Deafblindness
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Deafblindness
Deafblindness is the condition of little or no useful hearing and little or no useful sight. Different degrees of vision loss and auditory loss occur within each individual. Because of this inherent diversity, each deafblind individual's needs regarding lifestyle, communication, education, and work need to be addressed based on their degree of dual-modality deprivation, to improve their ability to live independently. In 1994, an estimated 35,000–40,000 United States residents were medically deafblind. Laura Bridgman was the first American deafblind person known to become well educated. Helen Keller was a well-known example of an educated deafblind individual. To further her lifelong mission to help the deafblind community to expand its horizons and gain opportunities, the Helen Keller National Center for Deaf-Blind Youths and Adults (also called the Helen Keller National Center or HKNC), with a residential training program in Sands Point, New York, was established in 1967 by ...
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Helen Keller National Center For Deaf-Blind Youths And Adults
The Helen Keller National Center for Deaf-Blind Youths and Adults (also known as the Helen Keller National Center or HKNC) is a foundation in the United States that provides services for individuals who, like Helen Keller, are both blind and deaf. Authorized by an Act of Congress in 1967, the Center provides nationwide services for people who are Deafblindness, deaf-blind according to the definition of deaf-blindness in the Helen Keller Act. It operates a residential rehabilitation and training facility at its headquarters in Sands Point, New York, which opened in 1976, and a system of ten regional field offices, also supporting families and professional carers. In 2010 the Center served 72 adult training clients and specialized short term training for 26 clients; in addition the regional programs served 1,478 consumers, 441 families, and 881 organizations. The organization provides independent living skills training, referral, employment training, counseling, and transition assi ...
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Deaf Community
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written with a lower case ''d''. It later came to be used in a cultural context to refer to those who primarily communicate with a deafness aid or through sign language regardless of hearing ability, often capitalized as ''Deaf'' and referred to as "big D Deaf" in speech and sign. The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. Medical context In a medical context, deafness is defined as a degree of hearing difficulties such that a person is unable to understand speech, even in the presence of amplification. In profound deafness, even ...
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Hearing (sense)
Hearing, or auditory perception, is the ability to perceive sounds through an organ, such as an ear, by detecting vibrations as periodic changes in the pressure of a surrounding medium. The academic field concerned with hearing is auditory science. Sound may be heard through solid Solid is a state of matter where molecules are closely packed and can not slide past each other. Solids resist compression, expansion, or external forces that would alter its shape, with the degree to which they are resisted dependent upon the ..., liquid, or gaseous matter. It is one of the traditional five senses. Partial or total inability to hear is called hearing loss. In humans and other vertebrates, hearing is performed primarily by the auditory system: mechanical waves, known as vibrations, are detected by the ear and transduction (physiology), transduced into nerve impulses that are perceived by the brain (primarily in the temporal lobe). Like touch, audition requires sensitivity ...
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Cochleosaccular Degeneration With Progressive Cataracts
Cochleosaccular degeneration with progressive cataracts, also known as autosomal dominant progressive sensorineural hearing loss and cataracts is a rare genetic disorder characterized by the adult-onset combination of cochleosaccular degeneration and progressive cataract which is transmitted as an autosomal dominant trait for generations in entire families, essentially resulting in familial deafblindness. Additional features include unstable gait. Only 15 cases from 2 multi-generational families in the United States and Italy (respectively) have been described in medical literature. Cases *1982: J B Nadol Jr. ''et al.'' describes 7 members from 5 sibships belonging to a four-generation American family. The proband was a 65-year-old man who had died as a result of a motorcycle accident. He had a cataract already present in his right eye since birth (a clinical finding known as congenital cataract Congenital cataracts are a lens opacity that is present at birth. Congenital ...
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Marshall Syndrome
Marshall syndrome is a genetic disorder of the connective tissue that can cause hearing loss. The three most common areas to be affected are the eyes, which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the same. The condition is named for D. Weber. Presentation Eyes Myopia is the most common eye problem in Marshall syndrome. Cataracts also occur more frequently and detached retina less frequently than in Stickler syndrome. Myopia also is the most common problem with the eyes in Stickler syndrome. In the latter syndrome, extreme myopia may lead to severe eye problems such as detached retina more frequently than in Marshall syndrome. Joints The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler syndrome usually have very hyperextensible joints. As an affected child gets older, they ...
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Congenital Rubella Syndrome
Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects. The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems. Rubella infection in pregnancy can result in various outcomes ranging from asymptomatic infection to congenital defects to miscarriage and fetal death. If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected. If the infection occurs 12–20 weeks after conception, the risk is 20%. Infants are not generally affected if rubella is contracted during the third trimester. Diagnosis of congenital rubella syndrome is made through a series of clinical and laboratory findings and management is based on the infant's clinical presentation. Maintaining rubella outbreak control via vaccination is essential in preventing congenital rubella infection and congenital rubella syndrome ...
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Stickler Syndrome
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965. Signs and symptoms Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called the Pierre Robin sequence, is common ...
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Usher Syndrome
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is the most common cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II, and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern. The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany to as low as 1 in 28,000 in Norway. Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish popu ...
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Patau Syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis; the mosaic form is caused by nondisjunction during mitosis. Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being th ...
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Genetic Conditions
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genetic ...
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