Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study / Hanna DEN BAKKER in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 32p. Titre : Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study Type de document : texte imprimé Auteurs : Hanna DEN BAKKER, Auteur ; Michael S. SIDOROV, Auteur ; Zheng FAN, Auteur ; David J. LEE, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin 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 [article] Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study [texte imprimé] / Hanna DEN BAKKER, Auteur ; Michael S. SIDOROV, Auteur ; Zheng FAN, Auteur ; David J. LEE, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin 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

Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome / Caleigh D. GUOYNES in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome Type de document : texte imprimé Auteurs : Caleigh D. GUOYNES, Auteur ; Grace PAVALKO, Auteur ; Michael S. SIDOROV, Auteur Langues : Anglais (eng) Mots-clés : Angelman syndrome  Behavior  Ube3a  Ultrasonic vocalizations  protocols were approved by and performed in accordance with the relevant  guidelines and regulations of the Institutional Animal Care and Use Committee of  Children’s National Hospital and were in compliance with the US National Research  Council’s Guide for the Care and Use of Laboratory Animals, the US Public Health  Service’s Policy on Humane Care and Use of Laboratory Animals, and Guide for the  Care and Use of Laboratory Animals. Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on daily life for patients and caregivers. To evaluate new therapies for AS, it is crucial to have a mouse model that characterizes meaningful clinical features. Vocalizations are used in many contexts in mice, including pup retrieval, social interactions, courtship, and distress. Previous work in the Ube3a(m−/p+) mouse model of AS found abnormalities in the number of ultrasonic vocalizations (USVs) mice produced during pup isolation and same-sex social interactions. Here, we evaluated Ube3a(m−/p+) vocalizations during courtship and distress. Quantifying USVs in these contexts enables comparison of USVs in social (courtship) and non-social (distress) settings. In addition, we assessed the utility of incorporating USV testing into existing Ube3a(m−/p+) mouse behavioral assessments used to evaluate potential AS treatments. METHODS: We used multiple behavioral paradigms to evaluate courtship vocalizations and tail suspension tests to evaluate distress vocalizations in adult wild-type (WT) and Ube3a(m−/p+) littermates, and quantified USV properties using the program DeepSqueak. A subset of mice also performed an established Ube3a(m−/p+) behavioral battery that included rotarod, open field, marble burying, and nest building. We used principal component analysis to evaluate the value of USV testing in this cohort in the context of other behaviors. RESULTS: In both social courtship and nonsocial distress behavioral paradigms, Ube3a(m−/p+) mice made fewer USVs compared to WT mice. Spectral properties of USVs were abnormal in Ube3a(m−/p+) mice on courtship tests but mostly typical on distress tests. Including USVs in the Ube3a(m−/p+) mouse behavior battery increased the distance between Ube3a(m−/p+) and WT clusters in principal component space. CONCLUSIONS: Ube3a(m−/p+) mice have disrupted USV production in social and nonsocial contexts. Spectral properties of USVs are most impacted in the social courtship context. Adding USVs to the Ube3a(m−/p+) behavior battery may improve sensitivity to detect group differences and changes in communication. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09648-y. En ligne : https://dx.doi.org/10.1186/s11689-025-09648-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome [texte imprimé] / Caleigh D. GUOYNES, Auteur ; Grace PAVALKO, Auteur ; Michael S. SIDOROV, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Angelman syndrome  Behavior  Ube3a  Ultrasonic vocalizations  protocols were approved by and performed in accordance with the relevant  guidelines and regulations of the Institutional Animal Care and Use Committee of  Children’s National Hospital and were in compliance with the US National Research  Council’s Guide for the Care and Use of Laboratory Animals, the US Public Health  Service’s Policy on Humane Care and Use of Laboratory Animals, and Guide for the  Care and Use of Laboratory Animals. Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on daily life for patients and caregivers. To evaluate new therapies for AS, it is crucial to have a mouse model that characterizes meaningful clinical features. Vocalizations are used in many contexts in mice, including pup retrieval, social interactions, courtship, and distress. Previous work in the Ube3a(m−/p+) mouse model of AS found abnormalities in the number of ultrasonic vocalizations (USVs) mice produced during pup isolation and same-sex social interactions. Here, we evaluated Ube3a(m−/p+) vocalizations during courtship and distress. Quantifying USVs in these contexts enables comparison of USVs in social (courtship) and non-social (distress) settings. In addition, we assessed the utility of incorporating USV testing into existing Ube3a(m−/p+) mouse behavioral