Down syndrome
In 2015, an estimated 5.4 million people worldwide were living with Down syndrome, also known as trisomy 21. The condition arises when a person carries all or part of a third copy of chromosome 21. It appears in about 1 in every 1,000 babies born worldwide, and in about 1 in 700 in the United States. That makes it the most common chromosomal abnormality. Yet the rate at which people with it are born differs from one country to the next. How does a single extra chromosome come about, and why did its cause stay hidden until 1959? What does it change in a body and a mind? And how have medicine, law and public attitudes shaped the lives of the people who have it?
Three copies of chromosome 21, instead of the usual two, define Down syndrome, and in most families nothing about the parents explains why. The parents are typically genetically normal. No known behavior or environmental factor changes the odds. A couple who have one child with the syndrome face about a 1 percent chance of a second, if both parents have normal karyotypes.
Three genetic forms exist. About 94 percent of cases are trisomy 21, with an extra copy of the chromosome in every cell. About 4 percent are translocation cases, where extra chromosome 21 material attaches to another chromosome. About 2 percent are mosaic, where only some cells carry the extra material.
Most trisomy 21 begins with nondisjunction, a failure of chromosome 21 to separate while an egg or sperm cell forms. The resulting cell carries 24 chromosomes. Joined with a typical cell from the other parent, it produces a baby with 47 chromosomes. About 88 percent of these cases trace to the mother, 8 percent to the father, and 3 percent to a division after egg and sperm have merged.
Translocation works differently. In a Robertsonian translocation, the long arm of chromosome 21 attaches to another chromosome, often chromosome 14. A parent who carries it is usually healthy in body and mind. Such a parent is, however, more likely to produce reproductive cells with extra chromosome 21 material. The chance of a child with Down syndrome is 15 percent when the mother carries the translocation, and under 5 percent when the father does. Unlike the other forms, this one has no connection to the mother's age. Some children inherit the translocation without having the syndrome, and they in turn face a higher chance of having affected children. This pattern is sometimes called familial Down syndrome.
Mosaic Down syndrome is the least common form. Children with it may share every feature of other children with the syndrome. They may also show fewer characteristics, because some or many of their cells carry the typical two copies. Those with the mosaic form usually have better outcomes, and their IQ scores tend to run 10 to 30 points higher.
At age 20, the chance of a pregnancy with Down syndrome is 1 in 1,441. At 30 it is 1 in 959, at 40 it is 1 in 84, and at 50 it is 1 in 44. Still, 70 percent of children with the syndrome are born to women aged 35 or younger, because younger women have far more babies. A father's older age raises the risk in women over 35, and about 10 percent of cases are linked to paternal age.
The extra chromosome raises the activity of a portion of the 310 genes on chromosome 21, by an estimated 50 percent. One suspected stretch lies at bands 21q22.1-q22.3, near genes for amyloid precursor protein and superoxide dismutase. Other research has not confirmed this region as critical. Amyloid precursor protein matters because its gene sits on chromosome 21, and by age 35 nearly everyone with the syndrome shows senile plaques and neurofibrillary tangles in the brain.
French psychiatrist Jean-Étienne Dominique Esquirol described some aspects of the condition in 1838, and French physician Édouard Séguin, in 1844, set it apart from cretinism. The English physician John Langdon Down then described it in 1862 as a distinct type of mental disability. His more widely published report of 1866 won him recognition as the first to describe it accurately as a unique medical condition, and the syndrome took his name.
Down believed the children's faces resembled those of what Blumenbach called the Mongoloid race, so he used the word "Mongoloid." He also drew an argument from it. If broad racial divisions were truly fixed, he reasoned, illness could not so closely imitate the features of another division. For him, this pointed to the unity of the human species.
Long before anyone saw a chromosome, observers had noticed three patterns. The syndrome appeared in every race, it was tied to older maternal age, and it rarely recurred in a family. Medical texts assumed a combination of inheritable factors that nobody had yet identified. Other theories blamed injuries sustained during birth.
