Rett syndrome: Revised diagnostic criteria and nomenclature
Identifieur interne : 000B06 ( Istex/Checkpoint ); précédent : 000B05; suivant : 000B07Rett syndrome: Revised diagnostic criteria and nomenclature
Auteurs : Guillaume 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 ] ; 2010-12.
Descripteurs français
- Wicri :
- topic : Neurologie.
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
Affiliations:
- Allemagne, Australie, France, Italie, Royaume-Uni, États-Unis
- Alabama, Australie-Occidentale, Basse-Saxe, Delaware, Maryland, Nouvelle-Galles du Sud, Texas, Écosse, Île-de-France
- Glasgow, Göttingen, Paris, Sydney
- Université Paris-Descartes, Université de Glasgow, Université de Sydney
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<term>Atypical form</term>
<term>Atypical forms</term>
<term>Baylor college</term>
<term>Cardiff university</term>
<term>Carolyn schanen</term>
<term>Cdkl5 mutations</term>
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<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>
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<term>Congenital variant</term>
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<term>Early seizure variant</term>
<term>Exclusion criteria</term>
<term>Gait abnormalities</term>
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<term>Genetic disorders</term>
<term>Head growth</term>
<term>Helen leonard</term>
<term>International rett syndrome foundation</term>
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<term>Kennedy krieger institute</term>
<term>Large cohort</term>
<term>Main criteria</term>
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<term>Specific variant forms</term>
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<term>Supportive criteria</term>
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<term>Clinical criteria</term>
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<term>Consensus criteria</term>
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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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