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23 recherche sur le mot-clé 'Angelman syndrome'
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Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep / Yuval LEVIN in Autism Research, 15-6 (June 2022)
[article]
Titre : Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep Type de document : Texte imprimé et/ou numérique Auteurs : Yuval LEVIN, Auteur ; Nishitha S. HOSAMANE, Auteur ; Taylor E. MCNAIR, Auteur ; Shrujana S. KUNNAM, Auteur ; Benjamin D. PHILPOT, Auteur ; Zheng FAN, Auteur ; Michael S. SIDOROV, Auteur Article en page(s) : p.1031-1042 Langues : Anglais (eng) Mots-clés : Angelman Syndrome/complications/diagnosis/genetics Autism Spectrum Disorder Biomarkers Electroencephalography Humans Retrospective Studies Sleep/physiology Angelman syndrome Eeg biomarker delta sleep spindle Medpace, Inc. for EEG analysis. Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a neurodevelopmental disorder caused by loss-of-function mutations in the maternal copy of the UBE3A gene. AS is characterized by intellectual disability, impaired speech and motor skills, epilepsy, and sleep disruptions. Multiple treatment strategies to re-express functional neuronal UBE3A from the dormant paternal allele were successful in rodent models of AS and have now moved to early phase clinical trials in children. Developing reliable and objective AS biomarkers is essential to guide the design and execution of current and future clinical trials. Our prior work quantified short daytime electroencephalograms (EEGs) to define promising biomarkers for AS. Here, we asked whether overnight sleep is better suited to detect AS EEG biomarkers. We retrospectively analyzed EEGs from 12 overnight sleep studies from individuals with AS with age and sex-matched Down syndrome and neurotypical controls, focusing on low frequency (2-4?Hz) delta rhythms and sleep spindles. Delta EEG rhythms were increased in individuals with AS during all stages of overnight sleep, but overnight sleep did not provide additional benefit over wake in the ability to detect increased delta. Abnormal sleep spindles were not reliably detected in EEGs from individuals with AS during overnight sleep, suggesting that delta rhythms represent a more reliable biomarker. Overall, we conclude that periods of wakefulness are sufficient, and perhaps ideal, to quantify delta EEG rhythms for use as AS biomarkers. LAY SUMMARY: Electroencephalography (EEG) is a safe and reliable way of measuring abnormal brain activity in Angelman syndrome. We found that low-frequency "delta" EEG rhythms are increased in individuals with Angelman syndrome during all stages of overnight sleep. Delta rhythms can be used as a tool to measure improvement in future clinical trials. En ligne : http://dx.doi.org/10.1002/aur.2709 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476
in Autism Research > 15-6 (June 2022) . - p.1031-1042[article] Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep [Texte imprimé et/ou numérique] / Yuval LEVIN, Auteur ; Nishitha S. HOSAMANE, Auteur ; Taylor E. MCNAIR, Auteur ; Shrujana S. KUNNAM, Auteur ; Benjamin D. PHILPOT, Auteur ; Zheng FAN, Auteur ; Michael S. SIDOROV, Auteur . - p.1031-1042.
