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

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition / Angela GWALTNEY in Journal of Autism and Developmental Disorders, 54-10 (October 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-10 (October 2024) . - p.3863-3887 Titre : Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition Type de document : texte imprimé Auteurs : Angela GWALTNEY, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur ; Anjali SADHWANI, Auteur ; Anne WHEELER, Auteur Article en page(s) : p.3863-3887 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains. En ligne : https://doi.org/10.1007/s10803-023-06090-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536 [article] Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition [texte imprimé] / Angela GWALTNEY, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur ; Anjali SADHWANI, Auteur ; Anne WHEELER, Auteur . - p.3863-3887. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-10 (October 2024) . - p.3863-3887 Index. décimale : PER Périodiques Résumé : In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains. En ligne : https://doi.org/10.1007/s10803-023-06090-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536

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

Developmental milestones and daily living skills in individuals with Angelman syndrome / Anjali SADHWANI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental milestones and daily living skills in individuals with Angelman syndrome Type de document : texte imprimé Auteurs : Anjali SADHWANI, Auteur ; Sonya POWERS, Auteur ; Anne WHEELER, Auteur ; Hillary MILLER, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Carlos A. BACINO, Auteur ; Steven A. SKINNER, Auteur ; Logan K. WINK, Auteur ; Craig A. ERICKSON, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/physiopathology/genetics/complications  Activities of Daily Living  Female  Child, Preschool  Male  Child  Adolescent  Infant  Child Development/physiology  Longitudinal Studies  Motor Skills/physiology  Developmental Disabilities/etiology  Adult  Young Adult  Child development  Developmental disabilities  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. En ligne : https://dx.doi.org/10.1186/s11689-024-09548-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental milestones and daily living skills in individuals with Angelman syndrome [texte imprimé] / Anjali SADHWANI, Auteur ; Sonya POWERS, Auteur ; Anne WHEELER, Auteur ; Hillary MILLER, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Carlos A. BACINO, Auteur ; Steven A. SKINNER, Auteur ; Logan K. WINK, Auteur ; Craig A. ERICKSON, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Angelman Syndrome/physiopathology/genetics/complications  Activities of Daily Living  Female  Child, Preschool  Male  Child  Adolescent  Infant  Child Development/physiology  Longitudinal Studies  Motor Skills/physiology  Developmental Disabilities/etiology  Adult  Young Adult  Child development  Developmental disabilities  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. En ligne : https://dx.doi.org/10.1186/s11689-024-09548-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III / Anne WHEELER ; Angela GWALTNEY ; Sarika U. PETERS ; Rene L. BARBIERI-WELGE ; Lucia T. HOROWITZ ; Lisa M. NOLL ; Rachel J. HUNDLEY ; Lynne M. BIRD ; Wen-Hann TAN in Journal of Autism and Developmental Disorders, 53-2 (February 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.720-737 Titre : Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III Type de document : texte imprimé Auteurs : Anne WHEELER, Auteur ; Angela GWALTNEY, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur Article en page(s) : p.720-737 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar. En ligne : https://doi.org/10.1007/s10803-020-04861-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495 [article] Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III [texte imprimé] / Anne WHEELER, Auteur ; Angela GWALTNEY, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur . - p.720-737. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.720-737 Index. décimale : PER Périodiques Résumé : We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar. En ligne : https://doi.org/10.1007/s10803-020-04861-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495

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)  

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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)  

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