Literature DB >> 21104896

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Alan K Percy1, Jeffrey L Neul, Daniel G Glaze, Kathleen J Motil, Steven A Skinner, Omar Khwaja, Hye-Seung Lee, Jane B Lane, Judy O Barrish, Fran Annese, Lauren McNair, Joy Graham, Katherine Barnes.   

Abstract

Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria.

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Year:  2010        PMID： 21104896      PMCID： PMC3021984          DOI： 10.1002/ana.22154

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  15 in total

1.  An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001.

Authors:  Bengt Hagberg; Folker Hanefeld; Alan Percy; Ola Skjeldal
Journal:  Eur J Paediatr Neurol       Date:  2002       Impact factor: 3.140

2.  Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

Authors:  M Meins; J Lehmann; F Gerresheim; J Herchenbach; M Hagedorn; K Hameister; J T Epplen
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

3.  Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group.

Authors: 
Journal:  Ann Neurol       Date:  1988-04       Impact factor: 10.422

4.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Authors:  Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Journal:  Am J Hum Genet       Date:  2005-07-29       Impact factor: 11.025

5.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

6.  [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

Authors:  A Rett
Journal:  Wien Med Wochenschr       Date:  1966-09-10

7.  Rett syndrome: criteria for inclusion and exclusion.

Authors:  B Hagberg; F Goutières; F Hanefeld; A Rett; J Wilson
Journal:  Brain Dev       Date:  1985       Impact factor: 1.961

8.  Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

Authors:  Franco Laccone; Ivonne Jünemann; Sharon Whatley; Rhian Morgan; Rachel Butler; Peter Huppke; David Ravine
Journal:  Hum Mutat       Date:  2004-03       Impact factor: 4.878

9.  Rett variants: a suggested model for inclusion criteria.

Authors:  B A Hagberg; O H Skjeldal
Journal:  Pediatr Neurol       Date:  1994-07       Impact factor: 3.372

10.  A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Authors:  Gevork N Mnatzakanian; Hannes Lohi; Iulia Munteanu; Simon E Alfred; Takahiro Yamada; Patrick J M MacLeod; Julie R Jones; Stephen W Scherer; N Carolyn Schanen; Michael J Friez; John B Vincent; Berge A Minassian
Journal:  Nat Genet       Date:  2004-03-21       Impact factor: 38.330
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  51 in total

1.  Brief report: MECP2 mutations in people without Rett syndrome.

Authors:  Bernhard Suter; Diane Treadwell-Deering; Huda Y Zoghbi; Daniel G Glaze; Jeffrey L Neul
Journal:  J Autism Dev Disord       Date:  2014-03

2.  The American history of Rett syndrome.

Authors:  Alan Percy
Journal:  Pediatr Neurol       Date:  2013-11-05       Impact factor: 3.372

3.  The course of awake breathing disturbances across the lifespan in Rett syndrome.

Authors:  Daniel C Tarquinio; Wei Hou; Jeffrey L Neul; Gamze Kilic Berkmen; Jana Drummond; Elizabeth Aronoff; Jennifer Harris; Jane B Lane; Walter E Kaufmann; Kathleen J Motil; Daniel G Glaze; Steven A Skinner; Alan K Percy
Journal:  Brain Dev       Date:  2018-04-12       Impact factor: 1.961

4.  Clinical severity and quality of life in children and adolescents with Rett syndrome.

Authors:  J B Lane; H-S Lee; L W Smith; P Cheng; A K Percy; D G Glaze; J L Neul; K J Motil; J O Barrish; S A Skinner; F Annese; L McNair; J Graham; O Khwaja; K Barnes; J P Krischer
Journal:  Neurology       Date:  2011-10-19       Impact factor: 9.910

5.  Spoken word processing in Rett syndrome: Evidence from event-related potentials.

Authors:  Alexandra P Key; Dorita Jones; Sarika Peters
Journal:  Int J Dev Neurosci       Date:  2019-01-07       Impact factor: 2.457

6.  Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

Authors:  Lisa V Kalman; Jack C Tarleton; Alan K Percy; Swaroop Aradhya; Sherri Bale; Shannon D Barker; Pinar Bayrak-Toydemir; Christina Bridges; Arlene M Buller-Burckle; Soma Das; Ramaswamy K Iyer; Timothy D Vo; Val V Zvereff; Lorraine H Toji
Journal:  J Mol Diagn       Date:  2014-02-07       Impact factor: 5.568

Review 7.  Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.

Authors:  Christopher A Chapleau; Jane Lane; Lucas Pozzo-Miller; Alan K Percy
Journal:  Curr Clin Pharmacol       Date:  2013-11

8.  Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.

Authors:  Jeffrey L Neul; Daniel G Glaze; Alan K Percy; Tim Feyma; Arthur Beisang; Thuy Dinh; Bernhard Suter; Evdokia Anagnostou; Mike Snape; Joseph Horrigan; Nancy E Jones
Journal:  J Child Neurol       Date:  2015-04-20       Impact factor: 1.987

9.  MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Authors:  Daniela Zahorakova; Petra Lelkova; Vladimir Gregor; Martin Magner; Jiri Zeman; Pavel Martasek
Journal:  J Hum Genet       Date:  2016-03-17       Impact factor: 3.172

10.  Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.

Authors:  John T Killian; Jane B Lane; Hye-Seung Lee; James H Pelham; Steve A Skinner; Walter E Kaufmann; Daniel G Glaze; Jeffrey L Neul; Alan K Percy
Journal:  Pediatr Neurol       Date:  2016-01-11       Impact factor: 3.372
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