Movement Disorders (revue)

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Evolution of stereotypies in adolescents and women with Rett syndrome

Identifieur interne : 001097 ( Istex/Corpus ); précédent : 001096; suivant : 001098

Evolution of stereotypies in adolescents and women with Rett syndrome

Auteurs : Aglaia Vignoli ; Francesca La Briola ; Maria Paola Canevini

Source :

RBID : ISTEX:64F053D436996B30D55B840086A43E1918A2F802

English descriptors

Abstract

Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed‐up at San Paolo Hospital in Milan, we selected those aged ≥14 years and studied 12 patients (mean age 18. 6 years, range: 14–31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow‐up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients. © 2009 Movement Disorder Society

Url:
DOI: 10.1002/mds.22595

Links to Exploration step

ISTEX:64F053D436996B30D55B840086A43E1918A2F802

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<abstract lang="en">Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed‐up at San Paolo Hospital in Milan, we selected those aged ≥14 years and studied 12 patients (mean age 18. 6 years, range: 14–31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow‐up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients. © 2009 Movement Disorder Society</abstract>
<note type="content">*Potential conflict of interest: Nothing to report.</note>
<subject lang="en">
<genre>Keywords</genre>
<topic>Rett syndrome</topic>
<topic>hand stereotypies</topic>
<topic>adult age</topic>
<topic>movement disorder</topic>
</subject>
<relatedItem type="host">
<titleInfo>
<title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
</titleInfo>
<titleInfo type="abbreviated">
<title>Mov. Disord.</title>
</titleInfo>
<subject>
<genre>article category</genre>
<topic>Brief Report</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>2009</date>
<detail type="volume">
<caption>vol.</caption>
<number>24</number>
</detail>
<detail type="issue">
<caption>no.</caption>
<number>9</number>
</detail>
<extent unit="pages">
<start>1379</start>
<end>1383</end>
<total>5</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">64F053D436996B30D55B840086A43E1918A2F802</identifier>
<identifier type="DOI">10.1002/mds.22595</identifier>
<identifier type="ArticleID">MDS22595</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>

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