Hand Stereotypies Distinguish Rett Syndrome from Autism Disorder
Identifieur interne : 001104 ( Main/Exploration ); précédent : 001103; suivant : 001105Hand Stereotypies Distinguish Rett Syndrome from Autism Disorder
Auteurs : Sylvie Goldman [États-Unis] ; Teresa Temudo [Portugal]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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- Pascal (Inist)
English descriptors
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Abstract
Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. Methods: A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Results: Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. Conclusions: These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an Option.
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Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Serviço de Neuropediatria, Departamento da Criança e Adolescente, Centro Hospitalar do Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>2 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Ciências Biomédicas Abel Salazar</s1><s2>Porto</s2><s3>PRT</s3><sZ>2 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Instituto de Ciências Biomédicas Abel Salazar</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0315945</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0315945 INIST</idno><idno type="RBID">Pascal:12-0315945</idno><idno type="wicri:Area/PascalFrancis/Corpus">000137</idno><idno type="stanalyst">FRANCIS 12-0315945 INIST</idno><idno type="wicri:Area/PascalFrancis/Corpus">000360</idno><idno type="wicri:Area/PascalFrancis/Curation">002B77</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000177</idno><idno type="wicri:doubleKey">0885-3185:2012:Goldman S:hand:stereotypies:distinguish</idno><idno type="wicri:Area/Main/Merge">001156</idno><idno type="wicri:Area/Main/Curation">001104</idno><idno type="wicri:Area/Main/Exploration">001104</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Hand Stereotypies Distinguish Rett Syndrome from Autism Disorder</title><author><name sortKey="Goldman, Sylvie" sort="Goldman, Sylvie" uniqKey="Goldman S" first="Sylvie" last="Goldman">Sylvie Goldman</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Saul R. Korey Department of Neurology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Pediatrics, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Serviço de Neuropediatria, Departamento da Criança e Adolescente, Centro Hospitalar do Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>2 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Ciências Biomédicas Abel Salazar</s1><s2>Porto</s2><s3>PRT</s3><sZ>2 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Instituto de Ciências Biomédicas Abel Salazar</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autism</term><term>Hand</term><term>Nervous system diseases</term><term>Rett syndrome</term><term>Stereotypy</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome de Rett</term><term>Pathologie du système nerveux</term><term>Main</term><term>Stéréotypie</term><term>Autisme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. Methods: A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Results: Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. Conclusions: These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an Option.</div></front></TEI><affiliations><list><country><li>Portugal</li><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Goldman, Sylvie" sort="Goldman, Sylvie" uniqKey="Goldman S" first="Sylvie" last="Goldman">Sylvie Goldman</name></region><name sortKey="Goldman, Sylvie" sort="Goldman, Sylvie" uniqKey="Goldman S" first="Sylvie" last="Goldman">Sylvie Goldman</name><name sortKey="Goldman, Sylvie" sort="Goldman, Sylvie" uniqKey="Goldman S" first="Sylvie" last="Goldman">Sylvie Goldman</name></country><country name="Portugal"><noRegion><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name></noRegion><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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