Langues : Anglais (eng)
in Autism Research > 15-6 (June 2022) . - p.1031-1042
Mots-clés : Angelman Syndrome/complications/diagnosis/genetics Autism Spectrum Disorder Biomarkers Electroencephalography Humans Retrospective Studies Sleep/physiology Angelman syndrome Eeg biomarker delta sleep spindle Medpace, Inc. for EEG analysis. Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a neurodevelopmental disorder caused by loss-of-function mutations in the maternal copy of the UBE3A gene. AS is characterized by intellectual disability, impaired speech and motor skills, epilepsy, and sleep disruptions. Multiple treatment strategies to re-express functional neuronal UBE3A from the dormant paternal allele were successful in rodent models of AS and have now moved to early phase clinical trials in children. Developing reliable and objective AS biomarkers is essential to guide the design and execution of current and future clinical trials. Our prior work quantified short daytime electroencephalograms (EEGs) to define promising biomarkers for AS. Here, we asked whether overnight sleep is better suited to detect AS EEG biomarkers. We retrospectively analyzed EEGs from 12 overnight sleep studies from individuals with AS with age and sex-matched Down syndrome and neurotypical controls, focusing on low frequency (2-4?Hz) delta rhythms and sleep spindles. Delta EEG rhythms were increased in individuals with AS during all stages of overnight sleep, but overnight sleep did not provide additional benefit over wake in the ability to detect increased delta. Abnormal sleep spindles were not reliably detected in EEGs from individuals with AS during overnight sleep, suggesting that delta rhythms represent a more reliable biomarker. Overall, we conclude that periods of wakefulness are sufficient, and perhaps ideal, to quantify delta EEG rhythms for use as AS biomarkers. LAY SUMMARY: Electroencephalography (EEG) is a safe and reliable way of measuring abnormal brain activity in Angelman syndrome. We found that low-frequency "delta" EEG rhythms are increased in individuals with Angelman syndrome during all stages of overnight sleep. Delta rhythms can be used as a tool to measure improvement in future clinical trials. En ligne : http://dx.doi.org/10.1002/aur.2709 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 Gait as a quantitative translational outcome measure in Angelman syndrome / Stela P. PETKOVA in Autism Research, 15-5 (May 2022)
[article]
Titre : Gait as a quantitative translational outcome measure in Angelman syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Elizabeth L. BERG, Auteur ; Timothy A. FENTON, Auteur ; Jessica DUIS, Auteur ; Jill L. SILVERMAN, Auteur Article en page(s) : p.821-833 Langues : Anglais (eng) Mots-clés : Angelman Syndrome/genetics Animals Autism Spectrum Disorder Disease Models, Animal Gait/physiology Humans Mice Movement Disorders Muscle Hypotonia Outcome Assessment, Health Care Angelman syndrome animal models autism behavior gait genetics longitudinal motor mouse models neurodevelopment Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome measure in AS as they comprise a broad repertoire of metrics including ataxia, hypotonia, delayed ambulation, crouched gait, and poor posture, and motor dysfunction affects nearly every individual with AS. Guided by collaborative work with AS clinicians studying gait, the goal of this study was to perform an in-depth gait analysis using the automated treadmill assay, DigiGait. Our hypothesis is that gait presents a strong opportunity for a reliable, quantitative, and translational metric that can serve to evaluate novel pharmacological, dietary, and genetic therapies. In this study, we used an automated gait analysis system, in addition to standard motor behavioral assays, to evaluate components of motor, exploration, coordination, balance, and gait impairments across the lifespan in an AS mouse model. Our study demonstrated marked global motoric deficits in AS mice, corroborating previous reports. Uniquely, this is the first report of nuanced aberrations in quantitative spatial and temporal components of gait in AS mice compared to sex- and age-matched wildtype littermates followed longitudinally using metrics that are analogous in AS individuals. Our findings contribute evidence toward the use of nuanced motor outcomes (i.e., gait) as valuable and translationally powerful metrics for therapeutic development for AS, as well as other genetic neurodevelopmental syndromes. LAY SUMMARY: Movement disorders affect nearly every individual with Angelman Syndrome (AS). The most common motor problems include spasticity, ataxia of gait (observed in the majority of ambulatory individuals), tremor, and muscle weakness. This report focused on quantifying various spatial and temporal aspects of gait as a reliable, translatable outcome measure in a preclinical AS model longitudinally across development. By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, we will create more opportunities for identifying and advancing successful medical interventions. En ligne : http://dx.doi.org/10.1002/aur.2697 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473
in Autism Research > 15-5 (May 2022) . - p.821-833[article] Gait as a quantitative translational outcome measure in Angelman syndrome [Texte imprimé et/ou numérique] / Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Elizabeth L. BERG, Auteur ; Timothy A. FENTON, Auteur ; Jessica DUIS, Auteur ; Jill L. SILVERMAN, Auteur . - p.821-833.