The 1950s brought karyotype techniques, which made it possible to spot abnormalities in the number or shape of chromosomes. In 1959, Jérôme Lejeune reported that Down syndrome results from an extra chromosome. The work took place in the laboratory of Raymond Turpin at the Hôpital Trousseau in Paris. Both Lejeune and Marthe Gautier were Turpin's students. Lejeune's claim to the discovery has been disputed, and in 2014 the Scientific Council of the French Federation of Human Genetics unanimously gave its Grand Prize to Gautier for her role.
The finding sharpened concerns about a name built on race. In 1961, a group of nineteen scientists wrote that "mongolism" had "misleading connotations" and had become "an embarrassing term." The World Health Organization dropped it in 1965, after a request from the delegation of the Mongolian People's Republic. The word lingered until the late twentieth century and is now considered unacceptable. Europeans, in particular, came to favor the name trisomy 21.
In 1975, the United States National Institutes of Health convened a conference to standardize the name. It recommended replacing the possessive "Down's syndrome" with "Down syndrome." Both forms remain in use, and in the United Kingdom the NHS still writes "Down's syndrome" in its information for patients.
Genomic evidence reported in June 2020 identified Down syndrome in an infant buried before 3200 BC at the Poulnabrone dolmen in Ireland. It is the earliest known case. Written history is far less kind to such infants. In antiquity, many babies with disabilities were killed or abandoned.
Researchers also believe that some art shows the condition. One example is pottery from the pre-Columbian Tumaco-La Tolita culture, in what is now Colombia and Ecuador. Another is the 16th-century painting The Adoration of the Christ Child.
In 2024, scientists described the fossilized remains of a Neanderthal child who died at about age 6. Nicknamed Tina, the child had a malformation of the inner ear that occurs only in people with Down syndrome. It would have caused hearing loss and disabling vertigo. That Tina survived to such an age was taken as evidence of compassion and care beyond the mother among Neanderthals.
The condition is not limited to humans. In great apes, chromosome 22 corresponds to human chromosome 21, so the equivalent is trisomy 22. A common chimpanzee with the condition was observed in 1969, and a Bornean orangutan in 1979. Neither lived long.
A chimpanzee named Kanako, born around 1993 in Japan, was genetically tested in 2011 and found to have trisomy 22. She shared some symptoms common in humans with Down syndrome. Kanako was blind and relatively small, and aggressive group mates targeted her. She died in 2020 at the Kumamoto Sanctuary of Kyoto University, and nobody knows how common the condition is among chimpanzees.
Around 40 percent of newborns with Down syndrome have congenital heart disease. About 80 percent of those have an atrial or ventricular septal defect, and the atrial type is more common. Surgical repair may be needed as early as three months of age. Mitral valve problems grow common with age, even without a heart condition at birth. One benefit runs the other way, since people with Down syndrome have a lower risk of hardening of the arteries.
Hearing and vision disorders affect more than half of people with the syndrome. Hearing problems occur in 50 to 90 percent of children, often because of fluid in the middle ear and chronic ear infections that begin in the first year of life. Brushfield spots, small flecks on the edge of the iris, are present in 38 to 85 percent of individuals, and they need no treatment. Keratoconus, in which the cornea thins and bulges into a cone, may affect as many as 21 to 30 percent. Eye rubbing is a risk factor.
Leukemia is 10 to 15 times more common in children with Down syndrome. Acute lymphoblastic leukemia is 20 times more common, and the megakaryoblastic form of acute myeloid leukemia is 500 times more common. Many such cases follow a disorder of blood cell production that affects 3 to 10 percent of babies with the syndrome. It often resolves within three months of birth, though in about 10 percent of cases it later progresses to leukemia.
At the same time, people with Down syndrome have a lower risk of major solid cancers, including those of the lung, breast and cervix. The lowest relative rates are in people aged 50 or older. Tumor suppressor genes on chromosome 21 are thought to be the reason. Testicular germ cell cancer is the exception, and it occurs at a higher rate.
