Brain function distinguishes female carriers and non-carriers of familial risk for autism / Adam T. EGGEBRECHT in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 82 p. Titre : Brain function distinguishes female carriers and non-carriers of familial risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Adam T. EGGEBRECHT, Auteur ; Ally DWORETSKY, Auteur ; Zoe HAWKS, Auteur ; Rebecca COALSON, Auteur ; Babatunde ADEYEMO, Auteur ; Savannah DAVIS, Auteur ; Daniel GRAY, Auteur ; Alana MCMICHAEL, Auteur ; Steven E. PETERSEN, Auteur ; John N. CONSTANTINO, Auteur ; John R. Jr PRUETT, Auteur Année de publication : 2020 Article en page(s) : 82 p. Langues : Anglais (eng) Mots-clés : Biological motion  Endophenotype  Familial risk  Sex ratio  Silent transmission  Responsiveness Scale-2 (SRS-2), a quantitative measure of autistic traits used in  this study—no royalties were generated from the implementation of the SRS-2 in this  program of research. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed ("carrier") females. METHODS: Using functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays-depicting biological versus non-biological motion-in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females-i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm. RESULTS: We observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies. LIMITATIONS: We were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position. CONCLUSIONS: These methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00381-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 [article] Brain function distinguishes female carriers and non-carriers of familial risk for autism [Texte imprimé et/ou numérique] / Adam T. EGGEBRECHT, Auteur ; Ally DWORETSKY, Auteur ; Zoe HAWKS, Auteur ; Rebecca COALSON, Auteur ; Babatunde ADEYEMO, Auteur ; Savannah DAVIS, Auteur ; Daniel GRAY, Auteur ; Alana MCMICHAEL, Auteur ; Steven E. PETERSEN, Auteur ; John N. CONSTANTINO, Auteur ; John R. Jr PRUETT, Auteur . - 2020 . - 82 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 82 p. Mots-clés : Biological motion  Endophenotype  Familial risk  Sex ratio  Silent transmission  Responsiveness Scale-2 (SRS-2), a quantitative measure of autistic traits used in  this study—no royalties were generated from the implementation of the SRS-2 in this  program of research. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed ("carrier") females. METHODS: Using functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays-depicting biological versus non-biological motion-in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females-i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm. RESULTS: We observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies. LIMITATIONS: We were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position. CONCLUSIONS: These methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00381-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433

Mapping neural correlates of biological motion perception in autistic children using high-density diffuse optical tomography / Dalin YANG in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 35p. Titre : Mapping neural correlates of biological motion perception in autistic children using high-density diffuse optical tomography Type de document : Texte imprimé et/ou numérique Auteurs : Dalin YANG, Auteur ; Alexandra M. SVOBODA, Auteur ; Tessa G. GEORGE, Auteur ; Patricia K. MANSFIELD, Auteur ; Muriah D. WHEELOCK, Auteur ; Mariel L. SCHROEDER, Auteur ; Sean M. RAFFERTY, Auteur ; Arefeh SHERAFATI, Auteur ; Kalyan TRIPATHY, Auteur ; Tracy BURNS-YOCUM, Auteur ; Elizabeth FORSEN, Auteur ; John R. PRUETT, Auteur ; Natasha M. MARRUS, Auteur ; Joseph P CULVER, Auteur ; John N. CONSTANTINO, Auteur ; Adam T. EGGEBRECHT, Auteur Article en page(s) : 35p. Langues : Anglais (eng) Mots-clés : Humans  Tomography, Optical/methods  Male  Child  Female  Motion Perception/physiology  Brain Mapping/methods  Autism Spectrum Disorder/diagnostic imaging/physiopathology  Brain/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology/diagnostic imaging  Magnetic Resonance Imaging/methods  Adolescent  Autism spectrum disorder  Biological motion  High-density diffuse optical tomography  Neuroimaging  Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD), a neurodevelopmental disorder defined by social communication deficits plus repetitive behaviors and restricted interests, currently affects 1/36 children in the general population. Recent advances in functional brain imaging show promise to provide useful biomarkers of ASD diagnostic likelihood, behavioral trait severity, and even response to therapeutic intervention. However, current gold-standard neuroimaging methods (e.g., functional magnetic resonance imaging, fMRI) are limited in naturalistic studies of brain function underlying ASD-associated behaviors due to the constrained imaging environment. Compared to fMRI, high-density diffuse optical tomography (HD-DOT), a non-invasive and minimally constraining optical neuroimaging modality, can overcome these limitations. Herein, we aimed to establish HD-DOT to evaluate brain function in autistic and non-autistic school-age children as they performed a biological