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Faire une suggestionComparison of evoked potentials across four related developmental encephalopathies / Joni N. SABY in Journal of Neurodevelopmental Disorders, 15 (2023)
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Titre : Comparison of evoked potentials across four related developmental encephalopathies Type de document : texte imprimé Auteurs : Joni N. SABY, Auteur ; Sarika U. PETERS, Auteur ; Timothy A. BENKE, Auteur ; Shannon M. STANDRIDGE, Auteur ; Lindsay C. SWANSON, Auteur ; David N. LIEBERMAN, Auteur ; Heather E. OLSON, Auteur ; Alexandra P. KEY, Auteur ; Alan K. PERCY, Auteur ; Jeffrey L. NEUL, Auteur ; Charles A. NELSON, Auteur ; Timothy P.L. ROBERTS, Auteur ; Eric D. MARSH, Auteur Langues : Anglais (eng) Mots-clés : Epileptic Syndromes Rett Syndrome X-Linked Intellectual Disability Child Humans Spasms, Infantile Evoked Potentials Evoked Potentials, Visual Index. décimale : PER Périodiques Résumé : BACKGROUND: Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related developmental encephalopathies, MECP2 duplication syndrome and FOXG1 syndrome, and compare across all four groups to better understand the potential of these measures to serve as biomarkers of clinical severity for the developmental encephalopathies. METHODS: Visual and auditory evoked potentials were acquired from participants with MECP2 duplication syndrome and FOXG1 syndrome across five sites of the Rett Syndrome and Rett-Related Disorders Natural History Study. A group of age-matched individuals (mean = 7.8 years; range = 1-17) with Rett syndrome, CDKL5 deficiency disorder, and typically-developing participants served as a comparison group. The analysis focused on group-level differences as well as associations between the evoked potentials and measures of clinical severity from the Natural History Study. RESULTS: As reported previously, group-level comparisons revealed attenuated visual evoked potentials (VEPs) in participants with Rett syndrome (n = 43) and CDKL5 deficiency disorder (n = 16) compared to typically-developing participants. VEP amplitude was also attenuated in participants with MECP2 duplication syndrome (n = 15) compared to the typically-developing group. VEP amplitude correlated with clinical severity for Rett syndrome and FOXG1 syndrome (n = 5). Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 deficiency disorder (n = 14). AEP amplitude correlated with severity in Rett syndrome and CDKL5 deficiency disorder. AEP latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome. CONCLUSIONS: There are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09479-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575
in Journal of Neurodevelopmental Disorders > 15 (2023)[article] Comparison of evoked potentials across four related developmental encephalopathies [texte imprimé] / Joni N. SABY, Auteur ; Sarika U. PETERS, Auteur ; Timothy A. BENKE, Auteur ; Shannon M. STANDRIDGE, Auteur ; Lindsay C. SWANSON, Auteur ; David N. LIEBERMAN, Auteur ; Heather E. OLSON, Auteur ; Alexandra P. KEY, Auteur ; Alan K. PERCY, Auteur ; Jeffrey L. NEUL, Auteur ; Charles A. NELSON, Auteur ; Timothy P.L. ROBERTS, Auteur ; Eric D. MARSH, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 15 (2023)
Mots-clés : Epileptic Syndromes Rett Syndrome X-Linked Intellectual Disability Child Humans Spasms, Infantile Evoked Potentials Evoked Potentials, Visual Index. décimale : PER Périodiques Résumé : BACKGROUND: Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related developmental encephalopathies, MECP2 duplication syndrome and FOXG1 syndrome, and compare across all four groups to better understand the potential of these measures to serve as biomarkers of clinical severity for the developmental encephalopathies. METHODS: Visual and auditory evoked potentials were acquired from participants with MECP2 duplication syndrome and FOXG1 syndrome across five sites of the Rett Syndrome and Rett-Related Disorders Natural History Study. A group of age-matched individuals (mean = 7.8 years; range = 1-17) with Rett syndrome, CDKL5 deficiency disorder, and typically-developing participants served as a comparison group. The analysis focused on group-level differences as well as associations between the evoked potentials and measures of clinical severity from the Natural History Study. RESULTS: As reported previously, group-level comparisons revealed attenuated visual evoked potentials (VEPs) in participants with Rett syndrome (n = 43) and CDKL5 deficiency disorder (n = 16) compared to typically-developing participants. VEP amplitude was also attenuated in participants with MECP2 duplication syndrome (n = 15) compared to the typically-developing group. VEP amplitude correlated with clinical severity for Rett syndrome and FOXG1 syndrome (n = 5). Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 deficiency disorder (n = 14). AEP amplitude correlated with severity in Rett syndrome and CDKL5 deficiency disorder. AEP latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome. CONCLUSIONS: There are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09479-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism / Shlomit BEKER in Journal of Neurodevelopmental Disorders, 13 (2021)
