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

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome / Charlotte DISTEFANO in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Titre : Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome Type de document : texte imprimé Auteurs : Charlotte DISTEFANO, Auteur ; Amanda GULSRUD, Auteur ; Scott HUBERTY, Auteur ; Connie KASARI, Auteur ; Edwin COOK, Auteur ; Lawrence T. REITER, Auteur ; Ronald THIBERT, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome [texte imprimé] / Charlotte DISTEFANO, Auteur ; Amanda GULSRUD, Auteur ; Scott HUBERTY, Auteur ; Connie KASARI, Auteur ; Edwin COOK, Auteur ; Lawrence T. REITER, Auteur ; Ronald THIBERT, Auteur ; Shafali S. JESTE, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Parent Description of Anxiety in Angelman Syndrome / Christopher J. KEARY in Journal of Autism and Developmental Disorders, 52-8 (August 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3612-3625 Titre : Parent Description of Anxiety in Angelman Syndrome Type de document : texte imprimé Auteurs : Christopher J. KEARY, Auteur ; Jennifer E. MULLETT, Auteur ; Lisa A. NOWINSKI, Auteur ; Karyn WAGNER, Auteur ; Briana WALSH, Auteur ; Hannah K. SARO, Auteur ; Gillian ERHABOR, Auteur ; Ronald L. THIBERT, Auteur ; Christopher J. MCDOUGLE, Auteur ; Caitlin RAVICHANDRAN, Auteur Article en page(s) : p.3612-3625 Langues : Anglais (eng) Mots-clés : Angelman Syndrome/diagnosis  Anxiety  Autism Spectrum Disorder  Caregivers  Child  Humans  Parents  Psychiatric Status Rating Scales  Angelman syndrome  Hyperactivity  Irritability  Rating scale Index. décimale : PER Périodiques Résumé : Anxiety is being increasingly identified in Angelman syndrome (AS). Qualitative questions and quantitative assessments were used to evaluate for anxiety in 50 subjects with AS. In-person evaluations assessed behaviors concerning for anxiety and circumstances wherein they occurred. Caregivers completed anxiety and other behavioral rating scales. Caregiver responses were categorized and compared to items from anxiety rating scales. The most common behavioral manifestation of anxiety was "aggression." The most common circumstance was "separation from caregiver/parent." Subjects had elevated scores on anxiety, irritability and hyperactivity scales with lower mean scores among subjects with a maternal deletion. The Pediatric Anxiety Rating Scale best captured behaviors described by caregivers. Existing anxiety scales should be adapted for use in AS. En ligne : http://dx.doi.org/10.1007/s10803-021-05238-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 [article] Parent Description of Anxiety in Angelman Syndrome [texte imprimé] / Christopher J. KEARY, Auteur ; Jennifer E. MULLETT, Auteur ; Lisa A. NOWINSKI, Auteur ; Karyn WAGNER, Auteur ; Briana WALSH, Auteur ; Hannah K. SARO, Auteur ; Gillian ERHABOR, Auteur ; Ronald L. THIBERT, Auteur ; Christopher J. MCDOUGLE, Auteur ; Caitlin RAVICHANDRAN, Auteur . - p.3612-3625. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3612-3625 Mots-clés : Angelman Syndrome/diagnosis  Anxiety  Autism Spectrum Disorder  Caregivers  Child  Humans  Parents  Psychiatric Status Rating Scales  Angelman syndrome  Hyperactivity  Irritability  Rating scale Index. décimale : PER Périodiques Résumé : Anxiety is being increasingly identified in Angelman syndrome (AS). Qualitative questions and quantitative assessments were used to evaluate for anxiety in 50 subjects with AS. In-person evaluations assessed behaviors concerning for anxiety and circumstances wherein they occurred. Caregivers completed anxiety and other behavioral rating scales. Caregiver responses were categorized and compared to items from anxiety rating scales. The most common behavioral manifestation of anxiety was "aggression." The most common circumstance was "separation from caregiver/parent." Subjects had elevated scores on anxiety, irritability and hyperactivity scales with lower mean scores among subjects with a maternal deletion. The Pediatric Anxiety Rating Scale best captured behaviors described by caregivers. Existing anxiety scales should be adapted for use in AS. En ligne : http://dx.doi.org/10.1007/s10803-021-05238-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature / Nora URRACA in Autism Research, 6-4 (August 2013)  

Public ISBD [article]  inAutism Research > 6-4 (August 2013) . - p.268-279 Titre : The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature Type de document : texte imprimé Auteurs : Nora URRACA, Auteur ; Julie CLEARY, Auteur ; Victoria BREWER, Auteur ; Eniko K. PIVNICK, Auteur ; Kathryn A. MCVICAR, Auteur ; Ronald L. THIBERT, Auteur ; N. Carolyn SCHANEN, Auteur ; Carmen ESMER, Auteur ; Dustin LAMPORT, Auteur ; Lawrence T. REITER, Auteur Article en page(s) : p.268-279 Langues : Anglais (eng) Mots-clés : autism  15q duplication  imprinting  copy number variation  UBE3A Index. décimale : PER Périodiques Résumé : Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. En ligne : http://dx.doi.org/10.1002/aur.1284 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212 [article] The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature [texte imprimé] / Nora URRACA, Auteur ; Julie CLEARY, Auteur ; Victoria BREWER, Auteur ; Eniko K. PIVNICK, Auteur ; Kathryn A. MCVICAR, Auteur ; Ronald L. THIBERT, Auteur ; N. Carolyn SCHANEN, Auteur ; Carmen ESMER, Auteur ; Dustin LAMPORT, Auteur ; Lawrence T. REITER, Auteur . - p.268-279. Langues : Anglais (eng) in Autism Research > 6-4 (August 2013) . - p.268-279 Mots-clés : autism  15q duplication  imprinting  copy number variation  UBE3A Index. décimale : PER Périodiques Résumé : Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. En ligne : http://dx.doi.org/10.1002/aur.1284 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212

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