Mental retardation (MR) is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits

in two or more adaptive behaviors. It has historically been defined as an Intelligence Quotient score under 70.[1] Once focused almost entirely on cognition, the definition now includes both a component relating to mental functioning and one relating to individuals' functional skills in their environment. As a result, a person with a belowaverage intelligence quotient (BAIQ) may not be considered mentally retarded. Syndromic mental retardation is intellectual deficits associated with other medical and behavioral signs and symptoms. Non-syndromic mental retardation refers to intellectual deficits that appear without other abnormalities.The terms used to describe this condition are subject to a process called the euphemism treadmill.[citation needed] This means that whatever term is chosen for this condition, it eventually becomes perceived as an insult. The terms mental retardation and mentally retarded were invented in the middle of the 20th century to replace the +- set of terms, which were deemed to have become offensive.[citation
needed]

By the end of the 20th century, these terms themselves have come to be widely seen as disparaging and politically incorrect and in need of replacement.[2] The term intellectual disability orintellectually challenged is now preferred by most advocates in most English-speaking countries. Clinically, however, mental retardation is a subtype of intellectual disability, which is a broader concept and includes intellectual deficits that are too mild to properly qualify as mental retardation, too specific (as in specific learning disability), or acquired later in life, through acquired brain injuries orneurodegenerative diseases like dementia. Intellectual disabilities may appear at any age. Developmental disability is any disability that is due to problems with growth and development. This term encompasses many congenital medical conditions that have no mental or intellectual components, although it, too, is sometimes used as a euphemism for MR.[3] Because of its specificity and lack of confusion with other conditions, mental retardation is still the term most widely used and recommended for use in professional medical settings, such as formal scientific research and health insurance paperwork. The signs and symptoms of mental retardation are all behavioral. Most people with mental retardation do not look like they have any type of intellectual disability, especially if the disability is caused by environmental factors such as malnutrition or lead poisoning. The so-called "typical appearance" ascribed to people with mental retardation is only present in a minority of cases, all of which

involve syndromic mental retardation.Children with mental retardation may learn to sit up, to crawl, or to walk later than other children, or they may learn to talk later.[5] Both adults and children with mental retardation may also exhibit some or all of the following characteristics:Delays in oral language development.Deficits in memory skills.Difficulty learning social rules.Difficulty with problem solving skills.Delays in the development of adaptive behaviors such as self-help or self-care skills.Lack of social inhibitors.Children with mental retardation learn more slowly than a typical child. Children may take longer to learn language, develop social skills, and take care of their personal needs, such as dressing or eating. Learning will take them longer, require more repetition, and skills may need to be adapted to their learning level. Nevertheless, virtually every child is able to learn, develop and become a participating member of the community.In early childhood, mild mental retardation (IQ 5069, a cognitive ability about half to twothirds of standard) may not be obvious, and may not be identified until children begin school.[5] Even when poor academic performance is recognized, it may take expert assessment to distinguish mild mental retardation from learning disability or emotional/behavioral disorders. People with mild MR are capable of learning reading and mathematics skills to approximately the level of a typical child aged 9 to 12.[5] They can learn self-care and practical skills, such as cooking or using the local mass transitsystem.[5] As individuals with mild mental retardation reach adulthood, many learn to live independently and maintain gainful employment.Moderate mental retardation (IQ 3549) is nearly always apparent within the first years of life. Speech delays are particularly common signs of moderate MR.[5] People with moderate mental retardation need considerable supports in school, at home, and in the community in order to participate fully. While their academic potential is limited, they can learn simple health and safety skills and to participate in simple activities.[5] As adults they may live with their parents, in a supportive group home, or even semi-independently with significant supportive services to help them, for example, manage their finances. As adults, they may work in a sheltered workshop.[5]A person with severe or profound mental retardation will need more intensive support and supervision his or her entire life.[5] They may learn some activities of daily living. Some will require full-time care by an attendant.Among children, the cause is unknown for one-third to one-half of cases.[5] Down syndrome, velocariofacial syndrome, and fetal alcohol syndrome are the three most common inborn causes.[5]However, doctors have found many other causes. The most common are:Genetic conditions. Sometimes disability is caused by

