Delineating the autistic phenotype in children with neurofibromatosis type 1 / Anita K. CHISHOLM in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 3p. Titre : Delineating the autistic phenotype in children with neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Anita K. CHISHOLM, Auteur ; Kristina M. HAEBICH, Auteur ; Natalie A. PRIDE, Auteur ; Karin S. WALSH, Auteur ; Francesca LAMI, Auteur ; Alexandra URE, Auteur ; Tiba MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; Melissa ROUEL, Auteur ; Yael GRANADER, Auteur ; Alice MAIER, Auteur ; Belinda BARTON, Auteur ; Hayley DARKE, Auteur ; Gabriel DABSCHECK, Auteur ; Vicki ANDERSON, Auteur ; Katrina WILLIAMS, Auteur ; Kathryn N. NORTH, Auteur ; Jonathan M. PAYNE, Auteur Article en page(s) : 3p. Langues : Anglais (eng) Mots-clés : Autism  Autism Diagnostic Interview-Revised (ADI-R)  Autism Diagnostic Observation Schedule-Second Edition (ADOS-2)  Autistic behaviours  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management. En ligne : http://dx.doi.org/10.1186/s13229-021-00481-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Delineating the autistic phenotype in children with neurofibromatosis type 1 [texte imprimé] / Anita K. CHISHOLM, Auteur ; Kristina M. HAEBICH, Auteur ; Natalie A. PRIDE, Auteur ; Karin S. WALSH, Auteur ; Francesca LAMI, Auteur ; Alexandra URE, Auteur ; Tiba MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; Melissa ROUEL, Auteur ; Yael GRANADER, Auteur ; Alice MAIER, Auteur ; Belinda BARTON, Auteur ; Hayley DARKE, Auteur ; Gabriel DABSCHECK, Auteur ; Vicki ANDERSON, Auteur ; Katrina WILLIAMS, Auteur ; Kathryn N. NORTH, Auteur ; Jonathan M. PAYNE, Auteur . - 3p. Langues : Anglais (eng) in Molecular Autism > 13 (2022) . - 3p. Mots-clés : Autism  Autism Diagnostic Interview-Revised (ADI-R)  Autism Diagnostic Observation Schedule-Second Edition (ADOS-2)  Autistic behaviours  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management. En ligne : http://dx.doi.org/10.1186/s13229-021-00481-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Un modèle d'intervention cognitivo-fonctionnelle (Cog-Fun) en ergothérapie, auprès d'enfants présentant un trouble déficitaire de l'attention avec ou sans hyperactivité (TDAH) / P. DANTIN in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 172 (Juin 2021)

Public ISBD [article]  inApproche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 172 (Juin 2021) . - p.310-318 Titre : Un modèle d'intervention cognitivo-fonctionnelle (Cog-Fun) en ergothérapie, auprès d'enfants présentant un trouble déficitaire de l'attention avec ou sans hyperactivité (TDAH) Type de document : texte imprimé Auteurs : P. DANTIN, Auteur ; C. MALLET, Auteur ; A.L. MOREL, Auteur ; Charlotte RAMAJO, Auteur ; Alice MAIER, Auteur Article en page(s) : p.310-318 Langues : Français (fre) Mots-clés : Ergothérapie  Trouble déficitaire de l'attention avec ou sans hyperactivité  Modèle d'intervention cognitivo-fonctionnelle  Participation occupationnelle  Fonctions exécutives Index. décimale : PER Périodiques Résumé : Le TDAH impacte les occupations de la personne tout au long de sa vie. Chez l'enfant, cela concerne les soins personnels, les loisirs, la scolarité. L'approche Cog-Fun est un modèle d'intervention en ergothérapie auprès de cette population. Une étude contrôlée randomisée réalisée en 2014 a montré des effets significatifs de Cog-Fun sur la participation et les fonctions exécutives. Cette approche offre aux ergothérapeutes français un modèle d'intervention prometteur et innovant, centré sur l'occupation. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=472 [article] Un modèle d'intervention cognitivo-fonctionnelle (Cog-Fun) en ergothérapie, auprès d'enfants présentant un trouble déficitaire de l'attention avec ou sans hyperactivité (TDAH) [texte imprimé] / P. DANTIN, Auteur ; C. MALLET, Auteur ; A.L. MOREL, Auteur ; Charlotte RAMAJO, Auteur ; Alice MAIER, Auteur . - p.310-318. Langues : Français (fre) in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 172 (Juin 2021) . - p.310-318 Mots-clés : Ergothérapie  Trouble déficitaire de l'attention avec ou sans hyperactivité  Modèle d'intervention cognitivo-fonctionnelle  Participation occupationnelle  Fonctions exécutives Index. décimale : PER Périodiques Résumé : Le TDAH impacte les occupations de la personne tout au long de sa vie. Chez l'enfant, cela concerne les soins personnels, les loisirs, la scolarité. L'approche Cog-Fun est un modèle d'intervention en ergothérapie auprès de cette population. Une étude contrôlée randomisée réalisée en 2014 a montré des effets significatifs de Cog-Fun sur la participation et les fonctions exécutives. Cette approche offre aux ergothérapeutes français un modèle d'intervention prometteur et innovant, centré sur l'occupation. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=472

Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1 / Anita K. CHISHOLM in Journal of Autism and Developmental Disorders, 53-7 (July 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-7 (July 2023) . - p.2835-2850 Titre : Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Anita K. CHISHOLM, Auteur ; Francesca LAMI, Auteur ; Kristina M. HAEBICH, Auteur ; Alex URE, Auteur ; Amanda BRIGNELL, Auteur ; Tiba MALOOF, Auteur ; Natalie A. PRIDE, Auteur ; Karin S. WALSH, Auteur ; Alice MAIER, Auteur ; Melissa ROUEL, Auteur ; Yael GRANADER, Auteur ; Belinda BARTON, Auteur ; Hayley DARKE, Auteur ; Ian FUELSCHER, Auteur ; Gabriel DABSCHECK, Auteur ; Vicki ANDERSON, Auteur ; Katrina WILLIAMS, Auteur ; Kathryn N. NORTH, Auteur ; Jonathan M. PAYNE, Auteur Article en page(s) : p.2835-2850 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ? 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1. En ligne : https://doi.org/10.1007/s10803-022-05571-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1 [texte imprimé] / Anita K. CHISHOLM, Auteur ; Francesca LAMI, Auteur ; Kristina M. HAEBICH, Auteur ; Alex URE, Auteur ; Amanda BRIGNELL, Auteur ; Tiba MALOOF, Auteur ; Natalie A. PRIDE, Auteur ; Karin S. WALSH, Auteur ; Alice MAIER, Auteur ; Melissa ROUEL, Auteur ; Yael GRANADER, Auteur ; Belinda BARTON, Auteur ; Hayley DARKE, Auteur ; Ian FUELSCHER, Auteur ; Gabriel DABSCHECK, Auteur ; Vicki ANDERSON, Auteur ; Katrina WILLIAMS, Auteur ; Kathryn N. NORTH, Auteur ; Jonathan M. PAYNE, Auteur . - p.2835-2850. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-7 (July 2023) . - p.2835-2850 Index. décimale : PER Périodiques Résumé : This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ? 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1. En ligne : https://doi.org/10.1007/s10803-022-05571-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

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