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Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

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Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

Auteurs : Jeffrey L. Neul [États-Unis] ; Walter E. Kaufmann [États-Unis] ; Daniel G. Glaze [États-Unis] ; John Christodoulou [Australie] ; Angus J. Clarke [Royaume-Uni] ; Nadia Bahi-Buisson [France] ; Helen Leonard [Australie] ; Mark E. S. Bailey [Royaume-Uni] ; N. Carolyn Schanen [États-Unis] ; Michele Zappella [Italie] ; Alessandra Renieri [Italie] ; Peter Huppke [Allemagne] ; Alan K. Percy [États-Unis]

Source :

Annals of neurology [ 0364-5134 ] ; 2010.

RBID : PMC:3058521

Abstract

Objective

Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Method

RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT.

Results

The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed.

Interpretation

These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058521

DOI: 10.1002/ana.22124
PubMed: 21154482
PubMed Central: 3058521

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<series><title level="j">Annals of neurology</title>
<idno type="ISSN">0364-5134</idno>
<idno type="eISSN">1531-8249</idno>
<imprint><date when="2010">2010</date>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Objective</title>
<p id="P1">Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in <italic>Methyl-CpG-binding protein 2</italic>
 (<italic>MECP2</italic>
). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</p>
</sec>
<sec sec-type="methods" id="S2"><title>Method</title>
<p id="P2">RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed.</p>
</sec>
<sec id="S4"><title>Interpretation</title>
<p id="P4">These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.</p>
</sec>
</div>
</front>
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  <pmc-dir>properties manuscript</pmc-dir>
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<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
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<title-group><article-title>Rett Syndrome: Revised Diagnostic Criteria and Nomenclature</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Neul</surname>
<given-names>Jeffrey L.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kaufmann</surname>
<given-names>Walter E.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Glaze</surname>
<given-names>Daniel G.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Christodoulou</surname>
<given-names>John</given-names>
</name>
<degrees>MBBS, PhD, FRACP, FRCPA</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Clarke</surname>
<given-names>Angus J.</given-names>
</name>
<degrees>FRCP, FRCPCH</degrees>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bahi-Buisson</surname>
<given-names>Nadia</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Leonard</surname>
<given-names>Helen</given-names>
</name>
<degrees>MBChB</degrees>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bailey</surname>
<given-names>Mark E. S.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schanen</surname>
<given-names>N. Carolyn</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zappella</surname>
<given-names>Michele</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Renieri</surname>
<given-names>Alessandra</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A10" ref-type="aff">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Huppke</surname>
<given-names>Peter</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Percy</surname>
<given-names>Alan K.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A12" ref-type="aff">12</xref>
</contrib>
<on-behalf-of>for the RettSearch Consortium</on-behalf-of>
<xref rid="FN2" ref-type="author-notes">*</xref>
</contrib-group>
<aff id="A1"><label>1</label>
 Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</aff>
<aff id="A2"><label>2</label>
 Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</aff>
<aff id="A3"><label>3</label>
 Western Sydney Genetics Program, Children’s Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, Australia</aff>
<aff id="A4"><label>4</label>
 Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK</aff>
<aff id="A5"><label>5</label>
 Pediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, France</aff>
<aff id="A6"><label>6</label>
 Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia</aff>
<aff id="A7"><label>7</label>
 Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK</aff>
<aff id="A8"><label>8</label>
 Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware</aff>
<aff id="A9"><label>9</label>
 Rett Center Versilia Hospital, Viareggio, Italy</aff>
<aff id="A10"><label>10</label>
 Medical Genetics, University of Siena, Siena, Italy</aff>
<aff id="A11"><label>11</label>
 Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</aff>
<aff id="A12"><label>12</label>
 Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama</aff>
<author-notes><corresp id="FN1">Correspondence to Jeffrey L. Neul, Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Room T936, Houston TX 77030, USA. <email>jneul@bcm.tmc.edu</email>
</corresp>
<fn id="FN2"><label>*</label>
<p>Members listed at end of paper</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>1</day>
<month>7</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="ppub"><month>12</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>12</month>
<year>2011</year>
</pub-date>
<volume>68</volume>
<issue>6</issue>
<fpage>944</fpage>
<lpage>950</lpage>
<abstract><sec id="S1"><title>Objective</title>
<p id="P1">Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in <italic>Methyl-CpG-binding protein 2</italic>
 (<italic>MECP2</italic>
). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</p>
</sec>
<sec sec-type="methods" id="S2"><title>Method</title>
<p id="P2">RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed.</p>
</sec>
<sec id="S4"><title>Interpretation</title>
<p id="P4">These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.</p>
</sec>
</abstract>
<contract-num rid="HD1">R13 HD048152-01A1
				||HD</contract-num>
<contract-sponsor id="HD1">National Institute of Child Health & Human Development  : NICHD</contract-sponsor>
</article-meta>
</front>
</pmc>
</record>

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Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

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