Down Syndrome
Down's Syndrome
 |
| (Down Syndrome, Trisomy 21, Aneuploidy) |
Introduction
Abortion rates
About 92% of pregnancies in Europe with a diagnosis of Down syndrome are terminated. As a result, there is almost no one with Down syndrome in Iceland and Denmark, where screening is commonplace. In the United States, the termination rate after diagnosis is around 75%. Rates are lower among women who are younger and have decreased over time. 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.
- The only factor that has been linked to the increase chance of having a baby with DS is maternal age.
- DS is caused by having three copies of genes on chromosome 21 rather than the usual two. The parents of the affected individuals are typically genetically normal.
- The older the mother, the higher the chances are of having a baby with Down Syndrome.
- Prior affected child 1% chances if both the parents are found to have normal karyotypes.
- Trisomy 21
- Mosaicism
Mosaicism is diagnosed when there is a mixture of two types of cells, some cells have 3 copies of chromosome 21 but some cells have the typical two copies of chromosome 21. Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome. 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.
- Translocation
The extra chromosome 21 material may also occur due to a Robertsonian translocation in 2–4% of cases. In this situation, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14. In a male affected with Down syndrome, it results in a karyotype of 46XY,t(14q21q). This may be a new mutation or previously present in one of the parents. The parent with such a translocation is usually normal physically and mentally; however, during production of egg or sperm cells, a higher chance of creating reproductive cells with extra chromosome 21 material exists. This results in a 15% chance of having a child with Down syndrome when the mother is affected and a less than 5% probability if the father is affected. The probability of this type of Down syndrome is not related to the mother's age. Some children without Down syndrome may inherit the translocation and have a higher probability of having children of their own with Down syndrome. In this case it is sometimes known as familial Down syndrome.
"Poor immune system".
 |
| Single transverse palmer crease |
 |
| Enlarged tongue |
- Physical :
 |
| First and second toe separated |
- Neurological :
- Senses : Vision problems like strabismus in which (two eyes do not move together). Cataract (cloudiness of the lens of the eyes) is common and may be present at birth. Keratoconus (a thin cone shaped cornea) and glaucoma (increased eye pressure) are also more common. Brush field spots (small white and greyish /brown spots on the outer part of iris are present in individuals. Hearing problems are found in children with down syndrome, this is often with otitis media with effusion which occurs in chronic ear effusion. Age related hearing loss of the sensorineural type occurs.
 |
| Brush field spots |
- Heart : Congenital heart disease, septal defects, mitral valve problem. tetralogy of Fallot and patent ductus arteriosus. People with down syndrome has a lower risk of hardening of arteries.
- Cancer : Testicular cancer,
Non blood cancer : Down syndrome individual have a lower risk of all major solid cancers including liver, breast, lung, cervix. This lower risk is thought due to an increase in expression of tumor suppression genes present on chromosome 21. One exception is testicular germ cell cancer which occur in higher rate in down syndrome.
- Endocrine : Low Thyroid problem, congenital hypothyroidism, Graves disease, autoimmune thyroidism, Type 1 Diabetes mellitus is common.
- Gastrointestinal : Constipation, duodenal atresia, pyloric stenosis, Meckel's diverticulum, imperforate anus. Celiac disease, gastro esophageal disease.
- Teeth : More susceptible to gingivitis, periodontal disease, necrotizing ulcerative gingivitis, tooth loss especially lower front tooth. Plaque and poor oral hygiene are contributary factors. Weaken immune system contributes to yeast infection, in the mouth (Candida albicans). Down syndrome individual have alkaline saliva resulting in greater resistance to tooth decay, despite decrease quantity of saliva. Higher rate of tooth wear and bruxism are common. Enlarged hypotonic tongue, crusted and hypotonic lip, mouth breathing, narrow palate, with crowded teeth, malocclusion with under developed maxilla, and posterior crossbite. Delayed exfoliation of baby teeth. and delayed eruption of adult teeth, shorter root of teeth, and often missing and malformed teeth. Cleft lip and palate and enamel hypocalcification. Taurodontism, an elongated of the pulp chamber has high prevalence with people with DS.