abnormal genes inherited from parents, errors when genes combine, or other reasons. The most prevalent genetic conditions include Down syndrome, Klinefelter's syndrome, Fragile X syndrome, Neurofibromatosis, congenital hypothyroidism, Williams syndrome, Phenylketonuria (PKU), and Prader-Willi syndrome. Other genetic conditions include Phelan-McDermid syndrome (22q13del), Mowat-Wilson syndrome, genetic ciliopathy,[6] and Siderius type X-linked mental retardation (OMIM 300263) as caused by mutations in the PHF8 gene (OMIM 300560).[7][8] In the rarest of cases, abnormalities with the X or Y chromosome may also cause disability. 48, XXXX and 49, XXXXX syndrome affect a small number of girls worldwide, while boys may be affected by 47, XYY, 49, XXXXY, or 49, XYYYY.Problems during pregnancy. Mental disability can result when the fetus does not develop properly. For example, there may be a problem with the way the fetus' cells divide as it grows. A woman who drinks alcohol (see fetal alcohol syndrome) or gets an infection like rubella during pregnancy may also have a baby with mental disability.Problems at birth. If a baby has problems during labor and birth, such as not getting enough oxygen, he or she may have developmental disability due to brain damage.Exposure to certain types of disease or toxins. Diseases like whooping cough, measles, or meningitis can cause mental disability if medical care is delayed or inadequate. Exposure to poisons likelead or mercury may also affect mental ability.Iodine deficiency, affecting approximately 2 billion people worldwide, is the leading preventable cause of mental disability in areas of the developing world where iodine deficiency is endemic. Iodine deficiency also causes goiter, an enlargement of the thyroid gland. More common than full-fledged cretinism, as retardation caused by severe iodine deficiency is called, is mild impairment of intelligence. Certain areas of the world due to natural deficiency and governmental inaction are severely affected. India is the most outstanding, with 500 million suffering from deficiency, 54 million from goiter, and 2 million from cretinism. Among other nations affected by iodine deficiency, China and Kazakhstan have instituted widespread iodization programs, whereas, as of 2006, Russia had not.[9]Malnutrition is a common cause of reduced intelligence in parts of the world affected by famine, such as Ethiopia.According to the latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV),[12] three criteria must be met for a diagnosis of mental retardation: an IQ below 70, significant limitations in two or more areas of adaptive behavior (as measured by an adaptive behavior rating scale, i.e. communication,

self-help skills, interpersonal skills, and more), and evidence that the limitations became apparent before the age of 18.It is formally diagnosed by professional assessment of intelligence and adaptive behavior.IQ below 70-The first Englishlanguage IQ test, the Terman-Binet, was adapted from an instrument used to measure potential to achieve developed by Binet in France. Terman translated the test and employed it as a means to measure intellectual capacity based on oral language, vocabulary, numerical reasoning, memory, motor speed and analysis skills. The mean score on the currently available IQ tests is 100, with a standard deviation of 15 (WAIS/WISC-IV) or 16 (Stanford-Binet). Sub-average intelligence is generally considered to be present when an individual scores two standard deviations below the test mean. Factors other than cognitive ability (depression, anxiety, etc.) can contribute to low IQ scores; it is important for the evaluator to rule them out prior to concluding that measured IQ is "significantly below average".Since the diagnosis is not based only on IQ scores, but must also take into consideration a person's adaptive functioning, the diagnosis is not made rigidly. It encompasses intellectual scores, adaptive functioning scores from an adaptive behavior rating scale based on descriptions of known abilities provided by someone familiar with the person, and also the observations of the assessment examiner who is able to find out directly from the person what he or she can understand, communicate, and the like.Adaptive behavior, or adaptive functioning, refers to the skills needed to live independently (or at the minimally acceptable level for age). To assess adaptive behavior, professionals compare the functional abilities of a child to those of other children of similar age. To measure adaptive behavior, professionals use structured interviews, with which they systematically elicit information about persons' functioning in the community from people who know them well. There are many adaptive behavior scales, and accurate assessment of the quality of someone's adaptive behavior requires clinical judgment as well. Certain skills are important to adaptive behavior, such as:Daily living skills, such as getting dressed, using the bathroom, and feeding oneself.Communication skills, such as understanding what is said and being able to answer.Social skills with peers, family members, spouses, adults, and others.Evidence that the limitations became apparent in childhood.This third condition is used to distinguish mental retardation from dementing conditions such as Alzheimer's disease or due to traumatic injuries with attendant brain damage.By most definitions mental retardation is more accurately considered a disability rather than a disease. MR can be distinguished in many ways from mental illness, such as schizophrenia ordepression. Currently, there is no

"cure" for an established disability, though with appropriate support and teaching, most individuals can learn to do many things.There are thousands of agencies around the world that provide assistance for people with developmental disabilities. They include state-run, for-profit, and non-profit, privately run agencies. Within one agency there could be departments that include fully staffed residential homes, day rehabilitation programs that approximate schools, workshops wherein people with disabilities can obtain jobs, programs that assist people with developmental disabilities in obtaining jobs in the community, programs that provide support for people with developmental disabilities who have their own apartments, programs that assist them with raising their children, and many more. There are also many agencies and programs for parents of children with developmental disabilities.Beyond that there are specific programs that people with developmental disabilities can take part in wherein they learn basic life skills. These "goals" may take a much longer amount of time for them to accomplish, but the ultimate goal is independence. This may be anything from independence in tooth brushing to an independent residence. People with developmental disabilities learn throughout their lives and can obtain many new skills even late in life with the help of their families, caregivers, clinicians and the people who coordinate the efforts of all of these people.Although there is no specific medication for mental retardation, many people with developmental disabilities have further medical complications and may take several medications. For example autisic children with developmental delay may utilize anti-psychotics or mood stabilizers to help with behavior. Use of psychotropic medications such as benzodiazepines in people with mental retardation requires monitoring and vigilance as side effects occur commonly and are often misdiagnosed as behavioural and psychiatric problems. Mental retardation affects about 23% of people.[5] 7590% of the affected people have mild retardation. Nonsyndromic or idiopathic MR accounts for 3050% of cases.[5] About a quarter of cases are caused by a genetic disorder.Intellectual disabilities of all kinds have been documented under a variety of names throughout history. Throughout much of human history, society was unkind to those with any type of disability, and people with intellectual disabilities were commonly viewed as burdens on their families.Greek and Roman philosophers, who valued reasoning abilities, disparaged people with intellectual disabilities as barely human.[14] The oldest physiological view of mental retardation is in the writings of Hippocrates in the late fifth century BCE, who believed that it was caused by an imbalance in the four humors in the brain.Until the Enlightenment in Europe, care and asylum was provided by families

