Brain Mechanisms for Processing Direct and Averted Gaze in Individuals with Autism / Naomi PITSKEL in Journal of Autism and Developmental Disorders, 41-12 (December 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1686-1693 Titre : Brain Mechanisms for Processing Direct and Averted Gaze in Individuals with Autism Type de document : texte imprimé Auteurs : Naomi PITSKEL, Auteur ; Danielle Z. BOLLING, Auteur ; Caitlin M. HUDAC, Auteur ; Stephen LANTZ, Auteur ; Nancy J. MINSHEW, Auteur ; Brent C. VANDER WYK, Auteur ; Kevin A. PELPHREY, Auteur Année de publication : 2011 Article en page(s) : p.1686-1693 Langues : Anglais (eng) Mots-clés : Autism  Direct gaze  Averted gaze  Gaze processing  Functional magnetic resonance imaging Index. décimale : PER Périodiques Résumé : Prior studies have indicated brain abnormalities underlying social processing in autism, but no fMRI study has specifically addressed the differential processing of direct and averted gaze, a critical social cue. Fifteen adolescents and adults with autism and 14 typically developing comparison participants viewed dynamic virtual-reality videos depicting a simple but realistic social scenario, in which an approaching male figure maintained either direct or averted gaze. Significant group by condition interactions reflecting differential responses to direct versus averted gaze in people with autism relative to typically developing individuals were identified in the right temporoparietal junction, right anterior insula, left lateral occipital cortex, and left dorsolateral prefrontal cortex. Our results provide initial evidence regarding brain mechanisms underlying the processing of gaze direction during simple social encounters, providing new insight into the social deficits in individuals with autism. En ligne : http://dx.doi.org/10.1007/s10803-011-1197-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148 [article] Brain Mechanisms for Processing Direct and Averted Gaze in Individuals with Autism [texte imprimé] / Naomi PITSKEL, Auteur ; Danielle Z. BOLLING, Auteur ; Caitlin M. HUDAC, Auteur ; Stephen LANTZ, Auteur ; Nancy J. MINSHEW, Auteur ; Brent C. VANDER WYK, Auteur ; Kevin A. PELPHREY, Auteur . - 2011 . - p.1686-1693. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1686-1693 Mots-clés : Autism  Direct gaze  Averted gaze  Gaze processing  Functional magnetic resonance imaging Index. décimale : PER Périodiques Résumé : Prior studies have indicated brain abnormalities underlying social processing in autism, but no fMRI study has specifically addressed the differential processing of direct and averted gaze, a critical social cue. Fifteen adolescents and adults with autism and 14 typically developing comparison participants viewed dynamic virtual-reality videos depicting a simple but realistic social scenario, in which an approaching male figure maintained either direct or averted gaze. Significant group by condition interactions reflecting differential responses to direct versus averted gaze in people with autism relative to typically developing individuals were identified in the right temporoparietal junction, right anterior insula, left lateral occipital cortex, and left dorsolateral prefrontal cortex. Our results provide initial evidence regarding brain mechanisms underlying the processing of gaze direction during simple social encounters, providing new insight into the social deficits in individuals with autism. En ligne : http://dx.doi.org/10.1007/s10803-011-1197-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148

Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case Studies / Avery C. VOOS in Journal of Autism and Developmental Disorders, 43-1 (January 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.1-10 Titre : Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case Studies Type de document : texte imprimé Auteurs : Avery C. VOOS, Auteur ; Kevin A. PELPHREY, Auteur ; Jonathan TIRRELL, Auteur ; Danielle Z. BOLLING, Auteur ; Brent C. VANDER WYK, Auteur ; Martha D. KAISER, Auteur ; James C. MCPARTLAND, Auteur ; Fred R. VOLKMAR, Auteur ; Pamela VENTOLA, Auteur Article en page(s) : p.1-10 Langues : Anglais (eng) Mots-clés : Pivotal response treatment  fMRI  Autism  Intervention  Outcome Index. décimale : PER Périodiques Résumé : Pivotal response treatment (PRT) is an empirically validated behavioral treatment that has widespread positive effects on communication, behavior, and social skills in young children with autism spectrum disorder (ASD). For the first time, functional magnetic resonance imaging was used to identify the neural correlates of successful response to PRT in two young children with ASD. Baseline measures of social communication, adaptive behavior, eye tracking and neural response to social stimuli were taken prior to treatment and after 4 months of PRT. Both children showed striking gains on behavioral measures and also showed increased activation to social stimuli in brain regions utilized by typically developing children. These results suggest that neural systems supporting social perception are malleable through implementation of PRT. En ligne : http://dx.doi.org/10.1007/s10803-012-1683-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case Studies [texte imprimé] / Avery C. VOOS, Auteur ; Kevin A. PELPHREY, Auteur ; Jonathan TIRRELL, Auteur ; Danielle Z. BOLLING, Auteur ; Brent C. VANDER WYK, Auteur ; Martha D. KAISER, Auteur ; James C. MCPARTLAND, Auteur ; Fred R. VOLKMAR, Auteur ; Pamela VENTOLA, Auteur . - p.1-10. