46 recherche sur le mot-clé 'Endophenotype'

Face individual identity recognition: a potential endophenotype in autism / Ilaria MINIO-PALUELLO in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 81 p. Titre : Face individual identity recognition: a potential endophenotype in autism Type de document : Texte imprimé et/ou numérique Auteurs : Ilaria MINIO-PALUELLO, Auteur ; Giuseppina PORCIELLO, Auteur ; Alvaro PASCUAL-LEONE, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : 81 p. Langues : Anglais (eng) Mots-clés : Autism  Emotion recognition  Endophenotype  Face memory  Heterogeneity  Individual identity recognition  Prosopagnosia  Social memory  Theory of mind  Neuroelectrics, Neosync, NovaVision, Magstim, and Cognito and is listed as an  inventor on several issued and pending patents on the real-time integration of  transcranial magnetic stimulation with electroencephalography and magnetic resonance  imaging. The other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Face individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2-3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties. METHODS: The present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms' severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires. RESULTS: More than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom's severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants' basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills. LIMITATIONS: We did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum. CONCLUSIONS: Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models. En ligne : http://dx.doi.org/10.1186/s13229-020-00371-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 [article] Face individual identity recognition: a potential endophenotype in autism [Texte imprimé et/ou numérique] / Ilaria MINIO-PALUELLO, Auteur ; Giuseppina PORCIELLO, Auteur ; Alvaro PASCUAL-LEONE, Auteur ; Simon BARON-COHEN, Auteur . - 81 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 81 p. Mots-clés : Autism  Emotion recognition  Endophenotype  Face memory  Heterogeneity  Individual identity recognition  Prosopagnosia  Social memory  Theory of mind  Neuroelectrics, Neosync, NovaVision, Magstim, and Cognito and is listed as an  inventor on several issued and pending patents on the real-time integration of  transcranial magnetic stimulation with electroencephalography and magnetic resonance  imaging. The other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Face individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2-3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties. METHODS: The present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms' severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires. RESULTS: More than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom's severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants' basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills. LIMITATIONS: We did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum. CONCLUSIONS: Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models. En ligne : http://dx.doi.org/10.1186/s13229-020-00371-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433

Failure to deactivate the default mode network indicates a possible endophenotype of autism / Michael D. SPENCER in Molecular Autism, (December 2012)  

