Dépouillements

Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment / Joseph M. PALUMBO in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment Type de document : texte imprimé Auteurs : Joseph M. PALUMBO, Auteur ; Brian F. THOMAS, Auteur ; Dejan BUDIMIROVIC, Auteur ; Steven SIEGEL, Auteur ; Flora TASSONE, Auteur ; Randi HAGERMAN, Auteur ; Christopher FAULK, Auteur ; Stephen O'QUINN, Auteur ; Terri SEBREE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Fragile X Syndrome/drug therapy/genetics  Cannabidiol/pharmacology/therapeutic use  Endocannabinoids/metabolism  Fragile X Mental Retardation Protein/genetics  Cannabidiol  Cannabinoid receptors  Endocannabinoid system  Fragile X syndrome  development. BFT was a consultant to Zynerba Pharmaceuticals at the time of the  manuscript development. DB was an investigator for the CONNECT-FX study for  Zynerba Pharmaceuticals. SS is on the Scientific Advisory Board for fragile X  syndrome for Zynerba Pharmaceuticals. FT and CF have no competing interests. RH  has received funding from Zynerba Pharmaceuticals for the conduct of the study as  an investigator and is on scientific advisory board for fragile X syndrome for  Zynerba Pharmaceuticals. SO’Q and TS are employees of Zynerba Pharmaceuticals. Index. décimale : PER Périodiques Résumé : Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the central nervous system, how it is dysregulated in FXS, and the potential role of cannabidiol as a treatment for FXS. FXS is caused by deficiency or absence of the fragile X messenger ribonucleoprotein 1 (FMR1) protein, FMRP, typically due to the presence of >200 cytosine, guanine, guanine sequence repeats leading to methylation of the FMR1 gene promoter. The absence of FMRP, following FMR1 gene-silencing, disrupts ECS signaling, which has been implicated in FXS pathogenesis. The ECS facilitates synaptic homeostasis and plasticity through the cannabinoid receptor 1, CB(1), on presynaptic terminals, resulting in feedback inhibition of neuronal signaling. ECS-mediated feedback inhibition and synaptic plasticity are thought to be disrupted in FXS, leading to overstimulation, desensitization, and internalization of presynaptic CB(1) receptors. Cannabidiol may help restore synaptic homeostasis by acting as a negative allosteric modulator of CB(1), thereby attenuating the receptor overstimulation, desensitization, and internalization. Moreover, cannabidiol affects DNA methylation, serotonin 5HT(1A) signal transduction, gamma-aminobutyric acid receptor signaling, and dopamine D(2) and D(3) receptor signaling, which may contribute to beneficial effects in patients with FXS. Consistent with these proposed mechanisms of action of cannabidiol in FXS, in the CONNECT-FX trial the transdermal cannabidiol gel, ZYN002, was associated with improvements in measures of social avoidance, irritability, and social interaction, particularly in patients who are most affected, showing ≥90% methylation of the FMR1 gene. En ligne : https://dx.doi.org/10.1186/s11689-023-09475-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment [texte imprimé] / Joseph M. PALUMBO, Auteur ; Brian F. THOMAS, Auteur ; Dejan BUDIMIROVIC, Auteur ; Steven SIEGEL, Auteur ; Flora TASSONE, Auteur ; Randi HAGERMAN, Auteur ; Christopher FAULK, Auteur ; Stephen O'QUINN, Auteur ; Terri SEBREE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Fragile X Syndrome/drug therapy/genetics  Cannabidiol/pharmacology/therapeutic use  Endocannabinoids/metabolism  Fragile X Mental Retardation Protein/genetics  Cannabidiol  Cannabinoid receptors  Endocannabinoid system  Fragile X syndrome  development. BFT was a consultant to Zynerba Pharmaceuticals at the time of the  manuscript development. DB was an investigator for the CONNECT-FX study for  Zynerba Pharmaceuticals. SS is on the Scientific Advisory Board for fragile X  syndrome for Zynerba Pharmaceuticals. FT and CF have no competing interests. RH  has received funding from Zynerba Pharmaceuticals for the conduct of the study as  an investigator and is on scientific advisory board for fragile X syndrome for  Zynerba Pharmaceuticals. SO’Q and TS are employees of Zynerba Pharmaceuticals. Index. décimale : PER Périodiques Résumé : Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the central nervous system, how it is dysregulated in FXS, and the potential role of cannabidiol as a treatment for FXS. FXS is caused by deficiency or absence of the fragile X messenger ribonucleoprotein 1 (FMR1) protein, FMRP, typically due to the presence of >200 cytosine, guanine, guanine sequence repeats leading to methylation of the FMR1 gene promoter. The absence of FMRP, following FMR1 gene-silencing, disrupts ECS signaling, which has been implicated in FXS pathogenesis. The ECS facilitates synaptic homeostasis and plasticity through the cannabinoid receptor 1, CB(1), on presynaptic terminals, resulting in feedback inhibition of neuronal signaling. ECS-mediated feedback inhibition and synaptic plasticity are thought to be disrupted in FXS, leading to overstimulation, desensitization, and internalization of presynaptic CB(1) receptors. Cannabidiol may help restore synaptic homeostasis by acting as a negative allosteric modulator of CB(1), thereby attenuating the receptor overstimulation, desensitization, and internalization. Moreover, cannabidiol affects DNA methylation, serotonin 5HT(1A) signal transduction, gamma-aminobutyric acid receptor signaling, and dopamine D(2) and D(3) receptor signaling, which may contribute to beneficial effects in patients with FXS. Consistent with these proposed mechanisms of action of cannabidiol in FXS, in the CONNECT-FX trial the transdermal cannabidiol gel, ZYN002, was associated with improvements in measures of social avoidance, irritability, and social interaction, particularly in patients who are most affected, showing ≥90% methylation of the FMR1 gene. En ligne : https://dx.doi.org/10.1186/s11689-023-09475-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Computational approaches to address data challenges in intellectual and developmental disabilities research / Daifeng WANG in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Computational approaches to address data challenges in intellectual and developmental disabilities research Type de document : texte imprimé Auteurs : Daifeng WANG, Auteur ; John R. Jr PRUETT, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Developmental Disabilities  Intellectual Disability Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-022-09472-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Computational approaches to address data challenges in intellectual and developmental disabilities research [texte imprimé] / Daifeng WANG, Auteur ; John R. Jr PRUETT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child  Humans  Developmental Disabilities  Intellectual Disability Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-022-09472-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change / Robyn M. BUSCH in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change Type de document : texte imprimé Auteurs : Robyn M. BUSCH, Auteur ; Thomas W. FRAZIER II, Auteur ; Claire SONNEBORN, Auteur ; Olivia HOGUE, Auteur ; Patricia KLAAS, Auteur ; Siddharth SRIVASTAVA, Auteur ; Antonio Y. HARDAN, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Mustafa SAHIN, Auteur ; Charis ENG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/complications/diagnosis/genetics  Hamartoma Syndrome, Multiple/diagnosis  Neuropsychological Tests  Phenotype  PTEN Phosphohydrolase/genetics  Child  Adolescent  Young Adult  Autism spectrum disorder  Behavior  Cognition  Pten  PTEN hamartoma tumor syndrome  Reliable change indices  Standardized regression-based change scores  Martinez-Agosto, and Dr. Eng declare that they have no competing interests. Dr.  Frazier has received funding or research support from, acted as a consultant to,  received travel support from, and/or received a speaker’s honorarium from the  PTEN Research Foundation, SYNGAP Research Fund, Malan Syndrome Foundation, ADNP  Kids Research Foundation, Quadrant Biosciences, Autism Speaks, Impel NeuroPharma,  F. Hoffmann-La Roche AG Pharmaceuticals, the Cole Family Research Fund, Simons  Foundation, Ingalls Foundation, Forest Laboratories, Ecoeos, IntegraGen, Kugona  LLC, Shire Development, Bristol-Myers Squibb, Roche Pharma, MaraBio, National  Institutes of Health, and the Brain and Behavior Research Foundation and has an  investor stake in Autism EYES LLC. Dr. Sahin reports grant support from Novartis,  Biogen, Astellas, Aeovian, Bridgebio, and Aucta. He has served on Scientific  Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics, and Alkermes, all unrelated to this project. Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with PTEN hamartoma tumor syndrome (PHTS) demonstrate a distinct neurobehavioral profile suggesting primary disruption of frontal lobe symptoms, with more severe cognitive deficits in those with associated autism spectrum disorder (ASD) that extend to other areas of neurobehavioral function as well (e.g., adaptive behavior, sensory deficits). The current study sought to characterize longitudinal neurobehavioral profiles in individuals with PHTS who completed serial assessments (2-3 evaluations) over a 2-year time period. METHODS: Comprehensive neurobehavioral evaluations were conducted on 92 participants (age range 6-21) with PHTS and/or ASD. Spaghetti plots and linear mixed effects models were used to visualize the individual patient profiles and group trends and examine the group differences in cognitive/behavioral test scores over time. Practice-adjusted reliable change indices (RCIs) and standardized regression-based change scores (SRBs) were calculated for those measures in the battery with adequate sample sizes and test-retest reliabilities for future use in assessing neurobehavioral change in children and young adults with PHTS. RESULTS: Wide individual differences were observed at baseline across all measures. Encouragingly, baseline differences between patient groups persisted at the same magnitude over a 2-year time period with no differences in longitudinal neurobehavioral profiles within any one group. Test-retest reliabilities were generally high, ranging from 0.62 to 0.97, and group mean change from baseline to 12 months was small (range - 3.8 to 3.7). A Microsoft Excel calculator was created that clinicians and researchers can use to automatically calculate RCI and SRB thresholds at both 80% and 90% confidence intervals using test scores from a given child or young adult with PHTS. CONCLUSIONS: Our results suggest that the neurobehavioral phenotypes observed in individuals with PHTS remain relatively stable over time, even in those with ASD. The RCIs and SRBs provided can be used in future research to examine patient outcomes at the individual level as well as to detect negative deviations from the expected trajectory that can be used to inform intervention strategies. En ligne : https://dx.doi.org/10.1186/s11689-022-09468-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change [texte imprimé] / Robyn M. BUSCH, Auteur ; Thomas W. FRAZIER II, Auteur ; Claire SONNEBORN, Auteur ; Olivia HOGUE, Auteur ; Patricia KLAAS, Auteur ; Siddharth SRIVASTAVA, Auteur ; Antonio Y. HARDAN, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Mustafa SAHIN, Auteur ; Charis ENG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Autism Spectrum Disorder/complications/diagnosis/genetics  Hamartoma Syndrome, Multiple/diagnosis  Neuropsychological Tests  Phenotype  PTEN Phosphohydrolase/genetics  Child  Adolescent  Young Adult  Autism spectrum disorder  Behavior  Cognition  Pten  PTEN hamartoma tumor syndrome  Reliable change indices  Standardized regression-based change scores  Martinez-Agosto, and Dr. Eng declare that they have no competing interests. Dr.  Frazier has received funding or research support from, acted as a consultant to,  received travel support from, and/or received a speaker’s honorarium from the  PTEN Research Foundation, SYNGAP Research Fund, Malan Syndrome Foundation, ADNP  Kids Research Foundation, Quadrant Biosciences, Autism Speaks, Impel NeuroPharma,  F. Hoffmann-La Roche AG Pharmaceuticals, the Cole Family Research Fund, Simons  Foundation, Ingalls Foundation, Forest Laboratories, Ecoeos, IntegraGen, Kugona  LLC, Shire Development, Bristol-Myers Squibb, Roche Pharma, MaraBio, National  Institutes of Health, and the Brain and Behavior Research Foundation and has an  investor stake in Autism EYES LLC. Dr. Sahin reports grant support from Novartis,  Biogen, Astellas, Aeovian, Bridgebio, and Aucta. He has served on Scientific  Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics, and Alkermes, all unrelated to this project. Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with PTEN hamartoma tumor syndrome (PHTS) demonstrate a distinct neurobehavioral profile suggesting primary disruption of frontal lobe symptoms, with more severe cognitive deficits in those with associated autism spectrum disorder (ASD) that extend to other areas of neurobehavioral function as well (e.g., adaptive behavior, sensory deficits). The current study sought to characterize longitudinal neurobehavioral profiles in individuals with PHTS who completed serial assessments (2-3 evaluations) over a 2-year time period. METHODS: Comprehensive neurobehavioral evaluations were conducted on 92 participants (age range 6-21) with PHTS and/or ASD. Spaghetti plots and linear mixed effects models were used to visualize the individual patient profiles and group trends and examine the group differences in cognitive/behavioral test scores over time. Practice-adjusted reliable change indices (RCIs) and standardized regression-based change scores (SRBs) were calculated for those measures in the battery with adequate sample sizes and test-retest reliabilities for future use in assessing neurobehavioral change in children and young adults with PHTS. RESULTS: Wide individual differences were observed at baseline across all measures. Encouragingly, baseline differences between patient groups persisted at the same magnitude over a 2-year time period with no differences in longitudinal neurobehavioral profiles within any one group. Test-retest reliabilities were generally high, ranging from 0.62 to 0.97, and group mean change from baseline to 12 months was small (range - 3.8 to 3.7). A Microsoft Excel calculator was created that clinicians and researchers can use to automatically calculate RCI and SRB thresholds at both 80% and 90% confidence intervals using test scores from a given child or young adult with PHTS. CONCLUSIONS: Our results suggest that the neurobehavioral phenotypes observed in individuals with PHTS remain relatively stable over time, even in those with ASD. The RCIs and SRBs provided can be used in future research to examine patient outcomes at the individual level as well as to detect negative deviations from the expected trajectory that can be used to inform intervention strategies. En ligne : https://dx.doi.org/10.1186/s11689-022-09468-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study / Cristan FARMER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study Type de document : texte imprimé Auteurs : Cristan FARMER, Auteur ; Audrey THURM, Auteur ; Jesse D. TROY, Auteur ; Aaron J. KAAT, Auteur Langues : Anglais (eng) Mots-clés : Humans  Communication  Learning  Neurodevelopmental Disorders/diagnosis  Patient Simulation  Ability score  Clinical outcome assessment  Clinical trials  Endpoints  Floor effect  Growth scale value  Item response theory  Neurodevelopmental disability  Rare genetic condition  Rasch analysis Index. décimale : PER Périodiques Résumé : BACKGROUND: For genetic conditions associated with neurodevelopmental disorder (GCAND), developmental domains such as motor ability, thinking and learning, social abilities, and communication are potential intervention targets. Performance on measures of developmental concepts can be expressed using several types of scores. Norm-referenced scores are intended for the diagnostic context, allowing for the identification of impairment relative to age-based expectations, and can exhibit dramatic floor effects when used in individuals with more significant limitations. Person ability scores, which are derived via Rasch analysis or item response theory, are available on many standardized tests and are intended to measure within-person change. However, they have not been used or evaluated as primary endpoints in GCAND clinical trials. In this study, we simulated a series of parallel-arm clinical trials under several chronological age and impairment conditions, to compare empirically the power and type I error rate of operationalizing test performance using ability scores rather than norm-referenced scores. RESULTS: Using the Vineland Adaptive Behavior Scales as the example, we demonstrated an advantage in statistical power of ability scores over norm-referenced scores at extreme levels of impairment. This advantage was at least partially driven by floor effects in norm-referenced scores. For simulated conditions where impairment was less severe, ability scores outperformed norm-referenced scores, but they were more similar. The type I error rate closely approximated the nominal type I error rate of 5% for both scores. CONCLUSION: The results of this simulation demonstrate a substantial power and interpretative advantage of ability scores over norm-referenced scores for studies of GCAND that will enroll participants with high levels of impairment. These results are expected to generalize to studies of developmental concepts, regardless of the etiology or specific test. However, the relative advantage of ability scores is expected to be even greater for tests with a higher floor than the Vineland. En ligne : https://dx.doi.org/10.1186/s11689-022-09474-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study [texte imprimé] / Cristan FARMER, Auteur ; Audrey THURM, Auteur ; Jesse D. TROY, Auteur ; Aaron J. KAAT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Communication  Learning  Neurodevelopmental Disorders/diagnosis  Patient Simulation  Ability score  Clinical outcome assessment  Clinical trials  Endpoints  Floor effect  Growth scale value  Item response theory  Neurodevelopmental disability  Rare genetic condition  Rasch analysis Index. décimale : PER Périodiques Résumé : BACKGROUND: For genetic conditions associated with neurodevelopmental disorder (GCAND), developmental domains such as motor ability, thinking and learning, social abilities, and communication are potential intervention targets. Performance on measures of developmental concepts can be expressed using several types of scores. Norm-referenced scores are intended for the diagnostic context, allowing for the identification of impairment relative to age-based expectations, and can exhibit dramatic floor effects when used in individuals with more significant limitations. Person ability scores, which are derived via Rasch analysis or item response theory, are available on many standardized tests and are intended to measure within-person change. However, they have not been used or evaluated as primary endpoints in GCAND clinical trials. In this study, we simulated a series of parallel-arm clinical trials under several chronological age and impairment conditions, to compare empirically the power and type I error rate of operationalizing test performance using ability scores rather than norm-referenced scores. RESULTS: Using the Vineland Adaptive Behavior Scales as the example, we demonstrated an advantage in statistical power of ability scores over norm-referenced scores at extreme levels of impairment. This advantage was at least partially driven by floor effects in norm-referenced scores. For simulated conditions where impairment was less severe, ability scores outperformed norm-referenced scores, but they were more similar. The type I error rate closely approximated the nominal type I error rate of 5% for both scores. CONCLUSION: The results of this simulation demonstrate a substantial power and interpretative advantage of ability scores over norm-referenced scores for studies of GCAND that will enroll participants with high levels of impairment. These results are expected to generalize to studies of developmental concepts, regardless of the etiology or specific test. However, the relative advantage of ability scores is expected to be even greater for tests with a higher floor than the Vineland. En ligne : https://dx.doi.org/10.1186/s11689-022-09474-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties / Jaclyn GUNDERSON in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties Type de document : texte imprimé Auteurs : Jaclyn GUNDERSON, Auteur ; Emma WORTHLEY, Auteur ; Breanne BYIERS, Auteur ; Frank SYMONS, Auteur ; Jason WOLFF, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/diagnosis  Psychometrics  Caregivers  Surveys and Questionnaires  Assessment  Autism spectrum disorder  Sensory  Sensory responsivity  Systematic review Index. décimale : PER Périodiques Résumé : BACKGROUND: Unusual responses to sensory stimuli are considered a diagnostic symptom of autism spectrum disorder with mounting research efforts put towards understanding, characterizing, and treating such symptoms. METHODS: This paper examines self and caregiver report tools used to measure sensory features in ASD through a systematic review of the psychometric evidence for their use. A total of 31 empirical papers were reviewed across 20 assessment tools. Substantial differences were identified in the specific sensory features defined across assessment tools. Sensory assessment questionnaires were evaluated against quality psychometric evidence criteria to provide a use recommendation. RESULTS: Five assessments were identified to be "appropriate with conditions," while no sensory assessment tools were identified to have sufficient quality psychometric evidence to provide a recommendation of "Appropriate" for measuring sensory features in ASD. CONCLUSION: Evidence from this review highlights potentially significant shortcomings among the current methods used to measure sensory features in ASD and suggests the need for more efforts in developing psychometrically sound sensory assessment tools for use in ASD populations. En ligne : https://dx.doi.org/10.1186/s11689-022-09473-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties [texte imprimé] / Jaclyn GUNDERSON, Auteur ; Emma WORTHLEY, Auteur ; Breanne BYIERS, Auteur ; Frank SYMONS, Auteur ; Jason WOLFF, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Autism Spectrum Disorder/diagnosis  Psychometrics  Caregivers  Surveys and Questionnaires  Assessment  Autism spectrum disorder  Sensory  Sensory responsivity  Systematic review Index. décimale : PER Périodiques Résumé : BACKGROUND: Unusual responses to sensory stimuli are considered a diagnostic symptom of autism spectrum disorder with mounting research efforts put towards understanding, characterizing, and treating such symptoms. METHODS: This paper examines self and caregiver report tools used to measure sensory features in ASD through a systematic review of the psychometric evidence for their use. A total of 31 empirical papers were reviewed across 20 assessment tools. Substantial differences were identified in the specific sensory features defined across assessment tools. Sensory assessment questionnaires were evaluated against quality psychometric evidence criteria to provide a use recommendation. RESULTS: Five assessments were identified to be "appropriate with conditions," while no sensory assessment tools were identified to have sufficient quality psychometric evidence to provide a recommendation of "Appropriate" for measuring sensory features in ASD. CONCLUSION: Evidence from this review highlights potentially significant shortcomings among the current methods used to measure sensory features in ASD and suggests the need for more efforts in developing psychometrically sound sensory assessment tools for use in ASD populations. En ligne : https://dx.doi.org/10.1186/s11689-022-09473-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat / Di WU in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat Type de document : texte imprimé Auteurs : Di WU, Auteur ; Jiansheng ZHU, Auteur ; Lianghui YOU, Auteur ; Jingyu WANG, Auteur ; Sufen ZHANG, Auteur ; Zhonghui LIU, Auteur ; Qu XU, Auteur ; Xiaojie YUAN, Auteur ; Lei YANG, Auteur ; Wei WANG, Auteur ; Meiling TONG, Auteur ; Qin HONG, Auteur ; Xia CHI, Auteur Langues : Anglais (eng) Mots-clés : Animals  Rats  Anxiety  Autism Spectrum Disorder/genetics  Calcium-Binding Proteins/genetics  Neural Cell Adhesion Molecules/genetics  Neuronal Outgrowth  Phenotype  Prefrontal Cortex  Proteomics  Anxiety-like behavior  Cell adhesion molecules  Nrxn1  Neurite outgrowth  Neurodevelopmental disorders  Social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs) are a group of disorders induced by abnormal brain developmental processes. The prefrontal cortex (PFC) plays an essential role in executive function, and its role in NDDs has been reported. NDDs are associated with high-risk gene mutations and share partially overlapping genetic abnormalities. METHODS: Neurexins (NRXNs) are related to autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). NRXN1, an essential susceptibility gene for NDDs, has been reported to be associated with NDDs. However, little is known about its key role in NDDs. RESULTS: NRXN1 downregulation in the medial PFC induced anxiety-like behaviors and abnormal social phenotypes with impaired neurite outgrowth in Sh-NRXN1 in prefrontal neurons. Moreover, tandem mass tag (TMT)-based proteomic analysis of rat brain samples showed that NRXN1 downregulation led to significant proteome alterations, including pathways related to the extracellular matrix, cell membrane, and morphologic change. Furthermore, full-automatic immunoblotting analysis verified the differently expressed proteins related to cell morphology and membrane structure. CONCLUSIONS: Our results confirmed the association of NRXN1 with abnormal behaviors in NDDs and provided richer insights into specific prefrontal knockdown in adolescence, potentially expanding the NRXN1 interactome and contributing to human health. En ligne : https://dx.doi.org/10.1186/s11689-022-09471-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat [texte imprimé] / Di WU, Auteur ; Jiansheng ZHU, Auteur ; Lianghui YOU, Auteur ; Jingyu WANG, Auteur ; Sufen ZHANG, Auteur ; Zhonghui LIU, Auteur ; Qu XU, Auteur ; Xiaojie YUAN, Auteur ; Lei YANG, Auteur ; Wei WANG, Auteur ; Meiling TONG, Auteur ; Qin HONG, Auteur ; Xia CHI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Animals  Rats  Anxiety  Autism Spectrum Disorder/genetics  Calcium-Binding Proteins/genetics  Neural Cell Adhesion Molecules/genetics  Neuronal Outgrowth  Phenotype  Prefrontal Cortex  Proteomics  Anxiety-like behavior  Cell adhesion molecules  Nrxn1  Neurite outgrowth  Neurodevelopmental disorders  Social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs) are a group of disorders induced by abnormal brain developmental processes. The prefrontal cortex (PFC) plays an essential role in executive function, and its role in NDDs has been reported. NDDs are associated with high-risk gene mutations and share partially overlapping genetic abnormalities. METHODS: Neurexins (NRXNs) are related to autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). NRXN1, an essential susceptibility gene for NDDs, has been reported to be associated with NDDs. However, little is known about its key role in NDDs. RESULTS: NRXN1 downregulation in the medial PFC induced anxiety-like behaviors and abnormal social phenotypes with impaired neurite outgrowth in Sh-NRXN1 in prefrontal neurons. Moreover, tandem mass tag (TMT)-based proteomic analysis of rat brain samples showed that NRXN1 downregulation led to significant proteome alterations, including pathways related to the extracellular matrix, cell membrane, and morphologic change. Furthermore, full-automatic immunoblotting analysis verified the differently expressed proteins related to cell morphology and membrane structure. CONCLUSIONS: Our results confirmed the association of NRXN1 with abnormal behaviors in NDDs and provided richer insights into specific prefrontal knockdown in adolescence, potentially expanding the NRXN1 interactome and contributing to human health. En ligne : https://dx.doi.org/10.1186/s11689-022-09471-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Cortical and subcortical morphological alteration in Angelman syndrome / Xiaonan DU in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Cortical and subcortical morphological alteration in Angelman syndrome Type de document : texte imprimé Auteurs : Xiaonan DU, Auteur ; Lei WEI, Auteur ; Baofeng YANG, Auteur ; Shasha LONG, Auteur ; Ji WANG, Auteur ; Aiqi SUN, Auteur ; Yonghui JIANG, Auteur ; Zhongwei QIAO, Auteur ; He WANG, Auteur ; Yi WANG, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnostic imaging  Brain/diagnostic imaging  Gray Matter/diagnostic imaging  Magnetic Resonance Imaging/methods  Parietal Lobe  Seizures  Angelman syndrome  Brain morphometry  Mri  Seizure Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development. METHODS: Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with seizure (AS-Se) and age-matched AS patients with non-seizure (AS-NSe) were compared. The voxel-based and surface-based morphometry analyses were used in our study. Gray matter volume, cortical thickness (CTH), and local gyrification index (LGI) were assessed to analyze the cortical and subcortical structure alteration in the AS brain. RESULTS: Firstly, compared with the HC group, children with AS were found to have a significant decrease in gray matter volume in the subcortical nucleus, cortical, and cerebellum. However, the gray matter volume of AS patients in the inferior precuneus was significantly increased. Secondly, patients with AS had significantly increased LGI in the whole brain as compared with HC. Thirdly, the comparison of AS-Se and the AS-NSe groups revealed a significant decrease in caudate volume in the AS-Se group. Lastly, we further selected the caudate and the precuneus as ROIs for volumetric analysis, the AS group showed significantly increased LGI in the precuneus and reduced CTH in the right precuneus. Between the AS-Se and the AS-NSe groups, the AS-Se group exhibited significantly lower density in the caudate, while only the CTH in the left precuneus showed a significant difference. CONCLUSIONS: These results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes. En ligne : https://dx.doi.org/10.1186/s11689-022-09469-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Cortical and subcortical morphological alteration in Angelman syndrome [texte imprimé] / Xiaonan DU, Auteur ; Lei WEI, Auteur ; Baofeng YANG, Auteur ; Shasha LONG, Auteur ; Ji WANG, Auteur ; Aiqi SUN, Auteur ; Yonghui JIANG, Auteur ; Zhongwei QIAO, Auteur ; He WANG, Auteur ; Yi WANG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnostic imaging  Brain/diagnostic imaging  Gray Matter/diagnostic imaging  Magnetic Resonance Imaging/methods  Parietal Lobe  Seizures  Angelman syndrome  Brain morphometry  Mri  Seizure Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development. METHODS: Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with seizure (AS-Se) and age-matched AS patients with non-seizure (AS-NSe) were compared. The voxel-based and surface-based morphometry analyses were used in our study. Gray matter volume, cortical thickness (CTH), and local gyrification index (LGI) were assessed to analyze the cortical and subcortical structure alteration in the AS brain. RESULTS: Firstly, compared with the HC group, children with AS were found to have a significant decrease in gray matter volume in the subcortical nucleus, cortical, and cerebellum. However, the gray matter volume of AS patients in the inferior precuneus was significantly increased. Secondly, patients with AS had significantly increased LGI in the whole brain as compared with HC. Thirdly, the comparison of AS-Se and the AS-NSe groups revealed a significant decrease in caudate volume in the AS-Se group. Lastly, we further selected the caudate and the precuneus as ROIs for volumetric analysis, the AS group showed significantly increased LGI in the precuneus and reduced CTH in the right precuneus. Between the AS-Se and the AS-NSe groups, the AS-Se group exhibited significantly lower density in the caudate, while only the CTH in the left precuneus showed a significant difference. CONCLUSIONS: These results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes. En ligne : https://dx.doi.org/10.1186/s11689-022-09469-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome / Armin RAZNAHAN in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome Type de document : texte imprimé Auteurs : Armin RAZNAHAN, Auteur ; Srishti RAU, Auteur ; Luke SCHAFFER, Auteur ; Siyuan LIU, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Liv S. CLASEN, Auteur ; Lisa JOSEPH, Auteur ; Audrey THURM, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Dani S. BASSETT, Auteur ; Erin N. TORRES, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  XYY Karyotype  Sex Chromosome Disorders/diagnosis  Cognition  Phenotype  Adaptive function  Behavioral phenotyping  Deep phenotyping  Neurogenetics  Sex chromosomes  Symptom networks Index. décimale : PER Périodiques Résumé : BACKGROUND: Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. METHOD: We gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes. RESULTS: Carriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of < 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network. CONCLUSIONS: This study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09476-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome [texte imprimé] / Armin RAZNAHAN, Auteur ; Srishti RAU, Auteur ; Luke SCHAFFER, Auteur ; Siyuan LIU, Auteur ; Ari M. FISH, Auteur ; Catherine MANKIW, Auteur ; Anastasia XENOPHONTOS, Auteur ; Liv S. CLASEN, Auteur ; Lisa JOSEPH, Auteur ; Audrey THURM, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Dani S. BASSETT, Auteur ; Erin N. TORRES, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Male  XYY Karyotype  Sex Chromosome Disorders/diagnosis  Cognition  Phenotype  Adaptive function  Behavioral phenotyping  Deep phenotyping  Neurogenetics  Sex chromosomes  Symptom networks Index. décimale : PER Périodiques Résumé : BACKGROUND: Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. METHOD: We gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes. RESULTS: Carriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of < 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network. CONCLUSIONS: This study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09476-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Co-occurring conditions in children with Down syndrome and autism: a retrospective study / Noemi A. SPINAZZI in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Co-occurring conditions in children with Down syndrome and autism: a retrospective study Type de document : texte imprimé Auteurs : Noemi A. SPINAZZI, Auteur ; Jonathan D. SANTORO, Auteur ; Katherine PAWLOWSKI, Auteur ; Gabriel ANZUETO, Auteur ; Yamini J. HOWE, Auteur ; Lina R. PATEL, Auteur ; Nicole T. BAUMER, Auteur Langues : Anglais (eng) Mots-clés : Male  Humans  Female  Autistic Disorder  Down Syndrome/complications/epidemiology  Autism Spectrum Disorder/complications/epidemiology  Retrospective Studies  Prospective Studies  Autism spectrum disorder  Co-occurring medical conditions  Comorbid  Down syndrome  Medical disease  Prevalence Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09478-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Co-occurring conditions in children with Down syndrome and autism: a retrospective study [texte imprimé] / Noemi A. SPINAZZI, Auteur ; Jonathan D. SANTORO, Auteur ; Katherine PAWLOWSKI, Auteur ; Gabriel ANZUETO, Auteur ; Yamini J. HOWE, Auteur ; Lina R. PATEL, Auteur ; Nicole T. BAUMER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Male  Humans  Female  Autistic Disorder  Down Syndrome/complications/epidemiology  Autism Spectrum Disorder/complications/epidemiology  Retrospective Studies  Prospective Studies  Autism spectrum disorder  Co-occurring medical conditions  Comorbid  Down syndrome  Medical disease  Prevalence Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09478-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Comparison of evoked potentials across four related developmental encephalopathies / Joni N. SABY in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) 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 [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

Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder / Mairin COTTER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Mairin COTTER, Auteur ; Seydanur REISLI, Auteur ; Ana Alves FRANCISCO, Auteur ; Kathryn-Mary WAKIM, Auteur ; Leona OAKES, Auteur ; Michael J. CROSSE, Auteur ; John J. FOXE, Auteur ; Sophie MOLHOLM, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Autism Spectrum Disorder/complications  Evoked Potentials/physiology  Auditory Perception/physiology  Magnetoencephalography  Adaptation, Psychological  Adaptive behavior  Auditory processing  Autism Spectrum Disorder  Electroencephalography  Event related potentials  Lateralization Index. décimale : PER Périodiques Résumé : BACKGROUND: Atypical auditory cortical processing is consistently found in scalp electrophysiological and magnetoencephalographic studies of Autism Spectrum Disorder (ASD), and may provide a marker of neuropathological brain development. However, the relationship between atypical cortical processing of auditory information and adaptive behavior in ASD is not yet well understood. METHODS: We sought to test the hypothesis that early (100-175 ms) auditory processing in ASD is related to everyday adaptive behavior through the examination of auditory event-related potentials (AEPs) in response to simple tones and Vineland Adaptive Behavior Scales in a large cohort of children with ASD (N = 84), aged 6-17, and in age- and IQ- matched neurotypically (NT) developing controls (N = 132). RESULTS: Statistical analyses revealed significant group differences in early AEPs over temporal scalp regions (150-175 ms), and the expected rightward lateralization of the AEP (100-125 ms and 150-175 ms) to tonal stimuli in both groups. Lateralization of the AEP (150-175 ms) was significantly associated with adaptive functioning in the socialization domain. CONCLUSIONS: These results lend support to the hypothesis that atypical processing of sensory information is related to everyday adaptive behavior in autism. En ligne : https://dx.doi.org/10.1186/s11689-023-09480-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder [texte imprimé] / Mairin COTTER, Auteur ; Seydanur REISLI, Auteur ; Ana Alves FRANCISCO, Auteur ; Kathryn-Mary WAKIM, Auteur ; Leona OAKES, Auteur ; Michael J. CROSSE, Auteur ; John J. FOXE, Auteur ; Sophie MOLHOLM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Autism Spectrum Disorder/complications  Evoked Potentials/physiology  Auditory Perception/physiology  Magnetoencephalography  Adaptation, Psychological  Adaptive behavior  Auditory processing  Autism Spectrum Disorder  Electroencephalography  Event related potentials  Lateralization Index. décimale : PER Périodiques Résumé : BACKGROUND: Atypical auditory cortical processing is consistently found in scalp electrophysiological and magnetoencephalographic studies of Autism Spectrum Disorder (ASD), and may provide a marker of neuropathological brain development. However, the relationship between atypical cortical processing of auditory information and adaptive behavior in ASD is not yet well understood. METHODS: We sought to test the hypothesis that early (100-175 ms) auditory processing in ASD is related to everyday adaptive behavior through the examination of auditory event-related potentials (AEPs) in response to simple tones and Vineland Adaptive Behavior Scales in a large cohort of children with ASD (N = 84), aged 6-17, and in age- and IQ- matched neurotypically (NT) developing controls (N = 132). RESULTS: Statistical analyses revealed significant group differences in early AEPs over temporal scalp regions (150-175 ms), and the expected rightward lateralization of the AEP (100-125 ms and 150-175 ms) to tonal stimuli in both groups. Lateralization of the AEP (150-175 ms) was significantly associated with adaptive functioning in the socialization domain. CONCLUSIONS: These results lend support to the hypothesis that atypical processing of sensory information is related to everyday adaptive behavior in autism. En ligne : https://dx.doi.org/10.1186/s11689-023-09480-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

No difference in extra-axial cerebrospinal fluid volumes across neurodevelopmental and psychiatric conditions in later childhood and adolescence / Madeline PETERSON in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : No difference in extra-axial cerebrospinal fluid volumes across neurodevelopmental and psychiatric conditions in later childhood and adolescence Type de document : texte imprimé Auteurs : Madeline PETERSON, Auteur ; Christopher WHETTEN, Auteur ; Anne M. CLARK, Auteur ; Jared A. NIELSEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Adolescent  Infant  Child, Preschool  Autism Spectrum Disorder/cerebrospinal fluid  Cross-Sectional Studies  Magnetic Resonance Imaging/methods  Autistic Disorder  Brain  Autism spectrum disorder  Brain development  Cerebrospinal fluid  Extra-axial cerebrospinal fluid  Mri Index. décimale : PER Périodiques Résumé : BACKGROUND: While autism spectrum disorder has been associated with various organizational and developmental aberrations in the brain, an increase in extra-axial cerebrospinal fluid volume has recently garnered attention. A series of studies indicate that an increased volume between the ages of 6 months and 4 years was both predictive of the autism diagnosis and symptom severity regardless of genetic risk for the condition. However, there remains a minimal understanding regarding the specificity of an increased volume of extra-axial cerebrospinal fluid to autism. METHODS: In the present study, we explored extra-axial cerebrospinal fluid volumes in children and adolescents ages 5-21 years with various neurodevelopmental and psychiatric conditions. We hypothesized that an elevated extra-axial cerebrospinal fluid volume would be found in autism compared with typical development and the other diagnostic group. We tested this hypothesis by employing a cross-sectional dataset of 446 individuals (85 autistic, 60 typically developing, and 301 other diagnosis). An analysis of covariance was used to examine differences in extra-axial cerebrospinal fluid volumes between these groups as well as a group by age interaction in extra-axial cerebrospinal fluid volumes. RESULTS: Inconsistent with our hypothesis, we found no group differences in extra-axial cerebrospinal fluid volume in this cohort. However, in replication of previous work, a doubling of extra-axial cerebrospinal fluid volume across adolescence was found. Further investigation into the relationship between extra-axial cerebrospinal fluid volume and cortical thickness suggested that this increase in extra-axial cerebrospinal fluid volume may be driven by a decrease in cortical thickness. Furthermore, an exploratory analysis found no relationship between extra-axial cerebrospinal fluid volume and sleep disturbances. CONCLUSIONS: These results indicate that an increased volume of extra-axial cerebrospinal fluid may be limited to autistic individuals younger than 5 years. Additionally, extra-axial cerebrospinal fluid volume does not differ between autistic, neurotypical, and other psychiatric conditions after age 4. En ligne : https://dx.doi.org/10.1186/s11689-023-09477-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] No difference in extra-axial cerebrospinal fluid volumes across neurodevelopmental and psychiatric conditions in later childhood and adolescence [texte imprimé] / Madeline PETERSON, Auteur ; Christopher WHETTEN, Auteur ; Anne M. CLARK, Auteur ; Jared A. NIELSEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Adolescent  Infant  Child, Preschool  Autism Spectrum Disorder/cerebrospinal fluid  Cross-Sectional Studies  Magnetic Resonance Imaging/methods  Autistic Disorder  Brain  Autism spectrum disorder  Brain development  Cerebrospinal fluid  Extra-axial cerebrospinal fluid  Mri Index. décimale : PER Périodiques Résumé : BACKGROUND: While autism spectrum disorder has been associated with various organizational and developmental aberrations in the brain, an increase in extra-axial cerebrospinal fluid volume has recently garnered attention. A series of studies indicate that an increased volume between the ages of 6 months and 4 years was both predictive of the autism diagnosis and symptom severity regardless of genetic risk for the condition. However, there remains a minimal understanding regarding the specificity of an increased volume of extra-axial cerebrospinal fluid to autism. METHODS: In the present study, we explored extra-axial cerebrospinal fluid volumes in children and adolescents ages 5-21 years with various neurodevelopmental and psychiatric conditions. We hypothesized that an elevated extra-axial cerebrospinal fluid volume would be found in autism compared with typical development and the other diagnostic group. We tested this hypothesis by employing a cross-sectional dataset of 446 individuals (85 autistic, 60 typically developing, and 301 other diagnosis). An analysis of covariance was used to examine differences in extra-axial cerebrospinal fluid volumes between these groups as well as a group by age interaction in extra-axial cerebrospinal fluid volumes. RESULTS: Inconsistent with our hypothesis, we found no group differences in extra-axial cerebrospinal fluid volume in this cohort. However, in replication of previous work, a doubling of extra-axial cerebrospinal fluid volume across adolescence was found. Further investigation into the relationship between extra-axial cerebrospinal fluid volume and cortical thickness suggested that this increase in extra-axial cerebrospinal fluid volume may be driven by a decrease in cortical thickness. Furthermore, an exploratory analysis found no relationship between extra-axial cerebrospinal fluid volume and sleep disturbances. CONCLUSIONS: These results indicate that an increased volume of extra-axial cerebrospinal fluid may be limited to autistic individuals younger than 5 years. Additionally, extra-axial cerebrospinal fluid volume does not differ between autistic, neurotypical, and other psychiatric conditions after age 4. En ligne : https://dx.doi.org/10.1186/s11689-023-09477-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The contribution of theta and delta to feedback processing in children with developmental language disorder / Asiya GUL in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : The contribution of theta and delta to feedback processing in children with developmental language disorder Type de document : texte imprimé Auteurs : Asiya GUL, Auteur ; Lauren S. BARON, Auteur ; Yael ARBEL, Auteur Langues : Anglais (eng) Mots-clés : Humans  Feedback  Language Development Disorders/complications  Learning  Language Development  Corpus Striatum Index. décimale : PER Périodiques Résumé : PURPOSE: The study aimed at evaluating feedback processing at the electrophysiological level and its relation to learning in children with developmental language disorder (DLD) to further advance our understanding of the underlying neural mechanisms of feedback-based learning in children with this disorder. METHOD: A feedback-based probabilistic learning task required children to classify novel cartoon animals into two categories that differ on five binary features, the probabilistic combination of which determined classification. The learning outcomes' variance in relation to time- and time-frequency measures of feedback processing were examined and compared between 20 children with developmental language disorder and 25 age-matched children with typical language development. RESULTS: Children with developmental language disorder (DLD) performed poorer on the task when compared with their age-matched peers with typical language development (TD). The electrophysiological data in the time domain indicated no differences in the processing of positive and negative feedback among children with DLD. However, the time-frequency