- Fertility : Male with down syndrome usually do not father children due to problem with sperm development and also not been sexually active. while female have a lower rate of fertility. Menopause usually occurs at an early age. Around half of the children of some one with Down syndrome will have the DS.
 |
| 21st March |
Before birth
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. The false-positive rate with screening is about 2–5%. Amniocentesis and chorionic villus sampling are more reliable tests, but they increase the risk of miscarriage by between 0.5 and 1%. The risk of limb problems may be increased in the offspring if chorionic villus sampling is performed before 10 weeks. 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.
- Blood test, which reveals abnormality of the chromosomes in the child. 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. Parents generally wish to know the possible diagnosis once it is suspected and do not wish pity.
- Those with Down syndrome also lack a normal number of Lymphocytes and produce less antibodies which contributes to their increased risk of infection.
Screening
Guidelines recommend screening for Down syndrome to be offered to all pregnant women, regardless of age. A number of tests are used, with varying levels of accuracy. They are typically used in combination to increase the detection rate. None can be definitive, thus if screening is positive, either amniocentesis or chorionic villus sampling is required to confirm the diagnosis. Screening in both the first and second trimesters is better than just screening in the first trimester. The different screening techniques in use are able to pick up 90–95% of cases, with a false-positive rate of 2–5%. 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 26 women who test positive on screening, only one will have Down syndrome confirmed. If the screening test has a 2% false-positive rate, this means one of eleven who test positive on screening have a fetus with Down syndrome.
| Screen | Week of pregnancy when performed | Detection rate | False positive | Description |
|---|---|---|---|---|
| Combined test | 10–13.5 wks | 82–87% | 5% | Uses ultrasound to measure nuchal translucency in addition to blood tests for free or total beta-HCG and 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 | 96–100% | 0.3% | A blood sample is taken from the mother by venipuncture and is sent for DNA analysis. |
Ultrasound imaging can be used to screen for Down syndrome. Findings that indicate increased chances when seen at 14 to 24 weeks of gestation include a small or no nasal bone, large ventricles, nuchal fold thickness, and an abnormal right subclavian artery, among others. The presence or absence of many markers is more accurate. Increased fetal nuchal translucency (NT) indicates an increased possibility of Down syndrome picking up 75–80% of cases and being falsely positive in 6%.
"All women, regardless their age, have a small chance of delivering a baby with a physical or cognitive disability. The nuchal scan helps physicians estimate the chance of the fetus having Down syndrome or other abnormalities more accurately than by maternal age alone."
A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal screening scan (ultrasound ) to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected.
Since chromosomal abnormalities can result in impaired cardiovascular development, a nuchal translucency scan is used as a screening, rather than diagnostic, tool for conditions such as Down syndrome.
There are two distinct measurements: the size of the nuchal translucency and the thickness of the nuchal fold. Nuchal translucency size is typically assessed at the end of the first trimester, between 11 weeks 3 days and 13 weeks 6 days of pregnancy. Nuchal fold thickness is measured towards the end of the second trimester. As nuchal translucency size increases, the chances of a chromosomal abnormality and mortality increase; 65% of the largest translucencies (>6.5mm) are due to chromosomal abnormality, while fatality is 19% at this size. A nuchal scan may also help confirm both the accuracy of the pregnancy dates and the fetal viability.
Procedure
Nuchal scan (NT procedure) is performed between 11 and 14 weeks of gestation, because the accuracy is best in this period. The scan is obtained with the fetus in sagittal section and a neutral position of the fetal head (neither hyper-flexed nor extended, either of which can influence the nuchal translucency thickness). The fetal image is enlarged to fill 75% of the screen, and the maximum thickness is measured, from leading edge to leading edge. It is important to distinguish the nuchal lucency from the underlying amniotic membrane. Normal thickness depends on the crown-rump length (CRL) of the fetus. Among those fetuses whose nuchal translucency exceeds the normal values, there is a relatively high risk of significant abnormality.
