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Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome leading to the complete or partial deletion of the pseudoautosomal regions in the affected X chromosome. Most people have two sex chromosomes. The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods or breasts without hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and hypothyroidism occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Vision and hearing problems also occur more often than average.
Disability is the experience of any condition that makes it more difficult for a person to do certain activities or have equitable access within a given society. Disabilities may be cognitive, developmental, intellectual, mental, physical, sensory, or a combination of multiple factors. Disabilities can be present from birth or can be acquired during a person's lifetime. Historically, disabilities have only been recognized based on a narrow set of criteria—however, disabilities are not binary and can be present in unique characteristics depending on the individual. A disability may be readily visible, or invisible in nature.
Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than 147 centimetres, regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft). Disproportionate dwarfism is characterized by either short limbs or a short torso. In cases of proportionate dwarfism, both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child depending upon the underlying condition.
Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. Growth hormone is now produced by recombinant DNA technology and is prescribed for a variety of reasons. GH therapy has been a focus of social and ethical controversies for 50 years.
Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 15. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents.
Human height or stature is the distance from the bottom of the feet to the top of the head in a human body, standing erect. It is measured using a stadiometer, in centimetres when using the metric system or SI system, or feet and inches when using United States customary units or the imperial system.
The medical model of disability, or medical model, is based in a biomedical perception of disability. This model links a disability diagnosis to an individual's physical body. The model supposes that this disability may reduce the individual's quality of life and aims to diminish or correct this disability with medical intervention. It is often contrasted with the social model of disability.
Octreotide, sold under the brand name Sandostatin among others, is an octapeptide that mimics natural somatostatin pharmacologically, though it is a more potent inhibitor of growth hormone, glucagon, and insulin than the natural hormone. It was first synthesized in 1979 by the chemist Wilfried Bauer, and binds predominantly to the somatostatin receptors SSTR2 and SSTR5.
Action Medical Research, previously The National Fund for Research into Crippling Diseases, is a British medical research charity, founded in 1952, that focusses on funding research to prevent and treat disease and disability in babies and children.
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called short. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and sex, which corresponds to the shortest 2.3% of individuals in that population.
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.
Despite the scientifically well-established nature of attention deficit hyperactivity disorder (ADHD), its diagnosis, and its treatment, each of these has been controversial since the 1970s. The controversies involve clinicians, teachers, policymakers, parents, and the media. Positions range from the view that ADHD is within the normal range of behavior to the hypothesis that ADHD is a genetic condition. Other areas of controversy include the use of stimulant medications in children, the method of diagnosis, and the possibility of overdiagnosis. In 2009, the National Institute for Health and Care Excellence, while acknowledging the controversy, stated that the current treatments and methods of diagnosis are based on the dominant view of the academic literature.
Social Security Disability Insurance is a payroll tax-funded federal insurance program of the United States government. It is managed by the Social Security Administration and designed to provide monthly benefits to people who have a medically determinable disability that restricts their ability to be employed. SSDI does not provide partial or temporary benefits but rather pays only full benefits and only pays benefits in cases in which the disability is "expected to last at least one year or result in death." Relative to disability programs in other countries in the Organisation for Economic Co-operation and Development (OECD), the SSDI program in the United States has strict requirements regarding eligibility.
Sleep medicine is a medical specialty or subspecialty devoted to the diagnosis and therapy of sleep disturbances and disorders. From the middle of the 20th century, research has provided increasing knowledge of, and answered many questions about, sleep–wake functioning. The rapidly evolving field has become a recognized medical subspecialty in some countries. Dental sleep medicine also qualifies for board certification in some countries. Properly organized, minimum 12-month, postgraduate training programs are still being defined in the United States. In some countries, the sleep researchers and the physicians who treat patients may be the same people.
The Ashley Treatment refers to a controversial set of medical procedures performed on an American child, "Ashley X". Ashley, born in 1997, has severe developmental disabilities due to static encephalopathy; she is assumed to be at an infant level mentally, but continues to grow physically. The treatment included growth attenuation via high-dose estrogens, hysterectomy, bilateral breast bud removal, and appendectomy. In June 2016, after 18 years of searching, Ashley's condition was determined to be the result of a de novo and non-mosaic single-nucleotide polymorphism in the GRIN1 gene, which is implicated in neurotransmission.
Gastroenterocolitis is a condition characterized by inflammation of the stomach, small intestines, and colon.
Child euthanasia is a form of euthanasia that is applied to children who are gravely ill or have significant birth defects. In 2005, the Netherlands became the first country since the end of Nazi Germany to decriminalize euthanasia for infants with hopeless prognosis and intractable pain. Nine years later, Belgium amended its 2002 Euthanasia Act to extend the rights of euthanasia to minors. Like euthanasia, there is world-wide public controversy and ethical debate over the moral, philosophical and religious issues of child euthanasia.
The Black Stork, also known as Are You Fit To Marry?, is a 1917 American motion picture film both written by and starring Harry J. Haiselden, who was the chief surgeon at the German-American Hospital in Chicago. The Black Stork is Haiselden's fictionalized account of his eugenic infanticide of John Bollinger, who was born with severe disabilities. The film depicts Haiselden's fictionalized story of a woman who has a nightmare of a severely disabled child being a menace to society. Once awoken from the nightmare, she visits a doctor and realizes all was fine with her child. However, the purpose of the film was not to have a happy ending and move on. The purpose was to basically warn people, especially teenagers, of the dangers of sexual promiscuity and "race mixing", as these actions were believed to be the cause of disabilities in children.
Approximately 12 million French citizens are affected by disability. The history of disability activism in France dates back to the French Revolution when the national obligation to help disabled citizens was recognized, but it was "unclear whether or not such assistance should be public or private." Disabled civilians began to form the first associations to demand equal rights and integration in the workforce after the First World War. Between 1940 and 1945, 45,000 people with intellectual disabilities died from neglect in French psychiatric asylums. After the Second World War, parents of disabled children and charities created specialized institutions for disabled children for whom school was not accessible. In 2018, the French Government began to roll out a disability policy which aimed to increase the allowance for disabled adults to €900 per month, improve the digital accessibility of public services, and develop easy-to-read and understand language among other goals.
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
References
- ↑ Joyce M. Lee and Joel D. Howell.Tall Girls: The Social Shaping of a Medical Therapy Archives of Pediatrics & Adolescent Medicine, Vol. 160 No. 10, October 2006.
- ↑ Wilfond, Benjamin S.; Miller, Paul Steven; Korfiatis, Carolyn; Diekema, Douglas S.; Dudzinski, Denise M.; Goering, Sara (2010-11-12). "Navigating Growth Attenuation in Children with Profound Disabilities". Hastings Center Report. 40 (6). Wiley: 27–40. doi:10.1002/j.1552-146x.2010.tb00075.x. ISSN 0093-0334.
- ↑ McDonnell, Cheryl (2016-07-14). "Opinion: Bonsai Babies". Disabilities Australia. Retrieved 2020-12-27.
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