analysis revealed a strong theta activity in response to negative feedback in this group, suggesting an initial distinction between positive and negative feedback that was not captured by the ERP data. In the TD group, delta activity played a major role in shaping the FRN and P3a and was found to predict test performance. Delta did not contribute to the FRN and P3a in the DLD group. Additionally, theta and delta activities were not associated with the learning outcomes of children with DLD. CONCLUSION: Theta activity, which is associated with the initial processing of feedback at the level of the anterior cingulate cortex, was detected in children with developmental language disorder (DLD) but was not associated with their learning outcomes. Delta activity, which is assumed to be generated by the striatum and to be linked to elaborate processing of outcomes and adjustment of future actions, contributed to processing and learning outcomes of children with typical language development but not of children with DLD. The results provide evidence for atypical striatum-based feedback processing in children with DLD. En ligne : https://dx.doi.org/10.1186/s11689-023-09481-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The contribution of theta and delta to feedback processing in children with developmental language disorder [texte imprimé] / Asiya GUL, Auteur ; Lauren S. BARON, Auteur ; Yael ARBEL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Feedback  Language Development Disorders/complications  Learning  Language Development  Corpus Striatum Index. décimale : PER Périodiques Résumé : PURPOSE: The study aimed at evaluating feedback processing at the electrophysiological level and its relation to learning in children with developmental language disorder (DLD) to further advance our understanding of the underlying neural mechanisms of feedback-based learning in children with this disorder. METHOD: A feedback-based probabilistic learning task required children to classify novel cartoon animals into two categories that differ on five binary features, the probabilistic combination of which determined classification. The learning outcomes' variance in relation to time- and time-frequency measures of feedback processing were examined and compared between 20 children with developmental language disorder and 25 age-matched children with typical language development. RESULTS: Children with developmental language disorder (DLD) performed poorer on the task when compared with their age-matched peers with typical language development (TD). The electrophysiological data in the time domain indicated no differences in the processing of positive and negative feedback among children with DLD. However, the time-frequency analysis revealed a strong theta activity in response to negative feedback in this group, suggesting an initial distinction between positive and negative feedback that was not captured by the ERP data. In the TD group, delta activity played a major role in shaping the FRN and P3a and was found to predict test performance. Delta did not contribute to the FRN and P3a in the DLD group. Additionally, theta and delta activities were not associated with the learning outcomes of children with DLD. CONCLUSION: Theta activity, which is associated with the initial processing of feedback at the level of the anterior cingulate cortex, was detected in children with developmental language disorder (DLD) but was not associated with their learning outcomes. Delta activity, which is assumed to be generated by the striatum and to be linked to elaborate processing of outcomes and adjustment of future actions, contributed to processing and learning outcomes of children with typical language development but not of children with DLD. The results provide evidence for atypical striatum-based feedback processing in children with DLD. En ligne : https://dx.doi.org/10.1186/s11689-023-09481-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders / Joseph T. GLESSNER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders Type de document : texte imprimé Auteurs : Joseph T. GLESSNER, Auteur ; Munir E. KHAN, Auteur ; Xiao CHANG, Auteur ; Yichuan LIU, Auteur ; F. George OTIENO, Auteur ; Maria LEMMA, Auteur ; Isabella SLABY, Auteur ; Heather HAIN, Auteur ; Frank MENTCH, Auteur ; Jin LI, Auteur ; Charlly KAO, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Michael E. MARCH, Auteur ; John CONNOLLY, Auteur ; Hakon HAKONARSON, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/genetics  DNA Copy Number Variations/genetics  Genetic Predisposition to Disease  Genome-Wide Association Study  Receptors, Metabotropic Glutamate/genetics  Attention-deficit/hyperactivity disorder  Autism  Copy number variation  Genetic association study  Metabotropic glutamate receptors  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs), such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are examples of complex and partially overlapping phenotypes that often lack definitive corroborating genetic information. ADHD and ASD have complex genetic associations implicated by rare recurrent copy number variations (CNVs). Both of these NDDs have been shown to share similar biological etiologies as well as genetic pleiotropy. METHODS: Platforms aimed at investigating genetic-based associations, such as high-density microarray technologies, have been groundbreaking techniques in the field of complex diseases, aimed at elucidating the underlying disease biology. Previous studies have uncovered CNVs associated with genes within shared candidate genomic networks, including glutamate receptor genes, across multiple different NDDs. To examine shared biological pathways across two of the most common NDDs, we investigated CNVs across 15,689 individuals with ADHD (n = 7920), ASD (n = 4318), or both (n = 3,416), as well as 19,993 controls. Cases and controls were matched by genotype array (i.e., Illumina array versions). Three case-control association studies each calculated and compared the observed vs. expected frequency of CNVs across individual genes, loci, pathways, and gene networks. Quality control measures of confidence in CNV-calling, prior to association analyses, included visual inspection of genotype and hybridization intensity. RESULTS: Here, we report results from CNV analysis in search for individual genes, loci, pathways, and gene networks. To extend our previous observations implicating a key role of the metabotropic glutamate receptor (mGluR) network in both ADHD and autism, we exhaustively queried patients with ASD and/or ADHD for CNVs associated with the 273 genomic regions of interest within the mGluR gene network (genes with one or two degrees protein-protein interaction with mGluR 1-8 genes). Among CNVs in mGluR network genes, we uncovered CNTN4 deletions enriched in NDD cases (P = 3.22E - 26, OR = 2.49). Additionally, we uncovered PRLHR deletions in 40 ADHD cases and 12 controls (P = 5.26E - 13, OR = 8.45) as well as clinically diagnostic relevant 22q11.2 duplications and 16p11.2 duplications in 23 ADHD + ASD cases and 9 controls (P = 4.08E - 13, OR = 15.05) and 22q11.2 duplications in 34 ADHD + ASD cases and 51 controls (P = 9.21E - 9, OR = 3.93); those control samples were not with previous 22qDS diagnosis in their EHR records. CONCLUSION: Together, these results suggest that disruption in neuronal cell-adhesion pathways confers significant risk to NDDs and showcase that rare recurrent CNVs in CNTN4, 22q11.2, and 16p11.2 are overrepresented in NDDs that constitute patients predominantly suffering from ADHD and ASD. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02286817 First Posted: 10 November 14, ClinicalTrials.gov Identifier: NCT02777931 first posted: 19 May 2016, ClinicalTrials.gov Identifier: NCT03006367 first posted: 30 December 2016, ClinicalTrials.gov Identifier: NCT02895906 first posted: 12 September 2016. En ligne : https://dx.doi.org/10.1186/s11689-023-09483-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders [texte imprimé] / Joseph T. GLESSNER, Auteur ; Munir E. KHAN, Auteur ; Xiao CHANG, Auteur ; Yichuan LIU, Auteur ; F. George OTIENO, Auteur ; Maria LEMMA, Auteur ; Isabella SLABY, Auteur ; Heather HAIN, Auteur ; Frank MENTCH, Auteur ; Jin LI, Auteur ; Charlly KAO, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Michael E. MARCH, Auteur ; John CONNOLLY, Auteur ; Hakon HAKONARSON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Autism Spectrum Disorder/genetics  DNA Copy Number Variations/genetics  Genetic Predisposition to Disease  Genome-Wide Association Study  Receptors, Metabotropic Glutamate/genetics  Attention-deficit/hyperactivity disorder  Autism  Copy number variation  Genetic association study  Metabotropic glutamate receptors  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs), such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are examples of complex and partially overlapping phenotypes that often lack definitive corroborating genetic information. ADHD and ASD have complex genetic associations implicated by rare recurrent copy number variations (CNVs). Both of these NDDs have been shown to share similar biological etiologies as well as genetic pleiotropy. METHODS: Platforms aimed at investigating genetic-based associations, such as high-density microarray technologies, have been groundbreaking techniques in the field of complex diseases, aimed at elucidating the underlying disease biology. Previous studies have uncovered CNVs associated with genes within shared candidate genomic networks, including glutamate receptor genes, across multiple different NDDs. To examine shared biological pathways across two of the most common NDDs, we investigated CNVs across 15,689 individuals with ADHD (n = 7920), ASD (n = 4318), or both (n = 3,416), as well as 19,993 controls. Cases and controls were matched by genotype array (i.e., Illumina array versions). Three case-control association studies each calculated and compared the observed vs. expected frequency of CNVs across individual genes, loci, pathways, and gene networks. Quality control measures of confidence in CNV-calling, prior to association analyses, included visual inspection of genotype and hybridization intensity. RESULTS: Here, we report results from CNV analysis in search for individual genes, loci, pathways, and gene networks. To extend our previous observations implicating a key role of the metabotropic glutamate receptor (mGluR) network in both ADHD and autism, we exhaustively queried patients with ASD and/or ADHD for CNVs associated with the 273 genomic regions of interest within the mGluR gene network (genes with one or two degrees protein-protein interaction with mGluR 1-8 genes). Among CNVs in mGluR network genes, we uncovered CNTN4 deletions enriched in NDD cases (P = 3.22E - 26, OR = 2.49). Additionally, we uncovered PRLHR deletions in 40 ADHD cases and 12 controls (P = 5.26E - 13, OR = 8.45) as well as clinically diagnostic relevant 22q11.2 duplications and 16p11.2 duplications in 23 ADHD + ASD cases and 9 controls (P = 4.08E - 13, OR = 15.05) and 22q11.2 duplications in 34 ADHD + ASD cases and 51 controls (P = 9.21E - 9, OR = 3.93); those control samples were not with previous 22qDS diagnosis in their EHR records. CONCLUSION: Together, these results suggest that disruption in neuronal cell-adhesion pathways confers significant risk to NDDs and showcase that rare recurrent CNVs in CNTN4, 22q11.2, and 16p11.2 are overrepresented in NDDs that constitute patients predominantly suffering from ADHD and ASD. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02286817 First Posted: 10 November 14, ClinicalTrials.gov Identifier: NCT02777931 first posted: 19 May 2016, ClinicalTrials.gov Identifier: NCT03006367 first posted: 30 December 2016, ClinicalTrials.gov Identifier: NCT02895906 first posted: 12 September 2016. En ligne : https://dx.doi.org/10.1186/s11689-023-09483-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects / Emma EVERAERT in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects Type de document : texte imprimé Auteurs : Emma EVERAERT, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Iris S. SELTEN, Auteur ; Martijn G. SLIEKER, Auteur ; Frank WIJNEN, Auteur ; Tessel D. BOERMA, Auteur ; Michiel L. HOUBEN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Humans  Child, Preschool  Child  DiGeorge Syndrome/complications  Prospective Studies  Executive Function  Cognition  Attention  22q11.2 deletion syndrome  22q11DS  Congenital heart defect  DiGeorge syndrome  Executive functioning  Selective attention  Velocardiofacial syndrome  Working memory  authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. METHODS: All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. RESULTS: Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. CONCLUSION: To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy. En ligne : https://dx.doi.org/10.1186/s11689-023-09484-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects [texte imprimé] / Emma EVERAERT, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Iris S. SELTEN, Auteur ; Martijn G. SLIEKER, Auteur ; Frank WIJNEN, Auteur ; Tessel D. BOERMA, Auteur ; Michiel L. HOUBEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adolescent  Humans  Child, Preschool  Child  DiGeorge Syndrome/complications  Prospective Studies  Executive Function  Cognition  Attention  22q11.2 deletion syndrome  22q11DS  Congenital heart defect  DiGeorge syndrome  Executive functioning  Selective attention  Velocardiofacial syndrome  Working memory  authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. METHODS: All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. RESULTS: Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. CONCLUSION: To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy. En ligne : https://dx.doi.org/10.1186/s11689-023-09484-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery / Rowena NG in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery Type de document : texte imprimé Auteurs : Rowena NG, Auteur ; Allison KALINOUSKY, Auteur ; Jacqueline HARRIS, Auteur Langues : Anglais (eng) Mots-clés : Epigenesis, Genetic  Cognition  Behavior  Cognition  Epigenetics  Neurodevelopment Index. décimale : PER Périodiques Résumé : Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes. These disorders almost universally have cognitive dysfunction and behavioral issues as core features. Here, we review what is known about the neurodevelopmental phenotypes of some key examples of these disorders divided into categories based on the underlying function of the affected protein. Understanding these Mendelian disorders of the epigenetic machinery can illuminate the role of epigenetic regulation in typical brain function and can lead to future therapies and better management for a host of neurodevelopmental and neuropsychological disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09482-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery [texte imprimé] / Rowena NG, Auteur ; Allison KALINOUSKY, Auteur ; Jacqueline HARRIS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Epigenesis, Genetic  Cognition  Behavior  Cognition  Epigenetics  Neurodevelopment Index. décimale : PER Périodiques Résumé : Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes. These disorders almost universally have cognitive dysfunction and behavioral issues as core features. Here, we review what is known about the neurodevelopmental phenotypes of some key examples of these disorders divided into categories based on the underlying function of the affected protein. Understanding these Mendelian disorders of the epigenetic machinery can illuminate the role of epigenetic regulation in typical brain function and can lead to future therapies and better management for a host of neurodevelopmental and neuropsychological disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09482-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Understanding the prevalence and manifestation of anxiety and other socio-emotional and behavioural difficulties in children with Developmental Language Disorder / Annabel BURNLEY in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Understanding the prevalence and manifestation of anxiety and other socio-emotional and behavioural difficulties in children with Developmental Language Disorder Type de document : texte imprimé Auteurs : Annabel BURNLEY, Auteur ; Michelle ST CLAIR, Auteur ; Rachael BEDFORD, Auteur ; Yvonne WREN, Auteur ; Charlotte DACK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Prevalence  Case-Control Studies  Emotions  Anxiety/complications/epidemiology  Language Development Disorders/complications/epidemiology/psychology  Anxiety  Children  Developmental Language Disorder  Emotion regulation  Parents  Socio-emotional behaviour  Specific Language Impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: It is well-documented that children with Developmental Language Disorder (DLD) have a higher likelihood of experiencing anxiety, as well as other socio-emotional and behavioural (SEB) difficulties. Despite this, there is little consensus as to how these difficulties manifest. This study aims to understand the prevalence of broader SEB difficulties and anxiety, informing intervention development by understanding the relationships between them. METHODS: A mixed-methods, case-control study was conducted. First, an online survey was completed by 107 parents of either children with DLD ("DLD sample"; n = 57) or typically developing children ("typical sample"; n = 50), aged 6-12 years old. Binary SEB statements informed by previous qualitative work (e.g. "my child requires routine/sameness"; "my child has frequent tantrums") provided an insight into the prevalence of SEB difficulties in both DLD and typical samples. Validated measures of anxiety, emotion regulation, intolerance of uncertainty, insistence on sameness, family stress and coping mechanisms were also collected. Correlation and mediation analyses were run using these validated measures to understand the manifestation of anxiety in children with DLD in more detail. Qualitative interviews were then carried out with a select panel of survey respondents (n = 4). RESULTS: The DLD sample scored significantly higher on all binary SEB statements than the typical sample: experiencing anxiety (80.7%, p < .05), requiring routine and sameness (75.4%, p < .001) and emotional dysregulation (75.4%; p < .001) were the most common difficulties reported for children with DLD. Using the validated scales, family stress and coping mechanisms were found to only correlate with the manifestation of anxiety in the typical group, not the DLD group. "Intolerance of uncertainty" and "insistence on sameness" were found to fully mediate the relationship between DLD diagnosis and symptoms of anxiety. Parent's interviews provided contextual support for the analysis, as well as highlighting sensory sensitivities as a focus for future research. CONCLUSIONS: Parents of children with DLD appear to cope well with their children's complex SEB needs. Intervention focussing on intolerance of uncertainty may help the management of difficulties with anxiety. Behaviours such as insistence on sameness should be investigated further, as potential indicators for anxiety amongst children with DLD. En ligne : https://dx.doi.org/10.1186/s11689-023-09486-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Understanding the prevalence and manifestation of anxiety and other socio-emotional and behavioural difficulties in children with Developmental Language Disorder [texte imprimé] / Annabel BURNLEY, Auteur ; Michelle ST CLAIR, Auteur ; Rachael BEDFORD, Auteur ; Yvonne WREN, Auteur ; Charlotte DACK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Prevalence  Case-Control Studies  Emotions  Anxiety/complications/epidemiology  Language Development Disorders/complications/epidemiology/psychology  Anxiety  Children  Developmental Language Disorder  Emotion regulation  Parents  Socio-emotional behaviour  Specific Language Impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: It is well-documented that children with Developmental Language Disorder (DLD) have a higher likelihood of experiencing anxiety, as well as other socio-emotional and behavioural (SEB) difficulties. Despite this, there is little consensus as to how these difficulties manifest. This study aims to understand the prevalence of broader SEB difficulties and anxiety, informing intervention development by understanding the relationships between them. METHODS: A mixed-methods, case-control study was conducted. First, an online survey was completed by 107 parents of either children with DLD ("DLD sample"; n = 57) or typically developing children ("typical sample"; n = 50), aged 6-12 years old. Binary SEB statements informed by previous qualitative work (e.g. "my child requires routine/sameness"; "my child has frequent tantrums") provided an insight into the prevalence of SEB difficulties in both DLD and typical samples. Validated measures of anxiety, emotion regulation, intolerance of uncertainty, insistence on sameness, family stress and coping mechanisms were also collected. Correlation and mediation analyses were run using these validated measures to understand the manifestation of anxiety in children with DLD in more detail. Qualitative interviews were then carried out with a select panel of survey respondents (n = 4). RESULTS: The DLD sample scored significantly higher on all binary SEB statements than the typical sample: experiencing anxiety (80.7%, p < .05), requiring routine and sameness (75.4%, p < .001) and emotional dysregulation (75.4%; p < .001) were the most common difficulties reported for children with DLD. Using the validated scales, family stress and coping mechanisms were found to only correlate with the manifestation of anxiety in the typical group, not the DLD group. "Intolerance of uncertainty" and "insistence on sameness" were found to fully mediate the relationship between DLD diagnosis and symptoms of anxiety. Parent's interviews provided contextual support for the analysis, as well as highlighting sensory sensitivities as a focus for future research. CONCLUSIONS: Parents of children with DLD appear to cope well with their children's complex SEB needs. Intervention focussing on intolerance of uncertainty may help the management of difficulties with anxiety. Behaviours such as insistence on sameness should be investigated further, as potential indicators for anxiety amongst children with DLD. En ligne : https://dx.doi.org/10.1186/s11689-023-09486-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis / Ana A. FRANCISCO in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) 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 [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

