Rett syndrome: Revised diagnostic criteria and nomenclature
Identifieur interne : 002792 ( Istex/Corpus ); précédent : 002791; suivant : 002793Rett syndrome: Revised diagnostic criteria and nomenclature
Auteurs : Guillaume Jeffrey L. Neul ; Walter E. Kaufmann ; Daniel G. Glaze ; John Christodoulou ; Angus J. Clarke ; Nadia Bahi-Buisson ; Helen Leonard ; Mark E. S. Bailey ; N. Carolyn Schanen ; Michele Zappella ; Alessandra Renieri ; Peter Huppke ; Alan K. PercySource :
- Annals of Neurology [ 0364-5134 ] ; 2010-12.
English descriptors
- KwdEn :
- Alessandra renieri, Atypical, Atypical form, Atypical forms, Baylor college, Cardiff university, Carolyn schanen, Cdkl5 mutations, Child health research, Clear evidence, Clinical condition, Clinical criteria, Clinical diagnosis, Clinical feature, Clinical features, Clinical trials, Complete loss, Congenital, Congenital variant, Consensus criteria, Criterion, Diagnostic criteria, Dupont hospital, Early seizure variant, Exclusion criteria, Gait abnormalities, Genet, Genetic disorders, Head growth, Helen leonard, International rett syndrome foundation, Iterative process, Kennedy krieger institute, Large cohort, Main criteria, Mecp2, Mecp2 locus, Mecp2 mutation, Mecp2 mutations, Mrna isoform, Mutation, Necessary criteria, Neul, Neurological dysfunction, Neurology, Other loci, Pediatr neurol, Postnatal deceleration, Purposeful hand, Rare individuals, Recent reports, Recent work, Rett, Rett disorder, Rett syndrome, Rettsearch, Rettsearch consortium, Specific sequence variations, Specific variant forms, Speech variant, Supportive criteria, Syndrome, Telethon institute, Treatment trials, Variant, Variant forms, West perth, Western australia.
- Teeft :
- Alessandra renieri, Atypical, Atypical form, Atypical forms, Baylor college, Cardiff university, Carolyn schanen, Cdkl5 mutations, Child health research, Clear evidence, Clinical condition, Clinical criteria, Clinical diagnosis, Clinical feature, Clinical features, Clinical trials, Complete loss, Congenital, Congenital variant, Consensus criteria, Criterion, Diagnostic criteria, Dupont hospital, Early seizure variant, Exclusion criteria, Gait abnormalities, Genet, Genetic disorders, Head growth, Helen leonard, International rett syndrome foundation, Iterative process, Kennedy krieger institute, Large cohort, Main criteria, Mecp2, Mecp2 locus, Mecp2 mutation, Mecp2 mutations, Mrna isoform, Mutation, Necessary criteria, Neul, Neurological dysfunction, Neurology, Other loci, Pediatr neurol, Postnatal deceleration, Purposeful hand, Rare individuals, Recent reports, Recent work, Rett, Rett disorder, Rett syndrome, Rettsearch, Rettsearch consortium, Specific sequence variations, Specific variant forms, Speech variant, Supportive criteria, Syndrome, Telethon institute, Treatment trials, Variant, Variant forms, West perth, Western australia.
