Understanding Down Syndrome: Common Genetic Condition and Misconceptions

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Down Syndrome is a chromosomal abnormality and probably the most common genetic condition, occurs in approximately one in every eight hundred to one thousand live births or accounts for approximately 5-6 per cent of intellectual retardation. Although, most students with Down's Syndrome are between the mild to moderate range of mental retardation. Initially, Down's Syndrome was given the label of Mongolism due to the physical characteristics of the disorder.

A student with Down's Syndrome is usually quite recognizable due to characteristics like a smaller overall stature, flat facial profile, thick epicanthal folds in the corners of their eyes, protruding tongues which is due to their smaller oral cavity and muscle hypotonia - low muscle tone.

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Best Practices Inclusion: Students with special needs should be full members of age appropriate inclusional classes to the extent they can be. Effective inclusion means that the teacher must be fully supportive of the model. The strategies you use to reach and teach the Down's student will often be beneficial to many learners in the classroom.

See the inclusional checklist Inclusion is a good practice for students with Down's Syndrome. The inclusional environment is less likely to stigmatize and provide a much more natural environment for the students. There are more opportunities for peer relationships to occur and much of the research states that full integration works better. Self-Esteem: The physical characteristics of a Down's student will often result in a lowered self-esteem which means you will need to take every opportunity to boost self confidence and instill pride through a variety of strategies.

Intellectual: Down's students usually face many intellectual challenges. Strategies that work for mildly retarded students and or students with significant learning disabilities will also work with Down's students. Much literature have stated that most individuals with Down syndrome do not progress beyond the intellectual capabilities of a normal developing six to eight year old (Kliewer 1993). However, always strive to move the child progressively along the learning continuum, never assume the child isn't capable.

Solid intervention and high quality instruction have been proven to lead to improved academic achievement for Down's students. Use a multi-modal approach which works best for all students. Use as many concrete materials and real world authentic situations as is possible. Use language appropriate for student understanding and speak slowly when necessary. Always break tasks into smaller steps and provide instruction for each step. Remember, a student with Down's Syndrome will usually have a good short term memory. Short attention spans are also prevalent among students with Down's.

Read about Early Literacy

Direct instruction in short periods of time along with smaller chunks of activities will help to support learning. Introducing new material slowly, sequentially and in a step by step fashion will help to ensure maximum learning occurs. Distractibility: Down's students are ofen easily distracted. You'll need to employ strategies that work to minimize distractions such as keeping the student away from the window, using a slightly more structured environment, keeping the noise level down and having an orderly classroom where students are free from surprises and know what your expectations, routines and rules are.

Speech and Language: Down's students all suffer from serious problems such as hearing difficulties and articulation problems. Sometimes they will require speech/language intervention and a great deal of direct instruction. In some cases, augmentative or facilitated communication will be a good alternative for communication. Use patience and model appropriate interactions at all times. Behavior Management Techniques used for other students should not differ for the student with Down's Syndrome.

Again, positive reinforcement is a much better method than anything punitive. Reinforcers need to be meaningful. Todays classroom has many special needs students, and the inclusional model is often the best model and one supported by research. The inclusive classrooms lets all students learn what it means to be a full member of a school community. Treat all students as valued learners. Although many teachers don't have experience with Down's Syndrome, they have been teaching these students very well for a long time.

Mental characteristics and neurologyMost individuals with Down syndrome have intellectual disability in the mild (IQ 50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome typically 10–30 points higher. The methodology of the IQ tests has been criticised for not taking into account accompanying physical disabilities, such as hearing and vision impairment, that would slow performance. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay.

Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Effects of the condition on the development of gross motor skills are quite variable. Some children will begin walking at around 2 years of age, while others will not walk until age four. Physical therapy, and/or participation in a program of adapted physical education (APE), may promote enhanced development of gross motor skills in Down syndrome children. Children and adults with DS are at increased risk for developing epilepsy and also Alzheimer's disease.

Congenital heart diseaseThe incidence of congenital heart disease in newborn babies with Down syndrome is up to 50%. An atrioventricular septal defect also known as endocardial cushion defect is the most common form with up to 40% of patients affected. This is closely followed by ventricular septal defect that affects approximately 35% of patients. CancerAlthough the general incidence of cancer amongst individuals with Down syndrome is the same as in the general population,there are greatly reduced incidences of many common malignancies except leukemia and testicular cancer.

