Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database
Identifieur interne : 001629 ( Istex/Corpus ); précédent : 001628; suivant : 001630Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database
Auteurs : Philippa Carter ; Jenny Downs ; Ami Bebbington ; Simon Williams ; Peter Jacoby ; Walter E. Kaufmann ; Helen LeonardSource :
- Movement Disorders [ 0885-3185 ] ; 2010-02-15.
English descriptors
Abstract
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population‐based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X, and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with MECP2 mutations were identified. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22851
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ISTEX:5E55C40239FC18F9BAB0676636412332C3259995Le document en format XML
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Kaufmann</name><affiliation><mods:affiliation>Center for Genetic Disorders of Cognition and Behaviour, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Leonard, Helen" sort="Leonard, Helen" uniqKey="Leonard H" first="Helen" last="Leonard">Helen Leonard</name><affiliation><mods:affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population‐based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X, and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with MECP2 mutations were identified. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Philippa Carter MBBS</name><affiliations><json:string>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</json:string></affiliations></json:item><json:item><name>Jenny Downs PhD</name><affiliations><json:string>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</json:string><json:string>School of Physiotherapy and Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia</json:string></affiliations></json:item><json:item><name>Ami Bebbington BSc (Hons)</name><affiliations><json:string>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</json:string></affiliations></json:item><json:item><name>Simon Williams MBBS</name><affiliations><json:string>Departments of Neurology and Pediatric Rehabilitation, Princess Margaret Hospital, Roberts Road, West Perth, Western Australia</json:string></affiliations></json:item><json:item><name>Peter Jacoby MSc</name><affiliations><json:string>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</json:string></affiliations></json:item><json:item><name>Walter E. Kaufmann MD</name><affiliations><json:string>Center for Genetic Disorders of Cognition and Behaviour, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</json:string></affiliations></json:item><json:item><name>Helen Leonard MBChB</name><affiliations><json:string>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Rett syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>video recording</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>stereotypic movement disorder</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genotype</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hand function</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population‐based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X, and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. 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No. 303189;</note><note>National Institutes of Health - No. 1 R01 HD43100‐01A1;</note><note>NHMRC - No. 353514;</note><note>NIH - No. P01 HD24448;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database</title><author><persName><forename type="first">Philippa</forename><surname>Carter</surname><roleName type="degree">MBBS</roleName></persName><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation></author><author><persName><forename type="first">Jenny</forename><surname>Downs</surname><roleName type="degree">PhD</roleName></persName><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation><affiliation>School of Physiotherapy and Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia</affiliation></author><author><persName><forename type="first">Ami</forename><surname>Bebbington</surname><roleName type="degree">BSc (Hons)</roleName></persName><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation></author><author><persName><forename type="first">Simon</forename><surname>Williams</surname><roleName type="degree">MBBS</roleName></persName><affiliation>Departments of Neurology and Pediatric Rehabilitation, Princess Margaret Hospital, Roberts Road, West Perth, Western Australia</affiliation></author><author><persName><forename type="first">Peter</forename><surname>Jacoby</surname><roleName type="degree">MSc</roleName></persName><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation></author><author><persName><forename type="first">Walter E.</forename><surname>Kaufmann</surname><roleName type="degree">MD</roleName></persName><affiliation>Center for Genetic Disorders of Cognition and Behaviour, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</affiliation></author><author><persName><forename type="first">Helen</forename><surname>Leonard</surname><roleName type="degree">MBChB</roleName></persName><note type="correspondence"><p>Correspondence: Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth 6872, WA, Australia===</p></note><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Australia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Center for Genetic Disorders of Cognition and Behaviour, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Rett syndrome</keyword><keyword xml:id="kwd2">video recording</keyword><keyword xml:id="kwd3">stereotypic movement disorder</keyword><keyword xml:id="kwd4">genotype</keyword><keyword xml:id="kwd5">hand function</keyword></keywordGroup><fundingInfo><fundingAgency>National Medical and Health Research Council (NHMRC)</fundingAgency><fundingNumber>303189</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>1 R01 HD43100‐01A1</fundingNumber></fundingInfo><fundingInfo><fundingAgency>NHMRC</fundingAgency><fundingNumber>353514</fundingNumber></fundingInfo><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>P01 HD24448</fundingNumber></fundingInfo><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population‐based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X, and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with <i>MECP2</i> mutations were identified. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of Interest: nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Hand Stereotypies in Rett Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database</title></titleInfo><name type="personal"><namePart type="given">Philippa</namePart><namePart type="family">Carter</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jenny</namePart><namePart type="family">Downs</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation><affiliation>School of Physiotherapy and Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ami</namePart><namePart type="family">Bebbington</namePart><namePart type="termsOfAddress">BSc (Hons)</namePart><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Simon</namePart><namePart type="family">Williams</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>Departments of Neurology and Pediatric Rehabilitation, Princess Margaret Hospital, Roberts Road, West Perth, Western Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Jacoby</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Walter E.</namePart><namePart type="family">Kaufmann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Genetic Disorders of Cognition and Behaviour, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Leonard</namePart><namePart type="termsOfAddress">MBChB</namePart><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia</affiliation><description>Correspondence: Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth 6872, WA, Australia===</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-02-15</dateIssued><dateCaptured encoding="w3cdtf">2009-06-04</dateCaptured><dateValid encoding="w3cdtf">2009-09-25</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">3</extent><extent unit="references">32</extent><extent unit="words">6545</extent></physicalDescription><abstract lang="en">Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population‐based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X, and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with MECP2 mutations were identified. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of Interest: nothing to report.</note><note type="funding">National Medical and Health Research Council (NHMRC) - No. 303189; </note><note type="funding">National Institutes of Health - No. 1 R01 HD43100‐01A1; </note><note type="funding">NHMRC - No. 353514; </note><note type="funding">NIH - No. P01 HD24448; </note><subject lang="en"><genre>Keywords</genre><topic>Rett syndrome</topic><topic>video recording</topic><topic>stereotypic movement disorder</topic><topic>genotype</topic><topic>hand function</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.</note><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>282</start><end>288</end><total>7</total></extent></part></relatedItem><identifier type="istex">5E55C40239FC18F9BAB0676636412332C3259995</identifier><identifier type="DOI">10.1002/mds.22851</identifier><identifier type="ArticleID">MDS22851</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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