Accuracy
An increased nuchal translucency increases the probability that the fetus will be affected by a chromosomal abnormality. Typically, nuchal translucency alone is not sufficient as a screening test for chromosomal abnormalities.
How to define a normal or abnormal nuchal translucency measurement can be difficult. The use of a single millimeter cutoff (such as 2.5 or 3.0 mm) is inappropriate because nuchal translucency measurements normally increases with gestational age (by approximately 15% to 20% per gestational week from 10 to 13 weeks). At 12 weeks of gestational age, an "average" nuchal thickness of 2.18mm has been observed; however, up to 13% of chromosomally normal fetuses present with a nuchal translucency of greater than 2.5mm. Thus for even greater accuracy of predicting risks, the outcome of the nuchal scan may be combined with the results of simultaneous maternal blood tests.
The advantage of nuchal scanning over the previous use of just biochemical blood profiling is mainly the reduction in false positive rates. Nuchal scanning alone detects 62% of all Down syndrome (sensitivity ) with a false positive rate of 5.0%; the combination with blood testing gives corresponding values of 73% and 4.7%.In another study values of 79.6% and 2.7% for the combined screening were then improved with the addition of second trimester ultrasound scanning to 89.7% and 4.2% respectively. A further study reported detection of 88% for trisomy 21 (Down syndrome). Finally, using the additional ultrasound feature of an absent nasal bone can further increase detection rates for Down syndrome to more than 95%.
Development of nuchal translucency
Nuchal translucency (fluid measurement behind the fetus’ neck)
The actual anatomic structure whose fluid is seen as translucency is likely the normal skin at the back of the neck, which either may become edematous or in some cases filled with fluid by dilated lymphatic sacs due to altered normal embryological connections.
The translucent area measured (the nuchal translucency) is only useful to measure between 11 and 14 weeks of gestation, when the fetal lymphatic system is developing and the peripheral resistance of the placenta is high. After 14 weeks the lymphatic system is likely to have developed sufficiently to drain away any excess fluid, and changes to the placental circulation will result in a drop in peripheral resistance. So after this time any abnormalities causing fluid accumulation may seem to correct themselves and can thus go undetected by nuchal scanning.
The buildup in fluid is due to a blockage of fluid in the developing fetal lymphatic system. Progressive increase in the width of the translucent area during the 11- to 14-week measurement period is thus indicative of congenital lymphedema.
Nuchal fold thickness
Nuchal translucency testing is distinctly different from and should not be confused with nuchal thickness testing. At the end of the second trimester (26 weeks), the nuchal translucency can no longer be seen and instead the nuchal fold thickness is measured between 16 and 24 weeks gestation. The fold is more focal and at the level of the posterior fossa. This measurement has a higher threshold of normal, although the implications of increased thickness are similar to those of translucency. The nuchal fold thickness is considered normal if under 5mm between 16 and 18 weeks gestation and under 6mm between 18 and 24 weeks gestation. An increased thickness corresponds to increased risk for aneuploidy and other fetal abnormalities. (
(Aneuploidy is defined as the addition of an extra chromosome or removal or absence of a chromosome from any of its pair. Each species contains a definite set of chromosomes where human contain 46 chromosomes which are 23 in pair to form a typical body cell and proper functioning of the parts.) Trisomy is the most common aneuploidy. In trisomy, there is an extra chromosome. A common trisomy is Down syndrome (trisomy 21)
Blood Test
(level of two proteins in their blood (Free-ß-hCG and PAPP-A),
Several blood markers can be measured to predict the chances of Down syndrome during the first or second trimester. Testing in both trimesters is sometimes recommended and test results are often combined with ultrasound results. In the second trimester, often two or three tests are used in combination with two or three of: alpha fetoprotein, unconjugated estriol, total HCG, and free β-hCG detecting about 60–70% of cases.
