Lawton A (2011-11-21). "Interview with Jamie Brewer". MediaMikes. Retrieved 2023-04-01.
- ^ Probus S, McNeal J (12 February 2015). "Meet The First Woman With Down Syndrome To Walk At Fashion Week". BuzzFeed News. Retrieved 2023-04-01.
- ^ "Puerto Rican model with Down Syndrome, Sofía Jirau is conquering the fashion world". HOLA. 2020-02-19. Retrieved 2023-04-01.
- ^ Mier T (17 February 2020). "NYFW: Model with Down Syndrome Says 'There Are No Limits'". Peoplemag. Retrieved 2023-04-01.
- ^ "Sofía Jirau, la modelo latina con síndrome de down que decantó en el Fashion Week de Nueva York". Vogue (in Mexican Spanish). 2020-02-13. Retrieved 2023-04-01.
- ^ V J. "Latina Model With Down Syndrome Walks at New York Fashion Week". The Mighty. Retrieved 2023-04-01.
- ^ Holender S (2022-02-17). "Meet Sofia Jirau, Victoria's Secret's 1st Model With Down Syndrome". Us Weekly. Retrieved 2023-04-01.
- ^ a b "About me". Sofia Jirau Model. Retrieved 2023-04-01.
- ^ "Nikic becomes first person with Down's syndrome to finish Ironman". BBC Sport. Retrieved 2023-04-01.
- ^ "2021 ESPYS award winners". ESPN.com. 2021-07-10. Retrieved 2023-04-01.
- ^ "About – Chris Nikic". chrisnikic.com. Retrieved 2023-04-01.
- ^ Abelman D (21 March 2021). "Grace Strobel Knows How Good Her Skin Looks". Allure. Retrieved 2023-04-01.
- ^ Obagi. "Obagi Announces Partnership with Down Syndrome Advocate, Grace Strobel, as new SKINCLUSION Ambassador and Face of New Obagi Clinical Cleanser". www.prnewswire.com (Press release). Retrieved 2023-04-01.
- ^ Obagi. "Obagi Clinical® Continues Collaboration with Down Syndrome Advocate Grace Strobel". www.prnewswire.com (Press release). Retrieved 2023-04-01.
- ^ a b LeBlanc DA (March 2022). "The Grace Effect: Local model is on a mission to change the world in style". WestNewsMagazine.com. Retrieved 2023-04-01.
- ^ a b Strobel G (2020-01-24). "#TheGraceEffect – Creating Ripples With Kindness And Respect". Channel Kindness. Retrieved 2023-04-01.
- ^ "Down syndrome advocate Grace Strobel on pushing boundaries: 'Let no one tell you what you can and cannot achieve'". Yahoo Life. 21 March 2022. Retrieved 2023-04-01.
- ^ Life Goes On (TV Series 1989–1993) - IMDb, retrieved 2023-04-01
- ^ "Life Goes On Actor Chris Burke on Being the First Primetime Television Star with Down Syndrome". Oprah.com. Archived from the original on 14 August 2015. Retrieved 2023-04-01.
- ^ Randle N (1990-12-20). "'Our Ticket to Acceptance' : Actor With Down's Syndrome on 'Life Goes On' Has Become Role Model for Many". Los Angeles Times. Retrieved 2023-04-01.
- ^ Champions (2023) - IMDb, retrieved 2023-04-01
- ^ "Born This Way". Television Academy. Retrieved 2023-04-01.
- ^ Heasley S (2015-11-16). "New TV Series Features Young Adults With Down Syndrome". Disability Scoop. Retrieved 2023-04-01.
- ^ The Peanut Butter Falcon (2019) - IMDb, retrieved 2023-04-01
- ^ "The Peanut Butter Falcon". Lionsgate. Retrieved 1 April 2023.
- ^ https://www.theguardian.com/society/2023/apr/25/barbie-doll-with-downs-syndrome-launched-by-mattel
Further reading
- Thompson SB (2000). "The Central Executive System in people with Down's syndrome and dementia". Clinical Gerontologist. 21 (3). Taylor & Francis (Routledge): 3–32. S2CID 218575706.
- Thompson SB (2000). "Investigation into Down's syndrome and dementia". Journal of the Association of Practitioners in Learning Disability. 17 (3): 10–14.
- Thompson SB (1999). "Examining dementia in Down's syndrome (DS): decline in social abilities in DS compared with other learning disabilities". Clinical Gerontologist. 20 (3). Taylor & Francis (Routledge): 23–44. OCLC 1106716083.
- Fox N (2021-11-26). "'World-leading' Down's syndrome bill clears first hurdle in Parliament". BBC News. Archived from the original on 2021-11-27. Retrieved 2021-11-27.
External links
- Down syndrome at Curlie
- Down's syndrome by the UK National Health Service