Thyroid problems occur in 20 to 50 percent of individuals, and an underactive thyroid is the most common form. Celiac disease affects about 7 to 20 percent. Hirschsprung's disease, a lack of nerve cells controlling the colon, occurs in 2 to 15 percent. Around half of people with the syndrome develop obstructive sleep apnea. Gum disease and early tooth loss are common, yet more alkaline saliva gives greater resistance to tooth decay.
Adults with Down syndrome average 154 cm in height for men and 142 cm for women. Males usually do not father children. Fertility is estimated at 30 to 50 percent in females, and without assisted reproductive technologies, around half of their children will also have the syndrome.
Much of the medical picture is still unsettled. Researchers are studying gene therapy delivered through stem cells, antioxidants and memantine, often using an animal model called the Ts65Dn mouse.
Guidelines say screening for Down syndrome should be offered to every pregnant woman, whatever her age. No single test is definitive. Measuring the fold of fluid at the back of the fetal neck, called nuchal translucency, finds 75 to 80 percent of cases and gives a false alarm in 6 percent. The combined test at 10 to 13.5 weeks detects 82 to 87 percent. The integrated test at 15 to 20 weeks detects 94 to 96 percent, each with a 5 percent false-positive rate.
Testing the mother's blood for fetal DNA, available from 10 weeks, detects 96 to 100 percent with a false-positive rate of just 0.3 percent. Even so, a positive screen must be confirmed. Imagine Down syndrome occurs in one in 500 pregnancies, the test finds 90 percent of cases, and it falsely flags 5 percent. Of 28 women who test positive, only one will have a fetus with the syndrome. At a 2 percent false-positive rate, only one of 11 would.
Confirmation comes from amniocentesis or chorionic villus sampling. Both carry a miscarriage risk of 0.5 to 1 percent. The risk grows the earlier the procedure is done, so amniocentesis is not recommended before 15 weeks, and chorionic villus sampling not before 10 weeks. Sampling before 10 weeks may also raise the risk of limb problems in the baby.
About 92 percent of pregnancies in Europe with a diagnosis of Down syndrome are terminated. Iceland and Denmark, where screening is commonplace, now have almost no one with the syndrome. In the United States, about 75 percent are terminated, with surveys ranging from 61 to 93 percent. In the 1950s, the United States saw 2 live births per 1,000 with Down syndrome. Today Norway records about 1.1 per 1,000. More children are born with the syndrome in countries where abortion is not allowed, and where pregnancy more often occurs later in life.
When asked beforehand, 23 to 33 percent of women said they would end a pregnancy after a positive test. Among high-risk pregnant women, 46 to 86 percent said yes. Among women who had screened positive, 89 to 97 percent did.
Ethical disagreement runs deep. Some bioethicists find it reasonable for parents to select the child with the highest well-being, and critics reply that this values people with disabilities less. Some parents argue that eliminating Down syndrome amounts to genocide, and some opponents of screening call it a form of eugenics. The disability rights movement has no position on screening, though some members consider testing and abortion discriminatory. Religious views differ as well. Some Protestant denominations in the United States accept abortion for Down syndrome, while Orthodox Christianity and Roman Catholicism do not. In one group of 40 American mothers who already had a child with the syndrome, half agreed to screening in the next pregnancy.
Speech therapy is recommended to begin around nine months of age. Children with Down syndrome generally understand language better than they can speak it, and babbling typically emerges around 15 months. Between 10 and 45 percent develop a stutter or rapid, irregular speech. Because they usually have good hand-eye coordination, sign language is a helpful tool. Many learn better visually, and drawing can support language and reading.
Crawling typically arrives between 8 and 22 months, against 6 to 12 months for other children. Independent walking usually comes between 1 and 4 years, against 9 to 18 months. Most people with the syndrome have mild intellectual disability (IQ 50-69) or moderate disability (IQ 35-50), and a few have severe difficulties (IQ 20-35). As adults, their mental abilities are typically similar to those of an eight- or nine-year-old. Their emotional and social awareness, however, is very high.