Langues : Anglais (eng)
in Autism Research > 15-5 (May 2022) . - p.821-833
Mots-clés : Angelman Syndrome/genetics Animals Autism Spectrum Disorder Disease Models, Animal Gait/physiology Humans Mice Movement Disorders Muscle Hypotonia Outcome Assessment, Health Care Angelman syndrome animal models autism behavior gait genetics longitudinal motor mouse models neurodevelopment Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome measure in AS as they comprise a broad repertoire of metrics including ataxia, hypotonia, delayed ambulation, crouched gait, and poor posture, and motor dysfunction affects nearly every individual with AS. Guided by collaborative work with AS clinicians studying gait, the goal of this study was to perform an in-depth gait analysis using the automated treadmill assay, DigiGait. Our hypothesis is that gait presents a strong opportunity for a reliable, quantitative, and translational metric that can serve to evaluate novel pharmacological, dietary, and genetic therapies. In this study, we used an automated gait analysis system, in addition to standard motor behavioral assays, to evaluate components of motor, exploration, coordination, balance, and gait impairments across the lifespan in an AS mouse model. Our study demonstrated marked global motoric deficits in AS mice, corroborating previous reports. Uniquely, this is the first report of nuanced aberrations in quantitative spatial and temporal components of gait in AS mice compared to sex- and age-matched wildtype littermates followed longitudinally using metrics that are analogous in AS individuals. Our findings contribute evidence toward the use of nuanced motor outcomes (i.e., gait) as valuable and translationally powerful metrics for therapeutic development for AS, as well as other genetic neurodevelopmental syndromes. LAY SUMMARY: Movement disorders affect nearly every individual with Angelman Syndrome (AS). The most common motor problems include spasticity, ataxia of gait (observed in the majority of ambulatory individuals), tremor, and muscle weakness. This report focused on quantifying various spatial and temporal aspects of gait as a reliable, translatable outcome measure in a preclinical AS model longitudinally across development. By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, we will create more opportunities for identifying and advancing successful medical interventions. En ligne : http://dx.doi.org/10.1002/aur.2697 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 CIM6P/IGF-2 Receptor Ligands Reverse Deficits in Angelman Syndrome Model Mice / Emmanuel CRUZ in Autism Research, 14-1 (January 2021)
[article]
Titre : CIM6P/IGF-2 Receptor Ligands Reverse Deficits in Angelman Syndrome Model Mice Type de document : Texte imprimé et/ou numérique Auteurs : Emmanuel CRUZ, Auteur ; Giannina DESCALZI, Auteur ; Adam STEINMETZ, Auteur ; Helen E. SCHARFMAN, Auteur ; Aaron KATZMAN, Auteur ; Cristina M. ALBERINI, Auteur Article en page(s) : p.29-45 Langues : Anglais (eng) Mots-clés : Angelman syndrome Ube3a audiogenic seizure cation-independent mannose-6-phosphate receptor insulin-like growth factor 2 insulin-like growth factor 2 receptor mannose-6-phosphate memory motor response mouse model Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS), a genetic disorder that primarily affects the nervous system, is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy). No existing therapies are capable of comprehensively treating the deficits in AS; hence, there is an urgent need to identify new treatments. Here we show that insulin-like growth factor 2 (IGF-2) and mannose-6-phosphate (M6P), ligands of two independent binding sites of the cation-independent M6P/IGF-2 receptor (CIM6P/IGF-2R), reverse most major deficits of AS modeled in mice. Subcutaneous injection of IGF-2 or M6P in mice modeling AS restored cognitive impairments as assessed by measurements of contextual and recognition memories, motor deficits assessed by rotarod and hindlimb clasping, and working memory/flexibility measured by Y-maze. IGF-2 also corrected deficits in marble burying and significantly attenuated acoustically induced seizures. An observational battery of tests confirmed that neither ligand changed basic functions including physical