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Détail de l'auteur
Auteur Jeffrey L. NEUL |
Documents disponibles écrits par cet auteur (4)
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Assessment of Caregiver Inventory for Rett Syndrome / Jane B. LANE in Journal of Autism and Developmental Disorders, 47-4 (April 2017)
[article]
Titre : Assessment of Caregiver Inventory for Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jane B. LANE, Auteur ; Amber R. SALTER, Auteur ; Nancy E. JONES, Auteur ; Gary CUTTER, Auteur ; Joseph HORRIGAN, Auteur ; Steve A. SKINNER, Auteur ; Walter E. KAUFMANN, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur Article en page(s) : p.1102-1112 Langues : Anglais (eng) Mots-clés : Rett syndrome Caregiver Inventory MECP2 Factor analysis Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder. En ligne : http://dx.doi.org/10.1007/s10803-017-3034-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304
in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112[article] Assessment of Caregiver Inventory for Rett Syndrome [Texte imprimé et/ou numérique] / Jane B. LANE, Auteur ; Amber R. SALTER, Auteur ; Nancy E. JONES, Auteur ; Gary CUTTER, Auteur ; Joseph HORRIGAN, Auteur ; Steve A. SKINNER, Auteur ; Walter E. KAUFMANN, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur . - p.1102-1112.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112
Mots-clés : Rett syndrome Caregiver Inventory MECP2 Factor analysis Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder. En ligne : http://dx.doi.org/10.1007/s10803-017-3034-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 Brief Report: MECP2 Mutations in People Without Rett Syndrome / Bernhard SUTER in Journal of Autism and Developmental Disorders, 44-3 (March 2014)
[article]
Titre : Brief Report: MECP2 Mutations in People Without Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Bernhard SUTER, Auteur ; Diane TREADWELL-DEERING, Auteur ; Huda Y. ZOGHBI, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur Article en page(s) : p.703-711 Langues : Anglais (eng) Mots-clés : Rett syndrome Autism Neurodevelopmental disorders MECP2 Epigenetics Neurogenetics Index. décimale : PER Périodiques Résumé : Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. En ligne : http://dx.doi.org/10.1007/s10803-013-1902-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=225
in Journal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711[article] Brief Report: MECP2 Mutations in People Without Rett Syndrome [Texte imprimé et/ou numérique] / Bernhard SUTER, Auteur ; Diane TREADWELL-DEERING, Auteur ; Huda Y. ZOGHBI, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur . - p.703-711.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711
Mots-clés : Rett syndrome Autism Neurodevelopmental disorders MECP2 Epigenetics Neurogenetics Index. décimale : PER Périodiques Résumé : Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. En ligne : http://dx.doi.org/10.1007/s10803-013-1902-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=225 Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms / Audrey THURM in Autism Research, 11-2 (February 2018)
[article]
Titre : Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms Type de document : Texte imprimé et/ou numérique Auteurs : Audrey THURM, Auteur ; Elizabeth M. POWELL, Auteur ; Jeffrey L. NEUL, Auteur ; Ann WAGNER, Auteur ; Lonnie ZWAIGENBAUM, Auteur Année de publication : 2018 Article en page(s) : p.212-222 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Patterns of onset in Autism Spectrum Disorder, including a pattern that includes loss of previously acquired skills, have been identified since the first reports of the disorder. However, attempts to study such “regression” have been limited to clinical studies, that until recently mostly involved retrospective reports. The current report reflects discussion that occurred at an NIMH convened meeting in 2016 with the purpose of bridging clinical autism research with basic and translational work in this area. This summary describes the state of the field with respect to clinical studies, describing gaps in knowledge based on limited methods and prospective data collected. Biological mechanisms that have been shown to account for regression early in development in specific conditions are discussed, as well as potential mechanisms that have not yet been explored. Suggestions include use of model systems during the developmental period and cutting?edge methods, including non?invasive imaging that may afford opportunities for a better understanding of the neurobiological pathways that result in loss of previously?attained skills. Autism Res 2018, 11: 212–222. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Loss of previously acquired skills, or regression, has been reported in Autism Spectrum Disorder since Kanner's reports in the 1950's. The current report reflects discussion from an NIMH convened meeting in 2016 with the purpose of bridging clinical autism research with basic and translational work in this area. This summary describes the state of the field regarding clinical studies and suggests use of model systems during the developmental period and cutting?edge methods, for a better understanding of the neurobiological pathways that result in loss of previously?attained skills. En ligne : https://doi.org/10.1002/aur.1903 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334
in Autism Research > 11-2 (February 2018) . - p.212-222[article] Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms [Texte imprimé et/ou numérique] / Audrey THURM, Auteur ; Elizabeth M. POWELL, Auteur ; Jeffrey L. NEUL, Auteur ; Ann WAGNER, Auteur ; Lonnie ZWAIGENBAUM, Auteur . - 2018 . - p.212-222.
Langues : Anglais (eng)
in Autism Research > 11-2 (February 2018) . - p.212-222
Index. décimale : PER Périodiques Résumé : Patterns of onset in Autism Spectrum Disorder, including a pattern that includes loss of previously acquired skills, have been identified since the first reports of the disorder. However, attempts to study such “regression” have been limited to clinical studies, that until recently mostly involved retrospective reports. The current report reflects discussion that occurred at an NIMH convened meeting in 2016 with the purpose of bridging clinical autism research with basic and translational work in this area. This summary describes the state of the field with respect to clinical studies, describing gaps in knowledge based on limited methods and prospective data collected. Biological mechanisms that have been shown to account for regression early in development in specific conditions are discussed, as well as potential mechanisms that have not yet been explored. Suggestions include use of model systems during the developmental period and cutting?edge methods, including non?invasive imaging that may afford opportunities for a better understanding of the neurobiological pathways that result in loss of previously?attained skills. Autism Res 2018, 11: 212–222. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Loss of previously acquired skills, or regression, has been reported in Autism Spectrum Disorder since Kanner's reports in the 1950's. The current report reflects discussion from an NIMH convened meeting in 2016 with the purpose of bridging clinical autism research with basic and translational work in this area. This summary describes the state of the field regarding clinical studies and suggests use of model systems during the developmental period and cutting?edge methods, for a better understanding of the neurobiological pathways that result in loss of previously?attained skills. En ligne : https://doi.org/10.1002/aur.1903 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334 Rett Syndrome and MECP2-Related Disorders / Jeffrey L. NEUL
Titre : Rett Syndrome and MECP2-Related Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Jeffrey L. NEUL, Auteur Année de publication : 2011 Importance : p.776-800 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 Rett Syndrome and MECP2-Related Disorders [Texte imprimé et/ou numérique] / Jeffrey L. NEUL, Auteur . - 2011 . - p.776-800.
Langues : Anglais (eng)
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 Exemplaires
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