Physical, speech and occupational therapy each play a part. Physical therapy builds motor development and teaches children to interact with their surroundings. Occupational therapy builds skills for later independence. A 2023 systematic review found that combined aerobic and resistance training improves muscle strength, though the certainty of the evidence was low to moderate. Screening runs through childhood, with a sleep study at 3 to 4 years and neck X-rays between 3 and 5.
In the United States, the Individuals with Disabilities Education Act of 1975 generally requires public schools to admit students with Down syndrome. Some children learn in typical classes with adjusted curricula, while others need specialized education. In Sweden, only 5 to 15 percent of children with the syndrome attend regular school. Of Americans with intellectual disability who attended high school, about 40 percent graduated.
About 20 percent of adults in the United States do some paid work, often in sheltered settings. In Sweden, fewer than 1 percent hold regular jobs. Many live semi-independently, though they often need help with financial, medical and legal matters.
In 1912, life expectancy for a person with Down syndrome was 12 years. By the 1980s it had reached 25, and in the 2000s it reached 50 to 60 in the developed world. Better care for heart and gastrointestinal problems drove the gain. Annual deaths worldwide fell from 43,000 in 1990 to 27,000 in 2015. Around the turn of the century, 85 percent of people without heart problems survived to at least 10 years. For those with heart disease the figure was 60 percent.
Aging brings its own risks. Seizures occur in 5 to 10 percent of children and up to 50 percent of adults. About 15 percent of those who live to 40 or beyond develop Alzheimer's disease, and 50 to 70 percent of those who reach 60 have it. Depression and anxiety may emerge in early adulthood. After age 30, some people lose the ability to speak.
In the 20th century, 33 of the then 48 US states and several other countries began programs of forced sterilization of people with Down syndrome and comparable disabilities. Many were institutionalized, and few of their medical problems were treated. Under Action T4 in Nazi Germany, the systematic murder of people with Down syndrome became public policy.
After the Second World War, families began organizing. Judy Fryd founded the Royal Society for Handicapped Children and Adults in the UK in 1946. Kobato Kai followed in Japan in 1964, and Kathryn McGee and others founded the National Down Syndrome Congress in the United States in 1973. The National Down Syndrome Society arrived in 1979. In 1985, the first Roman Catholic order of nuns for women with Down syndrome, the Little Sisters Disciples of the Lamb, was founded in France.
The first World Down Syndrome Day was held on the 21st of March 2006. The day number echoes chromosome 21, and the month echoes trisomy. The United Nations General Assembly recognized the day in 2011.
On television, Life Goes On ran on ABC from the 12th of September 1989 to the 23rd of May 1993. Chris Burke played Charles, called Corky, the first major character with Down syndrome on a television series. Born This Way, a reality series about seven adults with the syndrome, received a Television Academy Honor in 2016. The film Champions, released in 2023, starred four actors with Down syndrome, among them Madison Tevlin. The Peanut Butter Falcon, from 2019, starred Zack Gottsagen as a young man who escapes an assisted living facility to pursue wrestling.
In February 2015, actress Jamie Brewer became the first woman with Down syndrome to walk the red carpet at New York Fashion Week, for designer Carrie Hammer. Sofía Jirau, a Puerto Rican model, made her New York Fashion Week debut in February 2020. In February 2022 she became the first model with Down syndrome hired by Victoria's Secret. British actor Tommy Jessop was the first person with Down syndrome to play Hamlet professionally, and he helped create the Down Syndrome Act 2022. Chris Nikic became the first person with Down syndrome to finish an Ironman Triathlon, and he won the Jimmy V Award for Perseverance at the 2021 ESPY Awards. In 2023, Mattel released a Barbie doll with characteristics of a person with Down syndrome.