characteristics, general behavioral responses, and sensory reflexes, indicating that they are relatively safe. Our data provide strong preclinical evidence that targeting CIM6P/IGF-2R is a promising approach for developing novel therapeutics for AS. LAY SUMMARY: There is no effective treatment for the neurodevelopmental disorder Angelman syndrome (AS). Using a validated AS mouse model, the Ube3a(m-/p+) , in this study we show that systemic administration of ligands of the cation independent mannose-6-phosphate receptor, also known as insulin-like growth factor 2 receptor (CIM6P/IGF-2R) reverses cognitive impairment, motor deficits, as well as seizures associated with AS. Thus, ligands that activate the CIM6P/IGF-2R may represent novel, potential therapeutic targets for AS. En ligne : http://dx.doi.org/10.1002/aur.2418 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=441
in Autism Research > 14-1 (January 2021) . - p.29-45[article] CIM6P/IGF-2 Receptor Ligands Reverse Deficits in Angelman Syndrome Model Mice [Texte imprimé et/ou numérique] / Emmanuel CRUZ, Auteur ; Giannina DESCALZI, Auteur ; Adam STEINMETZ, Auteur ; Helen E. SCHARFMAN, Auteur ; Aaron KATZMAN, Auteur ; Cristina M. ALBERINI, Auteur . - p.29-45.
Langues : Anglais (eng)
in Autism Research > 14-1 (January 2021) . - p.29-45
Mots-clés : Angelman syndrome Ube3a audiogenic seizure cation-independent mannose-6-phosphate receptor insulin-like growth factor 2 insulin-like growth factor 2 receptor mannose-6-phosphate memory motor response mouse model Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS), a genetic disorder that primarily affects the nervous system, is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy). No existing therapies are capable of comprehensively treating the deficits in AS; hence, there is an urgent need to identify new treatments. Here we show that insulin-like growth factor 2 (IGF-2) and mannose-6-phosphate (M6P), ligands of two independent binding sites of the cation-independent M6P/IGF-2 receptor (CIM6P/IGF-2R), reverse most major deficits of AS modeled in mice. Subcutaneous injection of IGF-2 or M6P in mice modeling AS restored cognitive impairments as assessed by measurements of contextual and recognition memories, motor deficits assessed by rotarod and hindlimb clasping, and working memory/flexibility measured by Y-maze. IGF-2 also corrected deficits in marble burying and significantly attenuated acoustically induced seizures. An observational battery of tests confirmed that neither ligand changed basic functions including physical characteristics, general behavioral responses, and sensory reflexes, indicating that they are relatively safe. Our data provide strong preclinical evidence that targeting CIM6P/IGF-2R is a promising approach for developing novel therapeutics for AS. LAY SUMMARY: There is no effective treatment for the neurodevelopmental disorder Angelman syndrome (AS). Using a validated AS mouse model, the Ube3a(m-/p+) , in this study we show that systemic administration of ligands of the cation independent mannose-6-phosphate receptor, also known as insulin-like growth factor 2 receptor (CIM6P/IGF-2R) reverses cognitive impairment, motor deficits, as well as seizures associated with AS. Thus, ligands that activate the CIM6P/IGF-2R may represent novel, potential therapeutic targets for AS. En ligne : http://dx.doi.org/10.1002/aur.2418 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=441 Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion / Andie DODGE in Autism Research, 13-3 (March 2020)
[article]
Titre : Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion Type de document : Texte imprimé et/ou numérique Auteurs : Andie DODGE, Auteur ; Melinda M. PETERS, Auteur ; Hayden E. GREENE, Auteur ; Clifton DIETRICK, Auteur ; Robert BOTELHO, Auteur ; Diana CHUNG, Auteur ; Jonathan WILLMAN, Auteur ; Austin W NENNINGER, Auteur ; Stephanie CIARLONE, Auteur ; Siddharth G. KAMATH, Auteur ; Pavel HOUDEK, Auteur ; Alena SUMOVA, Auteur ; Anne E. ANDERSON, Auteur ; Scott V. DINDOT, Auteur ; Elizabeth L. BERG, Auteur ; Henriette O'GEEN, Auteur ; David J. SEGAL, Auteur ; Jill L. SILVERMAN, Auteur ; Edwin J. WEEBER, Auteur ; Kevin R. NASH, Auteur Article en page(s) : p.397-409 Langues : Anglais (eng) Mots-clés : Angelman syndrome E6ap Ube3a cognitive deficits rat model Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene responsible for AS was identified as Ube3a and it encodes for E6AP, an E3 ubiquitin ligase. Currently, there is very little known about E6AP's mechanism of action in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. Elucidating the mechanistic action of E6AP would enhance our understanding of AS and drive current research into new avenues that could lead to novel therapeutic approaches that target E6AP's various functions. To facilitate the study of AS, we have generated a novel rat model in which we deleted the rat Ube3a gene using CRISPR. The AS rat phenotypically mirrors human AS with loss of Ube3a expression in the brain and deficits in motor coordination as well as learning and memory. This model offers a new avenue for the study of AS. Autism Res 2020, 13: 397-409. (c) 2020 International Society for Autism Research,Wiley Periodicals, Inc. LAY SUMMARY: Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, difficulty speaking, and ataxia. The gene responsible for AS was identified as UBE3A, yet very little is known about its function in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. To facilitate the study of AS, we have generated a novel rat model in which we deleted the rat Ube3a gene using CRISPR. The AS rat mirrors human AS with loss of Ube3a expression in the brain and deficits in motor coordination as well as learning and memory. This model offers a new avenue for the study of AS. En ligne : http://dx.doi.org/10.1002/aur.2267 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421
in Autism Research > 13-3 (March 2020) . - p.397-409[article] Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion [Texte imprimé et/ou numérique] / Andie DODGE, Auteur ; Melinda M. PETERS, Auteur ; Hayden E. GREENE, Auteur ; Clifton DIETRICK, Auteur ; Robert BOTELHO, Auteur ; Diana CHUNG, Auteur ; Jonathan WILLMAN, Auteur ; Austin W NENNINGER, Auteur ; Stephanie CIARLONE, Auteur ; Siddharth G. KAMATH, Auteur ; Pavel HOUDEK, Auteur ; Alena SUMOVA, Auteur ; Anne E. ANDERSON, Auteur ; Scott V. DINDOT, Auteur ; Elizabeth L. BERG, Auteur ; Henriette O'GEEN, Auteur ; David J. SEGAL, Auteur ; Jill L. SILVERMAN, Auteur ; Edwin J. WEEBER, Auteur ; Kevin R. NASH, Auteur . - p.397-409.
Langues : Anglais (eng)
in Autism Research > 13-3 (March 2020) . - p.397-409
Mots-clés : Angelman syndrome E6ap Ube3a cognitive deficits rat model Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene responsible for AS was identified as Ube3a and it encodes for E6AP, an E3 ubiquitin ligase. Currently, there is very little known about E6AP's mechanism of action in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. Elucidating the mechanistic action of E6AP would enhance our understanding of AS and drive current research into new avenues that could lead to novel therapeutic approaches that target E6AP's various functions. To facilitate the study of AS, we have generated a novel rat model in which we deleted the rat Ube3a gene using CRISPR. The AS rat phenotypically mirrors human AS with loss of Ube3a expression in the brain and deficits in motor coordination as well as learning and memory. This model offers a new avenue for the study of AS. Autism Res 2020, 13: 397-409. (c) 2020 International Society for Autism Research,Wiley Periodicals, Inc. LAY SUMMARY: Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, difficulty speaking, and ataxia. The gene responsible for AS was identified as UBE3A, yet very little is known about its function in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. To facilitate the study of AS, we have generated a novel rat model in which we deleted the rat Ube3a gene using CRISPR. The AS rat mirrors human AS with loss of Ube3a expression in the brain and deficits in motor coordination as well as learning and memory. This model offers a new avenue for the study of AS. En ligne : http://dx.doi.org/10.1002/aur.2267 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study / H. DEN BAKKER in Molecular Autism, 9 (2018)
[article]