and the church (in monasteries and other religious communities), focusing on the provision of basic physical needs such as food, shelter and clothing. Negative stereotypes were prominent in social attitudes of the time.In the 13th century, England declared people with intellectual disabilities to be incapable of making decisions or managing their affairs.[14] Guardianships were created to take over their financial affairs.In the 17th century, Thomas Willis provided the first description of intellectual disabilities as a disease.[14] He believed that it was caused by structural problems in the brain. According to Willis, the anatomical problems could be either an inborn condition or acquired later in life.In the 18th and 19th centuries, housing and care moved away from families and towards an asylum model. People were placed by, or removed from, their families (usually in infancy) and housed in large professional institutions, many of which were self-sufficient through the labor of the residents. Some of these institutions provided a very basic level of education (such as differentiation between colors and basic word recognition and numeracy), but most continued to focus solely on the provision of basic needs of food, clothing, and shelter. Conditions in such institutions varied widely, but the support provided was generally non-individualized, with aberrant behavior and low levels of economic productivity regarded as a burden to society. Heavy tranquilization and assembly line methods of support were the norm, and the medical model of disability prevailed. Services were provided based on the relative ease to the provider, not based on the needs of the individual.In the late 19th century, in response to Charles Darwin's On the Origin of Species, Francis Galton proposed selective breeding of humans to reduce intellectual disabilities.[14] Early in the twentieth century the eugenics movement became popular throughout the world. This led to the forced sterilization and prohibition of marriage in most of the developed world and later used by Hitler as rationale for the mass murder of mentally challenged individuals during the holocaust. Eugenics was later abandoned as an evil violation of human rights, and the practice of forced sterilization and prohibition from marriage was discontinued by most of the developed world by the mid 20th century.In 1905, Alfred Binet produced the first standardized test for measuring intelligence in children.[14] Although ancient Roman law had declared people with mental retardation to be incapable of the deliberate intent to harm that was necessary for a person to commit a crime, during the 1920s, Western society believed they were morally degenerate. Ignoring the prevailing attitude, Civitans adopted service to the developmentally

disabled as a major organizational emphasis in 1952. Their earliest efforts included workshops for special education teachers and daycamps for disabled children, all at a time when such training and programs were almost nonexistent.[15] The segregation of people with developmental disabilities wasn't widely questioned by academics or policy-makers until the 1969 publication of Wolf Wolfensberger's seminal work "The Origin and Nature of Our Institutional Models",[16] drawing on some of the ideas proposed by SG Howe 100 years earlier. This book posited that society characterizes people with disabilities as deviant, sub-human and burdens of charity, resulting in the adoption of that "deviant" role. Wolfensberger argued that this dehumanization, and the segregated institutions that result from it, ignored the potential productive contributions that all people can make to society. He pushed for a shift in policy and practice that recognized the human needs of "retardates" and provided the same basic human rights as for the rest of the population.The publication of this book may be regarded as the first move towards the widespread adoption of the social model of disability in regard to these types of disabilities, and was the impetus for the development of government strategies for desegregation. Successful lawsuits against governments and an increasing awareness of human rights and self-advocacy also contributed to this process, resulting in the passing in the U.S. of the Civil Rights of Institutionalized Persons Act in 1980.From the 1960s to the present, most states have moved towards the elimination of segregated institutions. Normalization and deinstitutionalization are dominant.[14] Along with the work of Wolfensberger and others including Gunnar and Rosemary Dybwad,[17] a number of scandalous revelations around the horrific conditions within state institutions created public outrage that led to change to a more community-based method of providing services.By the mid-1970s, most governments had committed to de-institutionalization, and had started preparing for the wholesale movement of people into the general community, in line with the principles ofnormalization. In most countries, this was essentially complete by the late 1990s, although the debate over whether or not to close institutions persists in some states, including Massachusetts.In the past, lead poisoning and infectious diseases were significant causes of intellectual disabilities. Some causes of mental retardation are decreasing, as medical advances, such as vaccination, increases. Other causes are increasing, perhaps due to rising maternal age, which is associated with several syndromic forms of mental retardation.Along with the changes in terminology, and the downward drift in acceptability of the old terms, institutions of all kinds have had to repeatedly change their names. This affects the names of schools, hospitals,