The Paralympics remain a sore point. Special21.org was founded in 2015 after swimmer Filipe Santos set a world record in the 50m butterfly yet could not compete at the Paralympic Games. International Paralympic Committee classification codes are based on a single impairment, while Down syndrome involves both physical and intellectual ones. Swimmers may enter the S14 intellectual impairment category, but they are often outmatched by the physicality of their opponents. Advocacy groups continue to lobby for a distinct category, and the question remains unresolved.
Updated
Common questions
What causes Down syndrome?
Down syndrome is caused by having all or part of a third copy of chromosome 21. In about 94 percent of cases this is trisomy 21, with an extra copy in every cell, usually from a failure of chromosome 21 to separate during egg or sperm formation.
How common is Down syndrome?
Down syndrome occurs in about 1 in 1,000 babies born worldwide and about 1 in 700 in the United States. It is the most common chromosomal abnormality, and an estimated 5.4 million people worldwide had it in 2015.
Does the mother's age affect the chance of Down syndrome?
Yes, the chance rises with maternal age, from 1 in 1,441 at age 20 to 1 in 84 at age 40 and 1 in 44 at age 50. Even so, 70 percent of children with Down syndrome are born to women aged 35 or younger.
Who discovered Down syndrome and when was the cause found?
English physician John Langdon Down described it as a distinct condition in 1862 and again in a more widely published report in 1866. Jérôme Lejeune reported the extra chromosome in 1959, and Marthe Gautier received a Grand Prize in 2014 for her role in the discovery.
What is the life expectancy for someone with Down syndrome?
Life expectancy is around 50 to 60 years in the developed world with proper health care. It was 12 years in 1912 and 25 years in the 1980s, with better heart and gastrointestinal care driving the increase.
How is Down syndrome diagnosed before birth?
Screening with ultrasound and blood tests can indicate a high chance of Down syndrome. Amniocentesis or chorionic villus sampling is then required to confirm the diagnosis, and these procedures carry a miscarriage risk of 0.5 to 1 percent.
Why is Down syndrome no longer called mongolism?
The old term rested on a racial comparison and was criticized in 1961 by nineteen scientists as an embarrassing term. The World Health Organization dropped it in 1965 after a request from the delegation of the Mongolian People's Republic.
When is World Down Syndrome Day?
World Down Syndrome Day is held on the 21st of March. It was first held in 2006 and was recognized by the United Nations General Assembly in 2011.
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- 121What are common treatments for Down syndrome?31 January 2017
- 122JournalHealth supervision for children with Down syndromeBull MJ — August 2011
- 123JournalLanguage and communication development in Down syndromeRoberts JE, Price J, Malkin C — 2007
- 124Inclusion: Educating Students with Down Syndrome with Their Non-Disabled PeersNational Down Syndrome Society
- 125BookEarly childhood education an international encyclopediaNew RS, Cochran M — Praeger Publishers — 2007
- 128JournalEffects of therapeutic exercise on the motor function of adults with Down syndrome: a systematic review and meta-analysisMelanie Méndez-Martínez et al. — 2023-12-11
- 129JournalTherapeutic exercise to improve motor function among children with Down Syndrome aged 0 to 3 years: a systematic literature review and meta-analysisEliana-Isabel Rodríguez-Grande et al. — 2022-07-29