Titre : Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study Type de document : Texte imprimé et/ou numérique Auteurs : H. DEN BAKKER, Auteur ; M. S. SIDOROV, Auteur ; Z. FAN, Auteur ; D. J. LEE, Auteur ; L. M. BIRD, Auteur ; C. J. CHU, Auteur ; B. D. PHILPOT, Auteur Article en page(s) : 32p. Langues : Anglais (eng) Mots-clés : Angelman Syndrome/physiopathology Case-Control Studies Child Delta Rhythm Female Gamma Rhythm Humans Male Sleep Stages Angelman syndrome Biomarker Coherence eeg Spindles UBE3A Index. décimale : PER Périodiques Résumé : Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS. Methods: We analyzed retrospective wake and sleep EEGs from children with AS (age 4-11) and age-matched neurotypical controls. We assessed long-range and short-range functional connectivity by measuring coherence across multiple frequencies during wake and sleep. We quantified sleep spindles using automated and manual approaches. Results: During wakefulness, children with AS showed enhanced long-range EEG coherence across a wide range of frequencies. During sleep, children with AS showed increased long-range EEG coherence specifically in the gamma band. EEGs from children with AS contained fewer sleep spindles, and these spindles were shorter in duration than their neurotypical counterparts. Conclusions: We demonstrate two quantitative readouts of dysregulated sleep composition in children with AS-gamma coherence and spindles-and describe how functional connectivity patterns may be disrupted during wakefulness. Quantitative EEG phenotypes have potential as biomarkers and readouts of target engagement for future clinical trials and provide clues into how neural circuits are dysregulated in children with AS. En ligne : https://dx.doi.org/10.1186/s13229-018-0214-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
in Molecular Autism > 9 (2018) . - 32p.[article] Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study [Texte imprimé et/ou numérique] / H. DEN BAKKER, Auteur ; M. S. SIDOROV, Auteur ; Z. FAN, Auteur ; D. J. LEE, Auteur ; L. M. BIRD, Auteur ; C. J. CHU, Auteur ; B. D. PHILPOT, Auteur . - 32p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 32p.
Mots-clés : Angelman Syndrome/physiopathology Case-Control Studies Child Delta Rhythm Female Gamma Rhythm Humans Male Sleep Stages Angelman syndrome Biomarker Coherence eeg Spindles UBE3A Index. décimale : PER Périodiques Résumé : Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS. Methods: We analyzed retrospective wake and sleep EEGs from children with AS (age 4-11) and age-matched neurotypical controls. We assessed long-range and short-range functional connectivity by measuring coherence across multiple frequencies during wake and sleep. We quantified sleep spindles using automated and manual approaches. Results: During wakefulness, children with AS showed enhanced long-range EEG coherence across a wide range of frequencies. During sleep, children with AS showed increased long-range EEG coherence specifically in the gamma band. EEGs from children with AS contained fewer sleep spindles, and these spindles were shorter in duration than their neurotypical counterparts. Conclusions: We demonstrate two quantitative readouts of dysregulated sleep composition in children with AS-gamma coherence and spindles-and describe how functional connectivity patterns may be disrupted during wakefulness. Quantitative EEG phenotypes have potential as biomarkers and readouts of target engagement for future clinical trials and provide clues into how neural circuits are dysregulated in children with AS. En ligne : https://dx.doi.org/10.1186/s13229-018-0214-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 Parent Description of Anxiety in Angelman Syndrome / Christopher J. KEARY in Journal of Autism and Developmental Disorders, 52-8 (August 2022)
PermalinkAbnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome / N. A. COPPING in Molecular Autism, 12 (2021)
PermalinkAssessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome / Monica SONZOGNI in Molecular Autism, 11 (2020)
PermalinkA behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants / M. SONZOGNI in Molecular Autism, 9 (2018)
PermalinkBehavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes / A. WATKINS in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
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