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Evidence of a faster posterior dominant EEG rhythm in children with autism / Michael D. GREGORY in Research in Autism Spectrum Disorders, 6-3 (July-September 2012)
[article]
Titre : Evidence of a faster posterior dominant EEG rhythm in children with autism Type de document : Texte imprimé et/ou numérique Auteurs : Michael D. GREGORY, Auteur ; David E. MANDELBAUM, Auteur Année de publication : 2012 Article en page(s) : p.1000-1003 Langues : Anglais (eng) Mots-clés : Autism EEG PDR Alpha Posterior dominant rhythm Autistic disorder ASD Index. décimale : PER Périodiques Résumé : Multiple electroencephalography (EEG) abnormalities have been associated with autism. In the course of clinical work, we have observed a posterior dominant EEG rhythm at higher frequency in children with autism. To test this observation, 56 EEG tracings of children with autism were compared to the EEGs of age-matched controls. Children with autism showed a posterior dominant EEG rhythm (PDR) of 9.00 Hz versus 8.60 Hz for controls (p = 0.014). This difference was greater at younger ages. Neural correlates of an increased alpha frequency are unclear. This may represent pathology in cortical-thalamic circuits, default mode network, dorsal attention network and/or occipital visual networks. Examination of changes in these circuits in autism may be a worthwhile area for future research. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.01.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153
in Research in Autism Spectrum Disorders > 6-3 (July-September 2012) . - p.1000-1003[article] Evidence of a faster posterior dominant EEG rhythm in children with autism [Texte imprimé et/ou numérique] / Michael D. GREGORY, Auteur ; David E. MANDELBAUM, Auteur . - 2012 . - p.1000-1003.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 6-3 (July-September 2012) . - p.1000-1003
Mots-clés : Autism EEG PDR Alpha Posterior dominant rhythm Autistic disorder ASD Index. décimale : PER Périodiques Résumé : Multiple electroencephalography (EEG) abnormalities have been associated with autism. In the course of clinical work, we have observed a posterior dominant EEG rhythm at higher frequency in children with autism. To test this observation, 56 EEG tracings of children with autism were compared to the EEGs of age-matched controls. Children with autism showed a posterior dominant EEG rhythm (PDR) of 9.00 Hz versus 8.60 Hz for controls (p = 0.014). This difference was greater at younger ages. Neural correlates of an increased alpha frequency are unclear. This may represent pathology in cortical-thalamic circuits, default mode network, dorsal attention network and/or occipital visual networks. Examination of changes in these circuits in autism may be a worthwhile area for future research. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.01.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression / A. JIMENEZ-GOMEZ in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression Type de document : Texte imprimé et/ou numérique Auteurs : A. JIMENEZ-GOMEZ, Auteur ; S. NIU, Auteur ; F. ANDUJAR-PEREZ, Auteur ; E. A. MCQUADE, Auteur ; A. BALASA, Auteur ; D. HUSS, Auteur ; R. COORG, Auteur ; M. QUACH, Auteur ; S. VINSON, Auteur ; S. RISEN, Auteur ; J. L. HOLDER, Auteur Article en page(s) : 18 p. Langues : Anglais (eng) Mots-clés : Autism Electroencephalogram Neurodevelopment Posterior dominant rhythm Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations and identify potential biomarkers of clinical severity and developmental progression. METHODS: A retrospective clinical data analysis of individuals with SYNGAP1 mutations was conducted. Data included genetic diagnosis, clinical history and examinations, neurophysiologic data, neuroimaging, and serial neurodevelopmental/behavioral assessments. All patients were seen longitudinally within a 6-year period; data analysis was completed on June 30, 2018. Records for all individuals diagnosed with deleterious SYNGAP1 variants (by clinical sequencing or exome sequencing panels) were reviewed. RESULTS: Fifteen individuals (53% male) with seventeen unique SYNGAP1 mutations are reported. Mean age at genetic diagnosis was 65.9 months (28-174 months). All individuals had epilepsy, with atypical absence seizures being the most common semiology (60%). EEG abnormalities included intermittent rhythmic delta activity (60%), slow or absent posterior dominant rhythm (87%), and epileptiform activity (93%), with generalized discharges being more common than focal. Neuroimaging revealed nonspecific abnormalities (53%). Neurodevelopmental evaluation revealed impairment in all individuals, with gross motor function being the least affected. Autism spectrum disorder was diagnosed in 73% and aggression in 60% of cases. Analysis of biomarkers revealed a trend toward a moderate positive correlation between visual-perceptual/fine motor/adaptive skills and language development, with posterior dominant rhythm on electroencephalogram (EEG), independent of age. No other neurophysiology-development associations or correlations were identified. CONCLUSIONS: A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker. En ligne : https://dx.doi.org/10.1186/s11689-019-9276-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 18 p.[article] Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression [Texte imprimé et/ou numérique] / A. JIMENEZ-GOMEZ, Auteur ; S. NIU, Auteur ; F. ANDUJAR-PEREZ, Auteur ; E. A. MCQUADE, Auteur ; A. BALASA, Auteur ; D. HUSS, Auteur ; R. COORG, Auteur ; M. QUACH, Auteur ; S. VINSON, Auteur ; S. RISEN, Auteur ; J. L. HOLDER, Auteur . - 18 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 18 p.
Mots-clés : Autism Electroencephalogram Neurodevelopment Posterior dominant rhythm Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations and identify potential biomarkers of clinical severity and developmental progression. METHODS: A retrospective clinical data analysis of individuals with SYNGAP1 mutations was conducted. Data included genetic diagnosis, clinical history and examinations, neurophysiologic data, neuroimaging, and serial neurodevelopmental/behavioral assessments. All patients were seen longitudinally within a 6-year period; data analysis was completed on June 30, 2018. Records for all individuals diagnosed with deleterious SYNGAP1 variants (by clinical sequencing or exome sequencing panels) were reviewed. RESULTS: Fifteen individuals (53% male) with seventeen unique SYNGAP1 mutations are reported. Mean age at genetic diagnosis was 65.9 months (28-174 months). All individuals had epilepsy, with atypical absence seizures being the most common semiology (60%). EEG abnormalities included intermittent rhythmic delta activity (60%), slow or absent posterior dominant rhythm (87%), and epileptiform activity (93%), with generalized discharges being more common than focal. Neuroimaging revealed nonspecific abnormalities (53%). Neurodevelopmental evaluation revealed impairment in all individuals, with gross motor function being the least affected. Autism spectrum disorder was diagnosed in 73% and aggression in 60% of cases. Analysis of biomarkers revealed a trend toward a moderate positive correlation between visual-perceptual/fine motor/adaptive skills and language development, with posterior dominant rhythm on electroencephalogram (EEG), independent of age. No other neurophysiology-development associations or correlations were identified. CONCLUSIONS: A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker. En ligne : https://dx.doi.org/10.1186/s11689-019-9276-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409