Public ISBD [article]  inMolecular Autism > (December 2012) . - 9 p. Titre : Failure to deactivate the default mode network indicates a possible endophenotype of autism Type de document : Texte imprimé et/ou numérique Auteurs : Michael D. SPENCER, Auteur ; Lindsay CHURA, Auteur ; Rosemary HOLT, Auteur ; John SUCKLING, Auteur ; Andrew J. CALDER, Auteur ; Edward T. BULLMORE, Auteur ; Simon BARON-COHEN, Auteur Année de publication : 2012 Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : Autism  Default mode network  Functional MRI  Endophenotype Index. décimale : PER Périodiques Résumé : BACKGROUND:Reduced activity during cognitively demanding tasks has been reported in the default mode network in typically developing controls and individuals with autism. However, no study has investigated the default mode network (DMN) in first-degree relatives of those with autism (such as siblings) and it is not known whether atypical activation of the DMN is specific to autism or whether it is also present in unaffected relatives. Here we use functional magnetic resonance imaging to investigate the pattern of task-related deactivation during completion of a visual search task, the Embedded Figures Task, in teenagers with autism, their unaffected siblings and typically developing controls.FINDINGS:We identified striking reductions in deactivation during the Embedded Figures Task in unaffected siblings compared to controls in brain regions corresponding to the default mode network. Adolescents with autism and their unaffected siblings similarly failed to deactivate regions, including posterior cingulate and bilateral inferior parietal cortex.CONCLUSIONS:This suggests that a failure to deactivate these regions is a functional endophenotype of autism, related to familial risk for the condition shared between individuals with autism and their siblings. En ligne : http://dx.doi.org/10.1186/2040-2392-3-15 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Failure to deactivate the default mode network indicates a possible endophenotype of autism [Texte imprimé et/ou numérique] / Michael D. SPENCER, Auteur ; Lindsay CHURA, Auteur ; Rosemary HOLT, Auteur ; John SUCKLING, Auteur ; Andrew J. CALDER, Auteur ; Edward T. BULLMORE, Auteur ; Simon BARON-COHEN, Auteur . - 2012 . - 9 p. Langues : Anglais (eng) in Molecular Autism > (December 2012) . - 9 p. Mots-clés : Autism  Default mode network  Functional MRI  Endophenotype Index. décimale : PER Périodiques Résumé : BACKGROUND:Reduced activity during cognitively demanding tasks has been reported in the default mode network in typically developing controls and individuals with autism. However, no study has investigated the default mode network (DMN) in first-degree relatives of those with autism (such as siblings) and it is not known whether atypical activation of the DMN is specific to autism or whether it is also present in unaffected relatives. Here we use functional magnetic resonance imaging to investigate the pattern of task-related deactivation during completion of a visual search task, the Embedded Figures Task, in teenagers with autism, their unaffected siblings and typically developing controls.FINDINGS:We identified striking reductions in deactivation during the Embedded Figures Task in unaffected siblings compared to controls in brain regions corresponding to the default mode network. Adolescents with autism and their unaffected siblings similarly failed to deactivate regions, including posterior cingulate and bilateral inferior parietal cortex.CONCLUSIONS:This suggests that a failure to deactivate these regions is a functional endophenotype of autism, related to familial risk for the condition shared between individuals with autism and their siblings. En ligne : http://dx.doi.org/10.1186/2040-2392-3-15 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Impressions of Humanness for Android Robot may Represent an Endophenotype for Autism Spectrum Disorders / H. KUMAZAKI in Journal of Autism and Developmental Disorders, 48-2 (February 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.632-634 Titre : Impressions of Humanness for Android Robot may Represent an Endophenotype for Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : H. KUMAZAKI, Auteur ; Zachary WARREN, Auteur ; A. SWANSON, Auteur ; Y. YOSHIKAWA, Auteur ; Y. MATSUMOTO, Auteur ; H. ISHIGURO, Auteur ; N. SARKAR, Auteur ; Y. MINABE, Auteur ; M. KIKUCHI, Auteur Article en page(s) : p.632-634 Langues : Anglais (eng) Mots-clés : Android robot  Autism spectrum disorders  Endophenotype  Heterogeneity  Humanness Index. décimale : PER Périodiques Résumé : Identification of meaningful endophenotypes may be critical to unraveling the etiology and pathophysiology of autism spectrum disorders (ASD). We investigated whether impressions of "humanness" for android robot might represent a candidate characteristic of an ASD endophenotype. We used a female type of android robot with an appearance similar to that of a real person. Significant differences in overall impressions of 'humanness' for android robot were found between adolescents with ASD and typical development (TD) controls, as well as parents of children with ASD and parents of TD controls. Our current work does suggest robotic systems could potentially play an intelligent role in dissecting ASD heterogeneity. En ligne : https://doi.org/10.1007/s10803-017-3365-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=338 [article] Impressions of Humanness for Android Robot may Represent an Endophenotype for Autism Spectrum Disorders [Texte imprimé et/ou numérique] / H. KUMAZAKI, Auteur ; Zachary WARREN, Auteur ; A. SWANSON, Auteur ; Y. YOSHIKAWA, Auteur ; Y. MATSUMOTO, Auteur ; H. ISHIGURO, Auteur ; N. SARKAR, Auteur ; Y. MINABE, Auteur ; M. KIKUCHI, Auteur . - p.632-634. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.632-634 Mots-clés : Android robot  Autism spectrum disorders  Endophenotype  Heterogeneity  Humanness Index. décimale : PER Périodiques Résumé : Identification of meaningful endophenotypes may be critical to unraveling the etiology and pathophysiology of autism spectrum disorders (ASD). We investigated whether impressions of "humanness" for android robot might represent a candidate characteristic of an ASD endophenotype. We used a female type of android robot with an appearance similar to that of a real person. Significant differences in overall impressions of 'humanness' for android robot were found between adolescents with ASD and typical development (TD) controls, as well as parents of children with ASD and parents of TD controls. Our current work does suggest robotic systems could potentially play an intelligent role in dissecting ASD heterogeneity. En ligne : https://doi.org/10.1007/s10803-017-3365-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=338