People with Down syndrome also have a much lower risk of hardening of the arteries and diabetic retinopathy. Hematologic malignancies such as leukemia are more common in children with DS. In particular, acute lymphoblastic leukemia is at least 10 times more common in DS and the megakaryoblastic form of acute myelogenous leukemia is at least 50 times more common in DS. Transient leukemia is a form of leukemia that is rare in individuals without DS but affects up to 20 percent of newborns with DS. This form of leukemia is typically benign and resolves on its own over several months, though it can lead to other serious illnesses.

In contrast to hematologic malignancies, solid tumor malignancies are less common in DS, possibly due to increased numbers of tumor suppressor genes contained in the extra genetic material. Thyroid disordersIndividuals with DS are at increased risk for dysfunction of the thyroid gland, an organ that helps control metabolism. Low thyroid (hypothyroidism, thyroidectomy set) is most common, occurring in almost a third of those with DS. This can be due to absence of the thyroid at birth (congenital hypothyroidism) or due to attack on the thyroid by the immune system. 40] GastrointestinalDown syndrome increases the risk of Hirschsprung's disease, in which the nerve cells that control the function of parts of the colon are not present. [41]

This results in severe constipation. Other congenital anomalies occurring more frequently in DS include duodenal atresia, annular pancreas, and imperforate anus. Gastroesophageal reflux disease and celiac disease are also more common among people with DS. [42] InfertilityMales with Down syndrome usually cannot father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals. 43] Women with DS are less fertile and often have difficulties with miscarriage, premature birth, and difficult labor. Without preimplantation genetic diagnosis, approximately half of the offspring of someone with Down syndrome also have the syndrome themselves. [43] Men with DS are almost uniformly infertile, exhibiting defects in spermatogenesis. [44] There have been only three recorded instances of males with Down syndrome fathering children. [45][46] Eye disorders Brushfield spots, visible in the irises of a baby with Down Syndrome. Eye disorders are more common in people with DS.

Almost half have strabismus, in which the two eyes do not move in tandem. Refractive errors requiring glasses or contacts are also common. Cataracts (opacity of the lens), keratoconus (thin, cone-shaped corneas), and glaucoma (increased eye pressures) are also more common in DS. [47] Brushfield spots (small white or grayish/brown spots on the periphery of the iris) may be present. Hearing disordersIn general, hearing impairment and otological problems are found in 38-78% of children with Down syndrome compared to 2. 5% of normal children. 48][49][50] However, attentive diagnosis and aggressive treatment of chronic ear disease (e. g. otitis media, also known as glue-ear) in children with Down syndrome can bring approximately 98% of the children up to normal hearing levels. [51]

The elevated occurrence of hearing loss in individuals with Down syndrome is not surprising. Every component in the auditory system is potentially adversely affected by Down syndrome. [50] Otitis media with effusion is the most common cause of hearing loss in Down children;[49] the infections start at birth and continue throughout the children's lives. 52] The ear infections are mainly associated with Eustachian tube dysfunction due to alterations in the skull base. However, excessive accumulation of wax can also cause obstruction of the outer ear canal as it is often narrowed in children with Down syndrome. [53] Middle ear problems account for 83% of hearing loss in children with Down syndrome. [53]

The degree of hearing loss varies but even a mild degree can have major consequences for speech perception, language acquisition, development and academic achievement[52] if not detected in time and corrected. 49] Early intervention to treat the hearing loss and adapted education are useful to facilitate the development of children with Down syndrome, especially during the preschool period. For adults, social independence depends largely on the ability to complete tasks without assistance, the willingness to separate emotionally from parents and access to personal recreational activities. [48] Given this background it is always important to rule out hearing loss as a contributing factor in social and mental deterioration. 50]

Other complicationsInstability of the atlanto-axial joint occurs in approximately 15% of people with DS, probably due to ligamental laxity. It may lead to the neurologic symptoms of spinal cord compression. [54] Postnatal diagnosisIn cases where prenatal tests have been negative or haven't been performed, midwifery staff usually express the initial concern that a newborn has Down's syndrome, such as by distinctive signs or by general appearance. [78] Clinical examination by a pediatrician can often confirm or refute this suspicion with confidence. 78]

