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

Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis / Weili YAN in Autism, 26-7 (October 2022)  

Public ISBD [article]  inAutism > 26-7 (October 2022) . - p.1872-1884 Titre : Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis Type de document : Texte imprimé et/ou numérique Auteurs : Weili YAN, Auteur ; Richard J. SIEGERT, Auteur ; Hao ZHOU, Auteur ; Xiaobing ZOU, Auteur ; Lijie WU, Auteur ; Xuerong LUO, Auteur ; Tingyu LI, Auteur ; Yi HUANG, Auteur ; Hongyan GUAN, Auteur ; Xiang CHEN, Auteur ; Meng MAO, Auteur ; Kun XIA, Auteur ; Lan ZHANG, Auteur ; Erzhen LI, Auteur ; Chunpei LI, Auteur ; Xudong ZHANG, Auteur ; Yuanfeng ZHOU, Auteur ; Andy SHIH, Auteur ; Eric FOMBONNE, Auteur ; Yi ZHENG, Auteur ; Jisheng HAN, Auteur ; Zhongsheng SUN, Auteur ; Yong-hui JIANG, Auteur ; Yi WANG, Auteur Article en page(s) : p.1872-1884 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Child  China  Humans  Parents  Psychometrics  Reproducibility of Results  Autism Spectrum Rating Scale  Rasch analysis  autism spectrum disorders  parent version  school-age children Index. décimale : PER Périodiques Résumé : The Autism Spectrum Rating Scale is a behavioural rating scale completed by parents and teachers that is useful for identifying children with an autism spectrum disorder. The development of a modified Autism Spectrum Rating Scale suitable for use in China is important for the identification of children in China with an autism spectrum disorder. In this study, we examined the Modified Chinese Autism Spectrum Rating Scale using a statistical technique known as Rasch analysis. Rasch analysis tests whether the questionnaire meets the standards for modern scientific measurement. We used Rasch analysis to examine data from 2013 children in China including 420 diagnosed with an autism spectrum disorder who had been rated by a parent or grandparent. After removing a small number of items (questions), the Modified Chinese Autism Spectrum Rating Scale met the stringent criteria for Rasch measurement. The availability of a reliable and precise tool for assessing behaviours characteristic of an autism spectrum disorder in Chinese children will improve the identification and diagnosis of autism spectrum disorder in China, thus enabling better provision of support services. En ligne : http://dx.doi.org/10.1177/13623613211004054 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484 [article] Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis [Texte imprimé et/ou numérique] / Weili YAN, Auteur ; Richard J. SIEGERT, Auteur ; Hao ZHOU, Auteur ; Xiaobing ZOU, Auteur ; Lijie WU, Auteur ; Xuerong LUO, Auteur ; Tingyu LI, Auteur ; Yi HUANG, Auteur ; Hongyan GUAN, Auteur ; Xiang CHEN, Auteur ; Meng MAO, Auteur ; Kun XIA, Auteur ; Lan ZHANG, Auteur ; Erzhen LI, Auteur ; Chunpei LI, Auteur ; Xudong ZHANG, Auteur ; Yuanfeng ZHOU, Auteur ; Andy SHIH, Auteur ; Eric FOMBONNE, Auteur ; Yi ZHENG, Auteur ; Jisheng HAN, Auteur ; Zhongsheng SUN, Auteur ; Yong-hui JIANG, Auteur ; Yi WANG, Auteur . - p.1872-1884. Langues : Anglais (eng) in Autism > 26-7 (October 2022) . - p.1872-1884 Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Child  China  Humans  Parents  Psychometrics  Reproducibility of Results  Autism Spectrum Rating Scale  Rasch analysis  autism spectrum disorders  parent version  school-age children Index. décimale : PER Périodiques Résumé : The Autism Spectrum Rating Scale is a behavioural rating scale completed by parents and teachers that is useful for identifying children with an autism spectrum disorder. The development of a modified Autism Spectrum Rating Scale suitable for use in China is important for the identification of children in China with an autism spectrum disorder. In this study, we examined the Modified Chinese Autism Spectrum Rating Scale using a statistical technique known as Rasch analysis. Rasch analysis tests whether the questionnaire meets the standards for modern scientific measurement. We used Rasch analysis to examine data from 2013 children in China including 420 diagnosed with an autism spectrum disorder who had been rated by a parent or grandparent. After removing a small number of items (questions), the Modified Chinese Autism Spectrum Rating Scale met the stringent criteria for Rasch measurement. The availability of a reliable and precise tool for assessing behaviours characteristic of an autism spectrum disorder in Chinese children will improve the identification and diagnosis of autism spectrum disorder in China, thus enabling better provision of support services. En ligne : http://dx.doi.org/10.1177/13623613211004054 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484

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