Acquisition of Speech Prosody in a Non-native Tone Language by Children With and Without Autism Spectrum Disorder / Si CHEN in Journal of Autism and Developmental Disorders, 56-6 (June 2026)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 56-6 (June 2026) . - p.2258-2272 Titre : Acquisition of Speech Prosody in a Non-native Tone Language by Children With and Without Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Si CHEN, Auteur ; Yixin ZHANG, Auteur ; Meixuan LI, Auteur ; Bin LI, Auteur ; Shuang LU, Auteur ; Angel CHAN, Auteur ; Haoyan GE, Auteur ; Tempo TANG, Auteur ; Zhuoming CHEN, Auteur Article en page(s) : p.2258-2272 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Purpose: Children with autism spectrum disorder (ASD) often show abnormal speech prosody. Tonal languages can pose more difficulties as speakers need to use acoustic cues to make lexical contrasts while encoding the focal function, but the acquisition of speech prosody of non-native languages, especially tonal languages has rarely been investigated. Methods: This study aims to fill in the aforementioned gap by studying prosodic focus-marking in Mandarin by native Cantonese-speaking children with ASD (n = 25), in comparison with their typically developing (TD) peers (n = 20) and native Mandarin-speaking children (n = 20). Natural prosodic marking of different types of focus was elicited by picture-based prompt questions, recorded and analyzed acoustically. Results: The autistic children made use of fewer acoustic cues and produced less evident on-focus expansion in these cues than TD, especially the native-Mandarin speaking peers. They also demonstrated a clear preference to on-focus expansion than to post-focus compression. These children, together with their native Cantonese-speaking peers, also hyper-performed in tone realization, prioritizing lexical prosody over focus marking. Such hyper-performance may further limit their use of prosodic cues in focus marking. However, the difficulties the autistic children faced in the acquisition of speech prosody in a non-native tone language, though found, are not more than those they face in their mother tongue. Conclusion: Multilingual exposure may help the autistic children master the use of some focus marking strategies though they still need interventions to help them to implement their focus-marking knowledge more sufficiently in both native and non-native languages. En ligne : https://doi.org/10.1007/s10803-024-06698-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=588 [article] Acquisition of Speech Prosody in a Non-native Tone Language by Children With and Without Autism Spectrum Disorder [texte imprimé] / Si CHEN, Auteur ; Yixin ZHANG, Auteur ; Meixuan LI, Auteur ; Bin LI, Auteur ; Shuang LU, Auteur ; Angel CHAN, Auteur ; Haoyan GE, Auteur ; Tempo TANG, Auteur ; Zhuoming CHEN, Auteur . - p.2258-2272. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 56-6 (June 2026) . - p.2258-2272 Index. décimale : PER Périodiques Résumé : Purpose: Children with autism spectrum disorder (ASD) often show abnormal speech prosody. Tonal languages can pose more difficulties as speakers need to use acoustic cues to make lexical contrasts while encoding the focal function, but the acquisition of speech prosody of non-native languages, especially tonal languages has rarely been investigated. Methods: This study aims to fill in the aforementioned gap by studying prosodic focus-marking in Mandarin by native Cantonese-speaking children with ASD (n = 25), in comparison with their typically developing (TD) peers (n = 20) and native Mandarin-speaking children (n = 20). Natural prosodic marking of different types of focus was elicited by picture-based prompt questions, recorded and analyzed acoustically. Results: The autistic children made use of fewer acoustic cues and produced less evident on-focus expansion in these cues than TD, especially the native-Mandarin speaking peers. They also demonstrated a clear preference to on-focus expansion than to post-focus compression. These children, together with their native Cantonese-speaking peers, also hyper-performed in tone realization, prioritizing lexical prosody over focus marking. Such hyper-performance may further limit their use of prosodic cues in focus marking. However, the difficulties the autistic children faced in the acquisition of speech prosody in a non-native tone language, though found, are not more than those they face in their mother tongue. Conclusion: Multilingual exposure may help the autistic children master the use of some focus marking strategies though they still need interventions to help them to implement their focus-marking knowledge more sufficiently in both native and non-native languages. En ligne : https://doi.org/10.1007/s10803-024-06698-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=588

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

Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension / Zhengbao LING ; Tengfei LUO ; Qiao ZHOU ; Guihu ZHAO ; Bin LI ; Kun XIA ; Jinchen LI in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.749-764 Titre : Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension Type de document : texte imprimé Auteurs : Zhengbao LING, Auteur ; Tengfei LUO, Auteur ; Qiao ZHOU, Auteur ; Guihu ZHAO, Auteur ; Bin LI, Auteur ; Kun XIA, Auteur ; Jinchen LI, Auteur Article en page(s) : p.749-764 Index. décimale : PER Périodiques Résumé : Genetic factors, particularly, de novo variants (DNV), and an environment factor, exposure to pregnancy-induced hypertension (PIH), were reported to be associated with risk of autism spectrum disorder (ASD); however, how they jointly affect the severity of ASD symptom is unclear. We assessed the severity of core ASD symptoms affected by functional de novo variants or PIH. We selected phenotype data from Simon s Simplex Collection database, used genotypes from previous studies, and created linear regression models. We found that ASD patients carrying DNV with PIH exposure had increased adaptive and cognitive ability, decreased social problems, and enhanced repetitive behaviors; however, there was no difference in patients without DNV between those with or without PIH exposure. In addition, the DNV genes carried by patients exposed to PIH were enriched in ubiquitin-dependent proteolytic processes, highlighting how candidate genes in pathways and environments interact. The results indicate the joint contribution of DNV and PIH to ASD. En ligne : https://doi.org/10.1007/s10803-022-05824-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension [texte imprimé] / Zhengbao LING, Auteur ; Tengfei LUO, Auteur ; Qiao ZHOU, Auteur ; Guihu ZHAO, Auteur ; Bin LI, Auteur ; Kun XIA, Auteur ; Jinchen LI, Auteur . - p.749-764. in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.749-764 Index. décimale : PER Périodiques Résumé : Genetic factors, particularly, de novo variants (DNV), and an environment factor, exposure to pregnancy-induced hypertension (PIH), were reported to be associated with risk of autism spectrum disorder (ASD); however, how they jointly affect the severity of ASD symptom is unclear. We assessed the severity of core ASD symptoms affected by functional de novo variants or PIH. We selected phenotype data from Simon s Simplex Collection database, used genotypes from previous studies, and created linear regression models. We found that ASD patients carrying DNV with PIH exposure had increased adaptive and cognitive ability, decreased social problems, and enhanced repetitive behaviors; however, there was no difference in patients without DNV between those with or without PIH exposure. In addition, the DNV genes carried by patients exposed to PIH were enriched in ubiquitin-dependent proteolytic processes, highlighting how candidate genes in pathways and environments interact. The results indicate the joint contribution of DNV and PIH to ASD. En ligne : https://doi.org/10.1007/s10803-022-05824-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

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