Systems of diagnostic criteria for such an examination include Fried's diagnostic index, which includes the following 8 signs: flat face, ear dysplasia, tongue protrusion, corners of mouth turned down, hypotonia, neck skin excess, epicanthic fold, and a gap between 1st and 2nd toes. [78] With 0 to 2 of these characteristics the newborn can likely be said to not have Down syndrome (with less than one in 100 false negatives), with 3 to 5 of these characteristics the situation is unclear (and genetic testing is recommended) and with 6 to 8 characteristics the newborn can confidently be said to have Down syndrome (with less than one in 100. 00 false positives). [78] In cases where there are no clinical grounds for making the diagnosis, it has been suggested that parents can reasonably be kept unaware of the initial suspicion. [78] When the diagnosis remains possible, it is recommended to perform karyotype testing and inform the parents. [78]

ManagementRecommended additional monitoring of children with Down syndrome by DSMIG and CGAAP. [79] Test | Age | Hearing test | 6 months, 12 months, then 1/year | T4 and TSH | 6 months, then 1/year | Ophthalmic evaluation | 6 months, then 1/year | Dental examination | 2 years, then every 6 months. Coeliac disease screening | Between 2 and 3 years of age,or earlier if symptoms occur. | Baseline polysomnography | 3 to 4 years, or earlier if symptomsof obstructive sleep apnea occur. | Cervical neck x-rays | Between 3 and 5 years of age | Many children with Down syndrome graduate from high school and can do paid work,[9] or participate in university education. [10] Management strategies such as Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome.

Education and proper care will improve quality of life significantly. [11] Plastic surgeryPlastic surgery has sometimes been advocated and performed on children with Down syndrome, based on the assumption that surgery can reduce the facial features associated with Down syndrome, therefore decreasing social stigma, and leading to a better quality of life. [80] Plastic surgery on children with Down syndrome is uncommon,[81] and continues to be controversial. Researchers have found that for facial reconstruction, "... lthough most patients reported improvements in their child's speech and appearance, independent raters could not readily discern improvement ... "[82] For partial glossectomy (tongue reduction), one researcher found that 1 out of 3 patients "achieved oral competence," with 2 out of 3 showing speech improvement. [83] Len Leshin, physician and author of the ds-health website, has stated, "Despite being in use for over twenty years, there is still not a lot of solid evidence in favor of the use of plastic surgery in children with Down syndrome. "[84] The U. S.

National Down Syndrome Society has issued a "Position Statement on Cosmetic Surgery for Children with Down Syndrome",[85] which states "The goal of inclusion and acceptance is mutual respect based on who we are as individuals, not how we look. " Cognitive developmentIndividuals with Down syndrome differ considerably in their language and communication skills. It is routine to screen for middle ear problems and hearing loss; low gain hearing aids or other amplification devices can be useful for language learning. Early communication intervention fosters linguistic skills.

Language assessments can help profile strengths and weaknesses; for example, it is common for receptive language skills to exceed expressive skills. Individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy. Augmentative and alternative communication (AAC) methods, such as pointing, body language, objects, or graphics are often used to aid communication. Relatively little research has focused on the effectiveness of communications intervention strategies. 86] Children with Down syndrome may not age emotionally/socially and intellectually at the same rates as children without Down syndrome, so over time the intellectual and emotional gap between children with and without Down syndrome may widen. Complex thinking as required in sciences but also in history, the arts, and other subjects can often be beyond the abilities of some, or achieved much later than in other children.

