Usher syndrome: Definition and estimate of prevalence from two high-risk populations
Identifieur interne : 004A87 ( Istex/Checkpoint ); précédent : 004A86; suivant : 004A88Usher syndrome: Definition and estimate of prevalence from two high-risk populations
Auteurs : J. A. Boughman [États-Unis] ; M. Vernon [États-Unis] ; K. A. Shaver [États-Unis]Source :
- Journal of Chronic Diseases [ 0021-9681 ] ; 1983.
Abstract
The Usher Syndrome (US) refers to the combined neurosensory deficits of profound hearing impairment and retinitis pigmentosa. We have obtained information on 600 cases of deaf-blindness from the registry of the Helen Keller National Center for Deaf Blind Youths and Adults (HKNC). Of these, 54% met the diagnostic criteria of US, although only 23.8% were so diagnosed. More extensive analysis of 189 Usher clients from HKNC showed an excess of males, some variability in audiograms, and wide ophthalmologic variation. Genetic analysis of 113 sibships showed a segregation ratio consistent with recessive inheritance. The Acadian population of Louisiana has a high frequency of US which contributes significantly to the deaf population of the state. Among 48 cases from the Louisiana School for the Deaf, there was an excess of males, more variability in audiograms than expected, and an increased segregation ratio in the 26 informative sibships. Estimates of prevalence obtained using registry data and statistics from Louisiana clearly suggest that the previous estimate of 2.4 per 100.000 is too low for the United States. Recognizing problems with ascertainment, our prevalence estimate of 4.4 per 100.000 is still considered quite conservative.
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DOI: 10.1016/0021-9681(83)90147-9
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Shaver</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:74BF9B19FEC198C8255B561E96BF92AB84DE13FC</idno><date when="1983" year="1983">1983</date><idno type="doi">10.1016/0021-9681(83)90147-9</idno><idno type="url">https://api.istex.fr/document/74BF9B19FEC198C8255B561E96BF92AB84DE13FC/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">004470</idno><idno type="wicri:Area/Istex/Curation">004470</idno><idno type="wicri:Area/Istex/Checkpoint">004A87</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Usher syndrome: Definition and estimate of prevalence from two high-risk populations</title><author><name sortKey="Boughman, J A" sort="Boughman, J A" uniqKey="Boughman J" first="J. A." last="Boughman">J. A. Boughman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Vernon, M" sort="Vernon, M" uniqKey="Vernon M" first="M." last="Vernon">M. Vernon</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychology/Psychobiology, Western Maryland College, Westminster, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Shaver, K A" sort="Shaver, K A" uniqKey="Shaver K" first="K. A." last="Shaver">K. A. Shaver</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Chronic Diseases</title><title level="j" type="abbrev">JCDIS</title><idno type="ISSN">0021-9681</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1983">1983</date><biblScope unit="volume">36</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="595">595</biblScope><biblScope unit="page" to="603">603</biblScope></imprint><idno type="ISSN">0021-9681</idno></series><idno type="istex">74BF9B19FEC198C8255B561E96BF92AB84DE13FC</idno><idno type="DOI">10.1016/0021-9681(83)90147-9</idno><idno type="PII">0021-9681(83)90147-9</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0021-9681</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Usher Syndrome (US) refers to the combined neurosensory deficits of profound hearing impairment and retinitis pigmentosa. We have obtained information on 600 cases of deaf-blindness from the registry of the Helen Keller National Center for Deaf Blind Youths and Adults (HKNC). Of these, 54% met the diagnostic criteria of US, although only 23.8% were so diagnosed. More extensive analysis of 189 Usher clients from HKNC showed an excess of males, some variability in audiograms, and wide ophthalmologic variation. Genetic analysis of 113 sibships showed a segregation ratio consistent with recessive inheritance. The Acadian population of Louisiana has a high frequency of US which contributes significantly to the deaf population of the state. Among 48 cases from the Louisiana School for the Deaf, there was an excess of males, more variability in audiograms than expected, and an increased segregation ratio in the 26 informative sibships. Estimates of prevalence obtained using registry data and statistics from Louisiana clearly suggest that the previous estimate of 2.4 per 100.000 is too low for the United States. Recognizing problems with ascertainment, our prevalence estimate of 4.4 per 100.000 is still considered quite conservative.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li><li>Virginie</li></region></list><tree><country name="États-Unis"><region name="Virginie"><name sortKey="Boughman, J A" sort="Boughman, J A" uniqKey="Boughman J" first="J. A." last="Boughman">J. A. Boughman</name></region><name sortKey="Shaver, K A" sort="Shaver, K A" uniqKey="Shaver K" first="K. A." last="Shaver">K. A. Shaver</name><name sortKey="Vernon, M" sort="Vernon, M" uniqKey="Vernon M" first="M." last="Vernon">M. Vernon</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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