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Détail de l'auteur
Auteur M. B. RAMOCKI |
Documents disponibles écrits par cet auteur (1)
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Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome / S. U. PETERS in Journal of Autism and Developmental Disorders, 43-10 (October 2013)
[article]
Titre : Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur Article en page(s) : p.2484-2490 Langues : Anglais (eng) Mots-clés : Regression MECP2 Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215
in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490[article] Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome [Texte imprimé et/ou numérique] / S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur . - p.2484-2490.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490
Mots-clés : Regression MECP2 Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215