Children with Down syndrome may benefit from mainstreaming (whereby students of differing abilities are placed in classes with their chronological peers) provided that some adjustments are made to the curriculum. 87] Speech delay may require speech therapy to improve expressive language. [28] Epidemiology Graph showing probability of Down syndrome as a function of maternal age. The CDC estimates that about 1 of every 691 babies born in the United States each year is born with Down syndrome. [8] Each year about 6,000 babies in the United States are born with this condition. Approximately 95% of these are trisomy 21. Maternal age influences the chances of conceiving a baby with Down syndrome. At maternal age 20 to 24, the probability is one in 1562; at age 35 to 39 the probability is one in 214, and above age 45 the probability is one in 19. 88] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35,[89] reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42,[90] also increases the risk of Down syndrome manifesting. [91]

Research historyEnglish physician John Langdon Down first characterized Down syndrome as a distinct form of mental disability in 1862, and in a more widely published report in 1866. 92] Due to his perception that children with Down syndrome shared physical facial similarities (epicanthic folds) with those of Blumenbach's Mongolian race, Down used the term mongoloid, derived from prevailing ethnic theory. [17] While the term "mongoloid" (also "mongol" or "mongoloid idiot") continued to be used until the early 1970s, it is now considered pejorative and inaccurate and is no longer in common use. [93] By the 20th century, Down syndrome had become the most recognizable form of mental disability.

Most individuals with Down syndrome were institutionalized, few of the associated medical problems were treated, and most died in infancy or early adult life. With the rise of the eugenics movement, 33 of the (then) 48 U. S. states and several countries began programs of forced sterilization of individuals with Down syndrome and comparable degrees of disability. "Action T4" in Nazi Germany made public policy of a program of systematic involuntary euthanization. [94] Until the middle of the 20th century, the cause of Down syndrome remained unknown.

However, the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed. Standard medical texts assumed it was caused by a combination of inheritable factors that had not been identified. Other theories focused on injuries sustained during birth. [95] With the discovery of karyotype techniques in the 1950s, it became possible to identify abnormalities of chromosomal number or shape. In 1958, Jerome Lejeune discovered that Down syndrome resulted from an extra chromosome. [96] and, as a result, the condition became known as trisomy 21. 94] In 1961, 18 geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had "misleading connotations," had become "an embarrassing term," and should be changed. [97] The Lancet supported Down's Syndrome. The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate. [93]

Advocacy groups adapted and parents groups welcomed the elimination of the Mongoloid label that had been a burden to their children. The first parents group in the United States, the Mongoloid Development Council, changed its name to the National Association for Down Syndrome in 1972. 98] In 1975, the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations. They recommended eliminating the possessive form: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the condition. "[99] Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the U. S. , Canada and other countries; Down's syndrome is still used in the UK and other areas. [100]

Ethical issuesMedical ethicist Ronald Green argues that parents have an obligation to avoid 'genetic harm' to their offspring,[101] and Claire Rayner, then a patron of the Down's Syndrome Association, defended testing and abortion saying "The hard facts are that it is costly in terms of human effort, compassion, energy, and finite resources such as money, to care for individuals with handicaps ... People who are not yet parents should ask themselves if they have the right to inflict such burdens on others, however willing they are themselves to take their share of the burden in the beginning. [102] Some physicians and ethicists are concerned about the ethical ramifications of the high abortion rate for this condition. [103]

Conservative commentator and father of a son with Down syndrome George Will called it "eugenics by abortion". [104][105] British peer Lord Rix stated that "alas, the birth of a child with Down's syndrome is still considered by many to be an utter tragedy" and that the "ghost of the biologist Sir Francis Galton, who founded the eugenics movement in 1885, still stalks the corridors of many a teaching hospital". 106] Doctor David Mortimer has argued in Ethics & Medicine that "Down's syndrome infants have long been disparaged by some doctors and government bean counters. "[107] Some members of the disability rights movement "believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement's basic philosophy and goals. "[108] Peter Singer argued that "neither haemophilia nor Down's syndrome is so crippling as to make life not worth living from the inner perspective of the person with the condition.

To abort a fetus with one of these disabilities, intending to have another child who will not be disabled, is to treat fetuses as interchangeable or replaceable. If the mother has previously decided to have a certain number of children, say two, then what she is doing, in effect, is rejecting one potential child in favour of another. She could, in defence of her actions, say: the loss of life of the aborted fetus is outweighed by the gain of a better life for the normal child who will be conceived only if the disabled one dies. [109] Society and cultureIn most developed countries, since the early 20th century many people with Down syndrome were housed in institutions or colonies and excluded from society. However, since the early 1960s parents and their organizations, educators and other professionals have generally advocated a policy of inclusion,[110] bringing people with mental and/or physical disabilities into general society as much as possible.

