Brief Report: MECP2 Mutations in People Without Rett Syndrome / Bernhard SUTER in Journal of Autism and Developmental Disorders, 44-3 (March 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711 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 [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

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders / Corneliu BOLBOCEAN in Journal of Autism and Developmental Disorders, 53-3 (March 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1000-1016 Titre : COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur Article en page(s) : p.1000-1016 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver?s mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might protect children from COVID-19 induced restrictions. En ligne : https://doi.org/10.1007/s10803-022-05619-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 [article] COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur . - p.1000-1016. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1000-1016 Index. décimale : PER Périodiques Résumé : Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver?s mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might protect children from COVID-19 induced restrictions. En ligne : https://doi.org/10.1007/s10803-022-05619-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500

Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships / Corneliu BOLBOCEAN in Autism Research, 15-12 (December 2022)  

Public ISBD [article]  inAutism Research > 15-12 (December 2022) . - p.2381-2398 Titre : Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships Type de document : Texte imprimé et/ou numérique Auteurs : Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; Jimmy Lloyd HOLDER, Auteur Article en page(s) : p.2381-2398 Langues : Anglais (eng) Mots-clés : Humans  Parenting  Quality of Life  Intellectual Disability/epidemiology  covid-19  Autistic Disorder/epidemiology  Pandemics  Autism Spectrum Disorder  Parents  Parent-Child Relations  Covid-19  Phelan-McDermid syndrome  Rett syndrome  Syngap1-id  autism  families of autistic children  intellectual disabilities  resilience Index. décimale : PER Périodiques Résumé : Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families' resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research. En ligne : http://dx.doi.org/10.1002/aur.2825 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships [Texte imprimé et/ou numérique] / Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; Jimmy Lloyd HOLDER, Auteur . - p.2381-2398. Langues : Anglais (eng) in Autism Research > 15-12 (December 2022) . - p.2381-2398 Mots-clés : Humans  Parenting  Quality of Life  Intellectual Disability/epidemiology  covid-19  Autistic Disorder/epidemiology  Pandemics  Autism Spectrum Disorder  Parents  Parent-Child Relations  Covid-19  Phelan-McDermid syndrome  Rett syndrome  Syngap1-id  autism  families of autistic children  intellectual disabilities  resilience Index. décimale : PER Périodiques Résumé : Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families' resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research. En ligne : http://dx.doi.org/10.1002/aur.2825 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders / Bernhard SUTER in Autism Research, 17-4 (April 2024)  

Public ISBD [article]  inAutism Research > 17-4 (April 2024) . - p.775-784 Titre : Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders Type de document : Texte imprimé et/ou numérique Auteurs : Bernhard SUTER, Auteur ; Davut PEHLIVAN, Auteur ; Muharrem AK, Auteur ; Holly K. HARRIS, Auteur ; Ariel M. LYONS-WARREN, Auteur Article en page(s) : p.775-784 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS. Towards this goal, caregivers of 50 female individuals with RTT and 122 male individuals with MDS, between 1 and 46?years of age, completed a standardized measure of sensory processing, the Sensory Experiences Questionnaire. Patterns detected in both disorders were compared against each other and against normative values. We found sensory processing abnormalities for both hyper- and hypo-sensitivity in both groups. Interestingly, abnormalities in MDS were more pronounced compared with in RTT, particularly with items concerning hypersensitivity and sensory seeking, but not hyposensitivity. Individuals with MDS also exhibited greater sensory symptoms compared with RTT in the areas of tactile and vestibular sensory processing and for both social and nonsocial stimuli. This study provides a first description of sensory symptoms in individuals with RTT and individuals with MDS. Similar to other neurodevelopmental disorders, a variety of sensory processing abnormalities was found. These findings reveal a first insight into sensory processing abnormalities caused by a dosage sensitive gene and may ultimately help guide therapeutic approaches for these disorders. En ligne : https://doi.org/10.1002/aur.3112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=526 [article] Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders [Texte imprimé et/ou numérique] / Bernhard SUTER, Auteur ; Davut PEHLIVAN, Auteur ; Muharrem AK, Auteur ; Holly K. HARRIS, Auteur ; Ariel M. LYONS-WARREN, Auteur . - p.775-784. Langues : Anglais (eng) in Autism Research > 17-4 (April 2024) . - p.775-784 Index. décimale : PER Périodiques Résumé : Abstract The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS. Towards this goal, caregivers of 50 female individuals with RTT and 122 male individuals with MDS, between 1 and 46?years of age, completed a standardized measure of sensory processing, the Sensory Experiences Questionnaire. Patterns detected in both disorders were compared against each other and against normative values. We found sensory processing abnormalities for both hyper- and hypo-sensitivity in both groups. Interestingly, abnormalities in MDS were more pronounced compared with in RTT, particularly with items concerning hypersensitivity and sensory seeking, but not hyposensitivity. Individuals with MDS also exhibited greater sensory symptoms compared with RTT in the areas of tactile and vestibular sensory processing and for both social and nonsocial stimuli. This study provides a first description of sensory symptoms in individuals with RTT and individuals with MDS. Similar to other neurodevelopmental disorders, a variety of sensory processing abnormalities was found. These findings reveal a first insight into sensory processing abnormalities caused by a dosage sensitive gene and may ultimately help guide therapeutic approaches for these disorders. En ligne : https://doi.org/10.1002/aur.3112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=526

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