societies, government departments, and academic journals. For example, the Midlands Institute of Mental Subnormality became the British Institute of Mental Handicap and is now the British Institute of Learning Disability. This phenomenon is shared with mental health and motor disabilities, and seen to a lesser degree in sensory disabilities.Several traditional terms denoting varying degrees of mental deficiency long predate psychiatry. All terms have been subjected to the euphemism treadmill. In common usage, these terms are simple forms of abuse. They are often encountered in old documents such as books, academic papers, and census forms (for example, the British census of 1901 has a column heading including the termsimbecile and feeble-minded).Negative connotations associated with these numerous terms for mental retardation reflect society's attitude about the condition. There are competing desires among elements of society, some of whom seek neutral medical terms, and others who want to use such terms as weapons with which to abuse people.Today, the term retarded is slowly being replaced by new words like special or challenged. The term developmental delay is popular among caretakers and parents of individuals with mental retardation. Using the word delay is preferred over disability by many people, because delay suggests that a person is slowly reaching his or her full potential, rather than someone who has been disabled.Usage has changed over the years, and differed from country to country, which needs to be borne in mind when looking at older books and papers. For example, mental retardation in some contexts covers the whole field, but previously applied to what is now the mild MR group. Feeble-minded used to mean mild MR in the UK, and once applied in the US to the whole field. "Borderline MR" is not currently defined, but the term may be used to apply to people with IQs in the 70s. People with IQs of 70 to 85 used to be eligible for special consideration in the US public education system on grounds of mental retardation.Cretin is the oldest and comes from a dialectal French word for Christian.[20] The implication was that people with significant intellectual or developmental disabilities were "still human" (or "still Christian") and deserved to be treated with basic human dignity. Individuals with the condition were considered to be incapable of sinning, thus "christ-like" in their disposition. This term is not used in scientific endeavors since the middle of the 20th century and is generally considered a term of abuse. "Cretinism" is also used as an obsolescent term to refer to the condition of congenitalhypothyroidism, in which there is some degree of mental retardation.Amentia has a long history, mostly associated with dementia. The difference between amentia and dementia was originally defined by time of onset. Amentia was the term used to describe an

individual who developed deficits in mental functioning early in life, while dementia described individuals who develop mental deficiencies as adults. During the 1890s, amentia was used to describe someone who was born with mental deficiencies. By 1912, ament was a classification lumping "idiots, imbeciles, and feeble minded" individuals in a category separate from a dement classification, in which the onset is later in life.Idiot indicated the greatest degree of intellectual disability, where the mental age is two years or less, and the person cannot guard himself or herself against common physical dangers. The term was gradually replaced by the term profound mental retardation.Imbecile indicated an intellectual disability less extreme than idiocy and not necessarily inherited. It is now usually subdivided into two categories, known as severe mental retardation andmoderate mental retardation.Moron was defined by the American Association for the Study of the Feeble-minded in 1910, following work by Henry H. Goddard, as the term for an adult with a mental age between eight and twelve; mild mental retardation is now the term for this condition. Alternative definitions of these terms based on IQ were also used. This group was known in UK law from 1911 to 1959/60 asfeebleminded.Mongolism was a medical term used to identify someone with Down syndrome. The Mongolian People's Republic requested that the medical community cease use of the term as a description of mental retardation. Their request was granted in the 1960s, when the World Health Organization agreed that the term should cease being used within the medical community.In the field of special education, educable (or "educable mentally retarded") refers to MR students with IQs of approximately 5075 who can progress academically to a late elementary level.Trainable (or "trainable mentally retarded") refers to students whose IQs fall below 50 but who are still capable of learning personal hygiene and other living skills in a sheltered setting, such as a group home. In many areas, these terms have been replaced by use of "moderate" and "severe" mental retardation. While the names change, the meaning stays roughly the same in practice.Retarded comes from the Latin retardare, "to make slow, delay, keep back, or hinder," so mental retardation means the same as mentally delayed. The term was recorded in 1426 as a "fact or action of making slower in movement or time." The first record of retarded in relation to being mentally slow was in 1895. The term retarded was used to replace terms like idiot, moron, and imbecilebecause retarded was not (then) a derogatory term. By the 1960s, however, the term had taken on a partially derogatory meaning as well. The noun retard is particularly seen as pejorative; as of 2010, the Special Olympics, Best Buddies and over 100 other organizations are

