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Détail de l'auteur
Auteur James R. LUPSKI |
Documents disponibles écrits par cet auteur (2)
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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 The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism / Sarika U. PETERS in Autism Research, 6-1 (February 2013)
[article]
Titre : The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism Type de document : Texte imprimé et/ou numérique Auteurs : Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; Melissa B. RAMOCKI, Auteur Année de publication : 2013 Article en page(s) : p.42-50 Langues : Anglais (eng) Mots-clés : autism MECP2 genetics phenotype social affect overexpression Index. décimale : PER Périodiques Résumé : Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. En ligne : http://dx.doi.org/10.1002/aur.1262 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Autism Research > 6-1 (February 2013) . - p.42-50[article] The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism [Texte imprimé et/ou numérique] / Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; Melissa B. RAMOCKI, Auteur . - 2013 . - p.42-50.
Langues : Anglais (eng)
in Autism Research > 6-1 (February 2013) . - p.42-50
Mots-clés : autism MECP2 genetics phenotype social affect overexpression Index. décimale : PER Périodiques Résumé : Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. En ligne : http://dx.doi.org/10.1002/aur.1262 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192