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Social endophenotypes in autism spectrum disorder: A scoping review / Gabrielle M. TIEDE in Development and Psychopathology, 33-4 (October 2021)
[article]
Titre : Social endophenotypes in autism spectrum disorder: A scoping review Type de document : Texte imprimé et/ou numérique Auteurs : Gabrielle M. TIEDE, Auteur ; Katherine M. WALTON, Auteur Article en page(s) : p.1381-1409 Langues : Anglais (eng) Mots-clés : autism early detection endophenotypes Index. décimale : PER Périodiques Résumé : Endophenotypes are measurable markers of genetic vulnerability to current or future disorder. Autism spectrum disorder (ASD) is well-suited to be examined within an endophenotype framework given past and current emphases on the broader autism phenotype and early detection. We conducted a scoping review to identify potential socially-related endophenotypes of ASD. We focused on paradigms related to sociality (e.g., theory of mind (TOM), social attention), which comprise most of this literature. We integrated findings from traditional behavioral paradigms with brain-based measures (e.g., electroencephalography, functional magnetic resonance imaging). Broadly, infant research regarding social attention and responsivity (Research Domain Criteria (RDoC) domain of affiliation) and attention to faces and voices (social communication) finds consistent abnormality in vulnerable infant siblings. Several additional paradigms that have shown differences in vulnerable infants and young children include animacy perception tasks (perception and understanding of others), measures of recognition and response to familiar faces (attachment), and joint attention and false-belief tasks (understanding mental states). Research areas such as alexithymia (the perception and understanding of self), empathic responding, and vocal prosody may hold interest; however, challenges in measurement across populations and age ranges is a limiting factor. Future work should address sex differences and age dependencies, specificity to ASD, and heterogeneous genetic pathways to disorder within samples individuals with ASD and relatives. En ligne : http://dx.doi.org/10.1017/S0954579420000577 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=457
in Development and Psychopathology > 33-4 (October 2021) . - p.1381-1409[article] Social endophenotypes in autism spectrum disorder: A scoping review [Texte imprimé et/ou numérique] / Gabrielle M. TIEDE, Auteur ; Katherine M. WALTON, Auteur . - p.1381-1409.
Langues : Anglais (eng)
in Development and Psychopathology > 33-4 (October 2021) . - p.1381-1409
Mots-clés : autism early detection endophenotypes Index. décimale : PER Périodiques Résumé : Endophenotypes are measurable markers of genetic vulnerability to current or future disorder. Autism spectrum disorder (ASD) is well-suited to be examined within an endophenotype framework given past and current emphases on the broader autism phenotype and early detection. We conducted a scoping review to identify potential socially-related endophenotypes of ASD. We focused on paradigms related to sociality (e.g., theory of mind (TOM), social attention), which comprise most of this literature. We integrated findings from traditional behavioral paradigms with brain-based measures (e.g., electroencephalography, functional magnetic resonance imaging). Broadly, infant research regarding social attention and responsivity (Research Domain Criteria (RDoC) domain of affiliation) and attention to faces and voices (social communication) finds consistent abnormality in vulnerable infant siblings. Several additional paradigms that have shown differences in vulnerable infants and young children include animacy perception tasks (perception and understanding of others), measures of recognition and response to familiar faces (attachment), and joint attention and false-belief tasks (understanding mental states). Research areas such as alexithymia (the perception and understanding of self), empathic responding, and vocal prosody may hold interest; however, challenges in measurement across populations and age ranges is a limiting factor. Future work should address sex differences and age dependencies, specificity to ASD, and heterogeneous genetic pathways to disorder within samples individuals with ASD and relatives. En ligne : http://dx.doi.org/10.1017/S0954579420000577 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=457 Brief Report: Neuroimaging Endophenotypes of Social Robotic Applications in Autism Spectrum Disorder / A. CERASA in Journal of Autism and Developmental Disorders, 51-7 (July 2021)
[article]
