AustralieFrV1, Ncbi, Checkpoint, bibRecord, 000943

Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

Identifieur interne : 000943 ( Ncbi/Checkpoint ); précédent : 000942; suivant : 000944

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

Affiliations:

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Le document en format XML

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<author><name sortKey="Schanen, N Carolyn" sort="Schanen, N Carolyn" uniqKey="Schanen N" first="N. Carolyn" last="Schanen">N. Carolyn Schanen</name>
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<author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea> Medical Genetics, University of Siena, Siena</wicri:regionArea>
<wicri:noRegion>Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Huppke, Peter" sort="Huppke, Peter" uniqKey="Huppke P" first="Peter" last="Huppke">Peter Huppke</name>
<affiliation wicri:level="3"><nlm:aff id="A11"> Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Göttingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Percy, Alan K" sort="Percy, Alan K" uniqKey="Percy A" first="Alan K." last="Percy">Alan K. Percy</name>
<affiliation wicri:level="2"><nlm:aff id="A12"> Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Alabama</region>
</placeName>
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<series><title level="j">Annals of neurology</title>
<idno type="ISSN">0364-5134</idno>
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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>
</TEI>
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<tree><country name="États-Unis"><region name="Texas"><name sortKey="Neul, Jeffrey L" sort="Neul, Jeffrey L" uniqKey="Neul J" first="Jeffrey L." last="Neul">Jeffrey L. Neul</name>
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<name sortKey="Glaze, Daniel G" sort="Glaze, Daniel G" uniqKey="Glaze D" first="Daniel G." last="Glaze">Daniel G. Glaze</name>
<name sortKey="Kaufmann, Walter E" sort="Kaufmann, Walter E" uniqKey="Kaufmann W" first="Walter E." last="Kaufmann">Walter E. Kaufmann</name>
<name sortKey="Percy, Alan K" sort="Percy, Alan K" uniqKey="Percy A" first="Alan K." last="Percy">Alan K. Percy</name>
<name sortKey="Schanen, N Carolyn" sort="Schanen, N Carolyn" uniqKey="Schanen N" first="N. Carolyn" last="Schanen">N. Carolyn Schanen</name>
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<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name>
</region>
<name sortKey="Leonard, Helen" sort="Leonard, Helen" uniqKey="Leonard H" first="Helen" last="Leonard">Helen Leonard</name>
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<country name="Royaume-Uni"><noRegion><name sortKey="Clarke, Angus J" sort="Clarke, Angus J" uniqKey="Clarke A" first="Angus J." last="Clarke">Angus J. Clarke</name>
</noRegion>
<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>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
</region>
</country>
<country name="Italie"><noRegion><name sortKey="Zappella, Michele" sort="Zappella, Michele" uniqKey="Zappella M" first="Michele" last="Zappella">Michele Zappella</name>
</noRegion>
<name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name>
</country>
<country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Huppke, Peter" sort="Huppke, Peter" uniqKey="Huppke P" first="Peter" last="Huppke">Peter Huppke</name>
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   |area=    AustralieFrV1
   |flux=    Ncbi
   |étape=   Checkpoint
   |type=    RBID
   |clé=     PMC:3058521
   |texte=   Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
}}

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HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i   -Sk "pubmed:21154482" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

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