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Titre : Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism Type de document : texte imprimé Auteurs : Shlomit BEKER, Auteur ; John J. FOXE, Auteur ; John VENTICINQUE, Auteur ; Juliana BATES, Auteur ; Elizabeth M. RIDGEWAY, Auteur ; Roseann C. SCHAAF, Auteur ; Sophie MOLHOLM, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis Autistic Disorder Child Evoked Potentials Evoked Potentials, Visual Humans Infant Reproducibility of Results Asd Biomarkers Eeg Erp Icc Inter-trial variability Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are associated with altered sensory processing and perception. Scalp recordings of electrical brain activity time-locked to sensory events (event-related potentials; ERPs) provide precise information on the time-course of related altered neural activity, and can be used to model the cortical loci of the underlying neural networks. Establishing the test-retest reliability of these sensory brain responses in ASD is critical to their use as biomarkers of neural dysfunction in this population. METHODS: EEG and behavioral data were acquired from 33 children diagnosed with ASD aged 6-9.4 years old, while they performed a child-friendly task at two different time-points, separated by an average of 5.2 months. In two blocked conditions, participants responded to the occurrence of an auditory target that was either preceded or not by repeating visual stimuli. Intraclass correlation coefficients (ICCs) were used to assess test-retest reliability of measures of sensory (auditory and visual) ERPs and performance, for the two experimental conditions. To assess the degree of reliability of the variability of responses within individuals, this analysis was performed on the variance of the measurements, in addition to their means. This yielded a total of 24 measures for which ICCs were calculated. RESULTS: The data yielded significant good ICC values for 10 of the 24 measurements. These spanned across behavioral and ERPs data, experimental conditions, and mean as well as variance measures. Measures of the visual evoked responses accounted for a disproportionately large number of the significant ICCs; follow-up analyses suggested that the contribution of a greater number of trials to the visual compared to the auditory ERP partially accounted for this. CONCLUSIONS: This analysis reveals that sensory ERPs and related behavior can be highly reliable across multiple measurement time-points in ASD. The data further suggest that the inter-trial and inter-participant variability reported in the ASD literature likely represents replicable individual participant neural processing differences. The stability of these neuronal readouts supports their use as biomarkers in clinical and translational studies on ASD. Given the minimum interval between test/retest sessions across our cohort, we also conclude that for the tested age-range of ~ 6 to 9.4 years, these reliability measures are valid for at least a 3-month interval. Limitations related to EEG task demands and study length in the context of a clinical trial are considered. En ligne : https://dx.doi.org/10.1186/s11689-021-09383-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574
in Journal of Neurodevelopmental Disorders > 13 (2021)[article] Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism [texte imprimé] / Shlomit BEKER, Auteur ; John J. FOXE, Auteur ; John VENTICINQUE, Auteur ; Juliana BATES, Auteur ; Elizabeth M. RIDGEWAY, Auteur ; Roseann C. SCHAAF, Auteur ; Sophie MOLHOLM, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 13 (2021)
Mots-clés : Autism Spectrum Disorder/diagnosis Autistic Disorder Child Evoked Potentials Evoked Potentials, Visual Humans Infant Reproducibility of Results Asd Biomarkers Eeg Erp Icc Inter-trial variability Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are associated with altered sensory processing and perception. Scalp recordings of electrical brain activity time-locked to sensory events (event-related potentials; ERPs) provide precise information on the time-course of related altered neural activity, and can be used to model the cortical loci of the underlying neural networks. Establishing the test-retest reliability of these sensory brain responses in ASD is critical to their use as biomarkers of neural dysfunction in this population. METHODS: EEG and behavioral data were acquired from 33 children diagnosed with ASD aged 6-9.4 years old, while they performed a child-friendly task at two different time-points, separated by an average of 5.2 months. In two blocked conditions, participants responded to the occurrence of an auditory target that was either preceded or not by repeating visual stimuli. Intraclass correlation