Titre : Brief Report: Neuroimaging Endophenotypes of Social Robotic Applications in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. CERASA, Auteur ; L. RUTA, Auteur ; F. MARINO, Auteur ; G. BIAMONTI, Auteur ; G. PIOGGIA, Auteur Article en page(s) : p.2538-2542 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics/therapy Autistic Disorder Child Creativity Endophenotypes Humans Male Neuroimaging Research Report Robotics/methods Autism spectrum disorder Neuroendophenotype Social robot Index. décimale : PER Périodiques Résumé : A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to strengthen the current treatments in children with autism. However, the high clinical heterogeneity characterizing this disorder might interfere with behavioral effects. Neuroimaging is set to overcome these limitations by capturing the level of heterogeneity. Here, we provide a preliminary evaluation of the neural basis of social robotics and how extracting neural hallmarks useful to design more effective behavioral applications. Despite the endophenotype-oriented neuroimaging research approach is in its relative infancy, this preliminary evidence encourages innovation to address its current limitations. En ligne : http://dx.doi.org/10.1007/s10803-020-04708-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Journal of Autism and Developmental Disorders > 51-7 (July 2021) . - p.2538-2542[article] Brief Report: Neuroimaging Endophenotypes of Social Robotic Applications in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / A. CERASA, Auteur ; L. RUTA, Auteur ; F. MARINO, Auteur ; G. BIAMONTI, Auteur ; G. PIOGGIA, Auteur . - p.2538-2542.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-7 (July 2021) . - p.2538-2542
Mots-clés : Autism Spectrum Disorder/genetics/therapy Autistic Disorder Child Creativity Endophenotypes Humans Male Neuroimaging Research Report Robotics/methods Autism spectrum disorder Neuroendophenotype Social robot Index. décimale : PER Périodiques Résumé : A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to strengthen the current treatments in children with autism. However, the high clinical heterogeneity characterizing this disorder might interfere with behavioral effects. Neuroimaging is set to overcome these limitations by capturing the level of heterogeneity. Here, we provide a preliminary evaluation of the neural basis of social robotics and how extracting neural hallmarks useful to design more effective behavioral applications. Despite the endophenotype-oriented neuroimaging research approach is in its relative infancy, this preliminary evidence encourages innovation to address its current limitations. En ligne : http://dx.doi.org/10.1007/s10803-020-04708-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 Genetics of preparation and response control in ADHD: the role of DRD4 and DAT1 / Björn ALBRECHT in Journal of Child Psychology and Psychiatry, 55-8 (August 2014)
[article]
Titre : Genetics of preparation and response control in ADHD: the role of DRD4 and DAT1 Type de document : Texte imprimé et/ou numérique Auteurs : Björn ALBRECHT, Auteur ; Daniel BRANDEIS, Auteur ; Henrik Uebel VON SANDERSLEBEN, Auteur ; Lilian VALKO, Auteur ; Hartmut HEINRICH, Auteur ; Xiaohui XU, Auteur ; Renate DRECHSLER, Auteur ; Alexander HEISE, Auteur ; Jonna KUNTSI, Auteur ; Ueli C. MÜLLER, Auteur ; Philip ASHERSON, Auteur ; Hans-Christoph STEINHAUSEN, Auteur ; Aribert ROTHENBERGER, Auteur ; Tobias BANASCHEWSKI, Auteur Article en page(s) : p.914-923 Langues : Anglais (eng) Mots-clés : Attention deficit hyperactivity disorder ERP endophenotypes CPT CNV Nogo P3 Index. décimale : PER Périodiques Résumé : Background Difficulties with performance and brain activity related to attentional orienting (Cue-P3), cognitive or response preparation (Cue-CNV) and inhibitory response control (Nogo-P3) during tasks tapping executive functions are familial in ADHD and may represent endophenotypes. The aim of this study was to clarify the impact of dopamine receptor D4 (DRD4) and dopamine transporter (DAT1) gene polymorphisms on these processes in ADHD and control children. Methods Behavioural and electrophysiological parameters from cued continuous performance tests with low and high attentional load were assessed in boys with ADHD combined type (N = 94) and controls without family history of ADHD (N = 31). Both groups were split for the presence of at least one DRD4 7-repeat allele and the DAT1 10-6 haplotype. Results Children with ADHD showed diminished performance and lower Cue-P3, CNV and Nogo-P3 amplitudes. Children with DRD4 7R showed similar performance problems and lower Cue-P3 and CNV, but Nogo-P3 was not reduced. Children with the DAT1 10-6 haplotype had no difficulties with performance or Cue-P3 and CNV, but contrary to expectations increased Nogo-P3. There were no Genotype by ADHD interactions. Conclusions This study detected specific effects of DRD4 7R on performance and brain activity related to attentional orienting and response preparation, while DAT1 10-6 was associated with elevated brain activity related to inhibitory response control, which potentially compensates increased impulsivity. As these genotype effects were additive to the impact of ADHD, the current results indicate that DRD4 and DAT1 polymorphisms are functionally relevant risk factors for ADHD and presumably other disorders sharing these endophenotypes. En ligne : http://dx.doi.org/10.1111/jcpp.12212 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=237