Abstract
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 to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Url:
DOI: 10.1002/ana.22124
Links to Exploration step
ISTEX:D5C8C3CB88527299EA74C14565BDEA531C5B92ECLe document en format XML
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Neul</name><affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: jneul@bcm.tmc.edu</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, BCM320, Houston TX 77030</mods:affiliation></affiliation></author><author><name sortKey="Kaufmann, Walter E" sort="Kaufmann, Walter E" uniqKey="Kaufmann W" first="Walter E." last="Kaufmann">Walter E. Kaufmann</name><affiliation><mods:affiliation>Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD</mods:affiliation></affiliation></author><author><name sortKey="Glaze, Daniel G" sort="Glaze, Daniel G" uniqKey="Glaze D" first="Daniel G." last="Glaze">Daniel G. Glaze</name><affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX</mods:affiliation></affiliation></author><author><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><affiliation><mods:affiliation>Western Sydney Genetics Program, Children's Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Clarke, Angus J" sort="Clarke, Angus J" uniqKey="Clarke A" first="Angus J." last="Clarke">Angus J. Clarke</name><affiliation><mods:affiliation>Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK</mods:affiliation></affiliation></author><author><name sortKey="Bahi Uisson, Nadia" sort="Bahi Uisson, Nadia" uniqKey="Bahi Uisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation><mods:affiliation>Pediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, France</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, Perth, Western Australia</mods:affiliation></affiliation></author><author><name sortKey="Bailey, Mark E S" sort="Bailey, Mark E S" uniqKey="Bailey M" first="Mark E. S." last="Bailey">Mark E. S. Bailey</name><affiliation><mods:affiliation>Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK</mods:affiliation></affiliation></author><author><name sortKey="Schanen, N Carolyn" sort="Schanen, N Carolyn" uniqKey="Schanen N" first="N. Carolyn" last="Schanen">N. Carolyn Schanen</name><affiliation><mods:affiliation>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</mods:affiliation></affiliation></author><author><name sortKey="Zappella, Michele" sort="Zappella, Michele" uniqKey="Zappella M" first="Michele" last="Zappella">Michele Zappella</name><affiliation><mods:affiliation>Rett Center Versilia Hospital, Viareggio, Italy</mods:affiliation></affiliation></author><author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name><affiliation><mods:affiliation>Medical Genetics, University of Siena, Siena, Italy</mods:affiliation></affiliation></author><author><name sortKey="Huppke, Peter" sort="Huppke, Peter" uniqKey="Huppke P" first="Peter" last="Huppke">Peter Huppke</name><affiliation><mods:affiliation>Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Percy, Alan K" sort="Percy, Alan K" uniqKey="Percy A" first="Alan K." last="Percy">Alan K. 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criteria</term><term>Mecp2</term><term>Mecp2 locus</term><term>Mecp2 mutation</term><term>Mecp2 mutations</term><term>Mrna isoform</term><term>Mutation</term><term>Necessary criteria</term><term>Neul</term><term>Neurological dysfunction</term><term>Neurology</term><term>Other loci</term><term>Pediatr neurol</term><term>Postnatal deceleration</term><term>Purposeful hand</term><term>Rare individuals</term><term>Recent reports</term><term>Recent work</term><term>Rett</term><term>Rett disorder</term><term>Rett syndrome</term><term>Rettsearch</term><term>Rettsearch consortium</term><term>Specific sequence variations</term><term>Specific variant forms</term><term>Speech variant</term><term>Supportive criteria</term><term>Syndrome</term><term>Telethon institute</term><term>Treatment trials</term><term>Variant</term><term>Variant forms</term><term>West perth</term><term>Western australia</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Alessandra renieri</term><term>Atypical</term><term>Atypical form</term><term>Atypical forms</term><term>Baylor college</term><term>Cardiff university</term><term>Carolyn schanen</term><term>Cdkl5 mutations</term><term>Child health research</term><term>Clear evidence</term><term>Clinical condition</term><term>Clinical criteria</term><term>Clinical diagnosis</term><term>Clinical feature</term><term>Clinical features</term><term>Clinical trials</term><term>Complete loss</term><term>Congenital</term><term>Congenital variant</term><term>Consensus criteria</term><term>Criterion</term><term>Diagnostic criteria</term><term>Dupont hospital</term><term>Early seizure variant</term><term>Exclusion criteria</term><term>Gait abnormalities</term><term>Genet</term><term>Genetic disorders</term><term>Head growth</term><term>Helen leonard</term><term>International rett syndrome foundation</term><term>Iterative process</term><term>Kennedy krieger institute</term><term>Large cohort</term><term>Main criteria</term><term>Mecp2</term><term>Mecp2 locus</term><term>Mecp2 mutation</term><term>Mecp2 mutations</term><term>Mrna isoform</term><term>Mutation</term><term>Necessary criteria</term><term>Neul</term><term>Neurological dysfunction</term><term>Neurology</term><term>Other loci</term><term>Pediatr neurol</term><term>Postnatal deceleration</term><term>Purposeful hand</term><term>Rare individuals</term><term>Recent reports</term><term>Recent work</term><term>Rett</term><term>Rett disorder</term><term>Rett syndrome</term><term>Rettsearch</term><term>Rettsearch