Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients / Yanyan QIAN in Journal of Autism and Developmental Disorders, 52-11 (November 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.5033-5041 Titre : Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients Type de document : Texte imprimé et/ou numérique Auteurs : Yanyan QIAN, Auteur ; Yuanfeng ZHOU, Auteur ; Bingbing WU, Auteur ; Huiyao CHEN, Auteur ; Suzhen XU, Auteur ; Yao WANG, Auteur ; Ping ZHANG, Auteur ; Gang LI, Auteur ; Qiong XU, Auteur ; Wenhao ZHOU, Auteur ; Xiu XU, Auteur ; Huijun WANG, Auteur Article en page(s) : p.5033-5041 Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple  Autism Spectrum Disorder  Autistic Disorder/genetics  China  Chromatin  DNA Helicases/genetics  Face/abnormalities  Hand Deformities, Congenital  Humans  Intellectual Disability/genetics  Micrognathism  Neck/abnormalities  Nuclear Proteins/genetics  Transcription Factors/genetics  Autism spectrum disorder  Coffin-Siris syndrome  Neurodevelopmental-related disorders  Phenotype  Smarca4 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-021-05365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 [article] Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients [Texte imprimé et/ou numérique] / Yanyan QIAN, Auteur ; Yuanfeng ZHOU, Auteur ; Bingbing WU, Auteur ; Huiyao CHEN, Auteur ; Suzhen XU, Auteur ; Yao WANG, Auteur ; Ping ZHANG, Auteur ; Gang LI, Auteur ; Qiong XU, Auteur ; Wenhao ZHOU, Auteur ; Xiu XU, Auteur ; Huijun WANG, Auteur . - p.5033-5041. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.5033-5041 Mots-clés : Abnormalities, Multiple  Autism Spectrum Disorder  Autistic Disorder/genetics  China  Chromatin  DNA Helicases/genetics  Face/abnormalities  Hand Deformities, Congenital  Humans  Intellectual Disability/genetics  Micrognathism  Neck/abnormalities  Nuclear Proteins/genetics  Transcription Factors/genetics  Autism spectrum disorder  Coffin-Siris syndrome  Neurodevelopmental-related disorders  Phenotype  Smarca4 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-021-05365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489

Volumetric Analysis of Amygdala and Hippocampal Subfields for Infants with Autism / Guannan Li ; Meng-Hsiang Chen ; Gang LI ; Di Wu ; Chunfeng Lian ; Quansen Sun ; R. Jarrett Rushmore ; Li WANG in Journal of Autism and Developmental Disorders, 53-6 (June 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-6 (June 2023) . - p.2475-2489 Titre : Volumetric Analysis of Amygdala and Hippocampal Subfields for Infants with Autism : Journal of Autism and Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Guannan Li, Auteur ; Meng-Hsiang Chen, Auteur ; Gang LI, Auteur ; Di Wu, Auteur ; Chunfeng Lian, Auteur ; Quansen Sun, Auteur ; R. Jarrett Rushmore, Auteur ; Li WANG, Auteur Article en page(s) : p.2475-2489 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Previous studies have demonstrated abnormal brain overgrowth in children with autism spectrum disorder (ASD), but the development of specific brain regions, such as the amygdala and hippocampal subfields in infants, is incompletely documented. To address this issue, we performed the first MRI study of amygdala and hippocampal subfields in infants from 6 to 24 months of age using a longitudinal dataset. A novel deep learning approach, Dilated-Dense U-Net, was proposed to address the challenge of low tissue contrast and small structural size of these subfields. We performed a volume-based analysis on the segmentation results. Our results show that infants who were later diagnosed with ASD had larger left and right volumes of amygdala and hippocampal subfields than typically developing controls. En ligne : https://doi.org/10.1007/s10803-022-05535-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=506 [article] Volumetric Analysis of Amygdala and Hippocampal Subfields for Infants with Autism : Journal of Autism and Developmental Disorders [Texte imprimé et/ou numérique] / Guannan Li, Auteur ; Meng-Hsiang Chen, Auteur ; Gang LI, Auteur ; Di Wu, Auteur ; Chunfeng Lian, Auteur ; Quansen Sun, Auteur ; R. Jarrett Rushmore, Auteur ; Li WANG, Auteur . - p.2475-2489. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-6 (June 2023) . - p.2475-2489 Index. décimale : PER Périodiques Résumé : Previous studies have demonstrated abnormal brain overgrowth in children with autism spectrum disorder (ASD), but the development of specific brain regions, such as the amygdala and hippocampal subfields in infants, is incompletely documented. To address this issue, we performed the first MRI study of amygdala and hippocampal subfields in infants from 6 to 24 months of age using a longitudinal dataset. A novel deep learning approach, Dilated-Dense U-Net, was proposed to address the challenge of low tissue contrast and small structural size of these subfields. We performed a volume-based analysis on the segmentation results. Our results show that infants who were later diagnosed with ASD had larger left and right volumes of amygdala and hippocampal subfields than typically developing controls. En ligne : https://doi.org/10.1007/s10803-022-05535-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=506

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