Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders / Kaiqin LI in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313 Titre : Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders Type de document : texte imprimé Auteurs : Kaiqin LI, Auteur ; Zhenghuan FANG, Auteur ; Guifang ZHAO, Auteur ; Bingshan LI, Auteur ; Chao CHEN, Auteur ; Lu XIA, Auteur ; Lifang WANG, Auteur ; Tengfei LUO, Auteur ; Xiaoming WANG, Auteur ; Ziqi WANG, Auteur ; Yi ZHANG, Auteur ; Yi JIANG, Auteur ; Qian PAN, Auteur ; Zhengmao HU, Auteur ; Hui GUO, Auteur ; Beisha TANG, Auteur ; Chaoyu LIU, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur ; Jun LI, Auteur Année de publication : 2022 Article en page(s) : p.1299-1313 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Genetic Predisposition to Disease  Humans  Intellectual Disability/genetics  Mutation  Phenotype  Schizophrenia  Candidate gene  De novo mutation  Expression pattern  Functional network  Neuropsychiatric disorder Index. décimale : PER Périodiques Résumé : The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance. En ligne : http://dx.doi.org/10.1007/s10803-021-05031-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders [texte imprimé] / Kaiqin LI, Auteur ; Zhenghuan FANG, Auteur ; Guifang ZHAO, Auteur ; Bingshan LI, Auteur ; Chao CHEN, Auteur ; Lu XIA, Auteur ; Lifang WANG, Auteur ; Tengfei LUO, Auteur ; Xiaoming WANG, Auteur ; Ziqi WANG, Auteur ; Yi ZHANG, Auteur ; Yi JIANG, Auteur ; Qian PAN, Auteur ; Zhengmao HU, Auteur ; Hui GUO, Auteur ; Beisha TANG, Auteur ; Chaoyu LIU, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur ; Jun LI, Auteur . - 2022 . - p.1299-1313. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313 Mots-clés : Autism Spectrum Disorder/genetics  Genetic Predisposition to Disease  Humans  Intellectual Disability/genetics  Mutation  Phenotype  Schizophrenia  Candidate gene  De novo mutation  Expression pattern  Functional network  Neuropsychiatric disorder Index. décimale : PER Périodiques Résumé : The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance. En ligne : http://dx.doi.org/10.1007/s10803-021-05031-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder / Lin WANG in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 75 p. Titre : Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder Type de document : texte imprimé Auteurs : Lin WANG, Auteur ; Yi ZHANG, Auteur ; Kuokuo LI, Auteur ; Zheng WANG, Auteur ; Xiaomeng WANG, Auteur ; Bin LI, Auteur ; Guihu ZHAO, Auteur ; Zhenghuan FANG, Auteur ; Zhengbao LING, Auteur ; Tengfei LUO, Auteur ; Lu XIA, Auteur ; Yanping LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Jinchen LI, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur Article en page(s) : 75 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  De novo variant  Expression pattern  Functional network  Recessive inherited variant Index. décimale : PER Périodiques Résumé : BACKGROUND: Both de novo variants and recessive inherited variants were associated with autism spectrum disorder (ASD). This study aimed to use exome data to prioritize recessive inherited genes (RIGs) with biallelically inherited variants in autosomes or X-linked inherited variants in males and investigate the functional relationships between RIGs and genes with de novo variants (DNGs). METHODS: We used a bioinformatics pipeline to analyze whole-exome sequencing data from 1799 ASD quads (containing one proband, one unaffected sibling, and their parents) from the Simons Simplex Collection and prioritize candidate RIGs with rare biallelically inherited variants in autosomes or X-linked inherited variants in males. The relationships between RIGs and DNGs were characterized based on different genetic perspectives, including genetic variants, functional networks, and brain expression patterns. RESULTS: Among the biallelically or hemizygous constrained genes that were expressed in the brain, ASD probands carried significantly more biallelically inherited protein-truncating variants (PTVs) in autosomes (p = 0.038) and X-linked inherited PTVs in males (p = 0.026) than those in unaffected siblings. We prioritized eight autosomal, and 13 X-linked candidate RIGs, including 11 genes already associated with neurodevelopmental disorders. In total, we detected biallelically inherited variants or X-linked inherited variants of these 21 candidate RIGs in 26 (1.4%) of 1799 probands. We then integrated previously reported known or candidate genes in ASD, ultimately obtaining 70 RIGs and 87 DNGs for analysis. We found that RIGs were less likely to carry multiple recessive inherited variants than DNGs were to carry multiple de novo variants. Additionally, RIGs and DNGs were significantly co-expressed and interacted with each other, forming a network enriched in known functional ASD clusters, although RIGs were less likely to be enriched in these functional clusters compared with DNGs. Furthermore, although RIGs and DNGs presented comparable expression patterns in the human brain, RIGs were less likely to be associated with prenatal brain regions, the middle cortical layers, and excitatory neurons than DNGs. LIMITATIONS: The RIGs analyzed in this study require functional validation, and the results should be replicated in more patients with ASD. CONCLUSIONS: ASD RIGs were functionally associated with DNGs; however, they exhibited higher heterogeneity than DNGs. En ligne : http://dx.doi.org/10.1186/s13229-020-00382-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 [article] Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder [texte imprimé] / Lin WANG, Auteur ; Yi ZHANG, Auteur ; Kuokuo LI, Auteur ; Zheng WANG, Auteur ; Xiaomeng WANG, Auteur ; Bin LI, Auteur ; Guihu ZHAO, Auteur ; Zhenghuan FANG, Auteur ; Zhengbao LING, Auteur ; Tengfei LUO, Auteur ; Lu XIA, Auteur ; Yanping LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Jinchen LI, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur . - 75 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 75 p. Mots-clés : Autism spectrum disorder  De novo variant  Expression pattern  Functional network  Recessive inherited variant Index. décimale : PER Périodiques Résumé : BACKGROUND: Both de novo variants and recessive inherited variants were associated with autism spectrum disorder (ASD). This study aimed to use exome data to prioritize recessive inherited genes (RIGs) with biallelically inherited variants in autosomes or X-linked inherited variants in males and investigate the functional relationships between RIGs and genes with de novo variants (DNGs). METHODS: We used a bioinformatics pipeline to analyze whole-exome sequencing data from 1799 ASD quads (containing one proband, one unaffected sibling, and their parents) from the Simons Simplex Collection and prioritize candidate RIGs with rare biallelically inherited variants in autosomes or X-linked inherited variants in males. The relationships between RIGs and DNGs were characterized based on different genetic perspectives, including genetic variants, functional networks, and brain expression patterns. RESULTS: Among the biallelically or hemizygous constrained genes that were expressed in the brain, ASD probands carried significantly more biallelically inherited protein-truncating variants (PTVs) in autosomes (p = 0.038) and X-linked inherited PTVs in males (p = 0.026) than those in unaffected siblings. We prioritized eight autosomal, and 13 X-linked candidate RIGs, including 11 genes already associated with neurodevelopmental disorders. In total, we detected biallelically inherited variants or X-linked inherited variants of these 21 candidate RIGs in 26 (1.4%) of 1799 probands. We then integrated previously reported known or candidate genes in ASD, ultimately obtaining 70 RIGs and 87 DNGs for analysis. We found that RIGs were less likely to carry multiple recessive inherited variants than DNGs were to carry multiple de novo variants. Additionally, RIGs and DNGs were significantly co-expressed and interacted with each other, forming a network enriched in known functional ASD clusters, although RIGs were less likely to be enriched in these functional clusters compared with DNGs. Furthermore, although RIGs and DNGs presented comparable expression patterns in the human brain, RIGs were less likely to be associated with prenatal brain regions, the middle cortical layers, and excitatory neurons than DNGs. LIMITATIONS: The RIGs analyzed in this study require functional validation, and the results should be replicated in more patients with ASD. CONCLUSIONS: ASD RIGs were functionally associated with DNGs; however, they exhibited higher heterogeneity than DNGs. En ligne : http://dx.doi.org/10.1186/s13229-020-00382-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433