coefficients (ICCs) were used to assess test-retest reliability of measures of sensory (auditory and visual) ERPs and performance, for the two experimental conditions. To assess the degree of reliability of the variability of responses within individuals, this analysis was performed on the variance of the measurements, in addition to their means. This yielded a total of 24 measures for which ICCs were calculated. RESULTS: The data yielded significant good ICC values for 10 of the 24 measurements. These spanned across behavioral and ERPs data, experimental conditions, and mean as well as variance measures. Measures of the visual evoked responses accounted for a disproportionately large number of the significant ICCs; follow-up analyses suggested that the contribution of a greater number of trials to the visual compared to the auditory ERP partially accounted for this. CONCLUSIONS: This analysis reveals that sensory ERPs and related behavior can be highly reliable across multiple measurement time-points in ASD. The data further suggest that the inter-trial and inter-participant variability reported in the ASD literature likely represents replicable individual participant neural processing differences. The stability of these neuronal readouts supports their use as biomarkers in clinical and translational studies on ASD. Given the minimum interval between test/retest sessions across our cohort, we also conclude that for the tested age-range of ~ 6 to 9.4 years, these reliability measures are valid for at least a 3-month interval. Limitations related to EEG task demands and study length in the context of a clinical trial are considered. En ligne : https://dx.doi.org/10.1186/s11689-021-09383-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 Click-evoked auditory brainstem responses and autism spectrum disorder: A meta-analytic review / Nicole M. TALGE in Autism Research, 11-6 (June 2018)
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Titre : Click-evoked auditory brainstem responses and autism spectrum disorder: A meta-analytic review Type de document : texte imprimé Auteurs : Nicole M. TALGE, Auteur ; Brooke M. TUDOR, Auteur ; Paul R. KILENY, Auteur Article en page(s) : p.916-927 Langues : Anglais (eng) Mots-clés : auditory autism spectrum disorder brain stem evoked potentials Index. décimale : PER Périodiques Résumé : Behavior does not differentiate ASD risk prior to 12 months of age, but biomarkers may inform risk before symptoms emerge. Click-evoked auditory brainstem responses (ABRs) may be worth consideration due to their measurement properties (noninvasiveness; reliability) and conceptual features (well-characterized neural generators), but participant characteristics and assessment protocols vary considerably across studies. Our goal is to perform a meta-analysis of the association between ABRs and ASD. Following an electronic database search (PubMed, Medline, PsycInfo, PsycArticles), we included papers that were written in English, included ASD and typically-developing (TD) groups, and reported the information needed to calculate standardized mean differences (Hedges's g) for at least one ABR latency component (I, III, V, I-III, III-V, I-V). We weighted and averaged effect sizes across conditions and subsets of participants to yield one estimate per component per study. We then performed random-effects regressions to generate component-specific estimates. ASD was associated with longer ABR latencies for Waves III (g = 0.5, 95% CI 0.1, 0.9), V (g = 0.7, 95% CI 0.3, 1.1), I-III (g = 0.7, 95% CI 0.2, 1.2), and I-V (g = 0.6, 95% CI 0.2, 1.0). All components showed significant heterogeneity. Associations were strongest among participants =8 years of age and those without middle ear abnormalities or elevated auditory thresholds. In sum, associations between ABRs and ASD are medium-to-large in size, but exhibit heterogeneity. Identifying sources of heterogeneity is challenging, however, due to power limitations and co-occurrence of sample/design characteristics across studies. Research addressing the above limitations is crucial to determining the etiologic and/or prognostic value of ABRs for ASD. Autism Res 2018, 11: 916-927. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Auditory brainstem responses (ABR) may be associated with ASD, but participant characteristics and assessment protocols vary considerably across individual studies. Our goal is to combine the results across these studies to facilitate clarity on the topic. Doing so represents a first step in evaluating whether ABRs yield potential for informing the etiology of ASD risk and/or ASD symptom profiles. En ligne : http://dx.doi.org/10.1002/aur.1946 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=366
in Autism Research > 11-6 (June 2018) . - p.916-927[article] Click-evoked auditory brainstem responses and autism spectrum disorder: A meta-analytic review [texte imprimé] / Nicole M. TALGE, Auteur ; Brooke M. TUDOR, Auteur ; Paul R. KILENY, Auteur . - p.916-927.
