Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. There are three types of Down syndrome, the most common being trisomy 21. Mosaic Down syndrome accounts for two per cent of Down syndrome cases, and Translocation Down syndrome accounts for three per cent of cases.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
Easterseals is an American 501(c)(3) nonprofit providing disability services, with additional support areas serving veterans and military families, seniors, and caregivers.
Special education is the practice of educating students in a way that accommodates their individual differences, disabilities, and special needs. This involves the individually planned and systematically monitored arrangement of teaching procedures, adapted equipment and materials, and accessible settings. These interventions are designed to help individuals with special needs achieve a higher level of personal self-sufficiency and success in school and in their community, which may not be available if the student were only given access to a typical classroom education.
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract. MDS is a contiguous gene syndrome – a disorder due to the deletion of multiple gene loci adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p, leading to partial monosomy. There may be unbalanced translocations, or the presence of a ring chromosome 17.
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person who is exposed to alcohol during gestation, as a result of their mother drinking alcohol during pregnancy. The several forms of the condition are: fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), alcohol-related neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). Other terms used are fetal alcohol effects (FAE), partial fetal alcohol effects (PFAE), alcohol-related birth defects (ARBD), and static encephalopathy, but these terms have fallen out of favor and are no longer considered part of the spectrum.
The autism rights movement, also known as the autistic acceptance movement, is a social movement allied with disability rights that emphasizes a neurodiversity paradigm, viewing autism as a disability with variations in the human brain rather than as a disease to be cured. The movement advocates for several goals, including greater acceptance of autistic traits and behaviors; reforms of services – i.e. services that focus on improving quality of life and well-being instead of suppression and masking of autistic traits that are adaptive or not harmful or imitations of social behaviors of allistic (non-autistic) peers ; the creation of social networks and events that allow autistic people to socialize on their own terms; and the recognition of the autistic community as a minority group.
A child of deaf adult, often known by the acronym CODA, is a person who was raised by one or more deaf parents or legal guardians. Ninety percent of children born to deaf adults can hear normally, resulting in a significant and widespread community of CODAs around the world, although whether the child is hearing, deaf, or hard of hearing has no effect on the definition. The acronym KODA is sometimes used to refer to CODAs under the age of 18.
Rumination syndrome, or merycism, is a chronic motility disorder characterized by effortless regurgitation of most meals following consumption, due to the involuntary contraction of the muscles around the abdomen. There is no retching, nausea, heartburn, odour, or abdominal pain associated with the regurgitation as there is with typical vomiting, and the regurgitated food is undigested. The disorder has been historically documented as affecting only infants, young children, and people with cognitive disabilities . It is increasingly being diagnosed in a greater number of otherwise healthy adolescents and adults, though there is a lack of awareness of the condition by doctors, patients, and the general public.
Early childhood intervention (ECI) is a support and educational system for very young children who have been victims of, or who are at high risk for child abuse and/or neglect as well as children who have developmental delays or disabilities. Some states and regions have chosen to focus these services on children with developmental disabilities or delays, but Early Childhood Intervention is not limited to children with these disabilities.
In clinical diagnostic and functional development, special needs refers to individuals who require assistance for disabilities that may be medical, mental, or psychological. Guidelines for clinical diagnosis are given in both the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases 9th edition. Special needs can range from people with autism, cerebral palsy, Down syndrome, dyslexia, dyscalculia, dyspraxia, dysgraphia, blindness, deafness, ADHD, and cystic fibrosis. They can also include cleft lips and missing limbs. The types of special needs vary in severity, and a student with a special need is classified as being a severe case when the student's IQ is between 20 and 35. These students typically need assistance in school, and have different services provided for them to succeed in a different setting.
The American Association on Intellectual and Developmental Disabilities (AAIDD) is an American non-profit organization focusing on intellectual disability and related developmental disabilities. AAIDD has members in the United States and more than 50 other countries.
The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.
Learning disability, learning disorder, or learning difficulty is a condition in the brain that causes difficulties comprehending or processing information and can be caused by several different factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner. Therefore, some people can be more accurately described as having a "learning difference", thus avoiding any misconception of being disabled with a possible lack of an ability to learn and possible negative stereotyping. In the United Kingdom, the term "learning disability" generally refers to an intellectual disability, while conditions such as dyslexia and dyspraxia are usually referred to as "learning difficulties".
Intellectual disability (ID), also known as general learning disability and mental retardation, is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday, general living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in adaptive functioning often compromises an individual's independence and ability to meet their social responsibility.
Kathryn "Kay" McGee was an American activist, recognized for founding two of the first organizations for the benefit of those with Down Syndrome. She worked seeking recognition, rights and opportunities for people with Down Syndrome.
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
Institutionalization of children with disabilities in Russia is the placement of children, who have been abandoned or whose parents cannot support them, into a facility which can be similar to an orphanage. This often occurs in countries where alternative methods of care are not available. The definition of an institution can be ambiguous; the "Report of the Ad Hoc Expert Group on the Transition from Institutional to Community-based Care" defines an institution based on the following guidelines:
A termination for medical reasons (TFMR) is an induced abortion motivated by medical indications involving the fetus or mother. In some countries, health risks are the only basis for obtaining a legal abortion. Prenatal screening can allow early diagnosis, and abortion if desired or necessary. Some medical organizations advocate the offer of diagnostic testing by chorionic villi sampling, and amniocentesis to all pregnant women, as a matter of course.
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