Infant social attention: an endophenotype of ASD-related traits? / Emily J. H. JONES in Journal of Child Psychology and Psychiatry, 58-3 (March 2017)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 58-3 (March 2017) . - p.270-281 Titre : Infant social attention: an endophenotype of ASD-related traits? Type de document : Texte imprimé et/ou numérique Auteurs : Emily J. H. JONES, Auteur ; Kaitlin VENEMA, Auteur ; Rachel K. EARL, Auteur ; Rachel LOWY, Auteur ; Sara J. WEBB, Auteur Article en page(s) : p.270-281 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  infancy  endophenotype  social attention Index. décimale : PER Périodiques Résumé : Background As a neurodevelopmental disorder, symptoms of ASD likely emerge from a complex interaction between preexisting genetic vulnerabilities and the child's environment. One way to understand causal paths to ASD is to identify dimensional ASD-related traits that vary in the general population and that predispose individuals with other risk factors toward ASD. Moving beyond behavioral traits to explore underlying neurocognitive processes may further constrain the underlying genetics. Endophenotypes are quantitative, heritable, trait-related differences that are generally assessed with laboratory-based methods, can be identified in the general population, and may be more closely tied to particular causal chains that have a more restricted set of genetic roots. The most fruitful endophenotypes may be those observed in infancy, prior to the emergence of behavioral symptoms that they are hypothesized to cause. Social motivation is an ASD-related trait that is highly heritable. In this study, we investigate whether infant endophenotypes of social attention relate to familial risk for lower social motivation in the general population. Methods We examined whether infant social attention (measured using habituation, EEG power, and event-related potential tasks previously used in infants/toddlers with ASD) varies quantitatively with parental social motivation in 117 six-month-old and 106 twelve-month-old typically developing infants assessed cross-sectionally. To assess heritable aspects of social motivation, primary caregiver biological parents completed two self-report measures of social avoidance and discomfort that have shown high heritability in previous work. Results Parents with higher social discomfort and avoidance had infants who showed shorter looks to faces but not objects; reduced theta power during naturalistic social attention; and smaller P400 responses to faces versus objects. Conclusions Early reductions in social attention are continuously related to lower parental social motivation. Alterations in social attention may be infant endophenotypes of social motivation traits related to ASD. En ligne : http://dx.doi.org/10.1111/jcpp.12650 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 [article] Infant social attention: an endophenotype of ASD-related traits? [Texte imprimé et/ou numérique] / Emily J. H. JONES, Auteur ; Kaitlin VENEMA, Auteur ; Rachel K. EARL, Auteur ; Rachel LOWY, Auteur ; Sara J. WEBB, Auteur . - p.270-281. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 58-3 (March 2017) . - p.270-281 Mots-clés : Autism spectrum disorders  infancy  endophenotype  social attention Index. décimale : PER Périodiques Résumé : Background As a neurodevelopmental disorder, symptoms of ASD likely emerge from a complex interaction between preexisting genetic vulnerabilities and the child's environment. One way to understand causal paths to ASD is to identify dimensional ASD-related traits that vary in the general population and that predispose individuals with other risk factors toward ASD. Moving beyond behavioral traits to explore underlying neurocognitive processes may further constrain the underlying genetics. Endophenotypes are quantitative, heritable, trait-related differences that are generally assessed with laboratory-based methods, can be identified in the general population, and may be more closely tied to particular causal chains that have a more restricted set of genetic roots. The most fruitful endophenotypes may be those observed in infancy, prior to the emergence of behavioral symptoms that they are hypothesized to cause. Social motivation is an ASD-related trait that is highly heritable. In this study, we investigate whether infant endophenotypes of social attention relate to familial risk for lower social motivation in the general population. Methods We examined whether infant social attention (measured using habituation, EEG power, and event-related potential tasks previously used in infants/toddlers with ASD) varies quantitatively with parental social motivation in 117 six-month-old and 106 twelve-month-old typically developing infants assessed cross-sectionally. To assess heritable aspects of social motivation, primary caregiver biological parents completed two self-report measures of social avoidance and discomfort that have shown high heritability in previous work. Results Parents with higher social discomfort and avoidance had infants who showed shorter looks to faces but not objects; reduced theta power during naturalistic social attention; and smaller P400 responses to faces versus objects. Conclusions Early reductions in social attention are continuously related to lower parental social motivation. Alterations in social attention may be infant endophenotypes of social motivation traits related to ASD. En ligne : http://dx.doi.org/10.1111/jcpp.12650 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303

