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Détail de l'auteur
Auteur Orrin DEVINSKY |
Documents disponibles écrits par cet auteur (2)
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Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy / Heidi S. LUMISH in Journal of Autism and Developmental Disorders, 45-11 (November 2015)
[article]
Titre : Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy Type de document : Texte imprimé et/ou numérique Auteurs : Heidi S. LUMISH, Auteur ; Julia WYNN, Auteur ; Orrin DEVINSKY, Auteur ; Wendy K. CHUNG, Auteur Article en page(s) : p.3764-3770 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Autism SETD2 Intellectual disability Whole exome sequencing Index. décimale : PER Périodiques Résumé : Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2. En ligne : http://dx.doi.org/10.1007/s10803-015-2484-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770[article] Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy [Texte imprimé et/ou numérique] / Heidi S. LUMISH, Auteur ; Julia WYNN, Auteur ; Orrin DEVINSKY, Auteur ; Wendy K. CHUNG, Auteur . - p.3764-3770.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770
Mots-clés : Autism spectrum disorder Autism SETD2 Intellectual disability Whole exome sequencing Index. décimale : PER Périodiques Résumé : Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2. En ligne : http://dx.doi.org/10.1007/s10803-015-2484-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females / Karen BLACKMON in Autism Research, 9-2 (February 2016)
[article]
Titre : Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females Type de document : Texte imprimé et/ou numérique Auteurs : Karen BLACKMON, Auteur ; Judith BLUVSTEIN, Auteur ; William S. MACALLISTER, Auteur ; Jennifer AVALLONE, Auteur ; Jade MISAJON, Auteur ; Julie HEDLUND, Auteur ; Rina GOLDBERG, Auteur ; Aviva BOJKO, Auteur ; Nirmala MITRA, Auteur ; Radha GIRIDHARAN, Auteur ; Richard SULTAN, Auteur ; Seth KELLER, Auteur ; Orrin DEVINSKY, Auteur Article en page(s) : p.311-320 Langues : Anglais (eng) Mots-clés : autism spectrum disorder epilepsy developmental disorders sex differences idiopathic autism complex autism copy-number variants female protective model Index. décimale : PER Périodiques Résumé : The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. En ligne : http://dx.doi.org/10.1002/aur.1514 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Autism Research > 9-2 (February 2016) . - p.311-320[article] Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females [Texte imprimé et/ou numérique] / Karen BLACKMON, Auteur ; Judith BLUVSTEIN, Auteur ; William S. MACALLISTER, Auteur ; Jennifer AVALLONE, Auteur ; Jade MISAJON, Auteur ; Julie HEDLUND, Auteur ; Rina GOLDBERG, Auteur ; Aviva BOJKO, Auteur ; Nirmala MITRA, Auteur ; Radha GIRIDHARAN, Auteur ; Richard SULTAN, Auteur ; Seth KELLER, Auteur ; Orrin DEVINSKY, Auteur . - p.311-320.
Langues : Anglais (eng)
in Autism Research > 9-2 (February 2016) . - p.311-320
Mots-clés : autism spectrum disorder epilepsy developmental disorders sex differences idiopathic autism complex autism copy-number variants female protective model Index. décimale : PER Périodiques Résumé : The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. En ligne : http://dx.doi.org/10.1002/aur.1514 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282