The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records / Maria NIARCHOU in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records Type de document : texte imprimé Auteurs : Maria NIARCHOU, Auteur ; Tyne MILLER-FLEMING, Auteur ; Beth A. MALOW, Auteur ; Lea K. DAVIS, Auteur Langues : Anglais (eng) Mots-clés : Male  Female  Humans  Autistic Disorder/epidemiology/genetics  Electronic Health Records  Multifactorial Inheritance  Phenotype  Neoplasms  Autism  PheWAS  Polygenic score Index. décimale : PER Périodiques Résumé : BACKGROUND: Although polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting. METHODS: We computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt's de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries. RESULTS: Seven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10(-5)) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10(-10)), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10(-9)), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10(-5)). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood. DISCUSSION: Our findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers. CONCLUSIONS: Our study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings. En ligne : https://dx.doi.org/10.1186/s11689-023-09485-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records [texte imprimé] / Maria NIARCHOU, Auteur ; Tyne MILLER-FLEMING, Auteur ; Beth A. MALOW, Auteur ; Lea K. DAVIS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Male  Female  Humans  Autistic Disorder/epidemiology/genetics  Electronic Health Records  Multifactorial Inheritance  Phenotype  Neoplasms  Autism  PheWAS  Polygenic score Index. décimale : PER Périodiques Résumé : BACKGROUND: Although polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting. METHODS: We computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt's de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries. RESULTS: Seven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10(-5)) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10(-10)), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10(-9)), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10(-5)). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood. DISCUSSION: Our findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers. CONCLUSIONS: Our study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings. En ligne : https://dx.doi.org/10.1186/s11689-023-09485-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Correction: Understanding the prevalence and manifestation of anxiety and other socio‑emotional and behavioural difficulties in children with Developmental Language Disorder / Annabel BURNLEY in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Correction: Understanding the prevalence and manifestation of anxiety and other socio‑emotional and behavioural difficulties in children with Developmental Language Disorder Type de document : texte imprimé Auteurs : Annabel BURNLEY, Auteur ; Michelle ST CLAIR, Auteur ; Rachael BEDFORD, Auteur ; Yvonne WREN, Auteur ; Charlotte DACK, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09488-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Correction: Understanding the prevalence and manifestation of anxiety and other socio‑emotional and behavioural difficulties in children with Developmental Language Disorder [texte imprimé] / Annabel BURNLEY, Auteur ; Michelle ST CLAIR, Auteur ; Rachael BEDFORD, Auteur ; Yvonne WREN, Auteur ; Charlotte DACK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09488-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Sleep disturbances are associated with irritability in ASD children with sensory sensitivities / Alona MOLCHO-HAIMOVICH in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Sleep disturbances are associated with irritability in ASD children with sensory sensitivities Type de document : texte imprimé Auteurs : Alona MOLCHO-HAIMOVICH, Auteur ; Liat TIKOTZKY, Auteur ; Gal MEIRI, Auteur ; Michal ILAN, Auteur ; Analya MICHAELOVSKI, Auteur ; Hen SCHTAIERMAN, Auteur ; Hava M. GOLAN, Auteur ; Yair SADAKA, Auteur ; Idan MENASHE, Auteur ; Ilan DINSTEIN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Child, Preschool  Sleep Wake Disorders/complications/epidemiology  Autism Spectrum Disorder/complications Index. décimale : PER Périodiques Résumé : BACKGROUND: Parent reports suggest that 44-84% of children with ASD exhibit sleep disturbances that are of clinical concern. Previous studies have reported that, in children with ASD, the severity of sleep disturbances is associated with the severity of either sensory problems or aberrant behaviors, but none have performed combined analyses with measures of both sensory and aberrant behaviors symptom domains from the same children. METHODS: We examined parent reports of 237 children with ASD, 1.4-8.7 years old, using the child sleep habits questionnaire (CSHQ), sensory profile (SP), and aberrant behaviors checklist (ABC). RESULTS: The analyses revealed that sleep disturbances were most strongly associated with SP sensory sensitivity and ABC irritability scores. Together these scores explained 35% of the variance in total CSHQ scores. Moreover, sensory sensitivity scores moderated the association between irritability and sleep disturbances, indicating that sleep disturbances were significantly associated with irritability only in children with moderate to severe sensory sensitivities. CONCLUSION: We suggest that the three symptom domains may interact and exacerbate each other such that successful intervention in one symptom domain may have positive impact on the others. Further intervention studies testing this hypothesis are highly warranted. En ligne : https://dx.doi.org/10.1186/s11689-023-09491-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Sleep disturbances are associated with irritability in ASD children with sensory sensitivities [texte imprimé] / Alona MOLCHO-HAIMOVICH, Auteur ; Liat TIKOTZKY, Auteur ; Gal MEIRI, Auteur ; Michal ILAN, Auteur ; Analya MICHAELOVSKI, Auteur ; Hen SCHTAIERMAN, Auteur ; Hava M. GOLAN, Auteur ; Yair SADAKA, Auteur ; Idan MENASHE, Auteur ; Ilan DINSTEIN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Child, Preschool  Sleep Wake Disorders/complications/epidemiology  Autism Spectrum Disorder/complications Index. décimale : PER Périodiques Résumé : BACKGROUND: Parent reports suggest that 44-84% of children with ASD exhibit sleep disturbances that are of clinical concern. Previous studies have reported that, in children with ASD, the severity of sleep disturbances is associated with the severity of either sensory problems or aberrant behaviors, but none have performed combined analyses with measures of both sensory and aberrant behaviors symptom domains from the same children. METHODS: We examined parent reports of 237 children with ASD, 1.4-8.7 years old, using the child sleep habits questionnaire (CSHQ), sensory profile (SP), and aberrant behaviors checklist (ABC). RESULTS: The analyses revealed that sleep disturbances were most strongly associated with SP sensory sensitivity and ABC irritability scores. Together these scores explained 35% of the variance in total CSHQ scores. Moreover, sensory sensitivity scores moderated the association between irritability and sleep disturbances, indicating that sleep disturbances were significantly associated with irritability only in children with moderate to severe sensory sensitivities. CONCLUSION: We suggest that the three symptom domains may interact and exacerbate each other such that successful intervention in one symptom domain may have positive impact on the others. Further intervention studies testing this hypothesis are highly warranted. En ligne : https://dx.doi.org/10.1186/s11689-023-09491-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) / Jorrit TJEERTES in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) Type de document : texte imprimé Auteurs : Jorrit TJEERTES, Auteur ; Carlos A. BACINO, Auteur ; Terry Jo BICHELL, Auteur ; Lynne M. BIRD, Auteur ; Mariana BUSTAMANTE, Auteur ; Rebecca CREAN, Auteur ; Shafali JESTE, Auteur ; Robert W. KOMOROWSKI, Auteur ; Michelle L. KRISHNAN, Auteur ; Meghan T. MILLER, Auteur ; David NOBBS, Auteur ; Cesar OCHOA-LUBINOFF, Auteur ; Kimberly A. PARKERSON, Auteur ; Alexander ROTENBERG, Auteur ; Anjali SADHWANI, Auteur ; Mark D. SHEN, Auteur ; Lisa SQUASSANTE, Auteur ; Wen-Hann TAN, Auteur ; Brenda VINCENZI, Auteur ; Anne C. WHEELER, Auteur ; Joerg F. HIPP, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/complications  Prospective Studies  Pandemics  covid-19  Electroencephalography  Angelman syndrome  Clinical outcome assessments  Clinical trials  Digital health technology  Eeg  Endpoint development  Natural history  Sleep  UBE3A  for clinical trials in Angelman syndrome sponsored by F. Hoffmann-La Roche Ltd.  and Ionis Pharmaceuticals Inc. He is also the Principal Investigator for research  trials in achondroplasia sponsored by BioMarin, Pfizer Pharmaceuticals, and  Ascendis Pharmaceuticals. He is a co-investigator in the Undiagnosed Research  Network grant sponsored by the NIH. He is a consultant for Best Doctors Inc. TJB  has been a paid consultant for F. Hoffmann-La Roche Ltd. LMB has been a paid  consultant for F. Hoffmann-La Roche Ltd. and Ionis Pharmaceuticals Inc. regarding  clinical trial design and is/has been a principal investigator on trials  sponsored by F. Hoffmann-La Roche Ltd., Ionis Pharmaceuticals Inc., Biogen, and  Ovid Therapeutics. MB is an employee of F. Hoffmann-La Roche Ltd. RC is an  employee of Ionis Pharmaceuticals Inc. SJ serves as a consultant for Roche  Pharmaceuticals. RWK was an employee of Biogen and is an employee of Ionis  Pharmaceuticals Inc. MLK was an employee of F. Hoffmann-La Roche Ltd. COL was a  principal investigator or co-investigator for clinical trials in Angelman  syndrome sponsored by Ovid, F. Hoffmann-La Roche Ltd., GeneTx, Biogen, and Ionis  Pharmaceuticals Inc. All funds from clinical trials were paid to Rush University  Medical Center and COL did not keep any personal funds. MTM was an employee of F.  Hoffmann-La Roche Ltd. DN is an employee of F. Hoffmann-La Roche Ltd. KP was an  employee of Biogen. AR has been a paid consultant and has received research  support from F. Hoffmann-La Roche Ltd. He has also received recent research  support from BioMarin, CRE Medical, Encoded, LouLou Foundation, Neuroelectrics,  SSADH Foundation, and Takeda. He is co-founder and has equity in PrevEp Inc. and  Galibra Inc. ACW has been a paid consultant for F. Hoffmann-La Roche Ltd. AS has  been a paid consultant for F. Hoffmann-La Roche Ltd. MDS was Principal  Investigator or co-investigator for clinical trials in Angelman syndrome  sponsored by F. Hoffmann-La Roche Ltd., Biogen, and Ionis Pharmaceuticals Inc.  and served as a consultant for Ionis Pharmaceuticals Inc. during the design of  the trial before study startup. All funds were paid to the University of North  Carolina, and MDS did not receive any personal funds. LS is an employee of F.  Hoffmann-La Roche Ltd. WHT was a paid consultant for F. Hoffmann-La Roche Ltd. BV  is an employee of F. Hoffmann-La Roche Ltd. AW was a paid consultant for F.  Hoffmann-La Roche Ltd. And Ovid. JFH is an employee of F. Hoffmann-La Roche Ltd.  EBK has received funding from Acadia, Alcobra, AMO, Asuragen, Avexis, Biogen,  BioMarin, Cydan, Erydel Fulcrum, GeneTx, GW, Ionis Pharmaceuticals Inc., Jaguar,  Lumos, Marinus, Neuren, Neurogene, Neurotrope, Novartis, Orphazyme, Ovid,  Retrophin, Roche, Seaside Therapeutics, Taysha, Tetra, Ultragenyx, Yamo, Zynerba,  and Vtesse/Sucampo/Mallinckrodt Pharmaceuticals, to consult on trial design or  run clinical or lab validation trials in genetic neurodevelopmental or  neurodegenerative disorders, all of which is directed to RUMC in support of rare  disease programs  EBK receives no personal funds and RUMC has no relevant  financial interest in any of the commercial entities listed. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms. METHODS: Fifty-five individuals with AS (aged < 5 years: n = 16, 5-12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1-12 years) were enrolled across six USA sites. Several clinical outcome assessments and digital health technologies were tested, together with overnight 19-lead electroencephalography (EEG) and additional polysomnography (PSG) sensors. Participants were assessed at baseline (Clinic Visit 1), 12 months later (Clinic Visit 2), and during intermittent home visits. RESULTS: The participants achieved high completion rates for the clinical outcome assessments (adherence: 89-100% [Clinic Visit 1]; 76-91% [Clinic Visit 2]) and varied feasibility of and adherence to digital health technologies. The coronavirus disease 2019 (COVID-19) pandemic impacted participants' uptake of and/or adherence to some measures. It also potentially impacted the at-home PSG/EEG recordings, which were otherwise feasible. Participants achieved Bayley-III results comparable to the available natural history data, showing similar scores between individuals aged ≥ 18 and 5-12 years. Also, participants without a deletion generally scored higher on most clinical outcome assessments than participants with a deletion. Furthermore, the observed AS EEG phenotype of excess delta-band power was consistent with prior reports. CONCLUSIONS: Although feasible clinical outcome assessments and digital health technologies are reported herein, further improved assessments of meaningful AS change are needed. Despite the COVID-19 pandemic, remote assessments facilitated high adherence levels and the results suggested that at-home PSG/EEG might be a feasible alternative to the in-clinic EEG assessments. Taken altogether, the combination of in-clinic/at-home clinical outcome assessments, digital health technologies, and PSG/EEG may improve protocol adherence, reduce patient burden, and optimize study outcomes in AS and other rare disease populations. En ligne : https://dx.doi.org/10.1186/s11689-023-09494-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) [texte imprimé] / Jorrit TJEERTES, Auteur ; Carlos A. BACINO, Auteur ; Terry Jo BICHELL, Auteur ; Lynne M. BIRD, Auteur ; Mariana BUSTAMANTE, Auteur ; Rebecca CREAN, Auteur ; Shafali JESTE, Auteur ; Robert W. KOMOROWSKI, Auteur ; Michelle L. KRISHNAN, Auteur ; Meghan T. MILLER, Auteur ; David NOBBS, Auteur ; Cesar OCHOA-LUBINOFF, Auteur ; Kimberly A. PARKERSON, Auteur ; Alexander ROTENBERG, Auteur ; Anjali SADHWANI, Auteur ; Mark D. SHEN, Auteur ; Lisa SQUASSANTE, Auteur ; Wen-Hann TAN, Auteur ; Brenda VINCENZI, Auteur ; Anne C. WHEELER, Auteur ; Joerg F. HIPP, Auteur ; Elizabeth BERRY-KRAVIS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Angelman Syndrome/complications  Prospective Studies  Pandemics  covid-19  Electroencephalography  Angelman syndrome  Clinical outcome assessments  Clinical trials  Digital health technology  Eeg  Endpoint development  Natural history  Sleep  UBE3A  for clinical trials in Angelman syndrome sponsored by F. Hoffmann-La Roche Ltd.  and Ionis Pharmaceuticals Inc. He is also the Principal Investigator for research  trials in achondroplasia sponsored by BioMarin, Pfizer Pharmaceuticals, and  Ascendis Pharmaceuticals. He is a co-investigator in the Undiagnosed Research  Network grant sponsored by the NIH. He is a consultant for Best Doctors Inc. TJB  has been a paid consultant for F. Hoffmann-La Roche Ltd. LMB has been a paid  consultant for F. Hoffmann-La Roche Ltd. and Ionis Pharmaceuticals Inc. regarding  clinical trial design and is/has been a principal investigator on trials  sponsored by F. Hoffmann-La Roche Ltd., Ionis Pharmaceuticals Inc., Biogen, and  Ovid Therapeutics. MB is an employee of F. Hoffmann-La Roche Ltd. RC is an  employee of Ionis Pharmaceuticals Inc. SJ serves as a consultant for Roche  Pharmaceuticals. RWK was an employee of Biogen and is an employee of Ionis  Pharmaceuticals Inc. MLK was an employee of F. Hoffmann-La Roche Ltd. COL was a  principal investigator or co-investigator for clinical trials in Angelman  syndrome sponsored by Ovid, F. Hoffmann-La Roche Ltd., GeneTx, Biogen, and Ionis  Pharmaceuticals Inc. All funds from clinical trials were paid to Rush University  Medical Center and COL did not keep any personal funds. MTM was an employee of F.  Hoffmann-La Roche Ltd. DN is an employee of F. Hoffmann-La Roche Ltd. KP was an  employee of Biogen. AR has been a paid consultant and has received research  support from F. Hoffmann-La Roche Ltd. He has also received recent research  support from BioMarin, CRE Medical, Encoded, LouLou Foundation, Neuroelectrics,  SSADH Foundation, and Takeda. He is co-founder and has equity in PrevEp Inc. and  Galibra Inc. ACW has been a paid consultant for F. Hoffmann-La Roche Ltd. AS has  been a paid consultant for F. Hoffmann-La Roche Ltd. MDS was Principal  Investigator or co-investigator for clinical trials in Angelman syndrome  sponsored by F. Hoffmann-La Roche Ltd., Biogen, and Ionis Pharmaceuticals Inc.  and served as a consultant for Ionis Pharmaceuticals Inc. during the design of  the trial before study startup. All funds were paid to the University of North  Carolina, and MDS did not receive any personal funds. LS is an employee of F.  Hoffmann-La Roche Ltd. WHT was a paid consultant for F. Hoffmann-La Roche Ltd. BV  is an employee of F. Hoffmann-La Roche Ltd. AW was a paid consultant for F.  Hoffmann-La Roche Ltd. And Ovid. JFH is an employee of F. Hoffmann-La Roche Ltd.  EBK has received funding from Acadia, Alcobra, AMO, Asuragen, Avexis, Biogen,  BioMarin, Cydan, Erydel Fulcrum, GeneTx, GW, Ionis Pharmaceuticals Inc., Jaguar,  Lumos, Marinus, Neuren, Neurogene, Neurotrope, Novartis, Orphazyme, Ovid,  Retrophin, Roche, Seaside Therapeutics, Taysha, Tetra, Ultragenyx, Yamo, Zynerba,  and Vtesse/Sucampo/Mallinckrodt Pharmaceuticals, to consult on trial design or  run clinical or lab validation trials in genetic neurodevelopmental or  neurodegenerative disorders, all of which is directed to RUMC in support of rare  disease programs  EBK receives no personal funds and RUMC has no relevant  financial interest in any of the commercial entities listed. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms. METHODS: Fifty-five individuals with AS (aged < 5 years: n = 16, 5-12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1-12 years) were enrolled across six USA sites. Several clinical outcome assessments and digital health technologies were tested, together with overnight 19-lead electroencephalography (EEG) and additional polysomnography (PSG) sensors. Participants were assessed at baseline (Clinic Visit 1), 12 months later (Clinic Visit 2), and during intermittent home visits. RESULTS: The participants achieved high completion rates for the clinical outcome assessments (adherence: 89-100% [Clinic Visit 1]; 76-91% [Clinic Visit 2]) and varied feasibility of and adherence to digital health technologies. The coronavirus disease 2019 (COVID-19) pandemic impacted participants' uptake of and/or adherence to some measures. It also potentially impacted the at-home PSG/EEG recordings, which were otherwise feasible. Participants achieved Bayley-III results comparable to the available natural history data, showing similar scores between individuals aged ≥ 18 and 5-12 years. Also, participants without a deletion generally scored higher on most clinical outcome assessments than participants with a deletion. Furthermore, the observed AS EEG phenotype of excess delta-band power was consistent with prior reports. CONCLUSIONS: Although feasible clinical outcome assessments and digital health technologies are reported herein, further improved assessments of meaningful AS change are needed. Despite the COVID-19 pandemic, remote assessments facilitated high adherence levels and the results suggested that at-home PSG/EEG might be a feasible alternative to the in-clinic EEG assessments. Taken altogether, the combination of in-clinic/at-home clinical outcome assessments, digital health technologies, and PSG/EEG may improve protocol adherence, reduce patient burden, and optimize study outcomes in AS and other rare disease populations. En ligne : https://dx.doi.org/10.1186/s11689-023-09494-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome / Katilynne CROOM in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome Type de document : texte imprimé Auteurs : Katilynne CROOM, Auteur ; Jeffrey A. RUMSCHLAG, Auteur ; Michael A. ERICKSON, Auteur ; Devin K. BINDER, Auteur ; Khaleel A. RAZAK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Adult  Animals  Mice  Fragile X Syndrome/complications  Cross-Sectional Studies  Time Perception  Disease Models, Animal  Mice, Knockout  Fragile X Mental Retardation Protein/genetics  Autism spectrum disorders  Cerebral cortex  Fragile X syndrome  Language  Neurodevelopment  Sensory hypersensitivity  Speech processing  Temporal processing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) encompass a wide array of debilitating symptoms, including sensory dysfunction and delayed language development. Auditory temporal processing is crucial for speech perception and language development. Abnormal development of temporal processing may account for the language impairments associated with ASD. Very little is known about the development of temporal processing in any animal model of ASD. METHODS: In the current study, we quantify auditory temporal processing throughout development in the Fmr1 knock-out (KO) mouse model of Fragile X Syndrome (FXS), a leading genetic cause of intellectual disability and ASD-associated behaviors. Using epidural electrodes in awake and freely moving wildtype (WT) and KO mice, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (gap-ASSR) paradigm. Mice were recorded at three different ages in a cross sectional design: postnatal (p)21, p30 and p60. Recordings were obtained from both auditory and frontal cortices. The gap-ASSR requires underlying neural generators to synchronize responses to gaps of different widths embedded in noise, providing an objective measure of temporal processing across genotypes and age groups. RESULTS: We present evidence that the frontal, but not auditory, cortex shows significant temporal processing deficits at p21 and p30, with poor ability to phase lock to rapid gaps in noise. Temporal processing was similar in both genotypes in adult mice. ERP amplitudes were larger in Fmr1 KO mice in both auditory and frontal cortex, consistent with ERP data in humans with FXS. CONCLUSIONS: These data indicate cortical region-specific delays in temporal processing development in Fmr1 KO mice. Developmental delays in the ability of frontal cortex to follow rapid changes in sounds may shape language delays in FXS, and more broadly in ASD. En ligne : https://dx.doi.org/10.1186/s11689-023-09496-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome [texte imprimé] / Katilynne CROOM, Auteur ; Jeffrey A. RUMSCHLAG, Auteur ; Michael A. ERICKSON, Auteur ; Devin K. BINDER, Auteur ; Khaleel A. RAZAK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Adult  Animals  Mice  Fragile X Syndrome/complications  Cross-Sectional Studies  Time Perception  Disease Models, Animal  Mice, Knockout  Fragile X Mental Retardation Protein/genetics  Autism spectrum disorders  Cerebral cortex  Fragile X syndrome  Language  Neurodevelopment  Sensory hypersensitivity  Speech processing  Temporal processing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) encompass a wide array of debilitating symptoms, including sensory dysfunction and delayed language development. Auditory temporal processing is crucial for speech perception and language development. Abnormal development of temporal processing may account for the language impairments associated with ASD. Very little is known about the development of temporal processing in any animal model of ASD. METHODS: In the current study, we quantify auditory temporal processing throughout development in the Fmr1 knock-out (KO) mouse model of Fragile X Syndrome (FXS), a leading genetic cause of intellectual disability and ASD-associated behaviors. Using epidural electrodes in awake and freely moving wildtype (WT) and KO mice, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (gap-ASSR) paradigm. Mice were recorded at three different ages in a cross sectional design: postnatal (p)21, p30 and p60. Recordings were obtained from both auditory and frontal cortices. The gap-ASSR requires underlying neural generators to synchronize responses to gaps of different widths embedded in noise, providing an objective measure of temporal processing across genotypes and age groups. RESULTS: We present evidence that the frontal, but not auditory, cortex shows significant temporal processing deficits at p21 and p30, with poor ability to phase lock to rapid gaps in noise. Temporal processing was similar in both genotypes in adult mice. ERP amplitudes were larger in Fmr1 KO mice in both auditory and frontal cortex, consistent with ERP data in humans with FXS. CONCLUSIONS: These data indicate cortical region-specific delays in temporal processing development in Fmr1 KO mice. Developmental delays in the ability of frontal cortex to follow rapid changes in sounds may shape language delays in FXS, and more broadly in ASD. En ligne : https://dx.doi.org/10.1186/s11689-023-09496-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder / Ryan J. SLABY in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder Type de document : texte imprimé Auteurs : Ryan J. SLABY, Auteur ; C Nikki ARRINGTON, Auteur ; Jeffrey MALINS, Auteur ; Rose A. SEVCIK, Auteur ; Kenneth R. PUGH, Auteur ; Robin MORRIS, Auteur Langues : Anglais (eng) Mots-clés : White Matter/physiopathology  Dyslexia/complications/physiopathology  Attention Deficit Disorder with Hyperactivity/complications/physiopathology  Analysis of Variance  Attention  Humans  Child  Reading  Executive Function  Adhd  Comorbidity  Dti  Dyslexia  Fa  Slf  