- 130JournalThe otolaryngologist's approach to the patient with Down syndromeRodman R, Pine HS — June 2012
- 131JournalMemantine for dementia in people with Down syndromeMohan M, Bennett C, Carpenter PK — January 2009
- 132JournalDonepezil for dementia in people with Down syndromeMohan M, Carpenter PK, Bennett C — January 2009
- 133JournalRivastigmine for dementia in people with Down syndromeMohan M, Bennett C, Carpenter PK — January 2009
- 134JournalGalantamine for dementia in people with Down syndromeMohan M, Bennett C, Carpenter PK — January 2009
- 138BookPediatricsNelson MR — Demos Medical — 2011
- 139BookHealth Issues Among Persons With Down SyndromeUrbano R — Academic Press — 9 September 2010
- 142JournalRevised estimates of the maternal age specific live birth prevalence of Down's syndromeMorris JK, Mutton DE, Alberman E — 2002
- 143JournalGlobal and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, Abraham J, Adair T, Aggarwal R, Ahn SY, Alvarado M, Anderson HR, Anderson LM, Andrews KG, Atkinson C, Baddour LM, Barker-Collo S, Bartels DH, Bell ML, Benjamin EJ, Bennett D, Bhalla K, Bikbov B, Bin Abdulhak A, Birbeck G, Blyth F, Bolliger I, Boufous S, Bucello C, Burch M, Burney P, Carapetis J, Chen H, Chou D, Chugh SS, Coffeng LE, Colan SD, Colquhoun S, Colson KE, Condon J, Connor MD, Cooper LT, Corriere M, Cortinovis M, de Vaccaro KC, Couser W, Cowie BC, Criqui MH, Cross M, Dabhadkar KC, Dahodwala N, De Leo D, Degenhardt L, Delossantos A, Denenberg J, Des Jarlais DC, Dharmaratne SD, Dorsey ER, Driscoll T, Duber H, Ebel B, Erwin PJ, Espindola P, Ezzati M, Feigin V, Flaxman AD, Forouzanfar MH, Fowkes FG, Franklin R, Fransen M, Freeman MK, Gabriel SE, Gakidou E, Gaspari F, Gillum RF, Gonzalez-Medina D, Halasa YA, Haring D, Harrison JE, Havmoeller R, Hay RJ, Hoen B, Hotez PJ, Hoy D, Jacobsen KH, James SL, Jasrasaria R, Jayaraman S, Johns N, Karthikeyan G, Kassebaum N, Keren A, Khoo JP, Knowlton LM, Kobusingye O, Koranteng A, Krishnamurthi R, Lipnick M, Lipshultz SE, Ohno SL, Mabweijano J, MacIntyre MF, Mallinger L, March L, Marks GB, Marks R, Matsumori A, Matzopoulos R, Mayosi BM, McAnulty JH, McDermott MM, McGrath J, Mensah GA, Merriman TR, Michaud C, Miller M, Miller TR, Mock C, Mocumbi AO, Mokdad AA, Moran A, Mulholland K, Nair MN, Naldi L, Narayan KM, Nasseri K, Norman P, O'Donnell M, Omer SB, Ortblad K, Osborne R, Ozgediz D, Pahari B, Pandian JD, Rivero AP, Padilla RP, Perez-Ruiz F, Perico N, Phillips D, Pierce K, Pope CA, Porrini E, Pourmalek F, Raju M, Ranganathan D, Rehm JT, Rein DB, Remuzzi G, Rivara FP, Roberts T, De León FR, Rosenfeld LC, Rushton L, Sacco RL, Salomon JA, Sampson U, Sanman E, Schwebel DC, Segui-Gomez M, Shepard DS, Singh D, Singleton J, Sliwa K, Smith E, Steer A, Taylor JA, Thomas B, Tleyjeh IM, Towbin JA, Truelsen T, Undurraga EA, Venketasubramanian N, Vijayakumar L, Vos T, Wagner GR, Wang M, Wang W, Watt K, Weinstock MA, Weintraub R, Wilkinson JD, Woolf AD, Wulf S, Yeh PH, Yip P, Zabetian A, Zheng ZJ, Lopez AD, Murray CJ, AlMazroa MA, Memish ZA — December 2012
- 144JournalUpdated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A — December 2010
- 145BookChild neurologyMenkes JH, Sarnat HB — Lippincott Williams & Wilkins — 2005
- 146BookPaternal influences on human reproductive successFisch H — Cambridge University Press — 2013
- 147JournalAn angel with Down syndrome in a sixteenth century Flemish Nativity paintingLevitas AS, Reid CS — February 2003
- 148JournalObservations on an ethnic classification of idiotsDown JL — 1866
- 149BookJohn Langdon Down, 1828–1896Conor WO — Royal Society of Medicine Press — 1998
- 150JournalDown syndrome: comments and reflections on the 50th anniversary of Lejeune's discoveryNeri G, Opitz JM — December 2009
