Delineating the autistic phenotype in children with neurofibromatosis type 1 / A. 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 et/ou numérique Auteurs : A. K. CHISHOLM, Auteur ; K. M. HAEBICH, Auteur ; N. A. PRIDE, Auteur ; K. S. WALSH, Auteur ; F. LAMI, Auteur ; A. URE, Auteur ; T. MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; M. ROUEL, Auteur ; Y. GRANADER, Auteur ; A. MAIER, Auteur ; B. BARTON, Auteur ; H. DARKE, Auteur ; G. DABSCHECK, Auteur ; V. A. ANDERSON, Auteur ; K. WILLIAMS, Auteur ; K. N. NORTH, Auteur ; J. 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 et/ou numérique] / A. K. CHISHOLM, Auteur ; K. M. HAEBICH, Auteur ; N. A. PRIDE, Auteur ; K. S. WALSH, Auteur ; F. LAMI, Auteur ; A. URE, Auteur ; T. MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; M. ROUEL, Auteur ; Y. GRANADER, Auteur ; A. MAIER, Auteur ; B. BARTON, Auteur ; H. DARKE, Auteur ; G. DABSCHECK, Auteur ; V. A. ANDERSON, Auteur ; K. WILLIAMS, Auteur ; K. N. NORTH, Auteur ; J. 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

The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology / R. KNOTT in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 55 p. Titre : The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology Type de document : Texte imprimé et/ou numérique Auteurs : R. KNOTT, Auteur ; Beth P. JOHNSON, Auteur ; J. TIEGO, Auteur ; O. MELLAHN, Auteur ; A. FINLAY, Auteur ; K. KALLADY, Auteur ; M. KOUSPOS, Auteur ; V. P. MOHANAKUMAR SINDHU, Auteur ; Z. HAWI, Auteur ; A. ARNATKEVICIUTE, Auteur ; T. CHAU, Auteur ; D. MARON, Auteur ; E. C. MERCIECA, Auteur ; K. FURLEY, Auteur ; K. HARRIS, Auteur ; K. WILLIAMS, Auteur ; A. URE, Auteur ; A. FORNITO, Auteur ; K. GRAY, Auteur ; D. COGHILL, Auteur ; A. NICHOLSON, Auteur ; D. PHUNG, Auteur ; E. LOTH, Auteur ; L. MASON, Auteur ; D. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Mark A. BELLGROVE, Auteur Article en page(s) : 55 p. Langues : Anglais (eng) Mots-clés : Adhd  Asd  Cognition  Eye-tracking  Genetics  HiTOP  Neuroimaging  RDoC Index. décimale : PER Périodiques Résumé : BACKGROUND: ASD and ADHD are prevalent neurodevelopmental disorders that frequently co-occur and have strong evidence for a degree of shared genetic aetiology. Behavioural and neurocognitive heterogeneity in ASD and ADHD has hampered attempts to map the underlying genetics and neurobiology, predict intervention response, and improve diagnostic accuracy. Moving away from categorical conceptualisations of psychopathology to a dimensional approach is anticipated to facilitate discovery of data-driven clusters and enhance our understanding of the neurobiological and genetic aetiology of these conditions. The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project is one of the first large-scale, family-based studies to take a truly transdiagnostic approach to ASD and ADHD. Using a comprehensive phenotyping protocol capturing dimensional traits central to ASD and ADHD, the MAGNET project aims to identify data-driven clusters across ADHD-ASD spectra using deep phenotyping of symptoms and behaviours; investigate the degree of familiality for different dimensional ASD-ADHD phenotypes and clusters; and map the neurocognitive, brain imaging, and genetic correlates of these data-driven symptom-based clusters. METHODS: The MAGNET project will recruit 1,200 families with children who are either typically developing, or who display elevated ASD, ADHD, or ASD-ADHD traits, in addition to affected and unaffected biological siblings of probands, and parents. All children will be comprehensively phenotyped for behavioural symptoms, comorbidities, neurocognitive and neuroimaging traits and genetics. CONCLUSION: The MAGNET project will be the first large-scale family study to take a transdiagnostic approach to ASD-ADHD, utilising deep phenotyping across behavioural, neurocognitive, brain imaging and genetic measures. En ligne : http://dx.doi.org/10.1186/s13229-021-00457-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology [Texte imprimé et/ou numérique] / R. KNOTT, Auteur ; Beth P. JOHNSON, Auteur ; J. TIEGO, Auteur ; O. MELLAHN, Auteur ; A. FINLAY, Auteur ; K. KALLADY, Auteur ; M. KOUSPOS, Auteur ; V. P. MOHANAKUMAR SINDHU, Auteur ; Z. HAWI, Auteur ; A. ARNATKEVICIUTE, Auteur ; T. CHAU, Auteur ; D. MARON, Auteur ; E. C. MERCIECA, Auteur ; K. FURLEY, Auteur ; K. HARRIS, Auteur ; K. WILLIAMS, Auteur ; A. URE, Auteur ; A. FORNITO, Auteur ; K. GRAY, Auteur ; D. COGHILL, Auteur ; A. NICHOLSON, Auteur ; D. PHUNG, Auteur ; E. LOTH, Auteur ; L. MASON, Auteur ; D. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Mark A. BELLGROVE, Auteur . - 55 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 55 p. Mots-clés : Adhd  Asd  Cognition  Eye-tracking  Genetics  HiTOP  Neuroimaging  RDoC Index. décimale : PER Périodiques Résumé : BACKGROUND: ASD and ADHD are prevalent neurodevelopmental disorders that frequently co-occur and have strong evidence for a degree of shared genetic aetiology. Behavioural and neurocognitive heterogeneity in ASD and ADHD has hampered attempts to map the underlying genetics and neurobiology, predict intervention response, and improve diagnostic accuracy. Moving away from categorical conceptualisations of psychopathology to a dimensional approach is anticipated to facilitate discovery of data-driven clusters and enhance our understanding of the neurobiological and genetic aetiology of these conditions. The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project is one of the first large-scale, family-based studies to take a truly transdiagnostic approach to ASD and ADHD. Using a comprehensive phenotyping protocol capturing dimensional traits central to ASD and ADHD, the MAGNET project aims to identify data-driven clusters across ADHD-ASD spectra using deep phenotyping of symptoms and behaviours; investigate the degree of familiality for different dimensional ASD-ADHD phenotypes and clusters; and map the neurocognitive, brain imaging, and genetic correlates of these data-driven symptom-based clusters. METHODS: The MAGNET project will recruit 1,200 families with children who are either typically developing, or who display elevated ASD, ADHD, or ASD-ADHD traits, in addition to affected and unaffected biological siblings of probands, and parents. All children will be comprehensively phenotyped for behavioural symptoms, comorbidities, neurocognitive and neuroimaging traits and genetics. CONCLUSION: The MAGNET project will be the first large-scale family study to take a transdiagnostic approach to ASD-ADHD, utilising deep phenotyping across behavioural, neurocognitive, brain imaging and genetic measures. En ligne : http://dx.doi.org/10.1186/s13229-021-00457-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

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