Testing of the mother's blood for fetal DNA is being studied and appears promising in the first trimester. 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. Accuracy has been reported at 98.6% in the first trimester of pregnancy. Confirmatory testing by invasive techniques (amniocentesis, CVS) is still required to confirm the screening result.
Testing of the mother's blood for fetal DNA is being studied and appears promising in the first trimester. 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. Accuracy has been reported at 98.6% in the first trimester of pregnancy. Confirmatory testing by invasive techniques (amniocentesis, CVS) is still required to confirm the screening result.
- Human chorionic gonadotropins (HCG)
In pregnancies affected by Down syndrome there is a tendency for the levels of human chorionic gonadotropins (HCG) to be increased.
- Pregnancy associated plasma protein A (PAPP-A)
Pregnancy -associated plasma protein A (PAPP-A) to be decreased. PAPP-A test is ordered as a maternal screening test along with other tests to screen a pregnant mother for chromosomal abnormalities or genetic disorders like DS (trisomy 21). This test is one of the options for prenatal Down screening.
- Materni T21 - A non invasive blood test (NIPT)
This form of testing analyses cell- free fetal DNA that is present in the mother’s blood. It’s a new form of screening for Down Syndrome.. It can also test for X and Y chromosome conditions. This blood test can be performed from 9 weeks onwards and must be performed in conjunction with a dating ultrasound. NIPT has the highest accuracy rate for assessing fetal trisomy risk and can identify more than 99% of fetuses with Trisomy 21.
Blood testing is also used to look for abnormal levels of alpha-fetoprotein or hormones. The results of all three factors may indicate a higher chance of Down Syndrome. If this is the case, the woman may be advised to have a more reliable screen such as cell-free fetal DNA screening or an invasive diagnostic test (such as chorionic villus sampling or amniocentesis ).
Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was introduced in the 1990s. This method identifies about 75% of affected fetuses while screening about 5% of pregnancies. Natural fetal loss after positive diagnosis at 12 weeks is about 30%.
When screening is positive, chorionic villus sampling (CVS) or amniocentesis testing is required to confirm the presence of a genetic abnormality. However this procedure carries a small risk of miscarriage so prior screening with low false positive rates are needed to minimize the chance of miscarrying.
Amniocentesis or Chorionic Villus Sampling
Until recently, the only reliable ways to determine if the fetus has a chromosomal abnormality was to have an invasive test such as amniocentesis or chorionic villus sampling but such tests carry a risk of causing a miscarriage estimated variously as ranging between 1% or 0.06%. Based on maternal age, some countries offer invasive testing to women over 35; others to the oldest 5% of pregnant women. Most women, especially those with a low chance of having a child with Down syndrome, may wish to avoid the risk to the fetus and the discomfort of invasive testing.
Caution : Only invasive tests (Amniocentesis and Chorionic Villus Sampling) can clinically confirm the presence of Down Syndrome in a baby. It’s important to note that up to 1 in every 100 women who receive invasive testing will miscarry. So it’s important to think it through before undergoing this form of testing.
Caution : Only invasive tests (Amniocentesis and Chorionic Villus Sampling) can clinically confirm the presence of Down Syndrome in a baby. It’s important to note that up to 1 in every 100 women who receive invasive testing will miscarry. So it’s important to think it through before undergoing this form of testing.
- Educational support
- Sheltered work environment
| Testing | Children | Adults |
|---|---|---|
| Hearing | 6 months, 12 months, then yearly | 3–5 years |
| T4 and TSH | 6 months, then yearly | |
| Eyes | 6 months, then yearly | 3–5 years |
| Teeth | 2 years, then every 6 months | |
| Coeliac 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. This is recommended to be done systematically.
At birth, all children should get an electrocardiogram and ultrasound of the heart. Surgical repair of heart problems may be required as early as three months of age. heart
valve problems may occur in young adults, and further ultrasound evaluation may be needed in adolescents and in early adulthood. Due to the elevated risk of testicular cancer, some recommend checking the person's testicles yearly.
