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
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<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>
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<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>
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<familyName>Zappella</familyName>
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<familyName>Renieri</familyName>
<degrees>MD, PhD</degrees>
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<familyName>Huppke</familyName>
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<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>
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<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>
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<name type="personal"><namePart>Jeffrey L. Neul MD, PhD</namePart>
<namePart type="family">Jeffrey L. Neul</namePart>
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<affiliation>Department of Pediatrics, Baylor College of Medicine, Houston, TX</affiliation>
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<affiliation>Correspondence address: Section of Neurology, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, BCM320, Houston TX 77030</affiliation>
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<affiliation>Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD</affiliation>
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<name type="personal"><namePart type="given">Daniel G.</namePart>
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<name type="personal"><namePart type="given">Mark E. S.</namePart>
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<name type="personal"><namePart type="given">N. Carolyn</namePart>
<namePart type="family">Schanen</namePart>
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<affiliation>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</affiliation>
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<name type="personal"><namePart type="given">Michele</namePart>
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<name type="personal"><namePart type="given">Alessandra</namePart>
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<name type="personal"><namePart type="given">Peter</namePart>
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<name type="personal"><namePart type="given">Alan K.</namePart>
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<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>
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