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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures / B. ROYER-BERTRAND in Molecular Autism, 12 (2021)
[article]
Titre : De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures Type de document : Texte imprimé et/ou numérique Auteurs : B. ROYER-BERTRAND, Auteur ; M. JEQUIER GYGAX, Auteur ; K. CISAROVA, Auteur ; J. A. ROSENFELD, Auteur ; J. A. BASSETTI, Auteur ; O. MOLDOVAN, Auteur ; E. O'HEIR, Auteur ; L. C. BURRAGE, Auteur ; J. ALLEN, Auteur ; L. T. EMRICK, Auteur ; E. EASTMAN, Auteur ; C. KUMPS, Auteur ; S. ABBAS, Auteur ; G. VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; E. H. ZACKAI, Auteur ; S. LEBON, Auteur ; B. KEENA, Auteur ; E. J. BHOJ, Auteur ; M. UMAIR, Auteur ; D. LI, Auteur ; K. A. DONALD, Auteur ; A. SUPERTI-FURGA, Auteur Article en page(s) : 69 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Cacna1e Developmental regression Epilepsy Exome sequencing Global developmental delay Intellectual disability Neurodevelopmental disorders Seizures Topiramate receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit ?1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 12 (2021) . - 69 p.[article] De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures [Texte imprimé et/ou numérique] / B. ROYER-BERTRAND, Auteur ; M. JEQUIER GYGAX, Auteur ; K. CISAROVA, Auteur ; J. A. ROSENFELD, Auteur ; J. A. BASSETTI, Auteur ; O. MOLDOVAN, Auteur ; E. O'HEIR, Auteur ; L. C. BURRAGE, Auteur ; J. ALLEN, Auteur ; L. T. EMRICK, Auteur ; E. EASTMAN, Auteur ; C. KUMPS, Auteur ; S. ABBAS, Auteur ; G. VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; E. H. ZACKAI, Auteur ; S. LEBON, Auteur ; B. KEENA, Auteur ; E. J. BHOJ, Auteur ; M. UMAIR, Auteur ; D. LI, Auteur ; K. A. DONALD, Auteur ; A. SUPERTI-FURGA, Auteur . - 69 p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 69 p.
Mots-clés : Autism spectrum disorder Cacna1e Developmental regression Epilepsy Exome sequencing Global developmental delay Intellectual disability Neurodevelopmental disorders Seizures Topiramate receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit ?1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome / N. A. COPPING in Molecular Autism, 12 (2021)
[article]
Titre : Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : N. A. COPPING, Auteur ; J. 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
in Molecular Autism > 12 (2021) . - 9p.[article] Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome [Texte imprimé et/ou numérique] / N. A. COPPING, Auteur ; J. 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
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Epilepsy Associated with ASD and Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Carla MARINI, Auteur Année de publication : 2016 Importance : p.365-373 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Chromosomal rearrangements Epilepsy Genetic Seizures Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The co-occurrence of autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy is well established among clinicians and researchers. Epilepsy is reported to occur in ASD, with a prevalence ranging from 5% to 46%. Among patients with epilepsy, ASD symptoms may occur in 15–35% of children and about a quarter will also have ID. Epilepsy onset shows a bimodal curve with a first peak before 5 years of age and a second during adolescence. Seizures may be either focal or generalized including infantile spasms. Epileptic encephalopathies in addition to intractable seizures often manifest ID and ASD. The frequent association among epileptic, ID, and autistic phenotypes suggests that these disorders may share common predisposing genes. Molecular genetic studies and, more recently, whole-exome sequencing have indeed shown that mutations of specific genes may cause ASD, seizures, and ID, which confirms the common underlying pathophysiological mechanism at least in some patients. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00022-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Epilepsy Associated with ASD and Intellectual Disability [Texte imprimé et/ou numérique] / Carla MARINI, Auteur . - 2016 . - p.365-373.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism spectrum disorder Chromosomal rearrangements Epilepsy Genetic Seizures Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The co-occurrence of autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy is well established among clinicians and researchers. Epilepsy is reported to occur in ASD, with a prevalence ranging from 5% to 46%. Among patients with epilepsy, ASD symptoms may occur in 15–35% of children and about a quarter will also have ID. Epilepsy onset shows a bimodal curve with a first peak before 5 years of age and a second during adolescence. Seizures may be either focal or generalized including infantile spasms. Epileptic encephalopathies in addition to intractable seizures often manifest ID and ASD. The frequent association among epileptic, ID, and autistic phenotypes suggests that these disorders may share common predisposing genes. Molecular genetic studies and, more recently, whole-exome sequencing have indeed shown that mutations of specific genes may cause ASD, seizures, and ID, which confirms the common underlying pathophysiological mechanism at least in some patients. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00022-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Triggers of Aggressive Behaviors in Intellectually Disabled Adults and Their Association with Autism, Medical Conditions, Psychiatric Disorders, Age and Sex: A Large-Scale Study / Ira L. COHEN in Journal of Autism and Developmental Disorders, 50-10 (October 2020)