Langues : Anglais (eng)
in Autism Research > 11-6 (June 2018) . - p.916-927
Mots-clés : auditory autism spectrum disorder brain stem evoked potentials Index. décimale : PER Périodiques Résumé : Behavior does not differentiate ASD risk prior to 12 months of age, but biomarkers may inform risk before symptoms emerge. Click-evoked auditory brainstem responses (ABRs) may be worth consideration due to their measurement properties (noninvasiveness; reliability) and conceptual features (well-characterized neural generators), but participant characteristics and assessment protocols vary considerably across studies. Our goal is to perform a meta-analysis of the association between ABRs and ASD. Following an electronic database search (PubMed, Medline, PsycInfo, PsycArticles), we included papers that were written in English, included ASD and typically-developing (TD) groups, and reported the information needed to calculate standardized mean differences (Hedges's g) for at least one ABR latency component (I, III, V, I-III, III-V, I-V). We weighted and averaged effect sizes across conditions and subsets of participants to yield one estimate per component per study. We then performed random-effects regressions to generate component-specific estimates. ASD was associated with longer ABR latencies for Waves III (g = 0.5, 95% CI 0.1, 0.9), V (g = 0.7, 95% CI 0.3, 1.1), I-III (g = 0.7, 95% CI 0.2, 1.2), and I-V (g = 0.6, 95% CI 0.2, 1.0). All components showed significant heterogeneity. Associations were strongest among participants =8 years of age and those without middle ear abnormalities or elevated auditory thresholds. In sum, associations between ABRs and ASD are medium-to-large in size, but exhibit heterogeneity. Identifying sources of heterogeneity is challenging, however, due to power limitations and co-occurrence of sample/design characteristics across studies. Research addressing the above limitations is crucial to determining the etiologic and/or prognostic value of ABRs for ASD. Autism Res 2018, 11: 916-927. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Auditory brainstem responses (ABR) may be associated with ASD, but participant characteristics and assessment protocols vary considerably across individual studies. Our goal is to combine the results across these studies to facilitate clarity on the topic. Doing so represents a first step in evaluating whether ABRs yield potential for informing the etiology of ASD risk and/or ASD symptom profiles. En ligne : http://dx.doi.org/10.1002/aur.1946 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=366 Closing the species gap: Translational approaches to studying sensory processing differences relevant for autism spectrum disorder / Kaela E. SCOTT in Autism Research, 14-7 (July 2021)
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Titre : Closing the species gap: Translational approaches to studying sensory processing differences relevant for autism spectrum disorder Type de document : texte imprimé Auteurs : Kaela E. SCOTT, Auteur ; Samantha E. SCHULZ, Auteur ; Dorit MOEHRLE, Auteur ; Brian L. ALLMAN, Auteur ; Janis ORAM CARDY, Auteur ; Ryan A. STEVENSON, Auteur ; Susanne SCHMID, Auteur Article en page(s) : p.1322-1331 Langues : Anglais (eng) Mots-clés : Animals Autism Spectrum Disorder Cognition Evoked Potentials Humans Mice Perception Sensation auditory processing experimental design framework sensory phenotypes species translation Index. décimale : PER Périodiques Résumé : The study of sensory phenotypes has great potential for increasing research translation between species, a necessity to decipher the neural mechanisms that contribute to higher-order differences in neurological conditions such as autism spectrum disorder (ASD). Over the past decade, despite separate advances in our understanding of the structural and functional differences within the brain of autistic and non-autistic individuals and in rodent models for ASD, researchers have had difficulty translating the findings in murine species to humans, mostly due to incompatibility in experimental methodologies used to screen for ASD phenotypes. Focusing on sensory phenotypes offers an avenue to close the species gap because sensory pathways are highly conserved across species and are affected by the same risk-factors as the higher-order brain areas mostly responsible for the diagnostic criteria for ASD. By first reviewing how sensory processing has been studied to date, we direct our focus to electrophysiological and behavioral techniques that can be used to study sensory phenotypes consistently across species. Using auditory sensory phenotypes as a template, we seek to improve the accessibility of translational methods by providing a framework for collecting cohesive data in both rodents and humans. Specifically, evoked-potentials, acoustic startle paradigms, and psychophysical detection/discrimination paradigms can be created and implemented in a coordinated and systematic fashion across species. Through careful protocol design and collaboration, sensory processing phenotypes can be harnessed to bridge the gap that exists between preclinical animal studies and human testing, so that mutually held questions in autism research can be answered. LAY SUMMARY: It has always been difficult to relate results from animal research to humans. We try to close this gap by studying changes in sensory processing using careful protocol design and collaboration between clinicians and researchers. Sensory pathways are comparable between animals and humans, and are affected in the same way as the rest of the brain in ASD. Using changes in hearing as a template, we point the field in an innovative direction by providing a framework for collecting cohesive data in rodents and humans. En ligne : http://dx.doi.org/10.1002/aur.2533 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449
in Autism Research > 14-7 (July 2021) . - p.1322-1331[article] Closing the species gap: Translational approaches to studying sensory processing differences relevant for autism spectrum disorder [texte imprimé] / Kaela E. SCOTT, Auteur ; Samantha E. SCHULZ, Auteur ; Dorit MOEHRLE, Auteur ; Brian L. ALLMAN, Auteur ; Janis ORAM CARDY, Auteur ; Ryan A. STEVENSON, Auteur ; Susanne SCHMID, Auteur . - p.1322-1331.
