Art

J-GLOBAL ID：200902290129054948   Reference number：09A0156329

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Rett症候群のZappella変異型(発話保存変異型)の診断基準

Author (12)： RENIERI A. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  MARI F. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  MENCARELLI M.a. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  SCALA E. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  ARIANI F. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  LONGO I. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  MELONI I. (Medical Genetics, Molecular Biology Dep., Univ. of Siena, Viale Bracci, 2, Siena 53100, ITA) ,  CEVENINI G. (Dep. of Surgery and Bioengineering, Univ. of Siena, Siena, ITA) ,  PINI G. (Child Neuropsychiatry, Versilia Hospital, Viareggio, ITA) ,  HAYEK G. (Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, ITA) ,  ZAPPELLA M. (Child Neuropsychiatry, Versilia Hospital, Viareggio, ITA) ,  ZAPPELLA M. (Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, ITA)
Material： Brain & Development  (Brain & Dev)
Volume： 31  Issue： 3  Page： 208-216  Publication year： Mar. 2009 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *Rett syndrome ,...
Semi thesaurus term： MECP2遺伝子 ,...

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JST classification (2)： Neurologic diagnosis  (GN02000H) ,  Psychiatric diagnosis  (GR02000T)

Reference (29)：

• Trevathan E, Moser HW. Diagnostic criteria for Rett syndrome. Ann Neurol 1988;23:425-8.
• Zappella M. The Rett girls with preserved speech. Brain Dev 1992;14:98-101.
• Zappella M. Rett syndrome-like hand washing, developmental arrest and autistic symptoms in two Italian girls. Eur Child Adolesc Psychiatry 1994;3:52-6.
• Skjeldal O, von Tetzchner S, Jacobsen K, Smith L, Heiberg A. Rett syndrome-distribution of phenotypes with special attention to the preserved speech variant. Neuropediatrics 1995;26:87.
• Zappella M. The preserved speech variant of the Rett complex: a report of 8 cases. Eur Child Adolesc Psychiatry 1997;6:23-5.

Terms in the title (5)： Rett症候群 ,  変異型 ,  発話 ,  保存 ,  診断基準