consortium</term><term>Specific sequence variations</term><term>Specific variant forms</term><term>Speech variant</term><term>Supportive criteria</term><term>Syndrome</term><term>Telethon institute</term><term>Treatment trials</term><term>Variant</term><term>Variant forms</term><term>West perth</term><term>Western australia</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">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 to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>mecp2</json:string><json:string>rett</json:string><json:string>rett syndrome</json:string><json:string>atypical</json:string><json:string>clinical features</json:string><json:string>diagnostic criteria</json:string><json:string>mecp2 mutations</json:string><json:string>rettsearch</json:string><json:string>western australia</json:string><json:string>neurology</json:string><json:string>syndrome</json:string><json:string>main criteria</json:string><json:string>genet</json:string><json:string>neul</json:string><json:string>clinical condition</json:string><json:string>supportive criteria</json:string><json:string>mecp2 mutation</json:string><json:string>child health research</json:string><json:string>clinical criteria</json:string><json:string>exclusion criteria</json:string><json:string>clinical diagnosis</json:string><json:string>head growth</json:string><json:string>west perth</json:string><json:string>baylor college</json:string><json:string>early seizure variant</json:string><json:string>necessary criteria</json:string><json:string>telethon institute</json:string><json:string>variant</json:string><json:string>criterion</json:string><json:string>congenital</json:string><json:string>speech variant</json:string><json:string>neurological dysfunction</json:string><json:string>specific variant forms</json:string><json:string>mrna isoform</json:string><json:string>postnatal deceleration</json:string><json:string>kennedy krieger institute</json:string><json:string>congenital variant</json:string><json:string>rettsearch consortium</json:string><json:string>clinical trials</json:string><json:string>atypical forms</json:string><json:string>international rett syndrome foundation</json:string><json:string>cdkl5 mutations</json:string><json:string>rare individuals</json:string><json:string>carolyn schanen</json:string><json:string>dupont hospital</json:string><json:string>alessandra renieri</json:string><json:string>purposeful hand</json:string><json:string>gait abnormalities</json:string><json:string>clinical feature</json:string><json:string>complete loss</json:string><json:string>clear evidence</json:string><json:string>helen leonard</json:string><json:string>atypical form</json:string><json:string>recent reports</json:string><json:string>recent work</json:string><json:string>large cohort</json:string><json:string>other loci</json:string><json:string>variant forms</json:string><json:string>cardiff university</json:string><json:string>mecp2 locus</json:string><json:string>rett disorder</json:string><json:string>genetic disorders</json:string><json:string>specific sequence variations</json:string><json:string>consensus criteria</json:string><json:string>treatment trials</json:string><json:string>pediatr neurol</json:string><json:string>iterative process</json:string></teeft></keywords><author><json:item><name>Jeffrey L. Neul MD, PhD Jeffrey L. Neul MD, PhD</name><affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Houston, TX</json:string><json:string>E-mail: jneul@bcm.tmc.edu</json:string><json:string>Correspondence address: Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, BCM320, Houston TX 77030</json:string></affiliations></json:item><json:item><name>Walter E. Kaufmann MD</name><affiliations><json:string>Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD</json:string></affiliations></json:item><json:item><name>Daniel G. Glaze MD</name><affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Houston, TX</json:string></affiliations></json:item><json:item><name>John Christodoulou MB, BS, PhD, FRACP, FRCPA</name><affiliations><json:string>Western Sydney Genetics Program, Children's Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, Australia</json:string></affiliations></json:item><json:item><name>Angus J. Clarke FRCP, FRCPCH</name><affiliations><json:string>Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK</json:string></affiliations></json:item><json:item><name>Nadia Bahi‐Buisson MD, PhD</name><affiliations><json:string>Pediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, France</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, Perth, Western Australia</json:string></affiliations></json:item><json:item><name>Mark E. S. Bailey PhD</name><affiliations><json:string>Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK</json:string></affiliations></json:item><json:item><name>N. Carolyn Schanen MD, PhD</name><affiliations><json:string>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</json:string></affiliations></json:item><json:item><name>Michele Zappella MD</name><affiliations><json:string>Rett Center Versilia Hospital, Viareggio, Italy</json:string></affiliations></json:item><json:item><name>Alessandra Renieri MD, PhD</name><affiliations><json:string>Medical Genetics, University of Siena, Siena, Italy</json:string></affiliations></json:item><json:item><name>Peter Huppke MD</name><affiliations><json:string>Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Alan K. Percy MD</name><affiliations><json:string>Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL</json:string></affiliations></json:item></author><articleId><json:string>ANA22124</json:string></articleId><arkIstex>ark:/67375/WNG-6BD36C1X-F</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>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 