Assessment of the Core Features of ASD / Raphael A. BERNIER

Public ISBD in Handbook of Early Intervention for Autism Spectrum Disorders / Jonathan TARBOX Titre : Assessment of the Core Features of ASD Type de document : texte imprimé Auteurs : Raphael A. BERNIER, Auteur Année de publication : 2014 Importance : p.65-86 Langues : Anglais (eng) Mots-clés : Assessment  Evaluation Index. décimale : APP-D APP-D - Interventions Educatives - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 in Handbook of Early Intervention for Autism Spectrum Disorders / Jonathan TARBOX Assessment of the Core Features of ASD [texte imprimé] / Raphael A. BERNIER, Auteur . - 2014 . - p.65-86. Langues : Anglais (eng) Mots-clés : Assessment  Evaluation Index. décimale : APP-D APP-D - Interventions Educatives - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265

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Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism / K. LUHRS in Autism Research and Treatment, 2017 (2017)  

Public ISBD [article]  inAutism Research and Treatment > 2017 (2017) Titre : Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism Type de document : texte imprimé Auteurs : K. LUHRS, Auteur ; Tracey WARD, Auteur ; Caitlin M. HUDAC, Auteur ; Jennifer GERDTS, Auteur ; Holly A.F. STESSMAN, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n = 62), de novo deletion copy number variations (DEL, n = 74), de novo likely gene-disrupting mutations (LGDM, n = 267), and children without a known genetic etiology (NON, n = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships. En ligne : http://dx.doi.org/10.1155/2017/9371964 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333 [article] Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism [texte imprimé] / K. LUHRS, Auteur ; Tracey WARD, Auteur ; Caitlin M. HUDAC, Auteur ; Jennifer GERDTS, Auteur ; Holly A.F. STESSMAN, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur. Langues : Anglais (eng) in Autism Research and Treatment > 2017 (2017) Index. décimale : PER Périodiques Résumé : The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n = 62), de novo deletion copy number variations (DEL, n = 74), de novo likely gene-disrupting mutations (LGDM, n = 267), and children without a known genetic etiology (NON, n = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships. En ligne : http://dx.doi.org/10.1155/2017/9371964 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333

Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study / Tawny TSANG in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3220-3229 Titre : Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study Type de document : texte imprimé Auteurs : Tawny TSANG, Auteur ; Adam J. NAPLES, Auteur ; Erin C. BARNEY, Auteur ; Minhang XIE, Auteur ; Raphael A. BERNIER, Auteur ; Geraldine DAWSON, Auteur ; James DZIURA, Auteur ; Susan FAJA, Auteur ; Shafali S. JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Charles A. NELSON, Auteur ; Michael MURIAS, Auteur ; Helen SEOW, Auteur ; Catherine SUGAR, Auteur ; Sara J. WEBB, Auteur ; Frederick SHIC, Auteur ; Scott JOHNSON, Auteur Article en page(s) : p.3220-3229 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Visual exploration paradigms involving object arrays have been used to examine salience of social stimuli such as faces in ASD. Recent work suggests performance on these paradigms may associate with clinical features of ASD. We evaluate metrics from a visual exploration paradigm in 4-to-11-year-old children with ASD (n 23; 18 males) and typical development (TD; n 23; 13 males). Presented with arrays containing faces and nonsocial stimuli, children with ASD looked less at (p 0.002) and showed fewer fixations to (p 0.022) faces than TD children, and spent less time looking at each object on average (p 0.004). Attention to the screen and faces correlated positively with social and cognitive skills in the ASD group (ps < .05). This work furthers our understanding of objective measures of visual exploration in ASD and its potential for quantifying features of ASD. En ligne : https://doi.org/10.1007/s10803-022-05569-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study [texte imprimé] / Tawny TSANG, Auteur ; Adam J. NAPLES, Auteur ; Erin C. BARNEY, Auteur ; Minhang XIE, Auteur ; Raphael A. BERNIER, Auteur ; Geraldine DAWSON, Auteur ; James DZIURA, Auteur ; Susan FAJA, Auteur ; Shafali S. JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Charles A. NELSON, Auteur ; Michael MURIAS, Auteur ; Helen SEOW, Auteur ; Catherine SUGAR, Auteur ; Sara J. WEBB, Auteur ; Frederick SHIC, Auteur ; Scott JOHNSON, Auteur . - p.3220-3229. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3220-3229 Index. décimale : PER Périodiques Résumé : Visual exploration paradigms involving object arrays have been used to examine salience of social stimuli such as faces in ASD. Recent work suggests performance on these paradigms may associate with clinical features of ASD. We evaluate metrics from a visual exploration paradigm in 4-to-11-year-old children with ASD (n 23; 18 males) and typical development (TD; n 23; 13 males). Presented with arrays containing faces and nonsocial stimuli, children with ASD looked less at (p 0.002) and showed fewer fixations to (p 0.022) faces than TD children, and spent less time looking at each object on average (p 0.004). Attention to the screen and faces correlated positively with social and cognitive skills in the ASD group (ps < .05). This work furthers our understanding of objective measures of visual exploration in ASD and its potential for quantifying features of ASD. En ligne : https://doi.org/10.1007/s10803-022-05569-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : texte imprimé Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [texte imprimé] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations / Evangeline C. KURTZ-NELSON in Journal of Autism and Developmental Disorders, 51-9 (September 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3365-3373 Titre : Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations Type de document : texte imprimé Auteurs : Evangeline C. KURTZ-NELSON, Auteur ; See Wan THAM, Auteur ; Kaitlyn AHLERS, Auteur ; Daniel CHO, Auteur ; Arianne S. WALLACE, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur ; Rachel K. EARL, Auteur Article en page(s) : p.3365-3373 Langues : Anglais (eng) Mots-clés : Abdominal Pain/genetics  Autism Spectrum Disorder/epidemiology/genetics  Humans  Mutation  Risk Factors  Self-Injurious Behavior/epidemiology/genetics  Abdominal pain  Autism spectrum disorder  Intellectual disability  Rare genetic disorders  Self-injurious behavior  Inc. The remaining authors have no conflicts of interest to report. Index. décimale : PER Périodiques Résumé : Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30% of participants and associated with poorer cognitive and adaptive skills. History of severe abdominal pain predicted higher rates of SIB and SIB severity after controlling for age and adaptive behavior; individuals with a history of severe abdominal pain were eight times more likely to exhibit SIB than those with no history. Future research is needed to examine associations between genetic risk, pain, and SIB in this population. En ligne : http://dx.doi.org/10.1007/s10803-020-04774-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations [texte imprimé] / Evangeline C. KURTZ-NELSON, Auteur ; See Wan THAM, Auteur ; Kaitlyn AHLERS, Auteur ; Daniel CHO, Auteur ; Arianne S. WALLACE, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur ; Rachel K. EARL, Auteur . - p.3365-3373. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3365-3373 Mots-clés : Abdominal Pain/genetics  Autism Spectrum Disorder/epidemiology/genetics  Humans  Mutation  Risk Factors  Self-Injurious Behavior/epidemiology/genetics  Abdominal pain  Autism spectrum disorder  Intellectual disability  Rare genetic disorders  Self-injurious behavior  Inc. The remaining authors have no conflicts of interest to report. Index. décimale : PER Périodiques Résumé : Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30% of participants and associated with poorer cognitive and adaptive skills. History of severe abdominal pain predicted higher rates of SIB and SIB severity after controlling for age and adaptive behavior; individuals with a history of severe abdominal pain were eight times more likely to exhibit SIB than those with no history. Future research is needed to examine associations between genetic risk, pain, and SIB in this population. En ligne : http://dx.doi.org/10.1007/s10803-020-04774-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Brief Report: Can a Composite Heart Rate Variability Biomarker Shed New Insights About Autism Spectrum Disorder in School-Aged Children? / Martin G. FRASCH in Journal of Autism and Developmental Disorders, 51-1 (January 2021)  

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Brief Report: Social Skills, Internalizing and Externalizing Symptoms, and Respiratory Sinus Arrhythmia in Autism / Emily NEUHAUS in Journal of Autism and Developmental Disorders, 44-3 (March 2014)  

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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability / Caitlin M. HUDAC in Journal of Autism and Developmental Disorders, 54-6 (June 2024)  

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Characterizing the autism spectrum phenotype in DYRK1A-related syndrome / Evangeline C. KURTZ-NELSON in Autism Research, 16-8 (August 2023)  

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Child and family characteristics moderate agreement between caregiver and clinician report of autism symptoms / Emily NEUHAUS in Autism Research, 11-3 (March 2018)  

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Children with Autism Show Altered Autonomic Adaptation to Novel and Familiar Social Partners / Emily NEUHAUS in Autism Research, 9-5 (May 2016)  

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Clinical phenotype of ASD-associated DYRK1A haploinsufficiency / Rachel K. EARL in Molecular Autism, 8 (2017)  

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Clinician-caregiver informant discrepancy is associated with sex, diagnosis age, and intervention use among autistic children / Margaret A. AZU in Autism, 29-3 (March 2025)  

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A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder / Megha SANTHOSH ; Emily NEUHAUS ; Catherine A.W. SULLIVAN ; Raphael A. BERNIER ; Susan Y. BOOKHEIMER ; Mirella DAPRETTO ; Daniel H. GESCHWIND ; Allison JACK ; James C. MCPARTLAND ; John D. VAN HORN ; Kevin A. PELPHREY ; Abha R. GUPTA ; Sara Jane WEBB ; THE A.C.E. GENDAAR NETWORK in Autism Research, 18-5 (May 2025)  

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Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk / Anne B. ARNETT in Journal of Child Psychology and Psychiatry, 59-3 (March 2018)  

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