- 151BookEssentials of Rubin's PathologyReisner H — Lippincott Williams & Wilkins — 2013
- 152BookThe Panda's Thumb: More Reflections in Natural HistoryGould S — W. W. Norton & Company — 2010
- 153BookBecoming Yellow: A Short History of Racial ThinkingKeevak M — Princeton University Press — 2011
- 154JournalOn the diagnostic term "Down's disease"Howard-Jones N — January 1979
- 155BookThe Whites are Enemies of Heaven: Climate Caucasianism and Asian Ecological ProtectionDriscoll MW — Duke University Press — 2020
- 156Genetics study shines light on early periods of Ireland's human historyRaidió Teilifís Éireann — 17 June 2020
- 157JournalGenetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-EcuadorBernal JE, Briceno I — September 2006
- 158BookDown SyndromeEvans-Martin FF — Infobase Publishing — 2009
- 160BookDowns: The history of a disabilityWright D — Oxford University Press — 25 August 2011
- 161NewsTrisomie: une pionnière intimidée3 February 2014
- 162JournalFiftieth anniversary of trisomy 21: returning to a discoveryGautier M, Harper PS — 2009
- 163JournalHistory of science. After more than 50 years, a dispute over Down syndrome discoveryPain E — February 2014
- 164BookCongenital MalformationsWarkany J — Year Book Medical Publishers, Inc — 1971
- 166JournalClassification and nomenclature of morphological defectsMarch 1975
- 167BookThe politics of Down syndromeSmith K — Zero — 2011
- 168Down's syndrome23 October 2017
- 169JournalFifty years of evolution of the term Down's syndromeRodríguez-Hernández ML, Montoya E — July 2011
- 170BookMedical genetics for the modern clinician.Westman JS — Lippincott Williams & Wilkins — 2005
- 171JournalEthical considerations in first-trimester Down syndrome risk assessmentChervenak FA, McCullough LB — April 2010
- 172JournalThe Emergence and Global Spread of Noninvasive Prenatal TestingVardit Ravitsky et al. — 2021-08-31
- 173JournalEthical considerations of early (first vs. second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testingSharma G, McCullough LB, Chervenak FA — February 2007
- 174JournalThe moral obligation to create children with the best chance of the best lifeSavulescu J, Kahane G — June 2009
- 175JournalThe fallacy of the Principle of Procreative BeneficenceBennett R — June 2009
- 177Should Down Syndrome Be Cured?Belkin L — 2010-01-11
- 178JournalDisability rights critique of prenatal genetic testing: reflections and recommendationsParens E, Asch A — 2003
- 179JournalParental autonomy and the obligation not to harm one's child geneticallyGreen RM — Spring 1997
- 180BookEncyclopedia of religious controversies in the United States.Leonard BJ, Crainshaw JY — ABC-CLIO — 2013
- 181BookWoman-centered care in pregnancy and childbirthShields SG, Candib LM — Radcliffe Pub. — 2010
- 182BookDowns: The history of a disabilityWright D — Oxford University Press — 2011
- 183Timeline
- 184National Down Syndrome Organizations in the U.S.2012-02-21
- 185NewsReligious Sisters with Down syndrome: the joy of shared contemplative lifeVet C — Vatican News — 24 July 2019
- 186Home - Down Syndrome International4 November 2022
- 187Organisation members - Down Syndrome International7 July 2023
- 189BookThe global and the intimate feminism in our timePratt G, Rosner V — Columbia University Press — 2012
- 190Special21 celebrates World Down Syndrome Day in AlbufeiraResident P — 25 March 2022
- 191Algarve swimmer with Down syndrome breaks world recordResident P — 27 February 2019
- 192Special21 About UsSpecial21.org
- 193IPC urged to allow greater numbers of athletes with Down's syndrome to compete at ParalympicsLiam Morgan — Insidethegames.biz — 12 January 2022