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders. Individuals with DD or ADHD have both been shown to have deficits in white matter tracts associated with reading and attentional control networks. However, white matter diffusivity in individuals comorbid with both DD and ADHD (DD + ADHD) has not been specifically explored. METHODS: Participants were 3(rd) and 4(th) graders (age range = 7 to 11 years; SD = 0.69) from three diagnostic groups ((DD (n = 40), DD + ADHD (n = 22), and typical developing (TD) (n = 20)). Behavioral measures of reading and attention alongside measures of white matter diffusivity were collected for all participants. RESULTS: DD + ADHD and TD groups differed in mean fractional anisotropy (FA) for the left and right Superior Longitudinal Fasciculus (SLF)-Parietal Terminations and SLF-Temporal Terminations. Mean FA for the DD group across these SLF tracts fell between the lower DD + ADHD and higher TD averages. No differences in mean diffusivity nor significant brain-behavior relations were found. CONCLUSIONS: Findings suggest that WM diffusivity in the SLF increases along a continuum across DD + ADHD, DD, and TD. En ligne : https://dx.doi.org/10.1186/s11689-023-09495-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder [texte imprimé] / Ryan J. SLABY, Auteur ; C Nikki ARRINGTON, Auteur ; Jeffrey MALINS, Auteur ; Rose A. SEVCIK, Auteur ; Kenneth R. PUGH, Auteur ; Robin MORRIS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : White Matter/physiopathology  Dyslexia/complications/physiopathology  Attention Deficit Disorder with Hyperactivity/complications/physiopathology  Analysis of Variance  Attention  Humans  Child  Reading  Executive Function  Adhd  Comorbidity  Dti  Dyslexia  Fa  Slf  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders. Individuals with DD or ADHD have both been shown to have deficits in white matter tracts associated with reading and attentional control networks. However, white matter diffusivity in individuals comorbid with both DD and ADHD (DD + ADHD) has not been specifically explored. METHODS: Participants were 3(rd) and 4(th) graders (age range = 7 to 11 years; SD = 0.69) from three diagnostic groups ((DD (n = 40), DD + ADHD (n = 22), and typical developing (TD) (n = 20)). Behavioral measures of reading and attention alongside measures of white matter diffusivity were collected for all participants. RESULTS: DD + ADHD and TD groups differed in mean fractional anisotropy (FA) for the left and right Superior Longitudinal Fasciculus (SLF)-Parietal Terminations and SLF-Temporal Terminations. Mean FA for the DD group across these SLF tracts fell between the lower DD + ADHD and higher TD averages. No differences in mean diffusivity nor significant brain-behavior relations were found. CONCLUSIONS: Findings suggest that WM diffusivity in the SLF increases along a continuum across DD + ADHD, DD, and TD. En ligne : https://dx.doi.org/10.1186/s11689-023-09495-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study / Juan SONG in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study Type de document : texte imprimé Auteurs : Juan SONG, Auteur ; Yuyang YUE, Auteur ; Huiqing SUN, Auteur ; Ping CHENG, Auteur ; Falin XU, Auteur ; Bingbing LI, Auteur ; Kenan LI, Auteur ; Changlian ZHU, Auteur Langues : Anglais (eng) Mots-clés : Infant, Newborn  Infant  Humans  Child, Preschool  Child  Infant, Premature  Cohort Studies  Leukomalacia, Periventricular/complications/epidemiology/diagnosis  Cerebral Palsy/diagnosis/pathology  Epilepsy  Cerebral palsy  Head MRI  Leukomalacia  Neurodevelopmental outcomes  Newborn Index. décimale : PER Périodiques Résumé : BACKGROUND: Leukomalacia is a serious form of neonatal brain injury that often leads to neurodevelopmental impairment, and studies on neonatal leukomalacia and its long-term outcomes are lacking. The aim of this study was to analyze the clinical manifestations, imaging features, and long-term neurodevelopmental outcomes in preterm infants and term infants with leukomalacia. METHODS: Newborns diagnosed with leukomalacia by head magnetic resonance imaging (MRI) and who were admitted to intensive care units from January 2015 to June 2020 were enrolled. All infants were followed up to June 2022 (2-7 years old), and their neurodevelopmental outcomes were evaluated. The clinical data and long- term outcomes of preterm infants and term infants was analyzed by Chi-square tests. RESULTS: A total of 218 surviving infants with leukomalacia including 114 preterm infants and 104 term infants completed the follow-up. The major typesof leukomalacia on MRI were periventricular leukomalacia in the preterm group and subcortical cystic leukomalacia in the term group, respectively (χ(2) = 55.166; p < 0.001). When followed up to 2-7 years old, the incidence of neurodevelopmental impairment in the preterm group and term group was not significantly different (χ(2) = 0.917; p = 0.338). However, the incidence of cerebral palsy (CP) in the preterm group was significantly higher (χ(2) = 4.896; p = 0.027), while the incidence of intellectual disability (ID) (χ(2) = 9.445; p = 0.002), epilepsy (EP) (χ(2) = 23.049; p < 0.001), and CP combined with ID andEP (χ(2) = 4.122; p = 0.042) was significantly lower than that in the term group. CONCLUSIONS: Periventricular leukomalacia mainly occurred in preterm infants while subcortical cystic leukomalacia was commonly seen in term infants. Although the long-term neurodevelopmental outcomes of leukomalacia were both poor, preterm infants were more prone to CP, while term infants were more prone to ID, EP, and the combination of CP with ID and EP. En ligne : https://dx.doi.org/10.1186/s11689-023-09489-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study [texte imprimé] / Juan SONG, Auteur ; Yuyang YUE, Auteur ; Huiqing SUN, Auteur ; Ping CHENG, Auteur ; Falin XU, Auteur ; Bingbing LI, Auteur ; Kenan LI, Auteur ; Changlian ZHU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Infant, Newborn  Infant  Humans  Child, Preschool  Child  Infant, Premature  Cohort Studies  Leukomalacia, Periventricular/complications/epidemiology/diagnosis  Cerebral Palsy/diagnosis/pathology  Epilepsy  Cerebral palsy  Head MRI  Leukomalacia  Neurodevelopmental outcomes  Newborn Index. décimale : PER Périodiques Résumé : BACKGROUND: Leukomalacia is a serious form of neonatal brain injury that often leads to neurodevelopmental impairment, and studies on neonatal leukomalacia and its long-term outcomes are lacking. The aim of this study was to analyze the clinical manifestations, imaging features, and long-term neurodevelopmental outcomes in preterm infants and term infants with leukomalacia. METHODS: Newborns diagnosed with leukomalacia by head magnetic resonance imaging (MRI) and who were admitted to intensive care units from January 2015 to June 2020 were enrolled. All infants were followed up to June 2022 (2-7 years old), and their neurodevelopmental outcomes were evaluated. The clinical data and long- term outcomes of preterm infants and term infants was analyzed by Chi-square tests. RESULTS: A total of 218 surviving infants with leukomalacia including 114 preterm infants and 104 term infants completed the follow-up. The major typesof leukomalacia on MRI were periventricular leukomalacia in the preterm group and subcortical cystic leukomalacia in the term group, respectively (χ(2) = 55.166; p < 0.001). When followed up to 2-7 years old, the incidence of neurodevelopmental impairment in the preterm group and term group was not significantly different (χ(2) = 0.917; p = 0.338). However, the incidence of cerebral palsy (CP) in the preterm group was significantly higher (χ(2) = 4.896; p = 0.027), while the incidence of intellectual disability (ID) (χ(2) = 9.445; p = 0.002), epilepsy (EP) (χ(2) = 23.049; p < 0.001), and CP combined with ID andEP (χ(2) = 4.122; p = 0.042) was significantly lower than that in the term group. CONCLUSIONS: Periventricular leukomalacia mainly occurred in preterm infants while subcortical cystic leukomalacia was commonly seen in term infants. Although the long-term neurodevelopmental outcomes of leukomalacia were both poor, preterm infants were more prone to CP, while term infants were more prone to ID, EP, and the combination of CP with ID and EP. En ligne : https://dx.doi.org/10.1186/s11689-023-09489-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory / Samantha J. BOOTH in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory Type de document : texte imprimé Auteurs : Samantha J. BOOTH, Auteur ; Shruti GARG, Auteur ; Laura J.E. BROWN, Auteur ; Jonathan GREEN, Auteur ; Gorana POBRIC, Auteur ; Jason R. TAYLOR, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Female  Humans  Cognition  Cognitive Dysfunction/etiology  Electroencephalography  Memory, Short-Term  Neurofibromatosis 1/complications  Male  Electroencephalography (EEG)  Neurofibromatosis type 1 (NF1)  Oscillations  Oscillatory power  Phase coherence  Working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population. METHODS: We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N = 16; mean age: 13.03 years; female: n = 7) to an age/sex-matched typically developing control group (N = 16; mean age: 13.34 years; female: n = 7) using electroencephalography measured during rest and during working memory task performance. RESULTS: Relative to typically developing children, the NF1 group displayed higher resting state slow wave power and a lower peak alpha frequency. Moreover, higher theta power and frontoparietal theta phase coherence were observed in the NF1 group during working memory task performance, but these differences disappeared when controlling for baseline (resting state) activity. CONCLUSIONS: Overall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03310996 (first posted: October 16, 2017). En ligne : https://dx.doi.org/10.1186/s11689-023-09492-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory [texte imprimé] / Samantha J. BOOTH, Auteur ; Shruti GARG, Auteur ; Laura J.E. BROWN, Auteur ; Jonathan GREEN, Auteur ; Gorana POBRIC, Auteur ; Jason R. TAYLOR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adolescent  Female  Humans  Cognition  Cognitive Dysfunction/etiology  Electroencephalography  Memory, Short-Term  Neurofibromatosis 1/complications  Male  Electroencephalography (EEG)  Neurofibromatosis type 1 (NF1)  Oscillations  Oscillatory power  Phase coherence  Working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population. METHODS: We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N = 16; mean age: 13.03 years; female: n = 7) to an age/sex-matched typically developing control group (N = 16; mean age: 13.34 years; female: n = 7) using electroencephalography measured during rest and during working memory task performance. RESULTS: Relative to typically developing children, the NF1 group displayed higher resting state slow wave power and a lower peak alpha frequency. Moreover, higher theta power and frontoparietal theta phase coherence were observed in the NF1 group during working memory task performance, but these differences disappeared when controlling for baseline (resting state) activity. CONCLUSIONS: Overall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03310996 (first posted: October 16, 2017). En ligne : https://dx.doi.org/10.1186/s11689-023-09492-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis / Tono DJUWANTONO in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis Type de document : texte imprimé Auteurs : Tono DJUWANTONO, Auteur ; Jenifer Kiem AVIANI, Auteur ; Wiryawan PERMADI, Auteur ; Danny HALIM, Auteur ; Tri Hanggono ACHMAD, Auteur ; Meita DHAMAYANTI, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Humans  Male  Child, Preschool  Child  Semen  Intelligence  Problem Behavior  Language  Memory, Short-Term  Assisted reproductive treatment  Behavioral problems  Children neurodevelopment  In vitro fertilization  Intelligence quotient  Intracytoplasmic sperm injection  Motoric skills  Preschool and primary school children  Toddlers  Young adolescents Index. décimale : PER Périodiques Résumé : BACKGROUND: Subtle abnormalities in children's intelligence, motor skills, and psychology from various assisted reproductive treatments (ARTs) might be underdiagnosed. Understanding the prognosis of intelligence, motor skills, and psychology in children from ART would provide parents with reasonable expectations and enable them to plan relevant support to achieve the optimum potential in ART children. METHODS: We searched PubMed, EMBASE, Ovid, Google Scholar, and Scopus databases until April 13, 2021, to identify relevant studies. Thirty-four studies met the inclusion and exclusion criteria. The meta-analysis employed a standardized mean difference model. The outcome of this study is to compare intelligence quotient (IQ), motoric ability, and behavioral problems between all ARTs, in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) to naturally conceived (NC) children. Subdomains of intelligence based on the Cattell, Horn, and Carroll Model (CHC Model) of cognitive architecture, including fluid reasoning, short-term and working memory, processing speed, visual-spatial ability, long-term memory retrieval, and crystalized intelligence (knowledge), were evaluated and summarized in details. Motor skill was stratified into two domains: gross motoric and fine motoric. Behavioral problem was categorized as externalizing and internalizing behavior. RESULTS: Meta-analysis showed that verbal intelligence score in IVF toddlers is significantly lower than NC toddlers (p = 0.02); conversely, ICSI toddlers scored significantly higher verbal intelligence score compared to NC toddlers (p = 0.005). Toddlers born after ART had significantly lower non-verbal intelligence score (p = 0.047). IVF toddlers scored significantly lower fine motor score (p = 0.01) compared to naturally conceived toddlers. Based on parent's CBCL, NC toddlers had higher total (p = 0.01) and externalizing behavior (p = 0.001) scores  compared to ART toddlers. Evaluation of full scale IQ and all domains of intelligence in preschool and primary school children revealed that no significant differences exist between ART and NC children. Based on preschool and primary school parents' CBCL, IVF children had significantly lower externalizing behavior score compared to NC children (p = 0.04). Meta-analyses of studies on young adolescents revealed that ART young adolescents scored higher academically than their NC counterparts, including on mathematics (p < 0.00001) and reading or language (p < 0.00001). CONCLUSIONS: Despite differences in certain aspects, this finding suggests that ART is unlikely to cause negative impacts on children's neurodevelopment. En ligne : https://dx.doi.org/10.1186/s11689-023-09490-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis [texte imprimé] / Tono DJUWANTONO, Auteur ; Jenifer Kiem AVIANI, Auteur ; Wiryawan PERMADI, Auteur ; Danny HALIM, Auteur ; Tri Hanggono ACHMAD, Auteur ; Meita DHAMAYANTI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adolescent  Humans  Male  Child, Preschool  Child  Semen  Intelligence  Problem Behavior  Language  Memory, Short-Term  Assisted reproductive treatment  Behavioral problems  Children neurodevelopment  In vitro fertilization  Intelligence quotient  Intracytoplasmic sperm injection  Motoric skills  Preschool and primary school children  Toddlers  Young adolescents Index. décimale : PER Périodiques Résumé : BACKGROUND: Subtle abnormalities in children's intelligence, motor skills, and psychology from various assisted reproductive treatments (ARTs) might be underdiagnosed. Understanding the prognosis of intelligence, motor skills, and psychology in children from ART would provide parents with reasonable expectations and enable them to plan relevant support to achieve the optimum potential in ART children. METHODS: We searched PubMed, EMBASE, Ovid, Google Scholar, and Scopus databases until April 13, 2021, to identify relevant studies. Thirty-four studies met the inclusion and exclusion criteria. The meta-analysis employed a standardized mean difference model. The outcome of this study is to compare intelligence quotient (IQ), motoric ability, and behavioral problems between all ARTs, in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) to naturally conceived (NC) children. Subdomains of intelligence based on the Cattell, Horn, and Carroll Model (CHC Model) of cognitive architecture, including fluid reasoning, short-term and working memory, processing speed, visual-spatial ability, long-term memory retrieval, and crystalized intelligence (knowledge), were evaluated and summarized in details. Motor skill was stratified into two domains: gross motoric and fine motoric. Behavioral problem was categorized as externalizing and internalizing behavior. RESULTS: Meta-analysis showed that verbal intelligence score in IVF toddlers is significantly lower than NC toddlers (p = 0.02); conversely, ICSI toddlers scored significantly higher verbal intelligence score compared to NC toddlers (p = 0.005). Toddlers born after ART had significantly lower non-verbal intelligence score (p = 0.047). IVF toddlers scored significantly lower fine motor score (p = 0.01) compared to naturally conceived toddlers. Based on parent's CBCL, NC toddlers had higher total (p = 0.01) and externalizing behavior (p = 0.001) scores  compared to ART toddlers. Evaluation of full scale IQ and all domains of intelligence in preschool and primary school children revealed that no significant differences exist between ART and NC children. Based on preschool and primary school parents' CBCL, IVF children had significantly lower externalizing behavior score compared to NC children (p = 0.04). Meta-analyses of studies on young adolescents revealed that ART young adolescents scored higher academically than their NC counterparts, including on mathematics (p < 0.00001) and reading or language (p < 0.00001). CONCLUSIONS: Despite differences in certain aspects, this finding suggests that ART is unlikely to cause negative impacts on children's neurodevelopment. En ligne : https://dx.doi.org/10.1186/s11689-023-09490-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample / Chimei M. LEE in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample Type de document : texte imprimé Auteurs : Chimei M. LEE, Auteur ; Melody R. ALTSCHULER, Auteur ; Amy N. ESLER, Auteur ; Catherine A. BURROWS, Auteur ; Rebekah L. HUDOCK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Child, Preschool  Autism Spectrum Disorder/diagnosis  Individuality  Communication  Psychometrics  Adaptive behavior  Autism spectrum disorder  Diagnosis  Early identification  Externalizing  Individual differences  Internalizing  Screening  Sensitivity  Social Communication Questionnaire  Specificity Index. décimale : PER Périodiques Résumé : BACKGROUND: The Social Communication Questionnaire (SCQ) is a checklist for autism spectrum disorder (ASD) commonly used in research and clinical practice. While the original validation study suggested that the SCQ was an accurate ASD screener with satisfactory sensitivity and specificity, subsequent studies have yielded mixed results, with some revealing low sensitivity, low specificity, and low utility in some settings. METHOD: The present study examined the psychometric properties of the SCQ as well as the individual difference characteristics of 187 individuals with and without autism spectrum disorder (ASD) who were misclassified or accurately classified by the SCQ in a clinic-referred sample. RESULTS: The SCQ showed suboptimal sensitivity and specificity, regardless of age and sex. Compared to true positives, individuals classified as false positives displayed greater externalizing and internalizing problems, whereas individuals classified as false negatives displayed better social communication and adaptive skills. CONCLUSIONS: The findings suggest that non-autistic developmental and behavioral individual difference characteristics may explain high rates of misclassification using the SCQ. Clinicians and researchers could consider using the SCQ in combination with other tools for young children with internalizing and externalizing symptoms and other more complex clinical presentations. En ligne : https://dx.doi.org/10.1186/s11689-023-09497-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample [texte imprimé] / Chimei M. LEE, Auteur ; Melody R. ALTSCHULER, Auteur ; Amy N. ESLER, Auteur ; Catherine A. BURROWS, Auteur ; Rebekah L. HUDOCK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Child, Preschool  Autism Spectrum Disorder/diagnosis  Individuality  Communication  Psychometrics  Adaptive behavior  Autism spectrum disorder  Diagnosis  Early identification  Externalizing  Individual differences  Internalizing  Screening  Sensitivity  Social Communication Questionnaire  Specificity Index. décimale : PER Périodiques Résumé : BACKGROUND: The Social Communication Questionnaire (SCQ) is a checklist for autism spectrum disorder (ASD) commonly used in research and clinical practice. While the original validation study suggested that the SCQ was an accurate ASD screener with satisfactory sensitivity and specificity, subsequent studies have yielded mixed results, with some revealing low sensitivity, low specificity, and low utility in some settings. METHOD: The present study examined the psychometric properties of the SCQ as well as the individual difference characteristics of 187 individuals with and without autism spectrum disorder (ASD) who were misclassified or accurately classified by the SCQ in a clinic-referred sample. RESULTS: The SCQ showed suboptimal sensitivity and specificity, regardless of age and sex. Compared to true positives, individuals classified as false positives displayed greater externalizing and internalizing problems, whereas individuals classified as false negatives displayed better social communication and adaptive skills. CONCLUSIONS: The findings suggest that non-autistic developmental and behavioral individual difference characteristics may explain high rates of misclassification using the SCQ. Clinicians and researchers could consider using the SCQ in combination with other tools for young children with internalizing and externalizing symptoms and other more complex clinical presentations. En ligne : https://dx.doi.org/10.1186/s11689-023-09497-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome / J. Shane KIPPENHAN in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome Type de document : texte imprimé Auteurs : J. Shane KIPPENHAN, Auteur ; Michael D. GREGORY, Auteur ; Tiffany NASH, Auteur ; Philip KOHN, Auteur ; Carolyn B. MERVIS, Auteur ; Daniel P. EISENBERG, Auteur ; Madeline H. GARVEY, Auteur ; Katherine ROE, Auteur ; Colleen A. MORRIS, Auteur ; Bhaskar KOLACHANA, Auteur ; Ariel M. PANI, Auteur ; Leah SORCHER, Auteur ; Karen F. BERMAN, Auteur Langues : Anglais (eng) Mots-clés : Child, Preschool  Adult  Humans  Child  Haplotypes  Williams Syndrome/complications/genetics  Cerebral Cortex  Cognition  Gray Matter  Lim Kinases/genetics  Dorsal stream  Hemideletion  Intraparietal sulcus  Limk1  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream. We investigated the impacts of hemideletion and haplotype variation of LIMK1, a gene hemideleted in WS and linked to neuronal maturation and migration, on the structure and function of the dorsal stream, specifically the intraparietal sulcus (IPS), a region known to be altered in adults with WS. METHODS: We tested for IPS structural and functional changes using longitudinal MRI in a developing cohort of children with WS (76 visits from 33 participants, compared to 280 visits from 94 typically developing age- and sex-matched participants) over the age range of 5-22. We also performed MRI studies of 12 individuals with rare, shorter hemideletions at 7q11.23, all of which included LIMK1. Finally, we tested for effects of LIMK1 variation on IPS structure and imputed LIMK1 expression in two independent cohorts of healthy individuals from the general population. RESULTS: IPS structural (p < 10(-4) FDR corrected) and functional (p < .05 FDR corrected) anomalies previously reported in adults were confirmed in children with WS, and, consistent with an enduring genetic mechanism, were stable from early childhood into adulthood. In the short hemideletion cohort, IPS deficits similar to those in WS were