Cognitive development
Hearing aid or other amplification devices can be useful for language learning in those with hearing loss. Speech therapy may be useful and is recommended to be started around nine months of age. As those with Down syndrome typically have good hand-eye coordination, learning sign language may be possible. Augmentative and alternative communication methods, such as pointing, body language, objects, or pictures, are often used to help with communication. Behavioral issues and mental illness are typically managed with counseling or medications.
Education programs before reaching school age may be useful. School-age children with Down syndrome may benefit from inclusive education (whereby students of differing abilities are placed in classes with their peers of the same age), provided some adjustments are made to the curriculum. Evidence to support this, however, is not very strong. In the United States, the individuals with disability education act of 1975 requires public schools generally to allow attendance by students with Down syndrome.
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. 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.
Tympanostomy tubes are often needed and often more than one set during the person's childhood. Tonsillectomy is also often done to help with sleep apnea and Throat infections Surgery, however, does not always address the sleep apnea and a continuous positive airway pressure (CPAP) machine may be useful. Physical therapy and participation in physical education may improve motor skills. Evidence to support this in adults, however, is not very good.
Efforts to prevent respiratory syncytial virus (RSV) infection with human monoclonal antibodies should be considered, especially in those with heart problems. In those who develop dementia there is no evidence for memantine, donepezil, rivastigmine, galantamine.
Plastic surgery has been suggested as a method of improving the appearance and thus the acceptance of people with Down syndrome. It has also been proposed as a way to improve speech. Evidence, however, does not support a meaningful difference in either of these outcomes. Plastic surgery on children with Down syndrome is uncommon, and continues to be controversial The U.S. National Down Syndrome Society views the goal as one of mutual respect and acceptance, not appearance.
Many alternative medical techniques are used in Down syndrome; however, they are poorly supported by evidence. These include: dietary changes, massage, animal therapy, chiropractic, and naturopathy, among others. Some proposed treatments may also be harmful.
Prognosis
Between 5 and 15% of children with Down syndrome in Sweden attend regular school. Some graduate from high school; however, most do not. Of those with intellectual disability in the United States who attended high school about 40% graduated. Many learn to read and write and some are able to do paid work. In adulthood about 20% in the United States do paid work in some capacity. In Sweden, however, less than 1% have regular jobs. Many are able to live semi-independently, but they often require help with financial, medical, and legal matters. Those with mosaic Down syndrome usually have better outcomes.
Epidemiology
Down syndrome is the most common chromosomal abnormality in humans. Globally, as of 2010, Down syndrome occurs in about 1 per 1,000 births and results in about 17,000 deaths. More children are born with Down syndrome in countries where abortion is not allowed and in countries where pregnancy more commonly occurs at a later age. About 1.4 per 1,000 live births in the United States and 1.1 per 1,000 live births in Norway are affected. In the 1950s, in the United States, it occurred in 2 per 1000 live births with the decrease since then due to prenatal screening and abortions. The number of pregnancies with Down syndrome is more than two times greater with many spontaneously aborting. It is the cause of 8% of all congenital disorders
Maternal age affects the chances of having a pregnancy with Down syndrome. At age 20, the chance is 1 in 1,441; at age 30, it is 1 in 959; at age 40, it is 1 in 84; and at age 50 it is 1 in 44. Although the probability increases with maternal age, 70% of children with Down syndrome are born to women 35 years of age and younger, because younger people have more children. The father's older age is also a risk factor in women older than 35, but not in women younger than 35, and may partly explain the increase in risk as women age.
Life expectancy
A study in 2015 found that the life expectancy of people with Down syndrome varied greatly depends on their race. However, in general, the average life expectancy of a person with Down syndrome is more than 60 years and continuing to climb.