to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</abstract><qualityIndicators><score>7.335</score><pdfWordCount>4447</pdfWordCount><pdfCharCount>28749</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>7</pdfPageCount><pdfPageSize>612 x 801 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>74</abstractWordCount><abstractCharCount>503</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Rett syndrome: Revised diagnostic criteria and nomenclature</title><pmid><json:string>21154482</json:string></pmid><corporate><json:item><name>for the RettSearch Consortium (Members listed in the Appendix)</name></json:item></corporate><genre><json:string>article</json:string></genre><host><title>Annals of Neurology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1531-8249</json:string></doi><issn><json:string>0364-5134</json:string></issn><eissn><json:string>1531-8249</json:string></eissn><publisherId><json:string>ANA</json:string></publisherId><volume>68</volume><issue>6</issue><pages><first>944</first><last>950</last><total>7</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Original Article</value></json:item></subject></host><namedEntities><unitex><date><json:string>1986</json:string><json:string>1960s</json:string><json:string>2006</json:string><json:string>2002</json:string><json:string>2007</json:string><json:string>1999</json:string><json:string>2010</json:string></date><geogName></geogName><orgName><json:string>Kennedy Krieger Institute, Baltimore</json:string><json:string>Cardiff University</json:string><json:string>University of Sydney</json:string><json:string>Research Study Recommendations A</json:string><json:string>Georg August University</json:string><json:string>Children’s Hospital Timone, Marseille, France</json:string><json:string>Nemours Biomedical Research, Alfred I</json:string><json:string>Necker Enfants Malades Hospital, Universite Paris Descartes, Paris, France</json:string><json:string>University of Alabama-Birmingham</json:string><json:string>University of Kuopio</json:string><json:string>Rett Syndrome Research Fund</json:string><json:string>Consortium Members</json:string><json:string>Children’s Hospital of Eastern Ontario, Ontario</json:string><json:string>Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia</json:string><json:string>Telethon Institute for Child Health Research, The University of Western Australia, West Perth, Western Australia</json:string><json:string>Boston Children’s Hospital, Boston, MA, USA</json:string><json:string>Kennedy Krieger Institute, Baltimore, MD, USA</json:string><json:string>Children’s Hospital of Oakland, Oakland, CA, USA</json:string><json:string>University of Glasgow</json:string><json:string>Hospital for Children, Wilmington, DE</json:string><json:string>Department of Pediatrics and Pediatric Neurology</json:string><json:string>Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD</json:string><json:string>University of Siena</json:string><json:string>Department of Pediatrics, University of Alabama</json:string><json:string>Medical University</json:string><json:string>Department of Pediatrics, Baylor College of Medicine, Houston, TX</json:string><json:string>Sheba Med Center</json:string><json:string>Hospital for Children, Wilmington, DE, USA</json:string><json:string>Department of Pediatrics, Baylor College of Medicine</json:string><json:string>American Neurological Association</json:string><json:string>Hospital Sant Joan</json:string><json:string>Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK</json:string><json:string>Gillette Children’s Hospital, St</json:string><json:string>Rett Center Versilia Hospital, Viareggio, Italy</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Alan K. Percy</json:string><json:string>Christa Einspieler</json:string><json:string>Angus J. Clarke</json:string><json:string>Daniel G. Glaze</json:string><json:string>Mary Jones</json:string><json:string>Michele Zapella</json:string><json:string>Carolyn Ellaway</json:string><json:string>Aleksandra Djukic</json:string><json:string>Steve Skinner</json:string><json:string>Walter Kaufmann</json:string><json:string>Jane Lane</json:string><json:string>Michael Johnston</json:string><json:string>Of</json:string><json:string>Helen Leonard</json:string><json:string>Jeffrey L. Neul</json:string><json:string>Carolyn Schanen</json:string><json:string>Alfred I. DuPont</json:string><json:string>Laurent Villard</json:string><json:string>E. S. 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Kaufmann</json:string><json:string>Daniel Glaze</json:string><json:string>Andreas Rett</json:string><json:string>Jeffrey Neul</json:string><json:string>Kathleen Motil</json:string><json:string>Angus Clarke</json:string><json:string>Alison Anderson</json:string><json:string>Omar Khwaja</json:string><json:string>Nadia Bahi-Buisson</json:string><json:string>Alison Kerr</json:string><json:string>Francesca Mari</json:string><json:string>John Christodoulou</json:string><json:string>Peter