found, although effect sizes were smaller than those found in WS for both structural and functional findings. Finally, in each of the two general population cohorts stratified by LIMK1 haplotype, IPS gray matter volume (p(discovery) < 0.05 SVC, p(replication) = 0.0015) and imputed LIMK1 expression (p(discovery) = 10(-15), p(replication) = 10(-23)) varied according to LIMK1 haplotype. CONCLUSIONS: This work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09493-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome [texte imprimé] / J. Shane KIPPENHAN, Auteur ; Michael D. GREGORY, Auteur ; Tiffany NASH, Auteur ; Philip KOHN, Auteur ; Carolyn B. MERVIS, Auteur ; Daniel P. EISENBERG, Auteur ; Madeline H. GARVEY, Auteur ; Katherine ROE, Auteur ; Colleen A. MORRIS, Auteur ; Bhaskar KOLACHANA, Auteur ; Ariel M. PANI, Auteur ; Leah SORCHER, Auteur ; Karen F. BERMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child, Preschool  Adult  Humans  Child  Haplotypes  Williams Syndrome/complications/genetics  Cerebral Cortex  Cognition  Gray Matter  Lim Kinases/genetics  Dorsal stream  Hemideletion  Intraparietal sulcus  Limk1  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream. We investigated the impacts of hemideletion and haplotype variation of LIMK1, a gene hemideleted in WS and linked to neuronal maturation and migration, on the structure and function of the dorsal stream, specifically the intraparietal sulcus (IPS), a region known to be altered in adults with WS. METHODS: We tested for IPS structural and functional changes using longitudinal MRI in a developing cohort of children with WS (76 visits from 33 participants, compared to 280 visits from 94 typically developing age- and sex-matched participants) over the age range of 5-22. We also performed MRI studies of 12 individuals with rare, shorter hemideletions at 7q11.23, all of which included LIMK1. Finally, we tested for effects of LIMK1 variation on IPS structure and imputed LIMK1 expression in two independent cohorts of healthy individuals from the general population. RESULTS: IPS structural (p < 10(-4) FDR corrected) and functional (p < .05 FDR corrected) anomalies previously reported in adults were confirmed in children with WS, and, consistent with an enduring genetic mechanism, were stable from early childhood into adulthood. In the short hemideletion cohort, IPS deficits similar to those in WS were found, although effect sizes were smaller than those found in WS for both structural and functional findings. Finally, in each of the two general population cohorts stratified by LIMK1 haplotype, IPS gray matter volume (p(discovery) < 0.05 SVC, p(replication) = 0.0015) and imputed LIMK1 expression (p(discovery) = 10(-15), p(replication) = 10(-23)) varied according to LIMK1 haplotype. CONCLUSIONS: This work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09493-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort / Quanfa HE in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort Type de document : texte imprimé Auteurs : Quanfa HE, Auteur ; Taylor J. KEDING, Auteur ; Qi ZHANG, Auteur ; Jiacheng MIAO, Auteur ; Justin D. RUSSELL, Auteur ; Ryan J. HERRINGA, Auteur ; Qiongshi LU, Auteur ; Brittany G. TRAVERS, Auteur ; James J. LI, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Humans  Attention Deficit Disorder with Hyperactivity/genetics  Neurosciences  Brain/diagnostic imaging  Cerebral Cortex  Gray Matter/diagnostic imaging  Adhd  Brain volume  Functional annotation  Multiple mediation  Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD polygenic scores (PGSs) have been previously shown to predict ADHD outcomes in several studies. However, ADHD PGSs are typically correlated with ADHD but not necessarily reflective of causal mechanisms. More research is needed to elucidate the neurobiological mechanisms underlying ADHD. We leveraged functional annotation information into an ADHD PGS to (1) improve the prediction performance over a non-annotated ADHD PGS and (2) test whether volumetric variation in brain regions putatively associated with ADHD mediate the association between PGSs and ADHD outcomes. METHODS: Data were from the Philadelphia Neurodevelopmental Cohort (N = 555). Multiple mediation models were tested to examine the indirect effects of two ADHD PGSs-one using a traditional computation involving clumping and thresholding and another using a functionally annotated approach (i.e., AnnoPred)-on ADHD inattention (IA) and hyperactivity-impulsivity (HI) symptoms, via gray matter volumes in the cingulate gyrus, angular gyrus, caudate, dorsolateral prefrontal cortex (DLPFC), and inferior temporal lobe. RESULTS: A direct effect was detected between the AnnoPred ADHD PGS and IA symptoms in adolescents. No indirect effects via brain volumes were detected for either IA or HI symptoms. However, both ADHD PGSs were negatively associated with the DLPFC. CONCLUSIONS: The AnnoPred ADHD PGS was a more developmentally specific predictor of adolescent IA symptoms compared to the traditional ADHD PGS. However, brain volumes did not mediate the effects of either a traditional or AnnoPred ADHD PGS on ADHD symptoms, suggesting that we may still be underpowered in clarifying brain-based biomarkers for ADHD using genetic measures. En ligne : https://dx.doi.org/10.1186/s11689-023-09498-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort [texte imprimé] / Quanfa HE, Auteur ; Taylor J. KEDING, Auteur ; Qi ZHANG, Auteur ; Jiacheng MIAO, Auteur ; Justin D. RUSSELL, Auteur ; Ryan J. HERRINGA, Auteur ; Qiongshi LU, Auteur ; Brittany G. TRAVERS, Auteur ; James J. LI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adolescent  Humans  Attention Deficit Disorder with Hyperactivity/genetics  Neurosciences  Brain/diagnostic imaging  Cerebral Cortex  Gray Matter/diagnostic imaging  Adhd  Brain volume  Functional annotation  Multiple mediation  Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD polygenic scores (PGSs) have been previously shown to predict ADHD outcomes in several studies. However, ADHD PGSs are typically correlated with ADHD but not necessarily reflective of causal mechanisms. More research is needed to elucidate the neurobiological mechanisms underlying ADHD. We leveraged functional annotation information into an ADHD PGS to (1) improve the prediction performance over a non-annotated ADHD PGS and (2) test whether volumetric variation in brain regions putatively associated with ADHD mediate the association between PGSs and ADHD outcomes. METHODS: Data were from the Philadelphia Neurodevelopmental Cohort (N = 555). Multiple mediation models were tested to examine the indirect effects of two ADHD PGSs-one using a traditional computation involving clumping and thresholding and another using a functionally annotated approach (i.e., AnnoPred)-on ADHD inattention (IA) and hyperactivity-impulsivity (HI) symptoms, via gray matter volumes in the cingulate gyrus, angular gyrus, caudate, dorsolateral prefrontal cortex (DLPFC), and inferior temporal lobe. RESULTS: A direct effect was detected between the AnnoPred ADHD PGS and IA symptoms in adolescents. No indirect effects via brain volumes were detected for either IA or HI symptoms. However, both ADHD PGSs were negatively associated with the DLPFC. CONCLUSIONS: The AnnoPred ADHD PGS was a more developmentally specific predictor of adolescent IA symptoms compared to the traditional ADHD PGS. However, brain volumes did not mediate the effects of either a traditional or AnnoPred ADHD PGS on ADHD symptoms, suggesting that we may still be underpowered in clarifying brain-based biomarkers for ADHD using genetic measures. En ligne : https://dx.doi.org/10.1186/s11689-023-09498-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants / Ron NUDEL in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants Type de document : texte imprimé Auteurs : Ron NUDEL, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09499-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants [texte imprimé] / Ron NUDEL, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09499-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) / Petrus J. DE VRIES in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) Type de document : texte imprimé Auteurs : Petrus J. DE VRIES, Auteur ; Tosca-Marie HEUNIS, Auteur ; Stephanie VANCLOOSTER, Auteur ; Nola CHAMBERS, Auteur ; Stacey BISSELL, Auteur ; Anna W. BYARS, Auteur ; Jennifer FLINN, Auteur ; Tanjala T. GIPSON, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Robert WALTEREIT, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter E. DAVIS, Auteur ; Catherine SMITH, Auteur ; J. Chris KINGSWOOD, Auteur ; Eva SCHOETERS, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Aubrey J. KUMM, Auteur ; Darcy A. KRUEGER, Auteur ; Mustafa SAHIN, Auteur ; Liesbeth DE WAELE, Auteur ; Anna C. JANSEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Affect  Anxiety  Autistic Disorder  Consensus  Tuberous Sclerosis/complications/diagnosis/therapy  Consensus recommendations  Education  Mental health  Neurodevelopmental disability  Rare genetic disorders  Tand  Tuberous sclerosis complex  sponsored by Novartis, was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis, and has provided  consultancy to GW Pharma. SB is funded by Cerebra to investigate sleep and  behavior in rare genetic syndromes, including TSC. AVE is on the scientific  advisory board and received grant support from Jazz Pharmaceuticals. JC receives  grant funding from the NIH and the Department of Defense for projects related to  TSC. PD receives partial salary support from the NIH for participation in studies  related to TSC, as well as from Aucta Pharmaceuticals for a study of topical  sirolimus for facial angiofibromas in TSC and Marinus Pharmaceuticals for a study  of ganaxolone for TSC‑related epilepsy. CS receives salary support from the TSC  Alliance, a non‑profit organization that reports revenue from individual donors  and corporations including Greenwich Biosciences, GW Pharma, Mallinckrodt,  Nobelpharma, Novartis, Ovid, UCB, and Upsher‑Smith. DAK reports grants from the  National Institutes of Health (NINDS) during the conduct of the study as well as  the personal fees from Novartis Pharmaceuticals, personal fees from Greenwich  Bioscience, grants from Marinus Pharmaceuticals, personal fees from Nobelpharma  America, personal fees from REGENXBIO, and grants and non‑financial support from  TSC Alliance outside the submitted work. MS reports grant support from Novartis,  Biogen, Astellas, Aeovian, Bridgebio, and Aucta and has served on Scientific  Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics, and Alkermes. ACJ was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis and has provided consultancy  to GW Pharma. The remaining authors declared no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific. METHODS: The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community. RESULTS: At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to "screen" for TAND at least annually, to "act" using appropriate next steps for evaluation and treatment, and to "repeat" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families. CONCLUSIONS: The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a "TAND toolkit" of "what to seek" and "what to do" when difficulties are identified in TAND clusters. En ligne : https://dx.doi.org/10.1186/s11689-023-09500-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) [texte imprimé] / Petrus J. DE VRIES, Auteur ; Tosca-Marie HEUNIS, Auteur ; Stephanie VANCLOOSTER, Auteur ; Nola CHAMBERS, Auteur ; Stacey BISSELL, Auteur ; Anna W. BYARS, Auteur ; Jennifer FLINN, Auteur ; Tanjala T. GIPSON, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Robert WALTEREIT, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter E. DAVIS, Auteur ; Catherine SMITH, Auteur ; J. Chris KINGSWOOD, Auteur ; Eva SCHOETERS, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Aubrey J. KUMM, Auteur ; Darcy A. KRUEGER, Auteur ; Mustafa SAHIN, Auteur ; Liesbeth DE WAELE, Auteur ; Anna C. JANSEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Affect  Anxiety  Autistic Disorder  Consensus  Tuberous Sclerosis/complications/diagnosis/therapy  Consensus recommendations  Education  Mental health  Neurodevelopmental disability  Rare genetic disorders  Tand  Tuberous sclerosis complex  sponsored by Novartis, was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis, and has provided  consultancy to GW Pharma. SB is funded by Cerebra to investigate sleep and  behavior in rare genetic syndromes, including TSC. AVE is on the scientific  advisory board and received grant support from Jazz Pharmaceuticals. JC receives  grant funding from the NIH and the Department of Defense for projects related to  TSC. PD receives partial salary support from the NIH for participation in studies  related to TSC, as well as from Aucta Pharmaceuticals for a study of topical  sirolimus for facial angiofibromas in TSC and Marinus Pharmaceuticals for a study  of ganaxolone for TSC‑related epilepsy. CS receives salary support from the TSC  Alliance, a non‑profit organization that reports revenue from individual donors  and corporations including Greenwich Biosciences, GW Pharma, Mallinckrodt,  Nobelpharma, Novartis, Ovid, UCB, and Upsher‑Smith. DAK reports grants from the  National Institutes of Health (NINDS) during the conduct of the study as well as  the personal fees from Novartis Pharmaceuticals, personal fees from Greenwich  Bioscience, grants from Marinus Pharmaceuticals, personal fees from Nobelpharma  America, personal fees from REGENXBIO, and grants and non‑financial support from  TSC Alliance outside the submitted work. MS reports grant support from Novartis,  Biogen, Astellas, Aeovian, Bridgebio, and Aucta and has served on Scientific  Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics, and Alkermes. ACJ was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis and has provided consultancy  to GW Pharma. The remaining authors declared no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific. METHODS: The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community. RESULTS: At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to "screen" for TAND at least annually, to "act" using appropriate next steps for evaluation and treatment, and to "repeat" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families. CONCLUSIONS: The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a "TAND toolkit" of "what to seek" and "what to do" when difficulties are identified in TAND clusters. En ligne : https://dx.doi.org/10.1186/s11689-023-09500-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study / Jeffrey L. NEUL in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study Type de document : texte imprimé Auteurs : Jeffrey L. NEUL, Auteur ; Timothy A. BENKE, Auteur ; Eric D. MARSH, Auteur ; Bernhard SUTER, Auteur ; Lori SILVEIRA, Auteur ; Cary FU, Auteur ; Sarika U. PETERS, Auteur ; Alan K. PERCY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/complications/diagnosis  Caregivers  X-Linked Intellectual Disability/genetics  Seizures  Spasms, Infantile  Cdkl5  Caregiver concerns  Foxg1  MECP2 duplication  Neurodevelopmental disorders  Rett syndrome  International Rett Syndrome Foundation, and Rett Syndrome Research Trust  clinical trials with Acadia Pharmaceuticals Inc., GW Pharmaceuticals  personal  consultancy for Acadia Pharmaceuticals Inc., Analysis Group, AveXis, GW  Pharmaceuticals, Hoffmann-La Roche, Myrtelle, Neurogene, Newron Pharmaceuticals,  Signant Health, Taysha Gene Therapies, and the preparation of CME activities for  PeerView Institute, MedEdicus, and Medscape  serves on the scientific advisory  board of Alcyone Lifesciences  is a scientific cofounder of LizarBio  Therapeutics  and was a member of a data safety monitoring board for clinical  trials conducted by Ovid Therapeutics. TAB received research funding from GRIN2B  Foundation, International Rett Syndrome Foundation, the International Foundation  for CDKL5 Research, Loulou Foundation, the National Institutes of Health, and  Simons Foundation  consultancy for Alcyone, AveXis, GRIN Therapeutics, GW  Pharmaceuticals, the International Rett Syndrome Foundation, Marinus  Pharmaceuticals, Neurogene, Ovid Therapeutics, and Takeda Pharmaceutical Company  Limited  clinical trials with Acadia Pharmaceuticals Inc., GW Pharmaceuticals,  Marinus Pharmaceuticals, Ovid Therapeutics, and Rett Syndrome Research Trust  all  remuneration has been made to his department. EDM received research support from  the National Institutes of Health, Penn Orphan Disease Center, the International  Rett Syndrome Foundation, Rett Syndrome Research Trust, International CDKL5  Research Foundation, and the Loulou Foundation. He has been a site principal  investigator for trials from Stoke Therapeutics, Zogenix, Acadia Pharmaceuticals  Inc., Takeda Pharmaceuticals, Epygenix Pharmaceuticals, and Marinus  Pharmaceuticals. He has received personal compensation for consulting from Acadia  Pharmaceuticals Inc. and the preparation of CME activities for Medscape. BS has  been a site investigator for clinical trials with Acadia, Marinus, and Newron  consultancy for Neurogene and Taysha  all remuneration has been paid to his  department. LS declares no competing interests. CF has been a site investigator  for clinical trials with Acadia. SUP received research funding from the National  Institutes of Health, the MECP2 Duplication Foundation, and the ActiGraph  Corporation. AKP received research funding from the National Institutes of  Health, International Rett Syndrome Foundation, Rett Syndrome Research Trust  clinical trials with Acadia Pharmaceuticals Inc. and Anavex Life Sciences Corp.  and personal consultancy for Acadia Pharmaceuticals Inc. and Anavex Life Sciences  Corp. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders. METHODS: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2. RESULTS: The top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features. CONCLUSION: The top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers. En ligne : https://dx.doi.org/10.1186/s11689-023-09502-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study [texte imprimé] / Jeffrey L. NEUL, Auteur ; Timothy A. BENKE, Auteur ; Eric D. MARSH, Auteur ; Bernhard SUTER, Auteur ; Lori SILVEIRA, Auteur ; Cary FU, Auteur ; Sarika U. PETERS, Auteur ; Alan K. PERCY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Rett Syndrome/complications/diagnosis  Caregivers  X-Linked Intellectual Disability/genetics  Seizures  Spasms, Infantile  Cdkl5  Caregiver concerns  Foxg1  MECP2 duplication  Neurodevelopmental disorders  Rett syndrome  International Rett Syndrome Foundation, and Rett Syndrome Research Trust  clinical trials with Acadia Pharmaceuticals Inc., GW Pharmaceuticals  personal  consultancy for Acadia Pharmaceuticals Inc., Analysis Group, AveXis, GW  Pharmaceuticals, Hoffmann-La Roche, Myrtelle, Neurogene, Newron Pharmaceuticals,  Signant Health, Taysha Gene Therapies, and the preparation of CME activities for  PeerView Institute, MedEdicus, and Medscape  serves on the scientific advisory  board of Alcyone Lifesciences  is a scientific cofounder of LizarBio  Therapeutics  and was a member of a data safety monitoring board for clinical  trials conducted by Ovid Therapeutics. TAB received research funding from GRIN2B  Foundation, International Rett Syndrome Foundation, the International Foundation  for CDKL5 Research, Loulou Foundation, the National Institutes of Health, and  Simons Foundation  consultancy for Alcyone, AveXis, GRIN Therapeutics, GW  Pharmaceuticals, the International Rett Syndrome Foundation, Marinus  Pharmaceuticals, Neurogene, Ovid Therapeutics, and Takeda Pharmaceutical Company  Limited  clinical trials with Acadia Pharmaceuticals Inc., GW Pharmaceuticals,  Marinus Pharmaceuticals, Ovid Therapeutics, and Rett Syndrome Research Trust  all  remuneration has been made to his department. EDM received research support from  the National Institutes of Health, Penn Orphan Disease Center, the International  Rett Syndrome Foundation, Rett Syndrome Research Trust, International CDKL5  Research Foundation, and the Loulou Foundation. He has been a site principal  investigator for trials from Stoke Therapeutics, Zogenix, Acadia Pharmaceuticals  Inc., Takeda Pharmaceuticals, Epygenix Pharmaceuticals, and Marinus  Pharmaceuticals. He has received personal compensation for consulting from Acadia  Pharmaceuticals Inc. and the preparation of CME activities for Medscape. BS has  been a site investigator for clinical trials with Acadia, Marinus, and Newron  consultancy for Neurogene and Taysha  all remuneration has been paid to his  department. LS declares no competing interests. CF has been a site investigator  for clinical trials with Acadia. SUP received research funding from the National  Institutes of Health, the MECP2 Duplication Foundation, and the ActiGraph  Corporation. AKP received research funding from the National Institutes of  Health, International Rett Syndrome Foundation, Rett Syndrome Research Trust  clinical trials with Acadia Pharmaceuticals Inc. and Anavex Life Sciences Corp.  and personal consultancy for Acadia Pharmaceuticals Inc. and Anavex Life Sciences  Corp. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders. METHODS: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2. RESULTS: The top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features. CONCLUSION: The top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers. En ligne : https://dx.doi.org/10.1186/s11689-023-09502-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder / Natalie K. BOYD in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder Type de document : texte imprimé Auteurs : Natalie K. BOYD, Auteur ; Julia NGUYEN, Auteur ; Mellad M. KHOSHNOOD, Auteur ; Timothy JIANG, Auteur ; Lina NGUYEN, Auteur ; Lorena MENDEZ, Auteur ; Noemi A. SPINAZZI, Auteur ; Melanie A. MANNING, Auteur ; Michael S. RAFII, Auteur ; Jonathan D. SANTORO, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/complications/epidemiology/diagnosis  Down Syndrome/complications  Retrospective Studies  Vitamin D  Vitamin D Deficiency/complications/epidemiology  Autoimmune Diseases/complications  Autism spectrum disorder  Autoimmune  Down syndrome  Immunity  Neurodevelopmental  Trisomy 21  Vitamin D 25-OH Index. décimale : PER Périodiques Résumé : BACKGROUND: Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls. METHODS: A retrospective, multi-center review was performed. The three sites were located at latitudes of 42.361145, 37.44466, and 34.05349. Patients were identified by the International Classification of Diseases (ICD)-9 or ICD-10 codes for DS, ASD, or well-child check visits for NT individuals. The first vitamin D 25-OH level recorded in the electronic medical record (EMR) was used in this study as it was felt to be the most reflective of a natural and non-supplemented state. Vitamin D 25-OH levels below 30 ng/mL were considered deficient. RESULTS: In total, 1624 individuals with DS, 5208 with ASD, and 30,775 NT controls were identified. Individuals with DS had the lowest mean level of vitamin D 25-OH at 20.67 ng/mL, compared to those with ASD (23.48 ng/mL) and NT controls (29.20 ng/mL) (p < 0.001, 95% CI: -8.97 to -6.44). A total of 399 (24.6%) individuals with DS were considered vitamin D deficient compared to 1472 (28.3%) with ASD and 12,397 (40.3%) NT controls (p < 0.001, 95% CI: -5.43 to -2.36). Individuals with DS with higher body mass index (BMI) were found to be more likely to have lower levels of vitamin D (p < 0.001, 95% CI: -0.3849 to -0.1509). Additionally, having both DS and a neurologic diagnosis increased the likelihood of having lower vitamin D levels (p < 0.001, 95% CI: -5.02 to -1.28). Individuals with DS and autoimmune disease were much more likely to have lower vitamin D levels (p < 0.001, 95% CI: -6.22 to -1.55). Similarly, a history of autoimmunity in a first-degree relative also increased the likelihood of having lower levels of vitamin D in persons with DS (p = 0.01, 95% CI: -2.45 to -0.63). CONCLUSIONS: Individuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS. En ligne : https://dx.doi.org/10.1186/s11689-023-09503-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder [texte imprimé] / Natalie K. BOYD, Auteur ; Julia NGUYEN, Auteur ; Mellad M. KHOSHNOOD, Auteur ; Timothy JIANG, Auteur ; Lina NGUYEN, Auteur ; Lorena MENDEZ, Auteur ; Noemi A. SPINAZZI, Auteur ; Melanie A. MANNING, Auteur ; Michael S. RAFII, Auteur ; Jonathan D. SANTORO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Autism Spectrum Disorder/complications/epidemiology/diagnosis  Down Syndrome/complications  Retrospective Studies  Vitamin D  Vitamin D Deficiency/complications/epidemiology  Autoimmune Diseases/complications  Autism spectrum disorder  Autoimmune  Down syndrome  Immunity  Neurodevelopmental  Trisomy 21  Vitamin D 25-OH Index. décimale : PER Périodiques Résumé : BACKGROUND: Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls. METHODS: A retrospective, multi-center review was performed. The three sites were located at latitudes of 42.361145, 37.44466, and 34.05349. Patients were identified by the International Classification of Diseases (ICD)-9 or ICD-10 codes for DS, ASD, or well-child check visits for NT individuals. The first vitamin D 25-OH level recorded in the electronic medical record (EMR) was used in this study as it was felt to be the most reflective of a natural and non-supplemented state. Vitamin D 25-OH levels below 30 ng/mL were considered deficient. RESULTS: In total, 1624 individuals with DS, 5208 with ASD, and 30,775 NT controls were identified. Individuals with DS had the lowest mean level of vitamin D 25-OH at 20.67 ng/mL, compared to those with ASD (23.48 ng/mL) and NT controls (29.20 ng/mL) (p < 0.001, 95% CI: -8.97 to -6.44). A total of 399 (24.6%) individuals with DS were considered vitamin D deficient compared to 1472 (28.3%) with ASD and 12,397 (40.3%) NT controls (p < 0.001, 95% CI: -5.43 to -2.36). Individuals with DS with higher body mass index (BMI) were found to be more likely to have lower levels of vitamin D (p < 0.001, 95% CI: -0.3849 to -0.1509). Additionally, having both DS and a neurologic diagnosis increased the likelihood of having lower vitamin D levels (p < 0.001, 95% CI: -5.02 to -1.28). Individuals with DS and autoimmune disease were much more likely to have lower vitamin D levels (p < 0.001, 95% CI: -6.22 to -1.55). Similarly, a history of autoimmunity in a first-degree relative also increased the likelihood of having lower levels of vitamin D in persons with DS (p = 0.01, 95% CI: -2.45 to -0.63). CONCLUSIONS: Individuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS. En ligne : https://dx.doi.org/10.1186/s11689-023-09503-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients / Chia-Jui HSU in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients Type de document : texte imprimé Auteurs : Chia-Jui HSU, Auteur ; Lee Chin WONG, Auteur ; Hsin-Pei WANG, Auteur ; Yi-Chun CHUNG, Auteur ; Te-Wei KAO, Auteur ; Chen-Hsiang WENG, Auteur ; Wen-Chau WU, Auteur ; Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Tourette Syndrome/diagnostic imaging/pathology  Prospective Studies  Brain/diagnostic imaging/pathology  Diffusion Magnetic Resonance Imaging  Brain Mapping  Diffusion spectrum imaging  False discovery rate  Frontostriatal  Gilles de la Tourette syndrome  Pediatric neurology Index. décimale : PER Périodiques Résumé : BACKGROUND: Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS's extensive impact on the entire brain. However, due to participant variability and potential drug and comorbidity impact, the results are inconsistent. To mitigate the potential impact of participant heterogeneity, we excluded individuals with comorbidities or those currently undergoing medication treatments. Based on the hypothesis of abnormality within the CSTC circuit, we investigated microstructural changes in white matter using diffusion spectrum imaging (DSI). This study offers the first examination of microstructural changes in treatment-naïve pediatric patients with pure GTS using diffusion spectrum imaging. METHODS: This single-center prospective study involved 30 patients and 30 age- and gender-matched healthy volunteers who underwent sagittal T1-weighted MRI and DSI. We analyzed generalized fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity. RESULTS: No significant differences were observed in mean diffusivity and axial diffusivity values between the two groups. However, the patient group exhibited significantly higher generalized fractional anisotropy values in the right frontostriatal tract of the dorsolateral prefrontal cortex, the right frontostriatal tract of the precentral gyrus, and bilateral thalamic radiation of the dorsolateral prefrontal cortex. Additionally, the generalized fractional anisotropy value of the right frontostriatal tract of the precentral gyrus is inversely correlated with the total tic severity scores at the most severe condition. CONCLUSION: Treatment-naïve pediatric GTS patients demonstrated increased connectivity within the CSTC circuit as per diffusion spectrum imaging, indicating possible CSTC circuit dysregulation. This finding could also suggest a compensatory change. It thus underscores the necessity of further investigation into the fundamental pathological changes in GTS. Nevertheless, the observed altered connectivity in GTS patients might serve as a potential target for therapeutic intervention. En ligne : https://dx.doi.org/10.1186/s11689-023-09501-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients [texte imprimé] / Chia-Jui HSU, Auteur ; Lee Chin WONG, Auteur ; Hsin-Pei WANG, Auteur ; Yi-Chun CHUNG, Auteur ; Te-Wei KAO, Auteur ; Chen-Hsiang WENG, Auteur ; Wen-Chau WU, Auteur ; Shinn-Forng PENG, Auteur ; Wen-Yih Isaac TSENG, Auteur ; Wang-Tso LEE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Tourette Syndrome/diagnostic imaging/pathology  Prospective Studies  Brain/diagnostic imaging/pathology  Diffusion Magnetic Resonance Imaging  Brain Mapping  Diffusion spectrum imaging  False discovery rate  Frontostriatal  Gilles de la Tourette syndrome  Pediatric neurology Index. décimale : PER Périodiques Résumé : BACKGROUND: Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS's extensive impact on the entire brain. However, due to participant variability and potential drug and comorbidity impact, the results are inconsistent. To mitigate the potential impact of participant heterogeneity, we excluded individuals with comorbidities or those currently undergoing medication treatments. Based on the hypothesis of abnormality within the CSTC circuit, we investigated microstructural changes in white matter using diffusion spectrum imaging (DSI). This study offers the first examination of microstructural changes in treatment-naïve pediatric patients with pure GTS using diffusion spectrum imaging. METHODS: This single-center prospective study involved 30 patients and 30 age- and gender-matched healthy volunteers who underwent sagittal T1-weighted MRI and DSI. We analyzed generalized fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity. RESULTS: No significant differences were observed in mean diffusivity and axial diffusivity values between the two groups. However, the patient group exhibited significantly higher generalized fractional anisotropy values in the right frontostriatal tract of the dorsolateral prefrontal cortex, the right frontostriatal tract of the precentral gyrus, and bilateral thalamic radiation of the dorsolateral prefrontal cortex. Additionally, the generalized fractional anisotropy value of the right frontostriatal tract of the precentral gyrus is inversely correlated with the total tic severity scores at the most severe condition. CONCLUSION: Treatment-naïve pediatric GTS patients demonstrated increased connectivity within the CSTC circuit as per diffusion spectrum imaging, indicating possible CSTC circuit dysregulation. This finding could also suggest a compensatory change. It thus underscores the necessity of further investigation into the fundamental pathological changes in GTS. Nevertheless, the observed altered connectivity in GTS patients might serve as a potential target for therapeutic intervention. En ligne : https://dx.doi.org/10.1186/s11689-023-09501-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Autism through midlife: trajectories of symptoms, behavioral functioning, and health / Jinkuk HONG in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Autism through midlife: trajectories of symptoms, behavioral functioning, and health Type de document : texte imprimé Auteurs : Jinkuk HONG, Auteur ; Leann Smith DAWALT, Auteur ; Julie Lounds TAYLOR, Auteur ; Aasma HAIDER, Auteur ; Marsha MAILICK, Auteur Langues : Anglais (eng) Mots-clés : Adult  Adolescent  Humans  Autistic Disorder/complications  Activities of Daily Living  Aging  Cognition  Behavioral Symptoms  Accelerated longitudinal design  Autism in adulthood  Developmental trajectories  Functioning  Health  Midlife and aging  Symptoms Index. décimale : PER Périodiques Résumé : BACKGROUND: This study describes change in autism symptoms, behavioral functioning, and health measured prospectively over 22 years. Most studies tracking developmental trajectories have focused on autism during childhood, although adulthood is the longest stage of the life course. A robust understanding of how autistic people change through midlife and into older age has yet to be obtained. METHODS: Using an accelerated longitudinal design with 9 waves of data, developmental trajectories were estimated from adolescence through midlife and into early old age in a community-based cohort (n = 406). The overall aim was to determine whether there were age-related increases or decreases, whether the change was linear or curvilinear, and whether these trajectories differed between those who have ID and those who have average or above-average intellectual functioning. Subsequently, the slopes of the trajectories were evaluated to determine if they differed depending on age when the study began, with the goal of identifying possible cohort effects. RESULTS: There were significant trajectories of age-related change for all but one of the measures, although different measures manifested different patterns. Most autism symptoms improved through adulthood, while health worsened. An inverted U-shaped curve best described change for repetitive behavior symptoms, activities of daily living, maladaptive behaviors, and social interaction. For these measures, improved functioning was evident from adolescence until midlife. Then change leveled off, with worsening functioning from later midlife into early older age. Additionally, differences between autistic individuals with and without ID were evident. Although those who have ID had poorer levels of functioning, there were some indications that those without ID had accelerating challenges in their aging years that were not evident in those with ID - increases in medications for physical health problems and worsening repetitive behaviors. CONCLUSIONS: Meeting the needs of the increasingly large population of autistic adults in midlife and old age requires a nuanced understanding of life course trajectories across the long stretch of adulthood and across multiple domains. Given the heterogeneity of autism, it will be important not to generalize across sub-groups, for example those who are minimally verbal and those who have above-average intellectual functioning. En ligne : https://dx.doi.org/10.1186/s11689-023-09505-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Autism through midlife: trajectories of symptoms, behavioral functioning, and health [texte imprimé] / Jinkuk HONG, Auteur ; Leann Smith DAWALT, Auteur ; Julie Lounds TAYLOR, Auteur ; Aasma HAIDER, Auteur ; Marsha MAILICK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adult  Adolescent  Humans  Autistic Disorder/complications  Activities of Daily Living  Aging  Cognition  Behavioral Symptoms  Accelerated longitudinal design  Autism in adulthood  Developmental trajectories  Functioning  Health  Midlife and aging  Symptoms Index. décimale : PER Périodiques Résumé : BACKGROUND: This study describes change in autism symptoms, behavioral functioning, and health measured prospectively over 22 years. Most studies tracking developmental trajectories have focused on autism during childhood, although adulthood is the longest stage of the life course. A robust understanding of how autistic people change through midlife and into older age has yet to be obtained. METHODS: Using an accelerated longitudinal design with 9 waves of data, developmental trajectories were estimated from adolescence through midlife and into early old age in a community-based cohort (n = 406). The overall aim was to determine whether there were age-related increases or decreases, whether the change was linear or curvilinear, and whether these trajectories differed between those who have ID and those who have average or above-average intellectual functioning. Subsequently, the slopes of the trajectories were evaluated to determine if they differed depending on age when the study began, with the goal of identifying possible cohort effects. RESULTS: There were significant trajectories of age-related change for all but one of the measures, although different measures manifested different patterns. Most autism symptoms improved through adulthood, while health worsened. An inverted U-shaped curve best described change for repetitive behavior symptoms, activities of daily living, maladaptive behaviors, and social interaction. For these measures, improved functioning was evident from adolescence until midlife. Then change leveled off, with worsening functioning from later midlife into early older age. Additionally, differences between autistic individuals with and without ID were evident. Although those who have ID had poorer levels of functioning, there were some indications that those without ID had accelerating challenges in their aging years that were not evident in those with ID - increases in medications for physical health problems and worsening repetitive behaviors. CONCLUSIONS: Meeting the needs of the increasingly large population of autistic adults in midlife and old age requires a nuanced understanding of life course trajectories across the long stretch of adulthood and across multiple domains. Given the heterogeneity of autism, it will be important not to generalize across sub-groups, for example those who are minimally verbal and those who have above-average intellectual functioning. En ligne : https://dx.doi.org/10.1186/s11689-023-09505-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Age of diagnosis for children with chromosome 15q syndromes / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Age of diagnosis for children with chromosome 15q syndromes Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Age of diagnosis for children with chromosome 15q syndromes [texte imprimé] / Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Correction: The diagnostic journey of genetically defined neurodevelopmental disorders / Juliana SIMON in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Correction: The diagnostic journey of genetically defined neurodevelopmental disorders Type de document : texte imprimé Auteurs : Juliana SIMON, Auteur ; Carly HYDE, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Rujuta WILSON, Auteur ; Benjamin SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Aaron BESTERMAN, Auteur ; Shafali JESTE, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09509-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Correction: The diagnostic journey of genetically defined neurodevelopmental disorders [texte imprimé] / Juliana SIMON, Auteur ; Carly HYDE, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Rujuta WILSON, Auteur ; Benjamin SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Aaron BESTERMAN, Auteur ; Shafali JESTE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09509-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

A mouse model of ATRX deficiency with cognitive deficits and autistic traits / Katherine M. QUESNEL in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : A mouse model of ATRX deficiency with cognitive deficits and autistic traits Type de document : texte imprimé Auteurs : Katherine M. QUESNEL, Auteur ; Nicole MARTIN-KENNY, Auteur ; Nathalie G. BÉRUBÉ, Auteur Langues : Anglais (eng) Mots-clés : Male  Cognition  X-Linked Intellectual Disability  Neurons/physiology  Memory Disorders/etiology  Female  alpha-Thalassemia  Autistic Disorder/complications/genetics  Mice  Animals  Atrx  Autism  Intellectual disability  Sex differences Index. décimale : PER Périodiques Résumé : BACKGROUND: ATRX is an ATP-dependent chromatin remodeling protein with essential roles in safeguarding genome integrity and modulating gene expression. Deficiencies in this protein cause ATR-X syndrome, a condition characterized by intellectual disability and an array of developmental abnormalities, including features of autism. Previous studies demonstrated that deleting ATRX in mouse forebrain excitatory neurons postnatally resulted in male-specific memory deficits, but no apparent autistic-like behaviours. METHODS: We generated mice with an earlier embryonic deletion of ATRX in forebrain excitatory neurons and characterized their behaviour using a series of memory and autistic-related paradigms. RESULTS: We found that mutant mice displayed a broader spectrum of impairments, including fear memory, decreased anxiety-like behaviour, hyperactivity, as well as self-injurious and repetitive grooming. Sex-specific alterations were also observed, including male-specific aggression, sensory gating impairments, and decreased social memory. CONCLUSIONS: Collectively, the findings indicate that early developmental abnormalities arising from ATRX deficiency in forebrain excitatory neurons contribute to the presentation of fear memory deficits as well as autistic-like behaviours. En ligne : https://dx.doi.org/10.1186/s11689-023-09508-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] A mouse model of ATRX deficiency with cognitive deficits and autistic traits [texte imprimé] / Katherine M. QUESNEL, Auteur ; Nicole MARTIN-KENNY, Auteur ; Nathalie G. BÉRUBÉ, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Male  Cognition  X-Linked Intellectual Disability  Neurons/physiology  Memory Disorders/etiology  Female  alpha-Thalassemia  Autistic Disorder/complications/genetics  Mice  Animals  Atrx  Autism  Intellectual disability  Sex differences Index. décimale : PER Périodiques Résumé : BACKGROUND: ATRX is an ATP-dependent chromatin remodeling protein with essential roles in safeguarding genome integrity and modulating gene expression. Deficiencies in this protein cause ATR-X syndrome, a condition characterized by intellectual disability and an array of developmental abnormalities, including features of autism. Previous studies demonstrated that deleting ATRX in mouse forebrain excitatory neurons postnatally resulted in male-specific memory deficits, but no apparent autistic-like behaviours. METHODS: We generated mice with an earlier embryonic deletion of ATRX in forebrain excitatory neurons and characterized their behaviour using a series of memory and autistic-related paradigms. RESULTS: We found that mutant mice displayed a broader spectrum of impairments, including fear memory, decreased anxiety-like behaviour, hyperactivity, as well as self-injurious and repetitive grooming. Sex-specific alterations were also observed, including male-specific aggression, sensory gating impairments, and decreased social memory. CONCLUSIONS: Collectively, the findings indicate that early developmental abnormalities arising from ATRX deficiency in forebrain excitatory neurons contribute to the presentation of fear memory deficits as well as autistic-like behaviours. En ligne : https://dx.doi.org/10.1186/s11689-023-09508-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task / Valeria C. CARUSO in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task Type de document : texte imprimé Auteurs : Valeria C. CARUSO, Auteur ; Amanda Hampton WRAY, Auteur ; Erica LESCHT, Auteur ; Soo-Eun CHANG, Auteur Langues : Anglais (eng) Mots-clés : Adult  Humans  Child  Stuttering  Speech  Beta oscillations  Eeg  Motor processing  Neural oscillations  Stuttering Index. décimale : PER Périodiques Résumé : BACKGROUND: Neural motor control rests on the dynamic interaction of cortical and subcortical regions, which is reflected in the modulation of oscillatory activity and connectivity in multiple frequency bands. Motor control is thought to be compromised in developmental stuttering, particularly involving circuits in the left hemisphere that support speech, movement initiation, and timing control. However, to date, evidence comes from adult studies, with a limited understanding of motor processes in childhood, closer to the onset of stuttering. METHODS: We investigated the neural control of movement initiation in children who stutter and children who do not stutter by evaluating transient changes in EEG oscillatory activity (power, phase locking to button press) and connectivity (phase synchronization) during a simple button press motor task. We compared temporal changes in these oscillatory dynamics between the left and right hemispheres and between children who stutter and children who do not stutter, using mixed-model analysis of variance. RESULTS: We found reduced modulation of left hemisphere oscillatory power, phase locking to button press and phase connectivity in children who stutter compared to children who do not stutter, consistent with previous findings of dysfunction within the left sensorimotor circuits. Interhemispheric connectivity was weaker at lower frequencies (delta, theta) and stronger in the beta band in children who stutter than in children who do not stutter. CONCLUSIONS: Taken together, these findings indicate weaker engagement of the contralateral left motor network in children who stutter even during low-demand non-speech tasks, and suggest that the right hemisphere might be recruited to support sensorimotor processing in childhood stuttering. Differences in oscillatory dynamics occurred despite comparable task performance between groups, indicating that an altered balance of cortical activity might be a core aspect of stuttering, observable during normal motor behavior. En ligne : https://dx.doi.org/10.1186/s11689-023-09507-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task [texte imprimé] / Valeria C. CARUSO, Auteur ; Amanda Hampton WRAY, Auteur ; Erica LESCHT, Auteur ; Soo-Eun CHANG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adult  Humans  Child  Stuttering  Speech  Beta oscillations  Eeg  Motor processing  Neural oscillations  Stuttering Index. décimale : PER Périodiques Résumé : BACKGROUND: Neural motor control rests on the dynamic interaction of cortical and subcortical regions, which is reflected in the modulation of oscillatory activity and connectivity in multiple frequency bands. Motor control is thought to be compromised in developmental stuttering, particularly involving circuits in the left hemisphere that support speech, movement initiation, and timing control. However, to date, evidence comes from adult studies, with a limited understanding of motor processes in childhood, closer to the onset of stuttering. METHODS: We investigated the neural control of movement initiation in children who stutter and children who do not stutter by evaluating transient changes in EEG oscillatory activity (power, phase locking to button press) and connectivity (phase synchronization) during a simple button press motor task. We compared temporal changes in these oscillatory dynamics between the left and right hemispheres and between children who stutter and children who do not stutter, using mixed-model analysis of variance. RESULTS: We found reduced modulation of left hemisphere oscillatory power, phase locking to button press and phase connectivity in children who stutter compared to children who do not stutter, consistent with previous findings of dysfunction within the left sensorimotor circuits. Interhemispheric connectivity was weaker at lower frequencies (delta, theta) and stronger in the beta band in children who stutter than in children who do not stutter. CONCLUSIONS: Taken together, these findings indicate weaker engagement of the contralateral left motor network in children who stutter even during low-demand non-speech tasks, and suggest that the right hemisphere might be recruited to support sensorimotor processing in