striving to eliminate the use of the "r-word" (analogous to the "n-word") in everyday conversation.The term mental retardation is a diagnostic term denoting the group of disconnected categories of mental functioning such as idiot, imbecile, and moron derived from early IQ tests, which acquiredpejorative connotations in popular discourse. The term mental retardation acquired pejorative and shameful connotations over the last few decades due to the use of the words retarded and retard as insults. This may have contributed to its replacement with euphemisms such as mentally challenged or intellectually disabled. While developmental disability includes many other disorders (see below),developmental disability and developmental delay (for people under the age of 18), are generally considered more polite terms than mental retardation.In North America mental retardation is subsumed into the broader term developmental disability, which also includes epilepsy, autism, cerebral palsy and other disorders that develop during the developmental period (birth to age 18). Because service provision is tied to the designation developmental disability, it is used by many parents, direct support professionals, and physicians. In the United States, however, in school-based settings, the more specific term mental retardation is still typically used, and is one of 13 categories of disability under which children may be identified for special education services under Public Law 108-446.The phrase intellectual disability is increasingly being used as a synonym for people with significantly belowaverage cognitive ability. These terms are sometimes used as a means of separating general intellectual limitations from specific, limited deficits as well as indicating that it is not an emotional or psychological disability. Intellectual disability may also used to describe the outcome oftraumatic brain injury or lead poisoning or dementing conditions such as Alzheimer's disease. It is not specific to congenital disorders such as Down syndrome.The American Association on Mental Retardation continued to use the term mental retardation until 2006.[23] In June 2006 its members voted to change the name of the organization to the "American Association on Intellectual and Developmental Disabilities," rejecting the options to become the AAID or AADD. Part of the rationale for the double name was that many members worked with people with pervasive developmental disorders, most of whom do not have mental retardation.In the UK, mental handicap had become the common medical term, replacing mental subnormality in Scotland and mental deficiency in England and Wales, until Stephen Dorrell, Secretary of State for Health for the United Kingdom from 199597, changed the NHS's designation to learning disability.[25] The new term is not yet widely understood, and is often

taken to refer to problems affecting schoolwork (the American usage), which are known in the UK as "learning difficulties." British social workers may use "learning difficulty" to refer to both people with MR and those with conditions such as dyslexia.[26] In education, "learning difficulties" is applied to a wide range of conditions: "specific learning difficulty" may refer to dyslexia, dyscalculia or dyspraxia, while "moderate learning difficulties", "severe learning difficulties" and "profound learning difficulties" refer to more significant impairments.In England and Wales between 1983 and 2008 the Mental Health Act 1983 defined "mental impairment" and "severe mental impairment" as "a state of arrested or incomplete development of mind which includes significant/severe impairment of intelligence and social functioning and is associated with abnormally aggressive or seriously irresponsible conduct on the part of the person concerned."[29] As behavior was involved, these were not necessarily permanent conditions: they were defined for the purpose of authorizing detention in hospital or guardianship. The term mental impairment was removed from the Act in November 2008, but the grounds for detention remained. However, English statute law uses mental impairment elsewhere in a less well-defined mannere.g. to allow exemption from taxesimplying that mental retardation without any behavioral problems is what is meant.A BBC poll conducted in the United Kingdom came to the conclusion that 'retard' was the most offensive disability-related word.[30] On the reverse side of that, when a contestant on Celebrity Big Brother live used the phrase "walking like a retard", despite complaints from the public and the charity Mencap, the communications regulator Ofcom did not uphold the complaint saying "it was not used in an offensive context [...] and had been used light-heartedly". It was however noted that two previous similar complaints from other shows were upheld.The term mental retardation is still used in Australia; however, intellectual disability is now the preferred and more commonly used descriptor.People with such disabilities are often not seen as full citizens of society.Person-centered planning and approaches are seen as methods of addressing the continued labelling and exclusion of socially devalued people, such as people with disabilities, encouraging a focus on the person as someone with capacities and gifts, as well as support needs. The self-advocacy movement promotes the right of selfdetermination and self-direction by people with intellectual disabilities, which means allowing people with intellectual disabilities to make decisions about their own lives.Until the middle of the 20th century, people with intellectual disabilities were routinely excluded from public education, or educated away from other typically

developing children. Compared to students with intellectual disabilities who were segregated in special schools, students with intellectual disabilities who are mainstreamed or included in regular classrooms report similar levels of stigma and social self-conception, but more ambitious plans for employment.As adults, people with intellectual disabilities may live independently, with family members, or in different types of institutions organized to support people with intellectual disabilities. About 8% of people with mental retardation live in an institution or group home.In the US, the average lifetime cost of mental retardation amounts to $1,014,000 per person with mental retardation, in 2003 US dollars.[35] This is slightly more than the costs associated with cerebral palsy, and double that associated with serious vision or hearing impairments. Of that $1,014,000, about 14% is due to increased medical expenses (not including what is normally incurred by a person with mental retardation), 10% is due to direct nonmedical expenses, such as the excess cost of special education compared to standard schooling, and 76% is indirect costs accounting for reduced productivity and shortened lifespans. Some expenses, such as costs associated with being a family caregiver or living in a group home, were excluded from this calculation.Abusive terms for intellectual deficits are common insults, and are most commonly applied to non-disabled people. For example, in the 1964 movie Becket, King Henry II calls his son and heir a "cretin." Mental health professionals discourage use of these terms. The abbreviation retard or tard is still used as a generic insult. A BBC survey in 2003 ranked retard as the most offensive disability-related word, ahead of terms such as spastic (not considered offensive in America[36]) and mong.[37] A campaign led by people with intellectual disabilities and the Special Olympics to eliminate the "R word" has resulted in federal legislation to replace the term mentally retarded with the term intellectual disability in some federal statutes.Down syndrome, or Down's syndrome (primarily in the United Kingdom),[1][2] trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th century by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844.[3] Down syndrome was identified as a chromosome 21 trisomy by Dr. Jrme Lejeune in 1959. Down syndrome in a fetus can be identified through chorionic villus sampling oramniocentesis during pregnancy, or in a baby at birth.Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st

chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents (both mothers and fathers) due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees[4] and mice.Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome tend to have a lower-thanaverage cognitive ability, often ranging from mild to moderate disabilities. Many children with Down syndrome who have received family support, enrichment therapies, and tutoring have been known to graduate from high school and college, and enjoy employment in the work force. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100.[5] A small number have a severe to high degree of intellectual disability.Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (an abnormally small chin),[6] an unusually round face, macroglossia[7] (protruding or oversized tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures(the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity.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, despite genetic limitations.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.[14] The Lancetsupported Down's Syndrome. The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate.[15] However, almost 40 years later, the term mongolism still appears in

leading medical texts such as General and Systematic Pathology, 4th Edition, 2004, edited by Professor Sir James Underwood. 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.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."[17] 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.The signs and symptoms Down syndrome are characterized by the neotenization of the brain and body to the fetal state.[19] Down syndrome is characterized by decelerated maturation (neoteny), incomplete morphogenesis (vestigia) and atavisms.[20] Dr. Weihs considers Down syndrome to be a condition of "neoteny" that makes people "like a baby."Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop.Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (abnormally small chin),[6] oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a mongoloid fold),[21][7] muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) or macroglossia,[7][21] "face is flat and broad",[10] a short neck, white spots on the iris known as Brushfield spots,[22] excessive joint laxity including atlantoaxial instability, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, a higher number of ulnar loop dermatoglyphs and short fingers.Growth parameters such as height, weight, and head circumference are smaller in children with DS than with typical individuals of the same age. Adults with DS tend to have short stature and bowed legs[21]the average height for men is 5 feet 1 inch (154 cm) and for women is 4 feet 9 inches (144 cm).[23] Individuals with DS are also at increased risk for obesity as they age[24] and tend to be "round in shape".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.[41] Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35,[42] reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42,[43] also increases the risk of Down syndrome manifesting.Current research (as of 2008) has shown that Down syndrome is due to a random event during the formation of sex cells or pregnancy. There has been no evidence that it is due to parental behavior (other than age) or environmental factors.Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. In the United States, ACOG guidelines recommend that non-invasive screening and invasive testing be offered to all women, regardless of their age, and most likely all physicians currently follow these guidelines. However, some insurance plans will only reimburse invasive testing if a woman is >34 years old or if she has received a high-risk score from a non-invasive screening test.Amniocentesis and CVS are considered invasive procedures, in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. The risks of miscarriage for CVS and amniocentesis are often quoted as 1% and 0.5% respectively. There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester. Due to the nature of screens, each has a significant chance of a false positive, suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic condition. Screen positives must be verified before a Down syndrome diagnosis is made.Even with the best non-invasive screens, the detection rate is 9095% and the rate of false positive is 25%. Inaccuracies can be caused by undetected multiple fetuses (very rare with the ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins.Confirmation of screen positive is normally accomplished with amniocentesis or chorionic villus sampling (CVS). Amniocentesis is an invasive procedure and involves taking amniotic fluid from the amniotic sac and identifying fetal cells. The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate.A non-invasive prenatal test, MaterniT21, detected Down Syndrome

based on fetal DNA in a sample of the mother's blood in 209 of 212 cases (98.6%).[51][52] The International Society for Prenatal Diagnosis finds that this is an advanced screening test which may be of use, in conjunction with genetic counseling, in high-risk cases based upon existing screening strategies. While effective in the diagnosis of Down syndrome, it cannot assess other conditions which can be detected by invasive testing.Medical ethicist Ronald Green argues that parents have an obligation to avoid 'genetic harm' to their offspring,[57] 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."\Some physicians and ethicists are concerned about the ethical ramifications of the high abortion rate for this condition.[59] Conservative commentator George Will called it "eugenics by abortion".[60]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".[61] Doctor David Mortimer has argued in Ethics & Medicine that "Down's syndrome infants have long been disparaged by some doctors and government bean counters."[62] 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."[63] 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."Individuals with DS are at increased risk for dysfunction of the thyroid gland, an organ that helps control metabolism. Low thyroid (hypothyroidism) is most common, occurring in almost a third of those with DS. This can be due to absence of the thyroid at birth (congenital hypothyroidism) or due to attack on the thyroid by the immune system.There is infertility among both