History
English physician John Langdon Down first described Down syndrome in 1862, recognizing it as a distinct type of mental disability, and again in a more widely published report in 1866. Edouard Sequin described it as separate from cretinism in 1844. By the 20th century, Down syndrome had become the most recognizable form of mental disability.
In antiquity, many infants with disabilities were either killed or abandoned. 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. Researchers believe that a number of historical pieces of art portray Down syndrome, including pottery from the pre - Columbian Tumaco-La Tolita culture in present-day Columbia and Ecuador and the 16th-century painting The Adoration of the Christ Child.
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 eugenics movement 33 of the then 48 U S states and several countries began programs of forced sterilization of individuals with Down syndrome and comparable degrees of disability. Action T4 in Nazi Germany made public policy of a program of systematic involuntary euthanization.
With the discovery of karyotype techniques in the 1950s it became possible to identify abnormalities of chromosomal number or shape. In 1959 Jerome Lejeune reported the discovery that Down syndrome resulted from an extra chromosome. However, Lejeune's claim to the discovery has been disputed, 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. The discovery took place in the laboratory of Raymond Turpin at the Hospital Trousseau in Paris, France. Jérôme Lejeune and Marthe Gautier were both his students.
As a result of this discovery, the condition became known as trisomy 21.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 injury sustained during birth,
Name
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". He felt that the existence of Down syndrome confirmed that all peoples were genetically related. In the 1950s with discovery of the underlying cause as being related to chromosomes, concerns about the race-based nature of the name increased.
In 1961, a group of nineteen scientists suggested that "mongolism" had "misleading connotations" and had become "an embarrassing term". The World Health Organization (WHO) dropped the term in 1965 after a request by the delegation from the Mongolian People's Republic While the term mongoloid (also mongolism, Mongolian imbecility or idiocy) continued to be used until the early 1980s, it is now considered unacceptable and is no longer in common use.
Ethics
Most obstetricians argue that not offering screening for Down syndrome is unethical. As it is a medically reasonable procedure, per informed consent , people should at least be given information about it. It will then be the woman's choice, based on her personal beliefs, how much or how little screening she wishes. When results from testing become available, it is also considered unethical not to give the results to the person in question.
Some bioethicists deem it reasonable for parents to select a child who would have the highest well-being. One criticism of this reasoning is that it often values those with disabilities less. Some parents argue that Down syndrome should not be prevented or cured and that eliminating Down syndrome amounts to genocide. The disability rights movement does not have a position on screening, although some members consider testing and abortion discriminatory. Some in the United States who are anti abortion support abortion if the fetus is disabled, while others do not. Of a group of 40 mothers in the United States who have had one child with Down syndrome, half agreed to screening in the next pregnancy.
Advocacy groups
The first World Down Syndrome Day was held on 21 March 2006. The day and month were chosen to correspond with 21 and trisomy, respectively. It was recognized by the United Nations General Assembly in 2011.
Research
Down syndrome may also occur in hominids other than humans. In great apes chromosome 22 corresponds to the human chromosome 21 and thus trisomy 22 causes Down syndrome in apes. The condition was observed in a common chimpanzee in 1969 and a Bornean orangutan in 1979, but neither lived very long. The common chimpanzee Kanako (born around 1993, in Japan) has become the longest-lived known example of this condition. Kanako has some of the same symptoms that are common in human Down syndrome. It is unknown how common this condition is in chimps but it is plausible it could be roughly as common as Down syndrome is in humans.
- Struck by lightening, 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.