motion perception task previously shown to yield results related to both ASD diagnosis and behavioral traits. METHODS: We used HD-DOT to image brain function in 46 ASD school-age participants and 49 non-autistic individuals (NAI) as they viewed dynamic point-light displays of coherent biological and scrambled motion. We assessed group-level cortical brain function with statistical parametric mapping. Additionally, we tested for brain-behavior associations with dimensional metrics of autism traits, as measured with the Social Responsiveness Scale-2, with hierarchical regression models. RESULTS: We found that NAI participants presented stronger brain activity contrast (coherent > scrambled) than ASD children in cortical regions related to visual, motor, and social processing. Additionally, regression models revealed multiple cortical regions in autistic participants where brain function is significantly associated with dimensional measures of ASD traits. LIMITATIONS: Optical imaging methods are limited in depth sensitivity and so cannot measure brain activity within deep subcortical regions. However, the field of view of this HD-DOT system includes multiple brain regions previously implicated in both task-based and task-free studies on autism. CONCLUSIONS: This study demonstrates that HD-DOT is sensitive to brain function that both differentiates between NAI and ASD groups and correlates with dimensional measures of ASD traits. These findings establish HD-DOT as an effective tool for investigating brain function in autistic and non-autistic children. Moreover, this study established neural correlates related to biological motion perception and its association with dimensional measures of ASD traits. En ligne : https://dx.doi.org/10.1186/s13229-024-00614-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Mapping neural correlates of biological motion perception in autistic children using high-density diffuse optical tomography [Texte imprimé et/ou numérique] / Dalin YANG, Auteur ; Alexandra M. SVOBODA, Auteur ; Tessa G. GEORGE, Auteur ; Patricia K. MANSFIELD, Auteur ; Muriah D. WHEELOCK, Auteur ; Mariel L. SCHROEDER, Auteur ; Sean M. RAFFERTY, Auteur ; Arefeh SHERAFATI, Auteur ; Kalyan TRIPATHY, Auteur ; Tracy BURNS-YOCUM, Auteur ; Elizabeth FORSEN, Auteur ; John R. PRUETT, Auteur ; Natasha M. MARRUS, Auteur ; Joseph P CULVER, Auteur ; John N. CONSTANTINO, Auteur ; Adam T. EGGEBRECHT, Auteur . - 35p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 35p. Mots-clés : Humans  Tomography, Optical/methods  Male  Child  Female  Motion Perception/physiology  Brain Mapping/methods  Autism Spectrum Disorder/diagnostic imaging/physiopathology  Brain/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology/diagnostic imaging  Magnetic Resonance Imaging/methods  Adolescent  Autism spectrum disorder  Biological motion  High-density diffuse optical tomography  Neuroimaging  Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD), a neurodevelopmental disorder defined by social communication deficits plus repetitive behaviors and restricted interests, currently affects 1/36 children in the general population. Recent advances in functional brain imaging show promise to provide useful biomarkers of ASD diagnostic likelihood, behavioral trait severity, and even response to therapeutic intervention. However, current gold-standard neuroimaging methods (e.g., functional magnetic resonance imaging, fMRI) are limited in naturalistic studies of brain function underlying ASD-associated behaviors due to the constrained imaging environment. Compared to fMRI, high-density diffuse optical tomography (HD-DOT), a non-invasive and minimally constraining optical neuroimaging modality, can overcome these limitations. Herein, we aimed to establish HD-DOT to evaluate brain function in autistic and non-autistic school-age children as they performed a biological motion perception task previously shown to yield results related to both ASD diagnosis and behavioral traits. METHODS: We used HD-DOT to image brain function in 46 ASD school-age participants and 49 non-autistic individuals (NAI) as they viewed dynamic point-light displays of coherent biological and scrambled motion. We assessed group-level cortical brain function with statistical parametric mapping. Additionally, we tested for brain-behavior associations with dimensional metrics of autism traits, as measured with the Social Responsiveness Scale-2, with hierarchical regression models. RESULTS: We found that NAI participants presented stronger brain activity contrast (coherent > scrambled) than ASD children in cortical regions related to visual, motor, and social processing. Additionally, regression models revealed multiple cortical regions in autistic participants where brain function is significantly associated with dimensional measures of ASD traits. LIMITATIONS: Optical imaging methods are limited in depth sensitivity and so cannot measure brain activity within deep subcortical regions. However, the field of view of this HD-DOT system includes multiple brain regions previously implicated in both task-based and task-free studies on autism. CONCLUSIONS: This study demonstrates that HD-DOT is sensitive to brain function that both differentiates between NAI and ASD groups and correlates with dimensional measures of ASD traits. These findings establish HD-DOT as an effective tool for investigating brain function in autistic and non-autistic children. Moreover, this study established neural correlates related to biological motion perception and its association with dimensional measures of ASD traits. En ligne : https://dx.doi.org/10.1186/s13229-024-00614-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

