1076 recherche sur le mot-clé 'Neglect-syndrome'

Influence of reading habits on line bisection / Sylvie CHOKRON in Cognitive Brain Research, 1-4 (December 1993)

Public ISBD [article]  inCognitive Brain Research > 1-4 (December 1993) . - p.219-222 Titre : Influence of reading habits on line bisection Type de document : texte imprimé Auteurs : Sylvie CHOKRON, Auteur ; Michel IMBERT, Auteur Année de publication : 1993 Article en page(s) : p.219-222 Langues : Anglais (eng) Mots-clés : Reading-habit Line-bisection Hemispheric-activation Neglect-syndrome Index. décimale : PER Périodiques Résumé : The effect of scanning direction on perception of space is studied with a visuo-motor bisection task, among 120 normal dextrals with opposite reading habits (60 French subjects, 60 Israeli subjects). Bisection is found to depend upon subject's reading habits. Israeli bisected the line to the right of the objective centre, while French subjects placed their subjective middle to the left of the objective one. Results are discussed with respect to hemispheric activation theories, directional hypotheses and the neglect syndrome. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=782 [article] Influence of reading habits on line bisection [texte imprimé] / Sylvie CHOKRON, Auteur ; Michel IMBERT, Auteur . - 1993 . - p.219-222. Langues : Anglais (eng) in Cognitive Brain Research > 1-4 (December 1993) . - p.219-222 Mots-clés : Reading-habit Line-bisection Hemispheric-activation Neglect-syndrome Index. décimale : PER Périodiques Résumé : The effect of scanning direction on perception of space is studied with a visuo-motor bisection task, among 120 normal dextrals with opposite reading habits (60 French subjects, 60 Israeli subjects). Bisection is found to depend upon subject's reading habits. Israeli bisected the line to the right of the objective centre, while French subjects placed their subjective middle to the left of the objective one. Results are discussed with respect to hemispheric activation theories, directional hypotheses and the neglect syndrome. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=782