List of people with Down syndrome
| Names | Details | Lifespan | Country | |
|---|---|---|---|---|
| Danny Alsabbagh | Actor who played Toby in Summer Heights High. | Unknown |  Australia | |
| Angela Bachiller | City councilor in Valladolid, Spain, representing the People's Party. | Unknown |  Spain | |
| Edward Barbanell | Actor who starred in The Ringer | b. 1977 |  United States | |
| Sam Barnard | Actor and reality star who appeared on The The Suspicions of Mr Whicher and The Undateables | b. 1985 |  England | |
| Jay Beatty | Celtic F.C. fan | b. 2003 |  Northern Ireland | |
| Jamie Brewer | Actress who appeared in American Horror Story : Murder House and American Horror Story : Coven | b. 1985 | United States | |
| Chris Burke | Actor and folk singer, best known for his role in Life Goes On as character Charles "Corky" Thacher | b. 1965 | United States | |
| John Cronin | Entrepreneur who started John's Crazy Socks | b. 1996 | United States | |
| Collette Divitto | Entrepreneur who started Collettey's Cookies | b. 1990 | United States | |
| Pascal Duquenne | Actor who won the Best actor award at the 1996 Cannes Film Festival for his role in The Eighty Days. | b. 1970 |  Belgium | |
| Heidi Crowter | Disability rights advocate | England | ||
| Andrea Fay Friedman | Actress who appeared in Life Goes On and the Family Guys episode "Extra Large Medium" | b. 1970 | United States | |
| Karen Gaffney | Disability rights campaigner and the first living person with Down syndrome to receive an honorary doctorate degree | b. 1977 | United Stated | |
| Anne de Gaulle | Youngest child of Charles and Yvonne de Gaulle | 1928-1948 |  France | |
| Marin Gerrier | Actor who was nominated for a Genie Award for his role in Cafe' de Flore | Unknown | France | |
| Marte Waxelsen Gokoyr | Actress, playwright, writer and disability rights activist | b. 1982 |  Norway | |
| Sarah Gordy | Actress who has appeared in Upstairs Downstairs and Call the Midwife | b. 1976 | England | |
| Zack Gottsagen | Actor with the leading role in Peanut Butter Falcon Peanut Butter Falcon and first presenter in the history of the Academy Awards with Down syndrome | b. 1985 | United States | |
| Sandra Jensen | The first person with Down syndrome to receive a heart-lung transplant | d. 1997 | United States | |
| Tommy Jessop | Actor who starred in Coming Down The Mountain and with Blue Apple Theater | b. 1985 | England | |
| Jason Kingsley | Actor who appeared in 55 episodes of Sesame Street. | b. 1974 | United States | |
| Laz- D | Rapper | b. 1982 | United States | |
| Rene Moreno | Subject of the 2001 documentary Up Syndrome | Unknown | United States | |
| Lily D Moore | Actress who played Rebecca Hall-Yoshida in Never Have I Ever | b. 2003 | United States | |
| Joey Moss | Edmonton Oilers locker room attendant | 1963-2020 |  Canada | |
| Chris Nikic | first person with Down syndrome to complete an Ironman triathlon | b. 1999 | United States | |
| Pablo Pineda | Actor who starred in the film Yo También and first student with Down syndrome in Europe to obtain a degree | b. 1974 | Spain | |
| Lauren Potter | Actress who played Becky Jackson in Glee | b. 1990 | United States | |
| Paula Sage | BAFTA Scotland award-winning actress who appeared in After Life | b. c. 1980 |  Scotland | |
| Robbie Savage | Football fan and socialite. Official mascot of the Brave Warriors, Namibia's national football team | 1967-2017 |  Namibia | |
| Judith Scott | Outsider sculptor and fiber artist | 1943-2005 | United States | |
| Sanna Sepponen | Actress known for her role in Salatut elamat | b. 1977 |  Finland | |
| Madeline Stuart | Model who walked at New York Fashion Week, hailed as the first professional model with Down syndrome | b. 1996 | Australia | |
| Tim, the "Oldenburg Baby" | An infant who was born after an unsuccessful abortion attempt and subsequently fostered | 1997-2019 |  Germany | |
| Ali Topaloglu | World and European champion track and field athlete | b. 1998 |  Turkey | |
| Luke Zimmerman | Actor who starred in The secret life of American Teenager | b. 1979 | United States |
https://madhuchhandacdmo.blogspot.com/2021/01/down-syndrome.html
Comments
Post a Comment