Epilepsy Associated with ASD and Intellectual Disability / Carla MARINI  

Public ISBD 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 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Epilepsy Associated with ASD and Intellectual Disability [Texte imprimé et/ou numérique] / Carla MARINI, Auteur . - 2016 . - 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

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