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.1-10 Mots-clés : Pivotal response treatment  fMRI  Autism  Intervention  Outcome Index. décimale : PER Périodiques Résumé : Pivotal response treatment (PRT) is an empirically validated behavioral treatment that has widespread positive effects on communication, behavior, and social skills in young children with autism spectrum disorder (ASD). For the first time, functional magnetic resonance imaging was used to identify the neural correlates of successful response to PRT in two young children with ASD. Baseline measures of social communication, adaptive behavior, eye tracking and neural response to social stimuli were taken prior to treatment and after 4 months of PRT. Both children showed striking gains on behavioral measures and also showed increased activation to social stimuli in brain regions utilized by typically developing children. These results suggest that neural systems supporting social perception are malleable through implementation of PRT. En ligne : http://dx.doi.org/10.1007/s10803-012-1683-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

Neurogenetic analysis of childhood disintegrative disorder / Abha R. GUPTA in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 19p. Titre : Neurogenetic analysis of childhood disintegrative disorder Type de document : texte imprimé Auteurs : Abha R. GUPTA, Auteur ; Alexander WESTPHAL, Auteur ; Daniel Y.J. YANG, Auteur ; Catherine A.W. SULLIVAN, Auteur ; Jeffrey EILBOTT, Auteur ; Samir ZAIDI, Auteur ; Avery VOOS, Auteur ; Brent C. VANDER WYK, Auteur ; Pamela VENTOLA, Auteur ; Zainulabedin WAQAR, Auteur ; Thomas V. FERNANDEZ, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; Michael F. WALKER, Auteur ; M. CHOI, Auteur ; Andrea SCHNEIDER, Auteur ; Tammy HEDDERLY, Auteur ; Gillian BAIRD, Auteur ; Hannah FRIEDMAN, Auteur ; Cara CORDEAUX, Auteur ; Alexandra RISTOW, Auteur ; Frederick SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Kevin A. PELPHREY, Auteur Article en page(s) : 19p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Childhood disintegrative disorder (CDD)  Eye tracking  Functional magnetic resonance imaging (fMRI)  Genetics  Intellectual disability (ID)  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. RESULTS: We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. CONCLUSIONS: Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level. En ligne : http://dx.doi.org/10.1186/s13229-017-0133-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Neurogenetic analysis of childhood disintegrative disorder [texte imprimé] / Abha R. GUPTA, Auteur ; Alexander WESTPHAL, Auteur ; Daniel Y.J. YANG, Auteur ; Catherine A.W. SULLIVAN, Auteur ; Jeffrey EILBOTT, Auteur ; Samir ZAIDI, Auteur ; Avery VOOS, Auteur ; Brent C. VANDER WYK, Auteur ; Pamela VENTOLA, Auteur ; Zainulabedin WAQAR, Auteur ; Thomas V. FERNANDEZ, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; Michael F. WALKER, Auteur ; M. CHOI, Auteur ; Andrea SCHNEIDER, Auteur ; Tammy HEDDERLY, Auteur ; Gillian BAIRD, Auteur ; Hannah FRIEDMAN, Auteur ; Cara CORDEAUX, Auteur ; Alexandra RISTOW, Auteur ; Frederick SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Kevin A. PELPHREY, Auteur . - 19p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 19p. Mots-clés : Autism spectrum disorder (ASD)  Childhood disintegrative disorder (CDD)  Eye tracking  Functional magnetic resonance imaging (fMRI)  Genetics  Intellectual disability (ID)  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. RESULTS: We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. CONCLUSIONS: Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level. En ligne : http://dx.doi.org/10.1186/s13229-017-0133-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder / Kevin A. PELPHREY in Journal of Child Psychology and Psychiatry, 52-6 (June 2011)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 52-6 (June 2011) . - p.631-644 Titre : Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder Type de document : texte imprimé Auteurs : Kevin A. PELPHREY, Auteur ; Sarah SHULTZ, Auteur ; Caitlin M. HUDAC, Auteur ; Brent C. VANDER WYK, Auteur Année de publication : 2011 Article en page(s) : p.631-644 