males and females with Down syndrome; males are usually unable to father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[citation needed] 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.[73] Men with DS are almost uniformly infertile, exhibiting defects in spermatogenesis.[74] There have been only three recorded instances of males with Down syndrome fathering children.In the past, prior to current treatment, there was a 3878% incidence of hearing loss in children with Down syndrome. Fortunately, with aggressive, meticulous and compulsive diagnosis and treatment of chronic ear disease (e.g. otitis media, also known as Glue-ear) in children with Down syndrome, approximately 98% of the children have normal hearing levels.However, more recent studies show that hearing impairment and otological problems are still found in 3890% of children with Down syndrome compared to 2.5% for normal children.The elevated occurrence of hearing loss for individuals with Down is not surprising. Every component in the auditory system is potentially adversely affected by Down syndrome.[83] Problems may include:stenosis of the ear canal.malformation of the malleus, incus, and stapes.shortened or narrow cochlea.neural transmission rates that are accelerated (at the level or brainstem) or delayed (at the level of the cortex).weak immune system leading to increased middle ear pathology.Otitis media with effusion is the most common cause of hearing loss in Down children,[82] the infections start at birth and continue throughout the childrens lives.[84] 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.[85] Middle ear problems account for 83% of hearing loss in children with Down syndrome.[85] The degree of hearing loss varies but even a mild degree can have major consequences on speech perception, language acquisition, development and academic achievement[84] if not detected in time and corrected.Early intervention to treat the hearing loss and adapted education is 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.[81] Given this background it is always important to rule out hearing loss as a contributing factor in social and mental

deterioration.The above factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups.[87] However, in recent decades, the life expectancy among persons with Down syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages. Most people with Down Syndrome who live into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia.Treatment of individuals with Down Syndrome depends on the particular manifestations of the condition. For instance, individuals with congenital heart disease may need to undergo major corrective surgery soon after birth. Other individuals may have relatively minor health problems requiring no therapy.Initial examination of newborns with DS should pay particular attention to certain physical signs that are more commonly found in DS. Evaluation of the red reflex can help identify congenital cataracts. Movement of the eyes should be observed to identify strabismus. Constipation should raise concerns for Hirschsprung's disease and feeding problems should prompt intense education to ensure adequate input and nutrition.At birth, an ultrasound of the heart (echocardiogram) should be done immediately in order to identify congenital heart disease (this should be carried out by someone with experience in pediatric cardiology). A complete blood count should be done in order to identify pre-existing leukemia. A hearing test using brainstem auditory evoked responses (BAERS) testing should be performed and any hearing deficits further characterized. The thyroid function should also be tested. Early Childhood Intervention should be involved from birth to help coordinate and plan effective strategies for learning and development.The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down Syndrome for particular diseases.[89] These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed.The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs.[96] Cognitive development in children with Down syndrome is quite variable. It is not currently possible at birth to predict the capabilities of any individual reliably, nor are the number or appearance of physical features predictive of future ability. Since children with Down syndrome have a wide range of abilities, success at school can vary

greatly, which underlines the importance of evaluating children individually. The cognitive problems that are found among children with Down syndrome can also be found among other children. Therefore, parents can use general programs that are offered through the schools or other means.Individuals 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.[97]In education, mainstreaming of children with Down syndrome is becoming less controversial in many countries. For example, there is a presumption of mainstream in many parts of the UK. Mainstreaming is the process whereby students of differing abilities are placed in classes with their chronological peers. 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. Therefore, children with Down syndrome may benefit from mainstreaming provided that some adjustments are made to the curriculum.[98]Some European countries such as Germany and Denmark advise a two-teacher system, whereby the second teacher takes over a group of children with disabilities within the class. A popular alternative is cooperation between special schools and mainstream schools. In cooperation, the core subjects are taught in separate classes, which neither slows down the typical students nor neglects the students with disabilities. Social activities, outings, and many sports and arts activities are performed together, as are all breaks and meals.Speech delay may require speech therapy to improve expressive language. Childhood and adulthood follow-up.As children with DS grow, their progress should be plotted on a growth chart in order to detect deviations from expected growth. Special growth charts are available so that children with DS can be compared with other children with DS. Thyroid function testing should be performed