(1)H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome / Pooja Kri GUPTA in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 31p. Titre : (1)H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome Type de document : texte imprimé Auteurs : Pooja Kri GUPTA, Auteur ; Sharon BARAK, Auteur ; Yonatan FEUERMANN, Auteur ; Gil GOOBES, Auteur ; Hanoch KAPHZAN, Auteur Article en page(s) : 31p. Langues : Anglais (eng) Mots-clés : Animals  Angelman Syndrome/metabolism/genetics  Metabolomics  Disease Models, Animal  Brain/metabolism/diagnostic imaging  Mice  Proton Magnetic Resonance Spectroscopy  Metabolome  Ubiquitin-Protein Ligases/metabolism/genetics  Female  Acetate  Angelman syndrome  Developmental disorders  Glycolysis  Lactate  Metabolite  Mitochondria  Pyruvate metabolism  Reactive oxygen species  Succinate Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental genetic disorder caused by the loss of function of the ubiquitin ligase E3A (UBE3A) gene, affecting approximately 1:15,000 live births. We have recently shown that mitochondrial function in AS is altered during mid to late embryonic brain development leading to increased oxidative stress and enhanced apoptosis of neural precursor cells. However, the overall alterations of metabolic processes are still unknown. Hence, as a follow-up, we aim to investigate the metabolic profiles of wild-type (WT) and AS littermates and to identify which metabolic processes are aberrant in the brain of AS model mice during embryonic development. METHODS: We collected brain tissue samples from mice embryos at E16.5 and performed metabolomic analyses using proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. Multivariate and Univariate analyses were performed to determine the significantly altered metabolites in AS mice. Pathways associated with the altered metabolites were identified using metabolite set enrichment analysis. RESULTS: Our analysis showed that overall, the metabolomic fingerprint of AS embryonic brains differed from those of their WT littermates. Moreover, we revealed a significant elevation of distinct metabolites, such as acetate, lactate, and succinate in the AS samples compared to the WT samples. The elevated metabolites were significantly associated with the pyruvate metabolism and glycolytic pathways. LIMITATIONS: Only 14 metabolites were successfully identified and investigated in the present study. The effect of unidentified metabolites and their unresolved peaks was not determined. Additionally, we conducted the metabolomic study on whole brain tissue samples. Employing high-resolution NMR studies on different brain regions could further expand our knowledge regarding metabolic alterations in the AS brain. Furthermore, increasing the sample size could reveal the involvement of more significantly altered metabolites in the pathophysiology of the AS brain. CONCLUSIONS: Ube3a loss of function alters bioenergy-related metabolism in the AS brain during embryonic development. Furthermore, these neurochemical changes could be linked to the mitochondrial reactive oxygen species and oxidative stress that occurs during the AS embryonic development. En ligne : https://dx.doi.org/10.1186/s13229-024-00608-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] (1)H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome [texte imprimé] / Pooja Kri GUPTA, Auteur ; Sharon BARAK, Auteur ; Yonatan FEUERMANN, Auteur ; Gil GOOBES, Auteur ; Hanoch KAPHZAN, Auteur . - 31p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 31p. Mots-clés : Animals  Angelman Syndrome/metabolism/genetics  Metabolomics  Disease Models, Animal  Brain/metabolism/diagnostic imaging  Mice  Proton Magnetic Resonance Spectroscopy  Metabolome  Ubiquitin-Protein Ligases/metabolism/genetics  Female  Acetate  Angelman syndrome  Developmental disorders  Glycolysis  Lactate  Metabolite  Mitochondria  Pyruvate metabolism  Reactive oxygen species  Succinate Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental genetic disorder caused by the loss of function of the ubiquitin ligase E3A (UBE3A) gene, affecting approximately 1:15,000 live births. We have recently shown that mitochondrial function in AS is altered during mid to late embryonic brain development leading to increased oxidative stress and enhanced apoptosis of neural precursor cells. However, the overall alterations of metabolic processes are still unknown. Hence, as a follow-up, we aim to investigate the metabolic profiles of wild-type (WT) and AS littermates and to identify which metabolic processes are aberrant in the brain of AS model mice during embryonic development. METHODS: We collected brain tissue samples from mice embryos at E16.5 and performed metabolomic analyses using proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. Multivariate and Univariate analyses were performed to determine the significantly altered metabolites in AS mice. Pathways associated with the altered metabolites were identified using metabolite set enrichment analysis. RESULTS: Our analysis showed that overall, the metabolomic fingerprint of AS embryonic brains differed from those of their WT littermates. Moreover, we revealed a significant elevation of distinct metabolites, such as acetate, lactate, and succinate in the AS samples compared to the WT samples. The elevated metabolites were significantly associated with the pyruvate metabolism and glycolytic pathways. LIMITATIONS: Only 14 metabolites were successfully identified and investigated in the present study. The effect of unidentified metabolites and their unresolved peaks was not determined. Additionally, we conducted the metabolomic study on whole brain tissue samples. Employing high-resolution NMR studies on different brain regions could further expand our knowledge regarding metabolic alterations in the AS brain. Furthermore, increasing the sample size could reveal the involvement of more significantly altered metabolites in the pathophysiology of the AS brain. CONCLUSIONS: Ube3a loss of function alters bioenergy-related metabolism in the AS brain during embryonic development. Furthermore, these neurochemical changes could be linked to the mitochondrial reactive oxygen species and oxidative stress that occurs during the AS embryonic development. En ligne : https://dx.doi.org/10.1186/s13229-024-00608-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 27p. Titre : 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : texte imprimé Auteurs : Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [texte imprimé] / Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 27p. Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