Langues : Anglais (eng)
in Autism Research > 14-7 (July 2021) . - p.1322-1331
Mots-clés : Animals Autism Spectrum Disorder Cognition Evoked Potentials Humans Mice Perception Sensation auditory processing experimental design framework sensory phenotypes species translation Index. décimale : PER Périodiques Résumé : The study of sensory phenotypes has great potential for increasing research translation between species, a necessity to decipher the neural mechanisms that contribute to higher-order differences in neurological conditions such as autism spectrum disorder (ASD). Over the past decade, despite separate advances in our understanding of the structural and functional differences within the brain of autistic and non-autistic individuals and in rodent models for ASD, researchers have had difficulty translating the findings in murine species to humans, mostly due to incompatibility in experimental methodologies used to screen for ASD phenotypes. Focusing on sensory phenotypes offers an avenue to close the species gap because sensory pathways are highly conserved across species and are affected by the same risk-factors as the higher-order brain areas mostly responsible for the diagnostic criteria for ASD. By first reviewing how sensory processing has been studied to date, we direct our focus to electrophysiological and behavioral techniques that can be used to study sensory phenotypes consistently across species. Using auditory sensory phenotypes as a template, we seek to improve the accessibility of translational methods by providing a framework for collecting cohesive data in both rodents and humans. Specifically, evoked-potentials, acoustic startle paradigms, and psychophysical detection/discrimination paradigms can be created and implemented in a coordinated and systematic fashion across species. Through careful protocol design and collaboration, sensory processing phenotypes can be harnessed to bridge the gap that exists between preclinical animal studies and human testing, so that mutually held questions in autism research can be answered. LAY SUMMARY: It has always been difficult to relate results from animal research to humans. We try to close this gap by studying changes in sensory processing using careful protocol design and collaboration between clinicians and researchers. Sensory pathways are comparable between animals and humans, and are affected in the same way as the rest of the brain in ASD. Using changes in hearing as a template, we point the field in an innovative direction by providing a framework for collecting cohesive data in rodents and humans. En ligne : http://dx.doi.org/10.1002/aur.2533 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis / Ana A. FRANCISCO in Journal of Neurodevelopmental Disorders, 15 (2023)
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Titre : Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis Type de document : texte imprimé Auteurs : Ana A. FRANCISCO, Auteur ; John J. FOXE, Auteur ; Sophie MOLHOLM, Auteur Langues : Anglais (eng) Mots-clés : Humans DiGeorge Syndrome/psychology Psychotic Disorders/complications Schizophrenia/complications/genetics Evoked Potentials Brain DiGeorge syndrome Eeg Error monitoring Response inhibition Schizophrenia Sensory processing Velo-cardio-facial syndrome Index. décimale : PER Périodiques Résumé : 22q11.2 deletion syndrome (22q11.2DS) is a multisystemic disorder characterized by a wide range of clinical features, ranging from life-threatening to less severe conditions. One-third of individuals with the deletion live with mild to moderate intellectual disability; approximately 60% meet criteria for at least one psychiatric condition.22q11.2DS has become an important model for several medical, developmental, and psychiatric disorders. We have been particularly interested in understanding the risk for psychosis in this population: Approximately 30% of the individuals with the deletion go on to develop schizophrenia. The characterization of cognitive and neural differences between those individuals who develop schizophrenia and those who do not, despite being at genetic risk, holds important promise in what pertains to the clarification of paths to disease and to the development of tools for early identification and intervention.Here, we review our previous event-related potential (ERP) findings as potential markers for 22q11.2DS and the associated risk for psychosis, while discussing others' work. We focus on auditory processing (auditory-evoked potentials, auditory adaptation, and auditory sensory memory), visual processing (visual-evoked potentials and visual adaptation), and inhibition and error monitoring.The findings discussed suggest basic mechanistic and disease process effects on neural processing in 22q11.2DS that are present in both early sensory and later cognitive processing, with possible implications for phenotype. In early sensory processes, both during auditory and visual processing, two mechanisms that impact neural responses in opposite ways seem to coexist-one related to the deletion, which increases brain responses; another linked to psychosis, decreasing neural activity. Later, higher-order cognitive processes may be equally relevant as markers for psychosis. More specifically, we argue that components related to error monitoring may hold particular promise in the study of risk for schizophrenia in the general population. En ligne : https://dx.doi.org/10.1186/s11689-023-09487-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575