at 6 months and 12 months of age as well as yearly thereafter. Evaluation of the ears for infection as well as objective hearing tests should be performed at every visit. Formal evaluation for refractive errors requiring glasses should be performed at least every two years with subjective vision assessments with each visit. After the age of three, an x-ray of the neck should be obtained to screen for atlanto-axial instability. As the child ages, yearly symptom screening for obstructive sleep apnea should be performed. Down syndrome is a developmental condition characterized by trisomy of human chromosome 21" (Nelson 619). The extra copy of chromosome21 leads to an over expression of certain genes located on chromosome21.Research by Arron et al. shows that some of the phenotypes associated with Down syndrome can be related to the disregulation of transcription factors (596), and in particular, NFAT. NFAT is controlled in part by two proteins, DSCR1 and DYRK1A; these genes are located on chromosome-21 (Epstein 582). In people with Down syndrome, these proteins have 1.5 times greater concentration than normal (Arron et al. 597). The elevated levels of DSCR1 and DYRK1A keep NFAT primarily located in the cytoplasm rather than in the nucleus, preventing NFATc from activating the transcription of target genes and thus the production of certain proteins.This disregulation was discovered by testing in transgenic mice that had segments of their chromosomes duplicated to simulate a human chromosome-21 trisomy (Arron et al. 597). A test involving grip strength showed that the genetically modified mice had a significantly weaker grip, much like the characteristically poor muscle tone of an individual with Down syndrome (Arron et al. 596). The mice squeezed a probe with a paw and displayed a .2 newton weaker grip (Arron et al. 596). Down syndrome is also characterized by increased socialization. When modified and unmodified mice were observed for social interaction, the modified mice showed as much as 25% more interactions as compared to the unmodified mice .The genes that may be responsible for the phenotypes associated may be located proximal to 21q22.3. Testing by Olson and others in transgenic mice show the duplicated genes presumed to cause the phenotypes are not enough to cause the exact features. While the mice had sections of multiple genes duplicated to approximate a human chromosome-21 triplication, they only showed slight craniofacial abnormalities (68890). The transgenic mice were compared to mice that had no gene duplication by measuring distances on various points on their skeletal structure and comparing them to the normal mice (Olson et al. 687). The exact characteristics of Down syndrome were not observed, so more genes involved for Down Syndrome phenotypes have to be located elsewhere.Reeves et al., using

250 clones of chromosome-21 and specific gene markers, were able to map the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995% accuracy due to multiple redundancies in the mapping techniques. In the study 225 genes were identified (31113).The search for major genes that may be involved in Down syndrome symptoms is normally in the region 21q2121q22.3. However, studies by Reeves et al. show that 41% of the genes on chromosome-21 have no functional purpose, and only 54% of functional genes have a known protein sequence. Functionality of genes was determined by a computer using exon prediction analysis (312). Exon sequence was obtained by the same procedures of the chromosome-21 mapping.Research has led to an understanding that two genes located on chromosome-21, that code for proteins that control gene regulators, DSCR1 and DYRK1A can be responsible for some of the phenotypes associated with Down syndrome. DSCR1 and DYRK1A cannot be blamed outright for the symptoms; there are a lot of genes that have no known purpose. Much more research would be needed to produce any appropriate or ethically acceptable treatment options.Recent use of transgenic mice to study specific genes in the Down syndrome critical region has yielded some results. APP[101] is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties.[102] Another gene, ETS2[103] is Avian Erythroblastosis Virus E26 Oncogene Homolog 2. Researchers have "demonstrated that over-expression of ETS2 results in apoptosis. Transgenic mice over-expressing ETS2 developed a smaller thymus and lymphocyte abnormalities, similar to features observed in Down syndrome."Human chromosome 21 contains five microRNA genes: miR-99a, let-7c, miR-125b-2, miR-155,and miR-802. MiR-155 and miR-802 regulate the expression of the methyl-CpG-binding protein (MeCP2). It has been suggested that the underexpression of MeCP2, secondary to trisomic overexpression of Human chromosome 21 derived miRNAs, may result in aberrant expression of the transcription factorsof CREB1 and MEF2C . This in turn may lead to abnormal brain development through anomalous neuronal gene expression during the critical period of synaptic maturation by alterating neurogenesis, neuronal differentiation, myelination, and synaptogenesis.Advocates for people with Down syndrome point to various factors, such as additional educational support and parental support groups to improve parenting knowledge and skills. There are also strides being made in education, housing, and social settings to create environments that are accessible and supportive to people with Down syndrome. In 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,[105] bringing people with any form of mental or physical disability into general society as much as possible. Such organizations included the National Association for Down Syndrome, the first known organization advocating for Down Syndrome individuals in the United States founded by Kathryn McGee in 1960;[106] MENCAP advocating for all with mental disabilities, which was founded in the UK in 1946 by Judy Fryd;[107] and 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.[108] In many countries, people with Down syndrome are educated in the normal school system; there are increasingly higher-quality opportunities to move from special (segregated) education to regular education settings.Despite these changes, the additional support needs of people with Down syndrome can still pose a challenge to parents and families. Although living with family is preferable to institutionalization, people with Down syndrome often encounter patronizing attitudes and discrimination in the wider community.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 proclaimed by European Down Syndrome Association during their European congress in Palma de Mallorca (febr. 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."[109] In South Africa, Down Syndrome Awareness Day is held every October 20.[110] Organizations such as Special Olympics Hawaii provide year-round sports training for individuals with intellectual disabilities such as Down syndrome.