childhood stuttering. Differences in oscillatory dynamics occurred despite comparable task performance between groups, indicating that an altered balance of cortical activity might be a core aspect of stuttering, observable during normal motor behavior. En ligne : https://dx.doi.org/10.1186/s11689-023-09507-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Endophenotype trait domains for advancing gene discovery in autism spectrum disorder / Matthew W. MOSCONI in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Endophenotype trait domains for advancing gene discovery in autism spectrum disorder Type de document : texte imprimé Auteurs : Matthew W. MOSCONI, Auteur ; Cassandra J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Robin SHAFER, Auteur ; Jed T. ELISON, Auteur Langues : Anglais (eng) Mots-clés : Infant  Humans  Autism Spectrum Disorder/genetics  Endophenotypes  Language  Neurodevelopmental Disorders  Genetic Association Studies Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD. To address similar challenges, separate fields of medicine have identified endophenotypes, or discrete, quantitative traits that reflect genetic likelihood for a particular clinical condition and leveraged the study of these traits to map polygenic mechanisms and advance more personalized therapeutic strategies for complex diseases. Endophenotypes represent a distinct class of biomarkers useful for understanding genetic contributions to psychiatric and developmental disorders because they are embedded within the causal chain between genotype and clinical phenotype, and they are more proximal to the action of the gene(s) than behavioral traits. Despite their demonstrated power for guiding new understanding of complex genetic structures of clinical conditions, few endophenotypes associated with ASD have been identified and integrated into family genetic studies. In this review, we argue that advancing knowledge of the complex pathogenic processes that contribute to ASD can be accelerated by refocusing attention toward identifying endophenotypic traits reflective of inherited mechanisms. This pivot requires renewed emphasis on study designs with measurement of familial co-variation including infant sibling studies, family trio and quad designs, and analysis of monozygotic and dizygotic twin concordance for select trait dimensions. We also emphasize that clarification of endophenotypic traits necessarily will involve integration of transdiagnostic approaches as candidate traits likely reflect liability for multiple clinical conditions and often are agnostic to diagnostic boundaries. Multiple candidate endophenotypes associated with ASD likelihood are described, and we propose a new focus on the analysis of "endophenotype trait domains" (ETDs), or traits measured across multiple levels (e.g., molecular, cellular, neural system, neuropsychological) along the causal pathway from genes to behavior. To inform our central argument for research efforts toward ETD discovery, we first provide a brief review of the concept of endophenotypes and their application to psychiatry. Next, we highlight key criteria for determining the value of candidate endophenotypes, including unique considerations for the study of ASD. Descriptions of different study designs for assessing endophenotypes in ASD research then are offered, including analysis of how select patterns of results may help prioritize candidate traits in future research. We also present multiple candidate ETDs that collectively cover a breadth of clinical phenomena associated with ASD, including social, language/communication, cognitive control, and sensorimotor processes. These ETDs are described because they represent promising targets for gene discovery related to clinical autistic traits, and they serve as models for analysis of separate candidate domains that may inform understanding of inherited etiological processes associated with ASD as well as overlapping neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09511-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Endophenotype trait domains for advancing gene discovery in autism spectrum disorder [texte imprimé] / Matthew W. MOSCONI, Auteur ; Cassandra J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Robin SHAFER, Auteur ; Jed T. ELISON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Infant  Humans  Autism Spectrum Disorder/genetics  Endophenotypes  Language  Neurodevelopmental Disorders  Genetic Association Studies Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD. To address similar challenges, separate fields of medicine have identified endophenotypes, or discrete, quantitative traits that reflect genetic likelihood for a particular clinical condition and leveraged the study of these traits to map polygenic mechanisms and advance more personalized therapeutic strategies for complex diseases. Endophenotypes represent a distinct class of biomarkers useful for understanding genetic contributions to psychiatric and developmental disorders because they are embedded within the causal chain between genotype and clinical phenotype, and they are more proximal to the action of the gene(s) than behavioral traits. Despite their demonstrated power for guiding new understanding of complex genetic structures of clinical conditions, few endophenotypes associated with ASD have been identified and integrated into family genetic studies. In this review, we argue that advancing knowledge of the complex pathogenic processes that contribute to ASD can be accelerated by refocusing attention toward identifying endophenotypic traits reflective of inherited mechanisms. This pivot requires renewed emphasis on study designs with measurement of familial co-variation including infant sibling studies, family trio and quad designs, and analysis of monozygotic and dizygotic twin concordance for select trait dimensions. We also emphasize that clarification of endophenotypic traits necessarily will involve integration of transdiagnostic approaches as candidate traits likely reflect liability for multiple clinical conditions and often are agnostic to diagnostic boundaries. Multiple candidate endophenotypes associated with ASD likelihood are described, and we propose a new focus on the analysis of "endophenotype trait domains" (ETDs), or traits measured across multiple levels (e.g., molecular, cellular, neural system, neuropsychological) along the causal pathway from genes to behavior. To inform our central argument for research efforts toward ETD discovery, we first provide a brief review of the concept of endophenotypes and their application to psychiatry. Next, we highlight key criteria for determining the value of candidate endophenotypes, including unique considerations for the study of ASD. Descriptions of different study designs for assessing endophenotypes in ASD research then are offered, including analysis of how select patterns of results may help prioritize candidate traits in future research. We also present multiple candidate ETDs that collectively cover a breadth of clinical phenomena associated with ASD, including social, language/communication, cognitive control, and sensorimotor processes. These ETDs are described because they represent promising targets for gene discovery related to clinical autistic traits, and they serve as models for analysis of separate candidate domains that may inform understanding of inherited etiological processes associated with ASD as well as overlapping neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-023-09511-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis / L.A. JENNER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis Type de document : texte imprimé Auteurs : L.A. JENNER, Auteur ; E.K. FARRAN, Auteur ; A. WELHAM, Auteur ; C. JONES, Auteur ; J. MOSS, Auteur Langues : Anglais (eng) Mots-clés : Humans  Eye-Tracking Technology  Autism Spectrum Disorder/psychology  Intellectual Disability/complications  Social Cognition  Social Skills  Autism  Eye-tracking  Genetic syndromes  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive tasks place a demand on domain-general cognition and language abilities. These tasks are not suitable for people with ID and lack the sensitivity to detect subtle social-cognitive processes. In autism research, eye-tracking technology has offered an effective method of evaluating social cognition-indicating associations between visual social attention and autism characteristics. The present systematic review synthesised research which has used eye-tracking technology to study social cognition in ID. A meta-analysis was used to explore whether visual attention on socially salient regions (SSRs) of stimuli during these tasks correlated with degree of autism characteristics presented on clinical assessment tools. METHOD: Searches were conducted using four databases, research mailing lists, and citation tracking. Following in-depth screening and exclusion of studies with low methodological quality, 49 articles were included in the review. A correlational meta-analysis was run on Pearson's r values obtained from twelve studies, reporting the relationship between visual attention on SSRs and autism characteristics. RESULTS AND CONCLUSIONS: Eye-tracking technology was used to measure different social-cognitive abilities across a range of syndromic and non-syndromic ID groups. Restricted scan paths and eye-region avoidance appeared to impact people's ability to make explicit inferences about mental states and social cues. Readiness to attend to social stimuli also varied depending on social content and degree of familiarity. A meta-analysis using a random effects model revealed a significant negative correlation (r = -.28, [95% CI -.47, -.08]) between visual attention on SSRs and autism characteristics across ID groups. Together, these findings highlight how eye-tracking can be used as an accessible tool to measure more subtle social-cognitive processes, which appear to reflect variability in observable behaviour. Further research is needed to be able to explore additional covariates (e.g. ID severity, ADHD, anxiety) which may be related to visual attention on SSRs, to different degrees within syndromic and non-syndromic ID groups, in order to determine the specificity of the association with autism characteristics. En ligne : https://dx.doi.org/10.1186/s11689-023-09506-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis [texte imprimé] / L.A. JENNER, Auteur ; E.K. FARRAN, Auteur ; A. WELHAM, Auteur ; C. JONES, Auteur ; J. MOSS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Eye-Tracking Technology  Autism Spectrum Disorder/psychology  Intellectual Disability/complications  Social Cognition  Social Skills  Autism  Eye-tracking  Genetic syndromes  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive tasks place a demand on domain-general cognition and language abilities. These tasks are not suitable for people with ID and lack the sensitivity to detect subtle social-cognitive processes. In autism research, eye-tracking technology has offered an effective method of evaluating social cognition-indicating associations between visual social attention and autism characteristics. The present systematic review synthesised research which has used eye-tracking technology to study social cognition in ID. A meta-analysis was used to explore whether visual attention on socially salient regions (SSRs) of stimuli during these tasks correlated with degree of autism characteristics presented on clinical assessment tools. METHOD: Searches were conducted using four databases, research mailing lists, and citation tracking. Following in-depth screening and exclusion of studies with low methodological quality, 49 articles were included in the review. A correlational meta-analysis was run on Pearson's r values obtained from twelve studies, reporting the relationship between visual attention on SSRs and autism characteristics. RESULTS AND CONCLUSIONS: Eye-tracking technology was used to measure different social-cognitive abilities across a range of syndromic and non-syndromic ID groups. Restricted scan paths and eye-region avoidance appeared to impact people's ability to make explicit inferences about mental states and social cues. Readiness to attend to social stimuli also varied depending on social content and degree of familiarity. A meta-analysis using a random effects model revealed a significant negative correlation (r = -.28, [95% CI -.47, -.08]) between visual attention on SSRs and autism characteristics across ID groups. Together, these findings highlight how eye-tracking can be used as an accessible tool to measure more subtle social-cognitive processes, which appear to reflect variability in observable behaviour. Further research is needed to be able to explore additional covariates (e.g. ID severity, ADHD, anxiety) which may be related to visual attention on SSRs, to different degrees within syndromic and non-syndromic ID groups, in order to determine the specificity of the association with autism characteristics. En ligne : https://dx.doi.org/10.1186/s11689-023-09506-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

The association between cardiovascular health and cognition in adults with Down syndrome / Lauren FRANK in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : The association between cardiovascular health and cognition in adults with Down syndrome Type de document : texte imprimé Auteurs : Lauren FRANK, Auteur ; Brian HELSEL, Auteur ; Danica DODD, Auteur ; Amy E. BODDE, Auteur ; Jessica C. DANON, Auteur ; Joseph R. SHERMAN, Auteur ; Daniel E. FORSHA, Auteur ; Amanda SZABO-REED, Auteur ; Richard A. WASHBURN, Auteur ; Joseph E. DONNELLY, Auteur ; Lauren T. PTOMEY, Auteur Langues : Anglais (eng) Mots-clés : Adult  Humans  Female  Male  Down Syndrome/complications  Cross-Sectional Studies  Exercise/physiology  Cardiorespiratory Fitness/physiology  Cognition  Alzheimer’s disease  Blood pressure  Dementia  Down syndrome  Exercise  Fitness  Intellectual disabilities  Physical activity Index. décimale : PER Périodiques Résumé : INTRODUCTION: Evidence in the general population suggests that predictors of cardiovascular health such as moderate to vigorous physical activity (MVPA), cardiorespiratory fitness, and systolic blood pressure are associated with cognitive function. Studies supporting these associations in adults with Down syndrome (DS) are limited. The purpose of this study was to examine the associations between systolic blood pressure, cardiorespiratory fitness, and MVPA on cognition in adults with DS. METHODS: This is a cross-sectional analysis using baseline data from a trial in adults with DS. Participants attended a laboratory visit where resting blood pressure, cardiorespiratory fitness (VO(2 Peak)), and cognitive function (CANTAB® DS Battery) were obtained. The cognitive battery included tests measuring multitasking, episodic memory, and reaction time. Physical activity (accelerometer) was collected over the week following the laboratory visit. Pearson correlations and linear regressions were used to measure the impact of systolic blood pressure, cardiorespiratory fitness, and MVPA on cognitive outcomes. RESULTS: Complete data was available for 72 adults with DS (26.8 ± 9.3 years of age, 57% female). At baseline, VO(2 Peak) (21.1 ± 4.2 ml/kg/min) and MVPA were low (14.4 ± 14.4 min/day), and systolic blood pressure was 118.3 ± 13.3 mmHg. VO(2 Peak) was correlated with simple movement time (rho =  - 0.28, p = 0.03) but was not significant using a linear regression controlling for age and sex. Systolic blood pressure was significantly associated with episodic memory (first attempt memory score: β =  - 0.11, p = 0.002; total errors: β = 0.58, p = 0.001) and reaction time (five-choice movement time: β = 4.11, p = 0.03; simple movement time: β = 6.14, p = 0.005) using age- and sex-adjusted linear regressions. No associations were observed between MVPA and multitasking, episodic memory, or reaction time. CONCLUSION: Predictors of cardiovascular health, including cardiorespiratory fitness and systolic blood pressure, were associated with some aspects of cognition in adults with DS. While future research should examine the role of improved cardiovascular health on delaying decreases in cognitive function and dementia in adults with DS, we recommend that health care providers convey the importance of exercise and cardiovascular health to their patients with DS. TRIAL REGISTRATION: NCT04048759, registered on August 7, 2019. En ligne : https://dx.doi.org/10.1186/s11689-023-09510-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] The association between cardiovascular health and cognition in adults with Down syndrome [texte imprimé] / Lauren FRANK, Auteur ; Brian HELSEL, Auteur ; Danica DODD, Auteur ; Amy E. BODDE, Auteur ; Jessica C. DANON, Auteur ; Joseph R. SHERMAN, Auteur ; Daniel E. FORSHA, Auteur ; Amanda SZABO-REED, Auteur ; Richard A. WASHBURN, Auteur ; Joseph E. DONNELLY, Auteur ; Lauren T. PTOMEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adult  Humans  Female  Male  Down Syndrome/complications  Cross-Sectional Studies  Exercise/physiology  Cardiorespiratory Fitness/physiology  Cognition  Alzheimer’s disease  Blood pressure  Dementia  Down syndrome  Exercise  Fitness  Intellectual disabilities  Physical activity Index. décimale : PER Périodiques Résumé : INTRODUCTION: Evidence in the general population suggests that predictors of cardiovascular health such as moderate to vigorous physical activity (MVPA), cardiorespiratory fitness, and systolic blood pressure are associated with cognitive function. Studies supporting these associations in adults with Down syndrome (DS) are limited. The purpose of this study was to examine the associations between systolic blood pressure, cardiorespiratory fitness, and MVPA on cognition in adults with DS. METHODS: This is a cross-sectional analysis using baseline data from a trial in adults with DS. Participants attended a laboratory visit where resting blood pressure, cardiorespiratory fitness (VO(2 Peak)), and cognitive function (CANTAB® DS Battery) were obtained. The cognitive battery included tests measuring multitasking, episodic memory, and reaction time. Physical activity (accelerometer) was collected over the week following the laboratory visit. Pearson correlations and linear regressions were used to measure the impact of systolic blood pressure, cardiorespiratory fitness, and MVPA on cognitive outcomes. RESULTS: Complete data was available for 72 adults with DS (26.8 ± 9.3 years of age, 57% female). At baseline, VO(2 Peak) (21.1 ± 4.2 ml/kg/min) and MVPA were low (14.4 ± 14.4 min/day), and systolic blood pressure was 118.3 ± 13.3 mmHg. VO(2 Peak) was correlated with simple movement time (rho =  - 0.28, p = 0.03) but was not significant using a linear regression controlling for age and sex. Systolic blood pressure was significantly associated with episodic memory (first attempt memory score: β =  - 0.11, p = 0.002; total errors: β = 0.58, p = 0.001) and reaction time (five-choice movement time: β = 4.11, p = 0.03; simple movement time: β = 6.14, p = 0.005) using age- and sex-adjusted linear regressions. No associations were observed between MVPA and multitasking, episodic memory, or reaction time. CONCLUSION: Predictors of cardiovascular health, including cardiorespiratory fitness and systolic blood pressure, were associated with some aspects of cognition in adults with DS. While future research should examine the role of improved cardiovascular health on delaying decreases in cognitive function and dementia in adults with DS, we recommend that health care providers convey the importance of exercise and cardiovascular health to their patients with DS. TRIAL REGISTRATION: NCT04048759, registered on August 7, 2019. En ligne : https://dx.doi.org/10.1186/s11689-023-09510-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales / Sabrina HORVATH in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales Type de document : texte imprimé Auteurs : Sabrina HORVATH, Auteur ; Sudha ARUNACHALAM, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Autistic Disorder  Vocabulary  Linguistics  Fixation, Ocular  Aptitude  Language Development Disorders  Assessment  Autism spectrum disorder  Eye-tracking  Late talkers  Verbs Index. décimale : PER Périodiques Résumé : PURPOSE: Using eye-tracking, we assessed the receptive verb vocabularies of age-matched late talkers and typically developing children (experiment 1) and autistic preschoolers (experiment 2). We evaluated how many verbs participants knew and how quickly they processed the linguistic prompt. Our goal is to explore how these eye-gaze measures can be operationalized to capture verb knowledge in late talkers and autistic children. METHOD: Participants previewed two dynamic scenes side-by-side (e.g., "stretching" and "clapping") and were then prompted to find the target verb's referent. Children's eye-gaze behaviors were operationalized using established approaches in the field with modifications in consideration for the type of stimuli (dynamic scenes versus static images) and the populations included. Accuracy was calculated as a proportion of time spent looking to the target, and linguistic processing was operationalized as latency of children's first look to the target. RESULTS: In experiment 1, there were no group differences in the proportion of verbs known, but late talkers required longer to demonstrate their knowledge than typically developing children. Latency was predicted by age but not language abilities. In experiment 2, autistic children's accuracy and latency were both predicted by receptive language abilities. CONCLUSION: Eye gaze can be used to assess receptive verb vocabulary in a variety of populations, but in operationalizing gaze behavior, we must account for between- and within-group differences. Bootstrapped cluster-permutation analysis is one way to create individualized measures of children's gaze behavior, but more research is warranted using an individual differences approach with this type of analysis. En ligne : https://dx.doi.org/10.1186/s11689-023-09512-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales [texte imprimé] / Sabrina HORVATH, Auteur ; Sudha ARUNACHALAM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child  Humans  Autistic Disorder  Vocabulary  Linguistics  Fixation, Ocular  Aptitude  Language Development Disorders  Assessment  Autism spectrum disorder  Eye-tracking  Late talkers  Verbs Index. décimale : PER Périodiques Résumé : PURPOSE: Using eye-tracking, we assessed the receptive verb vocabularies of age-matched late talkers and typically developing children (experiment 1) and autistic preschoolers (experiment 2). We evaluated how many verbs participants knew and how quickly they processed the linguistic prompt. Our goal is to explore how these eye-gaze measures can be operationalized to capture verb knowledge in late talkers and autistic children. METHOD: Participants previewed two dynamic scenes side-by-side (e.g., "stretching" and "clapping") and were then prompted to find the target verb's referent. Children's eye-gaze behaviors were operationalized using established approaches in the field with modifications in consideration for the type of stimuli (dynamic scenes versus static images) and the populations included. Accuracy was calculated as a proportion of time spent looking to the target, and linguistic processing was operationalized as latency of children's first look to the target. RESULTS: In experiment 1, there were no group differences in the proportion of verbs known, but late talkers required longer to demonstrate their knowledge than typically developing children. Latency was predicted by age but not language abilities. In experiment 2, autistic children's accuracy and latency were both predicted by receptive language abilities. CONCLUSION: Eye gaze can be used to assess receptive verb vocabulary in a variety of populations, but in operationalizing gaze behavior, we must account for between- and within-group differences. Bootstrapped cluster-permutation analysis is one way to create individualized measures of children's gaze behavior, but more research is warranted using an individual differences approach with this type of analysis. En ligne : https://dx.doi.org/10.1186/s11689-023-09512-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575