Langues : Anglais (eng) Mots-clés : Social perception  social cognition  autism  functional neuroimaging  social brain Index. décimale : PER Périodiques Résumé : The expression of autism spectrum disorder (ASD) is highly heterogeneous, owing to the complex interactions between genes, the brain, and behavior throughout development. Here we present a model of ASD that implicates an early and initial failure to develop the specialized functions of one or more of the set of neuroanatomical structures involved in social information processing (i.e., the ‘social brain’). From this early and primary disruption, abnormal brain development is canalized because the individual with an ASD must develop in a highly social world without the specialized neural systems that would ordinarily allow him or her to partake in the fabric of social life, which is woven from the thread of opportunities for social reciprocity and the tools of social engagement. This brain canalization gives rise to other characteristic behavioral deficits in ASD including deficits in communication, restricted interests, and repetitive behaviors. We propose that focused efforts to explore the brain mechanisms underlying the core, pathognomic deficits in the development of mechanisms for social engagement in ASD will greatly elucidate our understanding and treatment of this complex, devastating family of neurodevelopmental disorders. In particular, developmental studies (i.e., longitudinal studies of young children with and without ASD, as well as infants at increased risk for being identified with ASD) of the neural circuitry supporting key aspects of social information processing are likely to provide important insights into the underlying components of the full-syndrome of ASD. These studies could also contribute to the identification of developmental brain endophenotypes to facilitate genetic studies. The potential for this kind of approach is illustrated via examples of functional neuroimaging research from our own laboratory implicating the posterior superior temporal sulcus (STS) as a key player in the set of neural structures giving rise to ASD. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2010.02349.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=126 [article] Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder [texte imprimé] / Kevin A. PELPHREY, Auteur ; Sarah SHULTZ, Auteur ; Caitlin M. HUDAC, Auteur ; Brent C. VANDER WYK, Auteur . - 2011 . - p.631-644. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 52-6 (June 2011) . - p.631-644 Mots-clés : Social perception  social cognition  autism  functional neuroimaging  social brain Index. décimale : PER Périodiques Résumé : The expression of autism spectrum disorder (ASD) is highly heterogeneous, owing to the complex interactions between genes, the brain, and behavior throughout development. Here we present a model of ASD that implicates an early and initial failure to develop the specialized functions of one or more of the set of neuroanatomical structures involved in social information processing (i.e., the ‘social brain’). From this early and primary disruption, abnormal brain development is canalized because the individual with an ASD must develop in a highly social world without the specialized neural systems that would ordinarily allow him or her to partake in the fabric of social life, which is woven from the thread of opportunities for social reciprocity and the tools of social engagement. This brain canalization gives rise to other characteristic behavioral deficits in ASD including deficits in communication, restricted interests, and repetitive behaviors. We propose that focused efforts to explore the brain mechanisms underlying the core, pathognomic deficits in the development of mechanisms for social engagement in ASD will greatly elucidate our understanding and treatment of this complex, devastating family of neurodevelopmental disorders. In particular, developmental studies (i.e., longitudinal studies of young children with and without ASD, as well as infants at increased risk for being identified with ASD) of the neural circuitry supporting key aspects of social information processing are likely to provide important insights into the underlying components of the full-syndrome of ASD. These studies could also contribute to the identification of developmental brain endophenotypes to facilitate genetic studies. The potential for this kind of approach is illustrated via examples of functional neuroimaging research from our own laboratory implicating the posterior superior temporal sulcus (STS) as a key player in the set of neural structures giving rise to ASD. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2010.02349.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=126

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