assessments used to evaluate potential AS treatments. METHODS: We used multiple behavioral paradigms to evaluate courtship vocalizations and tail suspension tests to evaluate distress vocalizations in adult wild-type (WT) and Ube3a(m−/p+) littermates, and quantified USV properties using the program DeepSqueak. A subset of mice also performed an established Ube3a(m−/p+) behavioral battery that included rotarod, open field, marble burying, and nest building. We used principal component analysis to evaluate the value of USV testing in this cohort in the context of other behaviors. RESULTS: In both social courtship and nonsocial distress behavioral paradigms, Ube3a(m−/p+) mice made fewer USVs compared to WT mice. Spectral properties of USVs were abnormal in Ube3a(m−/p+) mice on courtship tests but mostly typical on distress tests. Including USVs in the Ube3a(m−/p+) mouse behavior battery increased the distance between Ube3a(m−/p+) and WT clusters in principal component space. CONCLUSIONS: Ube3a(m−/p+) mice have disrupted USV production in social and nonsocial contexts. Spectral properties of USVs are most impacted in the social courtship context. Adding USVs to the Ube3a(m−/p+) behavior battery may improve sensitivity to detect group differences and changes in communication. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09648-y. En ligne : https://dx.doi.org/10.1186/s11689-025-09648-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis / Michael S. SIDOROV in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.17 Titre : Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis Type de document : texte imprimé Auteurs : Michael S. SIDOROV, Auteur ; Gina M. DECK, Auteur ; Marjan DOLATSHAHI, Auteur ; Ronald L. THIBERT, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin D. PHILPOT, Auteur Article en page(s) : p.17 Langues : Anglais (eng) Mots-clés : Angelman syndrome  Biomarker  Delta  Eeg  Mouse model  Outcome measure  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. METHODS: We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population. RESULTS: Delta power was broadly increased and more dynamic in both the Angelman syndrome mouse model, relative to wild-type littermates, and in children with Angelman syndrome, relative to age-matched neurotypical controls. Enhanced delta oscillations in children with Angelman syndrome were present during wakefulness and sleep, were generalized across the neocortex, and were more pronounced at earlier ages. CONCLUSIONS: Delta rhythmicity phenotypes can serve as reliable biomarkers for Angelman syndrome in both preclinical and clinical settings. En ligne : http://dx.doi.org/10.1186/s11689-017-9195-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis [texte imprimé] / Michael S. SIDOROV, Auteur ; Gina M. DECK, Auteur ; Marjan DOLATSHAHI, Auteur ; Ronald L. THIBERT, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin D. PHILPOT, Auteur . - p.17. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.17 Mots-clés : Angelman syndrome  Biomarker  Delta  Eeg  Mouse model  Outcome measure  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. METHODS: We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population. RESULTS: Delta power was broadly increased and more dynamic in both the Angelman syndrome mouse model, relative to wild-type littermates, and in children with Angelman syndrome, relative to age-matched neurotypical controls. Enhanced delta oscillations in children with Angelman syndrome were present during wakefulness and sleep, were generalized across the neocortex, and were more pronounced at earlier ages. CONCLUSIONS: Delta rhythmicity phenotypes can serve as reliable biomarkers for Angelman syndrome in both preclinical and clinical settings. En ligne : http://dx.doi.org/10.1186/s11689-017-9195-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis / Michael S. SIDOROV in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.30 Titre : Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis Type de document : texte imprimé Auteurs : Michael S. SIDOROV, Auteur ; Gina M. DECK, Auteur ; Marjan DOLATSHAHI, Auteur ; Ronald L. THIBERT, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin D. PHILPOT, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-017-9195-8.]. En ligne : http://dx.doi.org/10.1186/s11689-017-9210-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis [texte imprimé] / Michael S. SIDOROV, Auteur ; Gina M. DECK, Auteur ; Marjan DOLATSHAHI, Auteur ; Ronald L. THIBERT, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin D. PHILPOT, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.30 Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-017-9195-8.]. En ligne : http://dx.doi.org/10.1186/s11689-017-9210-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep / Yuval LEVIN in Autism Research, 15-6 (June 2022)  

Public ISBD [article]  inAutism Research > 15-6 (June 2022) . - p.1031-1042 Titre : Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep Type de document : texte imprimé 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 [article] Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep [texte imprimé] / 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

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