in Journal of Child Psychology and Psychiatry > 55-8 (August 2014) . - p.914-923[article] Genetics of preparation and response control in ADHD: the role of DRD4 and DAT1 [Texte imprimé et/ou numérique] / Björn ALBRECHT, Auteur ; Daniel BRANDEIS, Auteur ; Henrik Uebel VON SANDERSLEBEN, Auteur ; Lilian VALKO, Auteur ; Hartmut HEINRICH, Auteur ; Xiaohui XU, Auteur ; Renate DRECHSLER, Auteur ; Alexander HEISE, Auteur ; Jonna KUNTSI, Auteur ; Ueli C. MÜLLER, Auteur ; Philip ASHERSON, Auteur ; Hans-Christoph STEINHAUSEN, Auteur ; Aribert ROTHENBERGER, Auteur ; Tobias BANASCHEWSKI, Auteur . - p.914-923.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 55-8 (August 2014) . - p.914-923
Mots-clés : Attention deficit hyperactivity disorder ERP endophenotypes CPT CNV Nogo P3 Index. décimale : PER Périodiques Résumé : Background Difficulties with performance and brain activity related to attentional orienting (Cue-P3), cognitive or response preparation (Cue-CNV) and inhibitory response control (Nogo-P3) during tasks tapping executive functions are familial in ADHD and may represent endophenotypes. The aim of this study was to clarify the impact of dopamine receptor D4 (DRD4) and dopamine transporter (DAT1) gene polymorphisms on these processes in ADHD and control children. Methods Behavioural and electrophysiological parameters from cued continuous performance tests with low and high attentional load were assessed in boys with ADHD combined type (N = 94) and controls without family history of ADHD (N = 31). Both groups were split for the presence of at least one DRD4 7-repeat allele and the DAT1 10-6 haplotype. Results Children with ADHD showed diminished performance and lower Cue-P3, CNV and Nogo-P3 amplitudes. Children with DRD4 7R showed similar performance problems and lower Cue-P3 and CNV, but Nogo-P3 was not reduced. Children with the DAT1 10-6 haplotype had no difficulties with performance or Cue-P3 and CNV, but contrary to expectations increased Nogo-P3. There were no Genotype by ADHD interactions. Conclusions This study detected specific effects of DRD4 7R on performance and brain activity related to attentional orienting and response preparation, while DAT1 10-6 was associated with elevated brain activity related to inhibitory response control, which potentially compensates increased impulsivity. As these genotype effects were additive to the impact of ADHD, the current results indicate that DRD4 and DAT1 polymorphisms are functionally relevant risk factors for ADHD and presumably other disorders sharing these endophenotypes. En ligne : http://dx.doi.org/10.1111/jcpp.12212 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=237 Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD / Anna GUI in Development and Psychopathology, 32-4 (October 2020)
[article]
Titre : Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD Type de document : Texte imprimé et/ou numérique Auteurs : Anna GUI, Auteur ; Luke MASON, Auteur ; Teodora GLIGA, Auteur ; Alexandra HENDRY, Auteur ; Jannath BEGUM ALI, Auteur ; Greg PASCO, Auteur ; Elizabeth SHEPHARD, Auteur ; Charles CURTIS, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Emma MEABURN, Auteur ; Emily J. H. JONES, Auteur Article en page(s) : p.1303-1322 Langues : Anglais (eng) Mots-clés : attention endophenotypes eye-tracking infant siblings polygenic score Index. décimale : PER Périodiques Résumé : Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (? = 0.078, p = .023), but not ASD (? = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, $\eta _p^2$=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation. En ligne : http://dx.doi.org/10.1017/s0954579420000930 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433
in Development and Psychopathology > 32-4 (October 2020) . - p.1303-1322[article] Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD [Texte imprimé et/ou numérique] / Anna GUI, Auteur ; Luke MASON, Auteur ; Teodora GLIGA, Auteur ; Alexandra HENDRY, Auteur ; Jannath BEGUM ALI, Auteur ; Greg PASCO, Auteur ; Elizabeth SHEPHARD, Auteur ; Charles CURTIS, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Emma MEABURN, Auteur ; Emily J. H. JONES, Auteur . - p.1303-1322.