- 194Paralympics faces calls for Down's syndrome category to ensure level playing fieldLiam Llewellyn — Mirror — 21 November 2022
- 195Athletes with Down syndrome fight for inclusion at the ParalympicsAriel Bogle — Mashable.com — 29 August 2016
- 196Paralympic dream for British Down syndrome swimmers at first national championshipsRebecca Williams — Sky Sports — 11 March 2022
- 197Paralympics Participation swimmers with Down syndromeEmily Laurence — Down Syndrome International Swimming Organisation
- 198BookDown Syndrome: From Understanding the Neurobiology to TherapyFillat C, Altafaj X — 2012
- 199JournalConcise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic diseaseBriggs JA, Mason EA, Ovchinnikov DA, Wells CA, Wolvetang EJ — March 2013
- 200JournalResearchers turn off Down's syndrome genesMole B — 2013
- 201JournalProspects for improving brain function in individuals with Down syndromeCosta AC, Scott-McKean JJ — September 2013
- 202JournalOn the promise of pharmacotherapies targeted at cognitive and neurodegenerative components of Down syndromeCosta AC — 2011
- 203JournalNew therapies for treating Down syndrome require quality of life measurementGoodman MJ, Brixner DI — April 2013
- 204JournalThe evolution of human chromosome 2.Sansom C — October 2015
- 205JournalChimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzeeHirata S, Hirai H, Nogami E, Morimura N, Udono T — Springer — April 2017
- 207JournalChimpanzee KanakoSatoshi Hirata — September 2020
- 208JournalThe child who lived: Down syndrome among Neanderthals?M. Conde-Valverde et al. — 2024
- 210Meet The First Woman With Down Syndrome To Walk At Fashion WeekProbus S, McNeal J — 12 February 2015
- 213NewsMar Galcerán makes history as Spain's first parliamentarian with Down's syndromeAshifa Kassam — 2024-01-09
- 215NewsMark Haddon: First he tackled Asperger's, now the writer is putting Down's syndrome in the spotlight with a new dramaJames Rampton — 30 August 2007
- 216Who is Terry Boyle? Line of Duty season 6 brings back a familiar characterEleanor Bley Griffiths — 21 March 2021
- 218tommy-jessop-downs-syndrome-line-of-duty29 June 2023
- 221NYFW: Model with Down Syndrome Says 'There Are No Limits'Mier T — 17 February 2020
- 224Meet Sofia Jirau, Victoria's Secret's 1st Model With Down SyndromeHolender S — 2022-02-17
- 225About me
- 2272021 ESPYS award winners2021-07-10
- 232Grace Strobel Knows How Good Her Skin LooksAbelman D — 21 March 2021
- 234Press releaseObagi Clinical® Continues Collaboration with Down Syndrome Advocate Grace StrobelObagi
- 235The Grace Effect: Local model is on a mission to change the world in styleLeBlanc DA — March 2022
- 236TheGraceEffect – Creating Ripples With Kindness And RespectStrobel G — 2020-01-24
- 245New TV Series Features Young Adults With Down SyndromeHeasley S — 2015-11-16
- 248NewsDevo: 'Richard Branson almost killed us in the Jamaican mountains'Dave Simpson et al. — 2022-04-14
- 249NewsBarbie doll with Down's syndrome launched by MattelSarah Marsh — 25 April 2023
- 250First blind Barbie released by toy maker MattelHolly Bancroft — 2024-07-23
- 251News'World-leading' Down's syndrome bill clears first hurdle in ParliamentFox N — BBC News — 2021-11-26
- 252JournalExamining dementia in Down's syndrome (DS): decline in social abilities in DS compared with other learning disabilitiesThompson SB — Taylor & Francis (Routledge) — 1999
- 253JournalThe Central Executive System in people with Down's syndrome and dementiaThompson SB — Taylor & Francis (Routledge) — 2000a
- 254JournalInvestigation into Down's syndrome and dementiaThompson SB — 2000b