in Journal of Neurodevelopmental Disorders > 15 (2023)[article] Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis [texte imprimé] / Ana A. FRANCISCO, Auteur ; John J. FOXE, Auteur ; Sophie MOLHOLM, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 15 (2023)
Mots-clés : Humans DiGeorge Syndrome/psychology Psychotic Disorders/complications Schizophrenia/complications/genetics Evoked Potentials Brain DiGeorge syndrome Eeg Error monitoring Response inhibition Schizophrenia Sensory processing Velo-cardio-facial syndrome Index. décimale : PER Périodiques Résumé : 22q11.2 deletion syndrome (22q11.2DS) is a multisystemic disorder characterized by a wide range of clinical features, ranging from life-threatening to less severe conditions. One-third of individuals with the deletion live with mild to moderate intellectual disability; approximately 60% meet criteria for at least one psychiatric condition.22q11.2DS has become an important model for several medical, developmental, and psychiatric disorders. We have been particularly interested in understanding the risk for psychosis in this population: Approximately 30% of the individuals with the deletion go on to develop schizophrenia. The characterization of cognitive and neural differences between those individuals who develop schizophrenia and those who do not, despite being at genetic risk, holds important promise in what pertains to the clarification of paths to disease and to the development of tools for early identification and intervention.Here, we review our previous event-related potential (ERP) findings as potential markers for 22q11.2DS and the associated risk for psychosis, while discussing others' work. We focus on auditory processing (auditory-evoked potentials, auditory adaptation, and auditory sensory memory), visual processing (visual-evoked potentials and visual adaptation), and inhibition and error monitoring.The findings discussed suggest basic mechanistic and disease process effects on neural processing in 22q11.2DS that are present in both early sensory and later cognitive processing, with possible implications for phenotype. In early sensory processes, both during auditory and visual processing, two mechanisms that impact neural responses in opposite ways seem to coexist-one related to the deletion, which increases brain responses; another linked to psychosis, decreasing neural activity. Later, higher-order cognitive processes may be equally relevant as markers for psychosis. More specifically, we argue that components related to error monitoring may hold particular promise in the study of risk for schizophrenia in the general population. En ligne : https://dx.doi.org/10.1186/s11689-023-09487-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 Audiovisual Speech Perception in Children with Autism Spectrum Disorders: Evidence from Visual Phonemic Restoration / Julia R. IRWIN in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
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PermalinkEvent-related potential (ERP) correlates of face processing in verbal children with autism spectrum disorders (ASD) and their first-degree relatives: a family study / Olga V. SYSOEVA in Molecular Autism, 9 (2018)
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PermalinkAuditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome / Elizabeth BERRY-KRAVIS ; Mark D. HARNETT ; Scott A. REINES ; Melody A REESE ; Abigail H OUTTERSON ; Claire MICHALAK ; Jeremiah FURMAN ; Mark E. GURNEY ; Lauren E ETHRIDGE in Molecular Autism, 15 (2024)
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PermalinkEffect of presentation rate on auditory processing in Rett syndrome: event-related potential study / Anna REBREIKINA ; Victoria VOINOVA ; Olga SYSOEVA in Molecular Autism, 14 (2023)
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PermalinkAutistic Adults are Not Impaired at Maintaining or Switching Between Counterfactual and Factual Worlds: An ERP Study / Heather J. FERGUSON in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
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