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Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review / Krzysztof SZCZALUBA in Autism - Open Access, 6-3 ([01/05/2016])
[article]
Titre : Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review Type de document : Texte imprimé et/ou numérique Auteurs : Krzysztof SZCZALUBA, Auteur ; Ilona JASZCZUK, Auteur ; Monika LEJMAN, Auteur ; Agata MAKAREWICZ, Auteur ; Renata KONCEWICZ, Auteur ; Urszula DEMKOW, Auteur Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : GABRB3 gene Copy-number variants Single nucleotide variants Angelman syndrome Intellectual disability Autism Index. décimale : PER Périodiques Résumé : We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provide literature review of the clinical picture of GABRB3 mutations. En ligne : https://dx.doi.org/10.4172/2165-7890.1000182 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 6-3 [01/05/2016] . - 4 p.[article] Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review [Texte imprimé et/ou numérique] / Krzysztof SZCZALUBA, Auteur ; Ilona JASZCZUK, Auteur ; Monika LEJMAN, Auteur ; Agata MAKAREWICZ, Auteur ; Renata KONCEWICZ, Auteur ; Urszula DEMKOW, Auteur . - 4 p.
Langues : Anglais (eng)
in Autism - Open Access > 6-3 [01/05/2016] . - 4 p.
Mots-clés : GABRB3 gene Copy-number variants Single nucleotide variants Angelman syndrome Intellectual disability Autism Index. décimale : PER Périodiques Résumé : We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provide literature review of the clinical picture of GABRB3 mutations. En ligne : https://dx.doi.org/10.4172/2165-7890.1000182 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 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