Organizations advocating for the inclusion of people with Down Syndrome include MENCAP advocating for all people with mental disabilities, which was founded in the UK in 1946 by Judy Fryd;[111] the National Association for Down Syndrome, the first known organization advocating for Down syndrome individuals in the United States, which was founded by Kathryn McGee in 1960;[112] the National Down Syndrome Congress, the first truly national organization in the U. S. advocating for Down syndrome families, founded in 1973 by Kathryn McGee and others,[113] and the National Down Syndrome Society, founded in 1979 in the U.

S. [114] In May 2008, the [U. S. ] Congressional Down Syndrome Caucus (CDSC) was formed under the leadership of congresswoman Cathy McMorris Rodgers, to educate members of congress and their staff about Down syndrome and work with the National Down Syndrome Society to support legislative activities to improve Down syndrome research, education, and treatment, and promote public policies that would enhance the quality of life for those with Down syndrome. [115] In September 2011, the National Institutes of Health (NIH) established an NIH Down Syndrome Consortium.

The purpose of the Consortium is to foster the exchange of information on biomedical and biobehavioral research on Down syndrome being conducted by NIH institutes and centers working on Down syndrome-related topics and the national Down syndrome community. [115] Scottish award-winning film and TV actress Paula Sage receives her BAFTA award with Brian Cox. World Down Syndrome DayThe first World Down Syndrome Day (WDSD) was held on 21 March 2006. The day and month were chosen to correspond with 21 and trisomy respectively.

It was proclaimed by European Down Syndrome Association during their European congress in Palma de Mallorca (February 2005). In the United States, the National Down Syndrome Society observes Down Syndrome Month every October as "a forum for dispelling stereotypes, providing accurate information, and raising awareness of the potential of individuals with Down syndrome. "[116] In South Africa, Down Syndrome Awareness Day is held every October 20. [117] Notable individuals Chris Burke is an American actor, folk singer, and motivational speaker. He is best known for his character Charles "Corky" Thacher on the television series Life Goes On.

Andrea Friedman: actress who portrayed Corky's girlfriend Amanda in Life Goes On and Ellen in the Family Guy episode "Extra Large Medium". [118] Dr. Karen Gaffney became the first living person with Down syndrome to receive a Doctor of Humane Letters degree, presented by the University of Portland in 2013, for her long-standing humanitarian work in raising awareness about the capabilities of people who have Down syndrome through her roles as an accomplished sports figure, public speaker, and advocate. [119] Stephane Ginnsz, actor — In 1996 was first actor with Down syndrome in the lead part of a motion picture, Duo. 120] Sandra Jensen was denied a heart-lung transplant by the Stanford University School of Medicine in California because she had Down syndrome. After pressure from disability rights activists, Stanford University School of Medicine administrators reversed their decision. In 1996, Jensen became the first person with Down syndrome to receive a heart-lung transplant. [121]

Tommy Jessop, British actor who starred with Nicholas Hoult in the BAFTA-nominated BBC drama Coming Down the Mountain. [122] In 2012 he became the first actor with Down Syndrome to play Hamlet professionally, in a production by Blue Apple Theatre. 123] Rene Moreno, subject of "Up Syndrome"—a documentary film about life with Down syndrome. [124][125] Joey Moss, Edmonton Oilers locker room attendant. [126] Pablo Pineda, Spanish actor who starred in the semi-autobiographical film Yo Tambien and first student with Down syndrome in Europe to obtain a university degree. [127] Lauren Potter, American actress, best known for her role as Becky Jackson on the television show Glee. Isabella Pujols, adopted daughter of Los Angeles Angels first baseman Albert Pujols and inspiration for the Pujols Family Foundation. 128] Paula Sage, Scottish film actress and Special Olympics netball athlete. [129] Her role in the 2003 film AfterLife brought her a BAFTA Scotland award for best first time performance and Best Actress in the Bratislava International Film Festival, 2004. [130] Judith Scott (May 1, 1943 – March 15, 2005) was a highly regarded American outsider sculptor and fiber artist, whose work features in a number of galleries. [131] Giusi Spagnolo was the first woman with Down Syndrome to graduate college in Europe (she graduated from the University of Palermo in Italy in 2011).