Social motivation in infancy is associated with familial recurrence of ASD / Natasha MARRUS in Development and Psychopathology, 36-1 (February 2024)  

Public ISBD [article]  inDevelopment and Psychopathology > 36-1 (February 2024) . - p.101-111 Titre : Social motivation in infancy is associated with familial recurrence of ASD Type de document : Texte imprimé et/ou numérique Auteurs : Natasha MARRUS, Auteur ; Kelly N. BOTTERON, Auteur ; Zoe HAWKS, Auteur ; John R. PRUETT, Auteur ; Jed T. ELISON, Auteur ; Joshua J. JACKSON, Auteur ; Lori MARKSON, Auteur ; Adam T. EGGEBRECHT, Auteur ; Catherine A. BURROWS, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Stephen R. DAGER, Auteur ; Annette M. ESTES, Auteur ; Heather Cody HAZLETT, Auteur ; Robert T. SCHULTZ, Auteur ; Joseph PIVEN, Auteur ; John N. CONSTANTINO, Auteur Article en page(s) : p.101-111 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  infancy  measurement  social motivation Index. décimale : PER Périodiques Résumé : Pre-diagnostic deficits in social motivation are hypothesized to contribute to autism spectrum disorder (ASD), a heritable neurodevelopmental condition. We evaluated psychometric properties of a social motivation index (SMI) using parent-report item-level data from 597 participants in a prospective cohort of infant siblings at high and low familial risk for ASD. We tested whether lower SMI scores at 6, 12, and 24 months were associated with a 24-month ASD diagnosis and whether social motivation?s course differed relative to familial ASD liability. The SMI displayed good internal consistency and temporal stability. Children diagnosed with ASD displayed lower mean SMI T-scores at all ages and a decrease in mean T-scores across age. Lower group-level 6-month scores corresponded with higher familial ASD liability. Among high-risk infants, strong decline in SMI T-scores was associated with 10-fold odds of diagnosis. Infant social motivation is quantifiable by parental report, differentiates children with versus without later ASD by age 6 months, and tracks with familial ASD liability, consistent with a diagnostic and susceptibility marker of ASD. Early decrements and decline in social motivation indicate increased likelihood of ASD, highlighting social motivation?s importance to risk assessment and clarification of the ontogeny of ASD. En ligne : https://dx.doi.org/10.1017/S0954579422001006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=523 [article] Social motivation in infancy is associated with familial recurrence of ASD [Texte imprimé et/ou numérique] / Natasha MARRUS, Auteur ; Kelly N. BOTTERON, Auteur ; Zoe HAWKS, Auteur ; John R. PRUETT, Auteur ; Jed T. ELISON, Auteur ; Joshua J. JACKSON, Auteur ; Lori MARKSON, Auteur ; Adam T. EGGEBRECHT, Auteur ; Catherine A. BURROWS, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Stephen R. DAGER, Auteur ; Annette M. ESTES, Auteur ; Heather Cody HAZLETT, Auteur ; Robert T. SCHULTZ, Auteur ; Joseph PIVEN, Auteur ; John N. CONSTANTINO, Auteur . - p.101-111. Langues : Anglais (eng) in Development and Psychopathology > 36-1 (February 2024) . - p.101-111 Mots-clés : autism spectrum disorder  infancy  measurement  social motivation Index. décimale : PER Périodiques Résumé : Pre-diagnostic deficits in social motivation are hypothesized to contribute to autism spectrum disorder (ASD), a heritable neurodevelopmental condition. We evaluated psychometric properties of a social motivation index (SMI) using parent-report item-level data from 597 participants in a prospective cohort of infant siblings at high and low familial risk for ASD. We tested whether lower SMI scores at 6, 12, and 24 months were associated with a 24-month ASD diagnosis and whether social motivation?s course differed relative to familial ASD liability. The SMI displayed good internal consistency and temporal stability. Children diagnosed with ASD displayed lower mean SMI T-scores at all ages and a decrease in mean T-scores across age. Lower group-level 6-month scores corresponded with higher familial ASD liability. Among high-risk infants, strong decline in SMI T-scores was associated with 10-fold odds of diagnosis. Infant social motivation is quantifiable by parental report, differentiates children with versus without later ASD by age 6 months, and tracks with familial ASD liability, consistent with a diagnostic and susceptibility marker of ASD. Early decrements and decline in social motivation indicate increased likelihood of ASD, highlighting social motivation?s importance to risk assessment and clarification of the ontogeny of ASD. En ligne : https://dx.doi.org/10.1017/S0954579422001006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=523

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