Huppke</json:string></persName><placeName><json:string>TX</json:string><json:string>Birmingham</json:string><json:string>Paris</json:string><json:string>Germany</json:string><json:string>Finland</json:string><json:string>Australia</json:string><json:string>UK</json:string><json:string>Austria</json:string><json:string>Kuopio</json:string><json:string>Canada</json:string><json:string>Houston</json:string><json:string>Graz</json:string><json:string>USA</json:string><json:string>Japan</json:string><json:string>Barcelona</json:string><json:string>Glasgow</json:string><json:string>Tokyo</json:string><json:string>Israel</json:string><json:string>Siena</json:string><json:string>AL</json:string><json:string>France</json:string><json:string>Marseille</json:string><json:string>Italy</json:string><json:string>Spain</json:string><json:string>Sydney</json:string></placeName><ref_url><json:string>http://www.ncbi.nlm.nih</json:string><json:string>http://www.eurorett.eu/</json:string><json:string>http://www.mecp</json:string><json:string>https://interrett.ichr.uwa.edu.au/</json:string><json:string>http://www.biobank.unisi.it/Elencorett.asp</json:string></ref_url><ref_bibl><json:string>Neul et al</json:string><json:string>Hagberg et al</json:string><json:string>Amir et al</json:string><json:string>Percy et al</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-6BD36C1X-F</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - neurosciences</json:string><json:string>2 - clinical neurology</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - clinical medicine</json:string><json:string>3 - neurology & neurosurgery</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Clinical Neurology</json:string><json:string>1 - Life Sciences</json:string><json:string>2 - Neuroscience</json:string><json:string>3 - Neurology</json:string></scopus></categories><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/ana.22124</json:string></doi><id>D5C8C3CB88527299EA74C14565BDEA531C5B92EC</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/D5C8C3CB88527299EA74C14565BDEA531C5B92EC/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/D5C8C3CB88527299EA74C14565BDEA531C5B92EC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/D5C8C3CB88527299EA74C14565BDEA531C5B92EC/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Rett syndrome: Revised diagnostic criteria and nomenclature</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2010 American Neurological Association</licence></availability><date type="published" when="2010-12"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Rett syndrome: Revised diagnostic criteria and nomenclature</title><title level="a" type="short" xml:lang="en">Revised RTT Diagnostic Criteria</title><author xml:id="author-0000" role="corresp"><persName><surname>Jeffrey L. Neul</surname><roleName type="degree">MD, PhD</roleName></persName><email>jneul@bcm.tmc.edu</email><affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX<address><country key="US"></country></address></affiliation><affiliation>Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, BCM320, Houston TX 77030</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Walter E.</forename><surname>Kaufmann</surname><roleName type="degree">MD</roleName></persName><affiliation>Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Daniel G.</forename><surname>Glaze</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">John</forename><surname>Christodoulou</surname><roleName type="degree">MB, BS, PhD, FRACP, FRCPA</roleName></persName><affiliation>Western Sydney Genetics Program, Children's Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Angus J.</forename><surname>Clarke</surname><roleName type="degree">FRCP, FRCPCH</roleName></persName><affiliation>Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Nadia</forename><surname>Bahi‐Buisson</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Pediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Helen</forename><surname>Leonard</surname><roleName type="degree">MBChB</roleName></persName><affiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Mark E. S.</forename><surname>Bailey</surname><roleName type="degree">PhD</roleName></persName><affiliation>Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">N. Carolyn</forename><surname>Schanen</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Michele</forename><surname>Zappella</surname><roleName type="degree">MD</roleName></persName><affiliation>Rett Center Versilia Hospital, Viareggio, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Alessandra</forename><surname>Renieri</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Medical Genetics, University of Siena, Siena, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">Peter</forename><surname>Huppke</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">Alan K.</forename><surname>Percy</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL<address><country key="US"></country></address></affiliation></author><author xml:id="author-0013"><author><orgName>for the RettSearch Consortium (Members listed in the Appendix)</orgName></author></author><idno type="istex">D5C8C3CB88527299EA74C14565BDEA531C5B92EC</idno><idno type="ark">ark:/67375/WNG-6BD36C1X-F</idno><idno type="DOI">10.1002/ana.22124</idno><idno type="unit">ANA22124</idno><idno type="toTypesetVersion">file:ANA.ANA22124.pdf</idno></analytic><monogr><title level="j" type="main">Annals of Neurology</title><title level="j" type="alt">ANNALS OF NEUROLOGY</title><idno type="pISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><idno type="book-DOI">10.1002/(ISSN)1531-8249</idno><idno type="book-part-DOI">10.1002/ana.v68.6</idno><idno type="product">ANA</idno><imprint><biblScope unit="vol">68</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="944">944</biblScope><biblScope unit="page" to="950">950</biblScope><biblScope unit="page-count">7</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-12"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head>
Objective