[article]
Titre : Triggers of Aggressive Behaviors in Intellectually Disabled Adults and Their Association with Autism, Medical Conditions, Psychiatric Disorders, Age and Sex: A Large-Scale Study Type de document : Texte imprimé et/ou numérique Auteurs : Ira L. COHEN, Auteur ; John A. TSIOURIS, Auteur Article en page(s) : p.3748-3762 Langues : Anglais (eng) Mots-clés : Aggression, triggers Autism spectrum disorder Ear infections Gastrointestinal problems Hurdle regression Intellectual disability Psychiatric disorders Seizures Sex Visual impairment Index. décimale : PER Périodiques Résumé : Aggressive behaviors in those with intellectual disability (ID) and autism (ASD) have been linked to a variety of factors including ID level, age, sex, psychiatric disorders, and medical conditions but these factors have not been studied, in large samples, in terms of how they affect the stimuli that trigger aggression. In this survey of 2243 adults, four triggers of aggression associated with frustration, discomfort, change in the physical/social environment, and defensive reactions were analyzed for their relation to ID level, ASD, age, sex, number of psychiatric diagnoses, sleeping problems, seizures, visual impairment, ear infections and gastrointestinal problems. All four triggers were associated with increasing number of psychiatric disorders, with frustration, discomfort, and change intolerance commonly linked to sleeping problems and ASD. Implications for assessment and intervention are discussed. En ligne : http://dx.doi.org/10.1007/s10803-020-04424-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432
in Journal of Autism and Developmental Disorders > 50-10 (October 2020) . - p.3748-3762[article] Triggers of Aggressive Behaviors in Intellectually Disabled Adults and Their Association with Autism, Medical Conditions, Psychiatric Disorders, Age and Sex: A Large-Scale Study [Texte imprimé et/ou numérique] / Ira L. COHEN, Auteur ; John A. TSIOURIS, Auteur . - p.3748-3762.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-10 (October 2020) . - p.3748-3762
Mots-clés : Aggression, triggers Autism spectrum disorder Ear infections Gastrointestinal problems Hurdle regression Intellectual disability Psychiatric disorders Seizures Sex Visual impairment Index. décimale : PER Périodiques Résumé : Aggressive behaviors in those with intellectual disability (ID) and autism (ASD) have been linked to a variety of factors including ID level, age, sex, psychiatric disorders, and medical conditions but these factors have not been studied, in large samples, in terms of how they affect the stimuli that trigger aggression. In this survey of 2243 adults, four triggers of aggression associated with frustration, discomfort, change in the physical/social environment, and defensive reactions were analyzed for their relation to ID level, ASD, age, sex, number of psychiatric diagnoses, sleeping problems, seizures, visual impairment, ear infections and gastrointestinal problems. All four triggers were associated with increasing number of psychiatric disorders, with frustration, discomfort, and change intolerance commonly linked to sleeping problems and ASD. Implications for assessment and intervention are discussed. En ligne : http://dx.doi.org/10.1007/s10803-020-04424-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432 Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome / S. U. PETERS in Journal of Autism and Developmental Disorders, 43-10 (October 2013)
[article]
Titre : Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur Article en page(s) : p.2484-2490 Langues : Anglais (eng) Mots-clés : Regression MECP2 Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215
in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490[article] Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome [Texte imprimé et/ou numérique] / S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur . - p.2484-2490.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490
Mots-clés : Regression MECP2 Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215 Epilepsy in autism spectrum disorder / Arlene MANNION in Research in Autism Spectrum Disorders, 8-4 (April 2014)
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PermalinkUsing the PDD Behavior Inventory as a Level 2 Screener: A Classification and Regression Trees Analysis / Ira L. COHEN in Journal of Autism and Developmental Disorders, 46-9 (September 2016)
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