Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications / Jerzy WEGIEL

Public ISBD in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Titre : Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : Jerzy WEGIEL, Auteur ; N. Carolyn SCHANEN, Auteur ; Edwin H. Jr COOK, Auteur ; W. Ted BROWN, Auteur ; Izabela KUCHNA, Auteur ; Krzysztof NOWICKI, Auteur ; Jarek WEGIEL, Auteur ; Humi IMAKI, Auteur ; Shuang Yong MA, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur Année de publication : 2013 Importance : p.347-359 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Postmortem studies of brains of individuals with idiopathic autism and 15q11.2–q13 duplications autism (dup(15)) identify a cluster of neuropathological features differentiating these cohorts. They show a need for both reclassification of autism according to etiology, clinical presentation and neuropathology, and a commonality of clinical and neuropathological traits justifying autism diagnosis. The features differentiating these cohorts include: (a) maternal origin in patients with dup(15); (b) autism in 78% of subjects; (c) more severe clinical phenotypes, with intellectual deficit (100%), early-onset of severe or intractable seizures in 78% of subjects, and increased prevalence (up to 67%) of sudden unexplained death; (d) high prevalence of microcephaly, with mean brain weight 300g less than in idiopathic autism; (e) several-fold increase in the number of developmental abnormalities, including defects of migration and dysplastic changes, especially numerous in the hippocampal formation; and (f) significant increase in the intraneuronal amyloid load, reflecting enhanced amyloid-? precursor protein processing with ?-secretase. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications [Texte imprimé et/ou numérique] / Jerzy WEGIEL, Auteur ; N. Carolyn SCHANEN, Auteur ; Edwin H. Jr COOK, Auteur ; W. Ted BROWN, Auteur ; Izabela KUCHNA, Auteur ; Krzysztof NOWICKI, Auteur ; Jarek WEGIEL, Auteur ; Humi IMAKI, Auteur ; Shuang Yong MA, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur . - 2013 . - p.347-359. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Postmortem studies of brains of individuals with idiopathic autism and 15q11.2–q13 duplications autism (dup(15)) identify a cluster of neuropathological features differentiating these cohorts. They show a need for both reclassification of autism according to etiology, clinical presentation and neuropathology, and a commonality of clinical and neuropathological traits justifying autism diagnosis. The features differentiating these cohorts include: (a) maternal origin in patients with dup(15); (b) autism in 78% of subjects; (c) more severe clinical phenotypes, with intellectual deficit (100%), early-onset of severe or intractable seizures in 78% of subjects, and increased prevalence (up to 67%) of sudden unexplained death; (d) high prevalence of microcephaly, with mean brain weight 300g less than in idiopathic autism; (e) several-fold increase in the number of developmental abnormalities, including defects of migration and dysplastic changes, especially numerous in the hippocampal formation; and (f) significant increase in the intraneuronal amyloid load, reflecting enhanced amyloid-? precursor protein processing with ?-secretase. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

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Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder / Kathryn CHADMAN ; Eric LONDON ; Thomas WISNIEWSKI ; Jerzy WEGIEL in Autism Research, 17-7 (July 2024)  