<p>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 <hi rend="italic">Methyl‐CpG‐binding protein 2</hi> (<hi rend="italic">MECP2</hi>). 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 to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</p>
Method
<p>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>
Results
<p>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>
Interpretation
<p>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. Ann Neurol 2010</p></abstract><textClass><keywords rend="articleCategory"><term>Original Article</term></keywords><keywords rend="tocHeading1"><term>Original Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/D5C8C3CB88527299EA74C14565BDEA531C5B92EC/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8249</doi><issn type="print">0364-5134</issn><issn type="electronic">1531-8249</issn><idGroup><id type="product" value="ANA"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="ANNALS OF NEUROLOGY">Annals of Neurology</title><title type="short">Ann Neurol.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi origin="wiley" registered="yes">10.1002/ana.v68.6</doi><numberingGroup><numbering type="journalVolume" number="68">68</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2010-12">December 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="270" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ana.22124</doi><idGroup><id type="unit" value="ANA22124"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Original Article</title><title type="tocHeading1">Original Articles</title></titleGroup><copyright ownership="publisher">Copyright © 2010 American Neurological Association</copyright><eventGroup><event type="manuscriptReceived" date="2010-04-13"></event><event type="manuscriptRevised" date="2010-05-24"></event><event type="manuscriptAccepted" date="2010-06-11"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.4 mode:FullText" date="2011-01-28"></event><event type="publishedOnlineEarlyUnpaginated" date="2010-12-08"></event><event type="publishedOnlineFinalForm" date="2010-12-30"></event><event type="firstOnline" date="2010-12-08"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-03"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">944</numbering><numbering type="pageLast">950</numbering></numberingGroup><correspondenceTo>Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, BCM320, Houston TX 77030</correspondenceTo><objectNameGroup><objectName elementName="appendix">Appendix</objectName></objectNameGroup><linkGroup><link type="toTypesetVersion" href="file:ANA.ANA22124.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="25"></count><count type="wordTotal" number="4664"></count></countGroup><titleGroup><title type="main" xml:lang="en">Rett syndrome: Revised diagnostic criteria and nomenclature</title><title type="short" xml:lang="en">Revised RTT Diagnostic Criteria</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><familyName>Jeffrey L. Neul</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>jneul@bcm.tmc.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Walter E.</givenNames><familyName>Kaufmann</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Daniel G.</givenNames><familyName>Glaze</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>John</givenNames><familyName>Christodoulou</familyName><degrees>MB, BS, PhD, FRACP, FRCPA</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Angus J.</givenNames><familyName>Clarke</familyName><degrees>FRCP, FRCPCH</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Nadia</givenNames><familyName>Bahi‐Buisson</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Helen</givenNames><familyName>Leonard</familyName><degrees>MBChB</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Mark E. S.</givenNames><familyName>Bailey</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af8"><personName><givenNames>N. Carolyn</givenNames><familyName>Schanen</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af9"><personName><givenNames>Michele</givenNames><familyName>Zappella</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af10"><personName><givenNames>Alessandra</givenNames><familyName>Renieri</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af11"><personName><givenNames>Peter</givenNames><familyName>Huppke</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af12"><personName><givenNames>Alan K.</givenNames><familyName>Percy</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au14" creatorRole="author"><groupName>for the RettSearch Consortium (Members listed in the Appendix)</groupName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="AU" type="organization"><unparsedAffiliation>Western Sydney Genetics Program, Children's Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Pediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="AU" type="organization"><unparsedAffiliation>Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="GB" type="organization"><unparsedAffiliation>Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="DE" type="organization"><unparsedAffiliation>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="IT" type="organization"><unparsedAffiliation>Rett Center Versilia Hospital, Viareggio, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af10" countryCode="IT" type="organization"><unparsedAffiliation>Medical Genetics, University of Siena, Siena, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af11" countryCode="DE" type="organization"><unparsedAffiliation>Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af12" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Objective</title><p>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 <i>Methyl‐CpG‐binding protein 2</i> (<i>MECP2</i>). 