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 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] / 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

Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis / Weili YAN in Autism, 25-7 (October 2021)  

Public ISBD [article]  inAutism > 25-7 (October 2021) . - p.1872-1884 Titre : Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis Type de document : texte imprimé Auteurs : Weili YAN, Auteur ; Richard J. SIEGERT, Auteur ; Hao ZHOU, Auteur ; Xiaobing ZOU, Auteur ; Lijie WU, Auteur ; Xuerong LUO, Auteur ; Tingyu LI, Auteur ; Ying HUANG, Auteur ; Hongyan GUAN, Auteur ; Xiang CHEN, Auteur ; Meng MAO, Auteur ; Kun XIA, Auteur ; Liang ZHANG, Auteur ; Erzhen LI, Auteur ; Chunpei LI, Auteur ; Xudong ZHANG, Auteur ; Yin ZHOU, Auteur ; Andy SHIH, Auteur ; Eric FOMBONNE, Auteur ; Yi ZHENG, Auteur ; Jisheng HAN, Auteur ; Zhongsheng SUN, Auteur ; Yong-hui JIANG, Auteur ; Yao WANG, Auteur Année de publication : 2021 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  psychometrics  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=451 [article] Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis [texte imprimé] / Weili YAN, Auteur ; Richard J. SIEGERT, Auteur ; Hao ZHOU, Auteur ; Xiaobing ZOU, Auteur ; Lijie WU, Auteur ; Xuerong LUO, Auteur ; Tingyu LI, Auteur ; Ying HUANG, Auteur ; Hongyan GUAN, Auteur ; Xiang CHEN, Auteur ; Meng MAO, Auteur ; Kun XIA, Auteur ; Liang ZHANG, Auteur ; Erzhen LI, Auteur ; Chunpei LI, Auteur ; Xudong ZHANG, Auteur ; Yin ZHOU, Auteur ; Andy SHIH, Auteur ; Eric FOMBONNE, Auteur ; Yi ZHENG, Auteur ; Jisheng HAN, Auteur ; Zhongsheng SUN, Auteur ; Yong-hui JIANG, Auteur ; Yao WANG, Auteur . - 2021 . - p.1872-1884. Langues : Anglais (eng) in Autism > 25-7 (October 2021) . - 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  psychometrics  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=451

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