Langues : Anglais (eng)
in Development and Psychopathology > 32-4 (October 2020) . - p.1303-1322
Mots-clés : attention endophenotypes eye-tracking infant siblings polygenic score Index. décimale : PER Périodiques Résumé : Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (? = 0.078, p = .023), but not ASD (? = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, $\eta _p^2$=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation. En ligne : http://dx.doi.org/10.1017/s0954579420000930 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development / E. RUBENSTEIN in Autism, 23-2 (February 2019)
[article]
Titre : Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development Type de document : Texte imprimé et/ou numérique Auteurs : E. RUBENSTEIN, Auteur ; Lisa D. WIGGINS, Auteur ; Laura A. SCHIEVE, Auteur ; C. BRADLEY, Auteur ; Carolyn G. DIGUISEPPI, Auteur ; E. MOODY, Auteur ; J. PANDEY, Auteur ; R. E. PRETZEL, Auteur ; A. G. HOWARD, Auteur ; A. F. OLSHAN, Auteur ; B. W. PENCE, Auteur ; J. DANIELS, Auteur Article en page(s) : p.436-448 Langues : Anglais (eng) Mots-clés : autism spectrum disorder broader autism phenotype endophenotypes subgrouping Index. décimale : PER Périodiques Résumé : The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype-a set of sub-clinical characteristics of autism spectrum disorder-on child autism spectrum disorder phenotypes may help reduce heterogeneity in potential genetic predisposition for autism spectrum disorder. We assessed the associations between parental broader autism phenotype and child phenotype among children of age 30-68 months enrolled in the Study to Explore Early Development (N = 707). Child autism spectrum disorder phenotype was defined by a replication of latent classes derived from multiple developmental and behavioral measures: Mild Language Delay with Cognitive Rigidity, Mild Language and Motor Delay with Dysregulation (e.g. anxiety/depression), General Developmental Delay, and Significant Developmental Delay with Repetitive Motor Behaviors. Scores on the Social Responsiveness Scale-Adult measured parent broader autism phenotype. Broader autism phenotype in at least one parent was associated with a child having increased odds of being classified as mild language and motor delay with dysregulation compared to significant developmental delay with repetitive motor behaviors (odds ratio: 2.44; 95% confidence interval: 1.16, 5.09). Children of parents with broader autism phenotype were more likely to have a phenotype qualitatively similar to broader autism phenotype presentation; this may have implications for etiologic research. En ligne : http://dx.doi.org/10.1177/1362361317753563 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=383
in Autism > 23-2 (February 2019) . - p.436-448[article] Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development [Texte imprimé et/ou numérique] / E. RUBENSTEIN, Auteur ; Lisa D. WIGGINS, Auteur ; Laura A. SCHIEVE, Auteur ; C. BRADLEY, Auteur ; Carolyn G. DIGUISEPPI, Auteur ; E. MOODY, Auteur ; J. PANDEY, Auteur ; R. E. PRETZEL, Auteur ; A. G. HOWARD, Auteur ; A. F. OLSHAN, Auteur ; B. W. PENCE, Auteur ; J. DANIELS, Auteur . - p.436-448.
Langues : Anglais (eng)
in Autism > 23-2 (February 2019) . - p.436-448
Mots-clés : autism spectrum disorder broader autism phenotype endophenotypes subgrouping Index. décimale : PER Périodiques Résumé : The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype-a set of sub-clinical characteristics of autism spectrum disorder-on child autism spectrum disorder phenotypes may help reduce heterogeneity in potential genetic predisposition for autism spectrum disorder. We assessed the associations between parental broader autism phenotype and child phenotype among children of age 30-68 months enrolled in the Study to Explore Early Development (N = 707). Child autism spectrum disorder phenotype was defined by a replication of latent classes derived from multiple developmental and behavioral measures: Mild Language Delay with Cognitive Rigidity, Mild Language and Motor Delay with Dysregulation (e.g. anxiety/depression), General Developmental Delay, and Significant Developmental Delay with Repetitive Motor Behaviors. Scores on the Social Responsiveness Scale-Adult measured parent broader autism phenotype. Broader autism phenotype in at least one parent was associated with a child having increased odds of being classified as mild language and motor delay with dysregulation compared to significant developmental delay with repetitive motor behaviors (odds ratio: 2.44; 95% confidence interval: 1.16, 5.09). Children of parents with broader autism phenotype were more likely to have a phenotype qualitatively similar to broader autism phenotype presentation; this may have implications for etiologic research. En ligne : http://dx.doi.org/10.1177/1362361317753563 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=383 Eye Movements and Behavioural Responses to Gaze-Contingent Expressive Faces in Typically Developing Infants and Infant Siblings / Jolie R. KEEMINK in Autism Research, 14-5 (May 2021)
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