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

Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome / Nycole A. COPPING in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 9p. Titre : Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome Type de document : texte imprimé Auteurs : Nycole A. COPPING, Auteur ; Jill L. SILVERMAN, Auteur Article en page(s) : 9p. Langues : Anglais (eng) Mots-clés : Angelman Syndrome  Behavior  Genetics  Mouse models  Seizures  Sleep  Spindles  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-specific loss of expression of UBE3A (ubiquitin-protein ligase E6-AP), an imprinted gene. Seizure and sleep disorders are highly prevalent (> 80%) in the AS population. The present experiments were designed to identify translational, neurophysiological outcome measures in a model of AS. METHODS: We used the exon-2 deletion mouse (Ube3a-del) on a C57BL/6J background to assess seizure, sleep and electrophysiological phenotypes. Seizure susceptibility has been reported in Ube3a-del mice with a variety of seizure induction methods. Here, we provoked seizures by a single high-dose injection of 80 mg/kg pentylenetetrazole. Novel experiments included the utilization of wireless telemetry devices to acquire global electroencephalogram (EEG) and neurophysiological data on electrographic seizures, power spectra, light-dark cycles, sleep stages and sleep spindles in Ube3a-del and WT mice. RESULTS: Ube3a-del mice exhibited reduced seizure threshold compared to WT. EEG illustrated that Ube3a-del mice had increased epileptiform spiking activity and delta power, which corroborates findings from other laboratories and recapitulates clinical reports in AS. This is the first report to use a cortical surface-based recording by a wireless telemetry device over tethered/fixed head-mount depth recordings. Less time in both paradoxical and slow-wave sleep, longer latencies to paradoxical sleep stages and total less sleep time in Ube3a-del mice were observed compared to WT. For the first time, we detected fewer sleep spindles in the AS mouse model. LIMITATIONS: This study was limited to the exon 2 deletion mouse model, and future work will investigate the rat model of AS, containing a complete Ube3a deletion and pair EEG with behavior. CONCLUSIONS: Our data enhance rigor and translatability as our study provides important corroboration of previous reports on epileptiform and elevated delta power. For the first time we report neurophysiological phenotypes collected via translational methodology. Furthermore, this is the first report of reduced sleep spindles, a critical marker of memory consolidation during sleep, in an AS model. Our results are useful outcomes for therapeutic testing. En ligne : http://dx.doi.org/10.1186/s13229-021-00416-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 [article] Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome [texte imprimé] / Nycole A. COPPING, Auteur ; Jill L. SILVERMAN, Auteur . - 9p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 9p. Mots-clés : Angelman Syndrome  Behavior  Genetics  Mouse models  Seizures  Sleep  Spindles  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-specific loss of expression of UBE3A (ubiquitin-protein ligase E6-AP), an imprinted gene. Seizure and sleep disorders are highly prevalent (> 80%) in the AS population. The present experiments were designed to identify translational, neurophysiological outcome measures in a model of AS. METHODS: We used the exon-2 deletion mouse (Ube3a-del) on a C57BL/6J background to assess seizure, sleep and electrophysiological phenotypes. Seizure susceptibility has been reported in Ube3a-del mice with a variety of seizure induction methods. Here, we provoked seizures by a single high-dose injection of 80 mg/kg pentylenetetrazole. Novel experiments included the utilization of wireless telemetry devices to acquire global electroencephalogram (EEG) and neurophysiological data on electrographic seizures, power spectra, light-dark cycles, sleep stages and sleep spindles in Ube3a-del and WT mice. RESULTS: Ube3a-del mice exhibited reduced seizure threshold compared to WT. EEG illustrated that Ube3a-del mice had increased epileptiform spiking activity and delta power, which corroborates findings from other laboratories and recapitulates clinical reports in AS. This is the first report to use a cortical surface-based recording by a wireless telemetry device over tethered/fixed head-mount depth recordings. Less time in both paradoxical and slow-wave sleep, longer latencies to paradoxical sleep stages and total less sleep time in Ube3a-del mice were observed compared to WT. For the first time, we detected fewer sleep spindles in the AS mouse model. LIMITATIONS: This study was limited to the exon 2 deletion mouse model, and future work will investigate the rat model of AS, containing a complete Ube3a deletion and pair EEG with behavior. CONCLUSIONS: Our data enhance rigor and translatability as our study provides important corroboration of previous reports on epileptiform and elevated delta power. For the first time we report neurophysiological phenotypes collected via translational methodology. Furthermore, this is the first report of reduced sleep spindles, a critical marker of memory consolidation during sleep, in an AS model. Our results are useful outcomes for therapeutic testing. En ligne : http://dx.doi.org/10.1186/s13229-021-00416-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442

Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome / Vidya SARAVANAPANDIAN in Molecular Autism, 12 (2021)  

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Abstract Reasoning and Friendship in High Functioning Preadolescents with Autism Spectrum Disorders / Marjorie SOLOMON in Journal of Autism and Developmental Disorders, 41-1 (January 2011)  

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Acalculie / Laurent COHEN

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Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety / Tori L. SCHAEFER in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Acoustic properties of early vocalizations in infants with fragile X syndrome / Lisa R. HAMRICK in Autism Research, 12-11 (November 2019)  

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