Common circuit defect of excitatory-inhibitory balance in mouse models of autism / N. GOGOLLA in Journal of Neurodevelopmental Disorders, 1-2 (June 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-2 (June 2009) . - p.172-81 Titre : Common circuit defect of excitatory-inhibitory balance in mouse models of autism Type de document : Texte imprimé et/ou numérique Auteurs : N. GOGOLLA, Auteur ; J. J. LEBLANC, Auteur ; K. B. QUAST, Auteur ; T. C. SUDHOF, Auteur ; M. FAGIOLINI, Auteur ; T. K. HENSCH, Auteur Article en page(s) : p.172-81 Langues : Anglais (eng) Mots-clés : Gaba  Neuroligin  Parvalbumin  Vpa Index. décimale : PER Périodiques Résumé : UNLABELLED: One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of development. We examined whether Parvalbumin (PV)-positive inhibitory neurons, which normally drive experience-dependent circuit refinement (Hensch Nat Rev Neurosci 6:877-888, 1), are disrupted across heterogeneous ASD mouse models. We performed a meta-analysis of PV expression in previously published ASD mouse models and analyzed two additional models, reflecting an embryonic chemical insult (prenatal valproate, VPA) or single-gene mutation identified in human patients (Neuroligin-3, NL-3 R451C). PV-cells were reduced in the neocortex across multiple ASD mouse models. In striking contrast to controls, both VPA and NL-3 mouse models exhibited an asymmetric PV-cell reduction across hemispheres in parietal and occipital cortices (but not the underlying area CA1). ASD mouse models may share a PV-circuit disruption, providing new insight into circuit development and potential prevention by treatment of autism. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9023-x) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9023-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 [article] Common circuit defect of excitatory-inhibitory balance in mouse models of autism [Texte imprimé et/ou numérique] / N. GOGOLLA, Auteur ; J. J. LEBLANC, Auteur ; K. B. QUAST, Auteur ; T. C. SUDHOF, Auteur ; M. FAGIOLINI, Auteur ; T. K. HENSCH, Auteur . - p.172-81. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-2 (June 2009) . - p.172-81 Mots-clés : Gaba  Neuroligin  Parvalbumin  Vpa Index. décimale : PER Périodiques Résumé : UNLABELLED: One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of development. We examined whether Parvalbumin (PV)-positive inhibitory neurons, which normally drive experience-dependent circuit refinement (Hensch Nat Rev Neurosci 6:877-888, 1), are disrupted across heterogeneous ASD mouse models. We performed a meta-analysis of PV expression in previously published ASD mouse models and analyzed two additional models, reflecting an embryonic chemical insult (prenatal valproate, VPA) or single-gene mutation identified in human patients (Neuroligin-3, NL-3 R451C). PV-cells were reduced in the neocortex across multiple ASD mouse models. In striking contrast to controls, both VPA and NL-3 mouse models exhibited an asymmetric PV-cell reduction across hemispheres in parietal and occipital cortices (but not the underlying area CA1). ASD mouse models may share a PV-circuit disruption, providing new insight into circuit development and potential prevention by treatment of autism. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9023-x) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9023-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341

Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude / J. J. LEBLANC in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 30p. Titre : Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude Type de document : Texte imprimé et/ou numérique Auteurs : J. J. LEBLANC, Auteur ; C. A. NELSON, Auteur Article en page(s) : 30p. Langues : Anglais (eng) Mots-clés : Adolescent  Child  Child, Preschool  Chromosomes, Human, Pair 16/genetics  DNA Copy Number Variations  Developmental Disabilities/diagnosis/physiopathology  Electroencephalography  Evoked Potentials, Visual/physiology  Female  Gene Deletion  Gene Duplication  Humans  Male  Visual Cortex/diagnostic imaging  16p11.2 copy number variation  Visual cortex  Visual evoked potential Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. RESULTS: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. CONCLUSIONS: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder. En ligne : http://dx.doi.org/10.1186/s13229-016-0095-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 [article] Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude [Texte imprimé et/ou numérique] / J. J. LEBLANC, Auteur ; C. A. NELSON, Auteur . - 30p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 30p. Mots-clés : Adolescent  Child  Child, Preschool  Chromosomes, Human, Pair 16/genetics  DNA Copy Number Variations  Developmental Disabilities/diagnosis/physiopathology  Electroencephalography  Evoked Potentials, Visual/physiology  Female  Gene Deletion  Gene Duplication  Humans  Male  Visual Cortex/diagnostic imaging  16p11.2 copy number variation  Visual cortex  Visual evoked potential Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. RESULTS: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. CONCLUSIONS: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder. En ligne : http://dx.doi.org/10.1186/s13229-016-0095-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328

Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome / K. J. ROCHE in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 15 p. Titre : Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome Type de document : Texte imprimé et/ou numérique Auteurs : K. J. ROCHE, Auteur ; J. J. LEBLANC, Auteur ; A. R. LEVIN, Auteur ; H. M. O'LEARY, Auteur ; L. M. BACZEWSKI, Auteur ; C. A. NELSON, Auteur Article en page(s) : 15 p. Langues : Anglais (eng) Mots-clés : Biomarker  Eeg  Electroencephalography  Electrophysiology  Rett syndrome  Spectral power Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the disorder can lead to cognitive, motor, sensory, and autonomic dysfunction. Understanding the mechanism of developmental regression represents a unique challenge when viewed through a neuroscience lens. Are circuits that were previously established erased, and are new ones built to supplant old ones? One way to examine circuit-level changes is with the use of electroencephalography (EEG). Previous studies of the EEG in individuals with Rett syndrome have focused on morphological characteristics, but few have explored spectral power, including power as an index of brain function or disease severity. This study sought to determine if EEG power differs in girls with Rett syndrome and typically developing girls and among girls with Rett syndrome based on various clinical characteristics in order to better understand neural connectivity and cortical organization in individuals with this disorder. METHODS: Resting state EEG data were acquired from girls with Rett syndrome (n = 57) and typically developing children without Rett syndrome (n = 37). Clinical data were also collected for girls with Rett syndrome. EEG power across several brain regions in numerous frequency bands was then compared between girls with Rett syndrome and typically developing children and power in girls with Rett syndrome was compared based on these clinical measures. 1/f slope was also compared between groups. RESULTS: Girls with Rett syndrome demonstrate significantly lower power in the middle frequency bands across multiple brain regions. Additionally, girls with Rett syndrome that are postregression demonstrate significantly higher power in the lower frequency delta and theta bands and a significantly more negative slope of the power spectrum. Increased power in these bands, as well as a more negative 1/f slope, trended with lower cognitive assessment scores. CONCLUSIONS: Increased power in lower frequency bands is consistent with previous studies demonstrating a "slowing" of the background EEG in Rett syndrome. This increase, particularly in the delta band, could represent abnormal cortical inhibition due to dysfunctional GABAergic signaling and could potentially be used as a marker of severity due to associations with more severe Rett syndrome phenotypes. En ligne : https://dx.doi.org/10.1186/s11689-019-9275-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome [Texte imprimé et/ou numérique] / K. J. ROCHE, Auteur ; J. J. LEBLANC, Auteur ; A. R. LEVIN, Auteur ; H. M. O'LEARY, Auteur ; L. M. BACZEWSKI, Auteur ; C. A. NELSON, Auteur . - 15 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 15 p. Mots-clés : Biomarker  Eeg  Electroencephalography  Electrophysiology  Rett syndrome  Spectral power Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the disorder can lead to cognitive, motor, sensory, and autonomic dysfunction. Understanding the mechanism of developmental regression represents a unique challenge when viewed through a neuroscience lens. Are circuits that were previously established erased, and are new ones built to supplant old ones? One way to examine circuit-level changes is with the use of electroencephalography (EEG). Previous studies of the EEG in individuals with Rett syndrome have focused on morphological characteristics, but few have explored spectral power, including power as an index of brain function or disease severity. This study sought to determine if EEG power differs in girls with Rett syndrome and typically developing girls and among girls with Rett syndrome based on various clinical characteristics in order to better understand neural connectivity and cortical organization in individuals with this disorder. METHODS: Resting state EEG data were acquired from girls with Rett syndrome (n = 57) and typically developing children without Rett syndrome (n = 37). Clinical data were also collected for girls with Rett syndrome. EEG power across several brain regions in numerous frequency bands was then compared between girls with Rett syndrome and typically developing children and power in girls with Rett syndrome was compared based on these clinical measures. 1/f slope was also compared between groups. RESULTS: Girls with Rett syndrome demonstrate significantly lower power in the middle frequency bands across multiple brain regions. Additionally, girls with Rett syndrome that are postregression demonstrate significantly higher power in the lower frequency delta and theta bands and a significantly more negative slope of the power spectrum. Increased power in these bands, as well as a more negative 1/f slope, trended with lower cognitive assessment scores. CONCLUSIONS: Increased power in lower frequency bands is consistent with previous studies demonstrating a "slowing" of the background EEG in Rett syndrome. This increase, particularly in the delta band, could represent abnormal cortical inhibition due to dysfunctional GABAergic signaling and could potentially be used as a marker of severity due to associations with more severe Rett syndrome phenotypes. En ligne : https://dx.doi.org/10.1186/s11689-019-9275-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

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