Usher syndrome: Definition and estimate of prevalence from two high-risk populations
Identifieur interne : 004470 ( Istex/Corpus ); précédent : 004469; suivant : 004471Usher syndrome: Definition and estimate of prevalence from two high-risk populations
Auteurs : J. A. Boughman ; M. Vernon ; K. A. ShaverSource :
- 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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Box 33, Richmond, VA 23298, U.S.A.</mods:affiliation></affiliation></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></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><mods:affiliation>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298, U.S.A.</mods:affiliation></affiliation></author><author><name sortKey="Vernon, M" sort="Vernon, M" uniqKey="Vernon M" first="M." last="Vernon">M. Vernon</name><affiliation><mods:affiliation>Department of Psychology/Psychobiology, Western Maryland College, Westminster, Maryland, U.S.A.</mods:affiliation></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><mods:affiliation>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298, U.S.A.</mods:affiliation></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><istex><corpusName>elsevier</corpusName><author><json:item><name>J.A. Boughman</name><affiliations><json:string>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298, U.S.A.</json:string></affiliations></json:item><json:item><name>M. Vernon</name><affiliations><json:string>Department of Psychology/Psychobiology, Western Maryland College, Westminster, Maryland, U.S.A.</json:string></affiliations></json:item><json:item><name>K.A. Shaver</name><affiliations><json:string>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298, U.S.A.</json:string></affiliations></json:item></author><language><json:string>eng</json:string></language><abstract>The Usher Syndrome (US) refers to the combined neurosensory deficits of profound hearing impairment and retinitis pigmentosa. 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Box 33, Richmond, VA 23298, U.S.A.</affiliation></author><author><persName><forename type="first">M.</forename><surname>Vernon</surname></persName><affiliation>Department of Psychology/Psychobiology, Western Maryland College, Westminster, Maryland, U.S.A.</affiliation></author><author><persName><forename type="first">K.A.</forename><surname>Shaver</surname></persName><affiliation>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298, U.S.A.</affiliation></author></analytic><monogr><title level="j">Journal of Chronic Diseases</title><title level="j" type="abbrev">JCDIS</title><idno type="pISSN">0021-9681</idno><idno type="PII">S0021-9681(00)X0292-5</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="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></monogr><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></fileDesc><profileDesc><creation><date>1983</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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.</p></abstract></profileDesc><revisionDesc><change when="1983-01-03">Modified</change><change when="1983">Published</change></revisionDesc></teiHeader></istex:fulltextTEI></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla"><item-info><jid>JCDIS</jid><aid>83901479</aid><ce:pii>0021-9681(83)90147-9</ce:pii><ce:doi>10.1016/0021-9681(83)90147-9</ce:doi><ce:copyright type="unknown" year="1983"></ce:copyright></item-info><head><ce:article-footnote><ce:label>☆</ce:label><ce:note-para>This is paper No. 157 from the Department of Human Genetics, Medical College of Virginia.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Original article</ce:textfn></ce:dochead><ce:title>Usher syndrome: Definition and estimate of prevalence from two high-risk populations</ce:title><ce:author-group><ce:author><ce:given-name>J.A.</ce:given-name><ce:surname>Boughman</ce:surname><ce:cross-ref refid="COR1"><ce:sup>∗</ce:sup></ce:cross-ref><ce:cross-ref refid="AFF1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>M.</ce:given-name><ce:surname>Vernon</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>K.A.</ce:given-name><ce:surname>Shaver</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="AFF1"><ce:label>a</ce:label><ce:textfn>Department of Human Genetics, Medical College of Virginia, P.O. Box 33, Richmond, VA 23298, U.S.A.</ce:textfn></ce:affiliation><ce:affiliation id="AFF2"><ce:label>b</ce:label><ce:textfn>Department of Psychology/Psychobiology, Western Maryland College, Westminster, Maryland, U.S.A.</ce:textfn></ce:affiliation><ce:correspondence id="COR1"><ce:label>∗</ce:label><ce:text>Author to whom all correspondence should be addressed.</ce:text></ce:correspondence></ce:author-group><ce:date-revised day="3" month="1" year="1983"></ce:date-revised><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para>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.</ce:simple-para></ce:abstract-sec></ce:abstract></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Usher syndrome: Definition and estimate of prevalence from two high-risk populations</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Usher syndrome: Definition and estimate of prevalence from two high-risk populations</title></titleInfo><name type="personal"><namePart type="given">J.A.</namePart><namePart type="family">Boughman</namePart><affiliation>Department of Human Genetics, Medical College of Virginia, P.O. 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Box 33, Richmond, VA 23298, U.S.A.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1983</dateIssued><dateModified encoding="w3cdtf">1983-01-03</dateModified><copyrightDate encoding="w3cdtf">1983</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract 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.</abstract><note>This is paper No. 157 from the Department of Human Genetics, Medical College of Virginia.</note><note type="content">Section title: Original article</note><relatedItem type="host"><titleInfo><title>Journal of Chronic Diseases</title></titleInfo><titleInfo type="abbreviated"><title>JCDIS</title></titleInfo><genre type="Journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">1983</dateIssued></originInfo><identifier type="ISSN">0021-9681</identifier><identifier type="PII">S0021-9681(00)X0292-5</identifier><part><date>1983</date><detail type="volume"><number>36</number><caption>vol.</caption></detail><detail type="issue"><number>8</number><caption>no.</caption></detail><extent unit="issue pages"><start>551</start><end>608</end></extent><extent unit="pages"><start>595</start><end>603</end></extent></part></relatedItem><identifier type="istex">74BF9B19FEC198C8255B561E96BF92AB84DE13FC</identifier><identifier type="DOI">10.1016/0021-9681(83)90147-9</identifier><identifier type="PII">0021-9681(83)90147-9</identifier><recordInfo><recordContentSource>ELSEVIER</recordContentSource></recordInfo></mods></metadata><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/74BF9B19FEC198C8255B561E96BF92AB84DE13FC/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH</classCode><classCode scheme="WOS">INFECTIOUS DISEASES</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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