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 to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</p></section><section xml:id="abs1-2"><title type="main">Method</title><p>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></section><section xml:id="abs1-3"><title type="main">Results</title><p>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></section><section xml:id="abs1-4"><title type="main">Interpretation</title><p>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. Ann Neurol 2010</p></section></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Rett syndrome: Revised diagnostic criteria and nomenclature</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Revised RTT Diagnostic Criteria</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Rett syndrome: Revised diagnostic criteria and nomenclature</title></titleInfo><name type="personal"><namePart>Jeffrey L. Neul MD, PhD</namePart><namePart type="family">Jeffrey L. Neul</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX</affiliation><affiliation>E-mail: jneul@bcm.tmc.edu</affiliation><affiliation>Correspondence address: Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, BCM320, Houston TX 77030</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 Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daniel G.</namePart><namePart type="family">Glaze</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Christodoulou</namePart><namePart type="termsOfAddress">MB, BS, PhD, FRACP, FRCPA</namePart><affiliation>Western Sydney Genetics Program, Children's Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Angus J.</namePart><namePart type="family">Clarke</namePart><namePart type="termsOfAddress">FRCP, FRCPCH</namePart><affiliation>Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nadia</namePart><namePart type="family">Bahi‐Buisson</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Pediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, France</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, Perth, Western Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mark E. S.</namePart><namePart type="family">Bailey</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N. Carolyn</namePart><namePart type="family">Schanen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michele</namePart><namePart type="family">Zappella</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Rett Center Versilia Hospital, Viareggio, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alessandra</namePart><namePart type="family">Renieri</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Medical Genetics, University of Siena, Siena, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Huppke</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alan K.</namePart><namePart type="family">Percy</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="corporate"><namePart>for the RettSearch Consortium (Members listed in the Appendix)</namePart><description>Department of Pediatrics, Baylor College of Medicine, Houston, TXCenter for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MDWestern Sydney Genetics Program, Children's Hospital at Westmead, Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, AustraliaInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UKPediatric Neurology, Necker Enfants Malades Hospital, Université Paris Descartes, Paris, FranceTelethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western AustraliaMolecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, UKNemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DERett Center Versilia Hospital, Viareggio, ItalyMedical Genetics, University of Siena, Siena, ItalyDepartment of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, GermanyDepartment of Pediatrics, University of Alabama at Birmingham, Birmingham, AL</description></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-12</dateIssued><dateCaptured encoding="w3cdtf">2010-04-13</dateCaptured><dateValid encoding="w3cdtf">2010-06-11</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><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">25</extent><extent unit="words">4664</extent></physicalDescription><abstract>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 to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</abstract><abstract>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.</abstract><abstract>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.</abstract><abstract>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. Ann Neurol 2010</abstract><relatedItem type="host"><titleInfo><title>Annals of Neurology</title></titleInfo><titleInfo type="abbreviated"><title>Ann Neurol.</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Original Article</topic></subject><identifier type="ISSN">0364-5134</identifier><identifier type="eISSN">1531-8249</identifier><identifier type="DOI">10.1002/(ISSN)1531-8249</identifier><identifier type="PublisherID">ANA</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>68</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>944</start><end>950</end><total>7</total></extent></part></relatedItem><identifier type="istex">D5C8C3CB88527299EA74C14565BDEA531C5B92EC</identifier><identifier type="ark">ark:/67375/WNG-6BD36C1X-F</identifier><identifier type="DOI">10.1002/ana.22124</identifier><identifier type="ArticleID">ANA22124</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 American Neurological Association</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/D5C8C3CB88527299EA74C14565BDEA531C5B92EC/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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