Research Review: Do motor deficits during development represent an endophenotype for schizophrenia? A meta-analysis / Birgitte K. BURTON in Journal of Child Psychology and Psychiatry, 57-4 (April 2016)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 57-4 (April 2016) . - p.446-456 Titre : Research Review: Do motor deficits during development represent an endophenotype for schizophrenia? A meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : Birgitte K. BURTON, Auteur ; Carsten HJORTHØJ, Auteur ; Jens Richardt MØLLEGAARD JEPSEN, Auteur ; Anne THORUP, Auteur ; Merete NORDENTOFT, Auteur ; Kerstin J. PLESSEN, Auteur Article en page(s) : p.446-456 Langues : Anglais (eng) Mots-clés : Motor function  endophenotype  early detection  first-degree relatives  schizophrenia Index. décimale : PER Périodiques Résumé : Background Early detection of schizophrenia risk is a critical goal in the field. Endophenotypes in children to relatives of affected individuals may contribute to this early detection. One of the lowest cost and longest theorized domains is motor development in children. Methods A meta-analysis was conducted comparing individuals ?21 years old with affected first-degree relatives (FDR) with (1) individuals from unaffected families (controls), or (2) individuals with FDR having other psychiatric disorders. Studies were classified by motor outcome and separate meta-analyses were performed across six correlated domains, with available N varying by domain. Results Inclusion criteria were met by k = 23 independent studies with a total N = 18,582, and N across domains varying from 167 to 8619. The youth from affected families had delays in gross and fine motor development in infancy (k = 3, n = 167, Hedges'g = 0.644, confidence intervals (CI) = [0.328, 0.960], p < .001), walking milestones (k = 3, n = 608, g = 0.444, CI = [0.108, 0.780], p = .01), coordination (k = 8, n = 8619, g = 0.625, CI = [0.453, 0.797], p < .0001), and had more abnormal movements such as involuntary movements (k = 6, n = 8365, g = 0.291, CI = [0.041, 0.542], p = .02) compared with controls. However, not all effects survived correction for publication bias. Effects for neurological soft signs were small and not reliably different from zero (k = 4, n = 548, g = 0.238, CI = [?0.106, 0.583], p = .18). When comparing the FDR group to youth from families with other psychiatric disorders, the FDR group was distinguished by poorer gross and fine motor skills (k = 2, n = 275, g = 0.847, CI = [0.393, 1.300], p < .001). Conclusions Motor deficits during development likely represent an endophenotype for schizophrenia, although its specificity is limited in relation to other serious mental disorders. It holds promise as a low cost domain for early risk detection, although it will have to be combined with other indicators to achieve clinically usable prediction accuracy. Impaired coordination was the most robust result with a moderate effect size and lack of heterogeneity and publication bias. En ligne : http://dx.doi.org/10.1111/jcpp.12479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=285 [article] Research Review: Do motor deficits during development represent an endophenotype for schizophrenia? A meta-analysis [Texte imprimé et/ou numérique] / Birgitte K. BURTON, Auteur ; Carsten HJORTHØJ, Auteur ; Jens Richardt MØLLEGAARD JEPSEN, Auteur ; Anne THORUP, Auteur ; Merete NORDENTOFT, Auteur ; Kerstin J. PLESSEN, Auteur . - p.446-456. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 57-4 (April 2016) . - p.446-456 Mots-clés : Motor function  endophenotype  early detection  first-degree relatives  schizophrenia Index. décimale : PER Périodiques Résumé : Background Early detection of schizophrenia risk is a critical goal in the field. Endophenotypes in children to relatives of affected individuals may contribute to this early detection. One of the lowest cost and longest theorized domains is motor development in children. Methods A meta-analysis was conducted comparing individuals ?21 years old with affected first-degree relatives (FDR) with (1) individuals from unaffected families (controls), or (2) individuals with FDR having other psychiatric disorders. Studies were classified by motor outcome and separate meta-analyses were performed across six correlated domains, with available N varying by domain. Results Inclusion criteria were met by k = 23 independent studies with a total N = 18,582, and N across domains varying from 167 to 8619. The youth from affected families had delays in gross and fine motor development in infancy (k = 3, n = 167, Hedges'g = 0.644, confidence intervals (CI) = [0.328, 0.960], p < .001), walking milestones (k = 3, n = 608, g = 0.444, CI = [0.108, 0.780], p = .01), coordination (k = 8, n = 8619, g = 0.625, CI = [0.453, 0.797], p < .0001), and had more abnormal movements such as involuntary movements (k = 6, n = 8365, g = 0.291, CI = [0.041, 0.542], p = .02) compared with controls. However, not all effects survived correction for publication bias. Effects for neurological soft signs were small and not reliably different from zero (k = 4, n = 548, g = 0.238, CI = [?0.106, 0.583], p = .18). When comparing the FDR group to youth from families with other psychiatric disorders, the FDR group was distinguished by poorer gross and fine motor skills (k = 2, n = 275, g = 0.847, CI = [0.393, 1.300], p < .001). Conclusions Motor deficits during development likely represent an endophenotype for schizophrenia, although its specificity is limited in relation to other serious mental disorders. It holds promise as a low cost domain for early risk detection, although it will have to be combined with other indicators to achieve clinically usable prediction accuracy. Impaired coordination was the most robust result with a moderate effect size and lack of heterogeneity and publication bias. En ligne : http://dx.doi.org/10.1111/jcpp.12479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=285

Alpha Asymmetry in Infants at Risk for Autism Spectrum Disorders / Laurel GABARD-DURNAM in Journal of Autism and Developmental Disorders, 45-2 (February 2015)  

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Association between family history of suicide attempt and neurocognitive functioning in community youth / Jason D. JONES in Journal of Child Psychology and Psychiatry, 62-1 (January 2021)  

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Broad Autism Phenotype in Typically Developing Children Predicts Performance on an Eye-Tracking Measure of Joint Attention / Meghan R. SWANSON in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

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Differences in Neural Correlates of Speech Perception in 3 Month Olds at High and Low Risk for Autism Spectrum Disorder / Laura A. EDWARDS in Journal of Autism and Developmental Disorders, 47-10 (October 2017)  

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Electrophysiological Endophenotypes and the Error-Related Negativity (ERN) in Autism Spectrum Disorder: A Family Study / Ann CLAWSON in Journal of Autism and Developmental Disorders, 47-5 (May 2017)  

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