Public ISBD [article]  inAutism Research > 17-7 (July 2024) . - p.1300-1321 Titre : Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Kathryn CHADMAN, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur ; Jerzy WEGIEL, Auteur Article en page(s) : p.1300-1321 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract This review highlights a key role of the serotonergic system in brain development and in distortions of normal brain development in early stages of fetal life resulting in cascades of abnormalities, including defects of neurogenesis, neuronal migration, neuronal growth, differentiation, and arborization, as well as defective neuronal circuit formation in the cortex, subcortical structures, brainstem, and cerebellum of autistic subjects. In autism, defects in regulation of neuronal growth are the most frequent and ubiquitous developmental changes associated with impaired neuron differentiation, smaller size, distorted shape, loss of spatial orientation, and distortion of cortex organization. Common developmental defects of the brain in autism include multiregional focal dysplastic changes contributing to local neuronal circuit distortion, epileptogenic activity, and epilepsy. There is a discrepancy between more than 500 reports demonstrating the contribution of the serotonergic system to autism's behavioral anomalies, highlighted by lack of studies of autistic subjects' brainstem raphe nuclei, the center of brain serotonergic innervation, and of the contribution of the serotonergic system to the diagnostic features of autism spectrum disorder (ASD). Discovery of severe fetal brainstem auditory system neuronal deficits and other anomalies leading to a spectrum of hearing deficits contributing to a cascade of behavioral alterations, including deficits of social and verbal communication in individuals with autism, is another argument to intensify postmortem studies of the type and topography of, and the severity of developmental defects in raphe nuclei and their contribution to abnormal brain development and to the broad spectrum of functional deficits and comorbid conditions in ASD. En ligne : https://dx.doi.org/https://doi.org/10.1002/aur.3123 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533 [article] Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder [Texte imprimé et/ou numérique] / Kathryn CHADMAN, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur ; Jerzy WEGIEL, Auteur . - p.1300-1321. Langues : Anglais (eng) in Autism Research > 17-7 (July 2024) . - p.1300-1321 Index. décimale : PER Périodiques Résumé : Abstract This review highlights a key role of the serotonergic system in brain development and in distortions of normal brain development in early stages of fetal life resulting in cascades of abnormalities, including defects of neurogenesis, neuronal migration, neuronal growth, differentiation, and arborization, as well as defective neuronal circuit formation in the cortex, subcortical structures, brainstem, and cerebellum of autistic subjects. In autism, defects in regulation of neuronal growth are the most frequent and ubiquitous developmental changes associated with impaired neuron differentiation, smaller size, distorted shape, loss of spatial orientation, and distortion of cortex organization. Common developmental defects of the brain in autism include multiregional focal dysplastic changes contributing to local neuronal circuit distortion, epileptogenic activity, and epilepsy. There is a discrepancy between more than 500 reports demonstrating the contribution of the serotonergic system to autism's behavioral anomalies, highlighted by lack of studies of autistic subjects' brainstem raphe nuclei, the center of brain serotonergic innervation, and of the contribution of the serotonergic system to the diagnostic features of autism spectrum disorder (ASD). Discovery of severe fetal brainstem auditory system neuronal deficits and other anomalies leading to a spectrum of hearing deficits contributing to a cascade of behavioral alterations, including deficits of social and verbal communication in individuals with autism, is another argument to intensify postmortem studies of the type and topography of, and the severity of developmental defects in raphe nuclei and their contribution to abnormal brain development and to the broad spectrum of functional deficits and comorbid conditions in ASD. En ligne : https://dx.doi.org/https://doi.org/10.1002/aur.3123 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533

Introduction to Neuropathology / Manuel F. CASANOVA

Public ISBD in Imaging the Brain in Autism / Manuel F. CASANOVA Titre : Introduction to Neuropathology Type de document : Texte imprimé et/ou numérique Auteurs : Manuel F. CASANOVA, Auteur ; Paul H. PATTERSON, Auteur ; Eric LONDON, Auteur Année de publication : 2013 Importance : p.1-26 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 in Imaging the Brain in Autism / Manuel F. CASANOVA Introduction to Neuropathology [Texte imprimé et/ou numérique] / Manuel F. CASANOVA, Auteur ; Paul H. PATTERSON, Auteur ; Eric LONDON, Auteur . - 2013 . - p.1-26. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

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The ASD diagnosis has blocked the discovery of valid biological variation in neurodevelopmental social impairment / Lynn WATERHOUSE in Autism Research, 10-7 (July 2017)  

Public ISBD [article]  inAutism Research > 10-7 (July 2017) . - p.1182-1182 Titre : The ASD diagnosis has blocked the discovery of valid biological variation in neurodevelopmental social impairment Type de document : Texte imprimé et/ou numérique Auteurs : Lynn WATERHOUSE, Auteur ; Eric LONDON, Auteur ; Christopher GILLBERG, Auteur Article en page(s) : p.1182-1182 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1832 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309 [article] The ASD diagnosis has blocked the discovery of valid biological variation in neurodevelopmental social impairment [Texte imprimé et/ou numérique] / Lynn WATERHOUSE, Auteur ; Eric LONDON, Auteur ; Christopher GILLBERG, Auteur . - p.1182-1182. Langues : Anglais (eng) in Autism Research > 10-7 (July 2017) . - p.1182-1182 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1832 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309

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