Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium / T. ZHANG in Autism Research, 12-4 (April 2019)  

Public ISBD [article]  inAutism Research > 12-4 (April 2019) . - p.553-561 Titre : Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium Type de document : Texte imprimé et/ou numérique Auteurs : T. ZHANG, Auteur ; J. ZHANG, Auteur ; Z. WANG, Auteur ; M. JIA, Auteur ; T. LU, Auteur ; H. WANG, Auteur ; W. YUE, Auteur ; D. ZHANG, Auteur ; J. LI, Auteur ; L. WANG, Auteur Article en page(s) : p.553-561 Langues : Anglais (eng) Mots-clés : Cntnap2  Pgc  autism  meta-analysis  polymorphism Index. décimale : PER Périodiques Résumé : Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In present family-based association study, no single-nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested that CNTNAP2 polymorphisms might not be associated with autism. En ligne : https://dx.doi.org/10.1002/aur.2078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388 [article] Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium [Texte imprimé et/ou numérique] / T. ZHANG, Auteur ; J. ZHANG, Auteur ; Z. WANG, Auteur ; M. JIA, Auteur ; T. LU, Auteur ; H. WANG, Auteur ; W. YUE, Auteur ; D. ZHANG, Auteur ; J. LI, Auteur ; L. WANG, Auteur . - p.553-561. Langues : Anglais (eng) in Autism Research > 12-4 (April 2019) . - p.553-561 Mots-clés : Cntnap2  Pgc  autism  meta-analysis  polymorphism Index. décimale : PER Périodiques Résumé : Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In present family-based association study, no single-nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested that CNTNAP2 polymorphisms might not be associated with autism. En ligne : https://dx.doi.org/10.1002/aur.2078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388

Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders / S. E. GOLDMAN in Journal of Autism and Developmental Disorders, 47-6 (June 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1682-1695 Titre : Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : S. E. GOLDMAN, Auteur ; M. L. ALDER, Auteur ; Helen J. BURGESS, Auteur ; B. A. CORBETT, Auteur ; R. HUNDLEY, Auteur ; D. WOFFORD, Auteur ; D. B. FAWKES, Auteur ; L. WANG, Auteur ; M. L. LAUDENSLAGER, Auteur ; B. A. MALOW, Auteur Article en page(s) : p.1682-1695 Langues : Anglais (eng) Mots-clés : Melatonin  Cortisol  Actigraphy  Adolescent  Sleep  Wake  Scale  Hygiene Index. décimale : PER Périodiques Résumé : We studied 28 adolescents/young adults with autism spectrum disorders (ASD) and 13 age/sex matched individuals of typical development (TD). Structured sleep histories, validated questionnaires, actigraphy (4 weeks), and salivary cortisol and melatonin (4 days each) were collected. Compared to those with TD, adolescents/young adults with ASD had longer sleep latencies and more difficulty going to bed and falling asleep. Morning cortisol, evening cortisol, and the morning-evening difference in cortisol did not differ by diagnosis (ASD vs. TD). Dim light melatonin onsets (DLMOs) averaged across participants were not different for the ASD and TD participants. Average participant scores indicated aspects of poor sleep hygiene in both groups. Insomnia in ASD is multifactorial and not solely related to physiological factors. En ligne : http://dx.doi.org/10.1007/s10803-017-3089-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308 [article] Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / S. E. GOLDMAN, Auteur ; M. L. ALDER, Auteur ; Helen J. BURGESS, Auteur ; B. A. CORBETT, Auteur ; R. HUNDLEY, Auteur ; D. WOFFORD, Auteur ; D. B. FAWKES, Auteur ; L. WANG, Auteur ; M. L. LAUDENSLAGER, Auteur ; B. A. MALOW, Auteur . - p.1682-1695. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1682-1695 Mots-clés : Melatonin  Cortisol  Actigraphy  Adolescent  Sleep  Wake  Scale  Hygiene Index. décimale : PER Périodiques Résumé : We studied 28 adolescents/young adults with autism spectrum disorders (ASD) and 13 age/sex matched individuals of typical development (TD). Structured sleep histories, validated questionnaires, actigraphy (4 weeks), and salivary cortisol and melatonin (4 days each) were collected. Compared to those with TD, adolescents/young adults with ASD had longer sleep latencies and more difficulty going to bed and falling asleep. Morning cortisol, evening cortisol, and the morning-evening difference in cortisol did not differ by diagnosis (ASD vs. TD). Dim light melatonin onsets (DLMOs) averaged across participants were not different for the ASD and TD participants. Average participant scores indicated aspects of poor sleep hygiene in both groups. Insomnia in ASD is multifactorial and not solely related to physiological factors. En ligne : http://dx.doi.org/10.1007/s10803-017-3089-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308

Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders / K. 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 et/ou numérique Auteurs : K. LI, Auteur ; Z. FANG, Auteur ; G. ZHAO, Auteur ; B. LI, Auteur ; C. CHEN, Auteur ; L. XIA, Auteur ; L. WANG, Auteur ; T. LUO, Auteur ; X. WANG, Auteur ; Z. WANG, Auteur ; Y. ZHANG, Auteur ; Y. JIANG, Auteur ; Q. PAN, Auteur ; Z. HU, Auteur ; H. GUO, Auteur ; B. TANG, Auteur ; C. LIU, Auteur ; Z. SUN, Auteur ; K. XIA, Auteur ; J. LI, Auteur 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? 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 et/ou numérique] / K. LI, Auteur ; Z. FANG, Auteur ; G. ZHAO, Auteur ; B. LI, Auteur ; C. CHEN, Auteur ; L. XIA, Auteur ; L. WANG, Auteur ; T. LUO, Auteur ; X. WANG, Auteur ; Z. WANG, Auteur ; Y. ZHANG, Auteur ; Y. JIANG, Auteur ; Q. PAN, Auteur ; Z. HU, Auteur ; H. GUO, Auteur ; B. TANG, Auteur ; C. LIU, Auteur ; Z. SUN, Auteur ; K. XIA, Auteur ; J. LI, Auteur . - 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? 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

Depicting the composition of gut microbiota in children with tic disorders: an exploratory study / W. XI in Journal of Child Psychology and Psychiatry, 62-10 (October 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-10 (October 2021) . - p.1246-1254 Titre : Depicting the composition of gut microbiota in children with tic disorders: an exploratory study Type de document : Texte imprimé et/ou numérique Auteurs : W. XI, Auteur ; X. GAO, Auteur ; H. ZHAO, Auteur ; X. LUO, Auteur ; J. LI, Auteur ; X. TAN, Auteur ; L. WANG, Auteur ; J. B. ZHAO, Auteur ; J. WANG, Auteur ; G. YANG, Auteur ; L. Y. LIU, Auteur ; Y. Y. WANG, Auteur ; L. PENG, Auteur ; L. P. ZOU, Auteur ; Y. YANG, Auteur Article en page(s) : p.1246-1254 Langues : Anglais (eng) Mots-clés : Bacteroides  Child  Gastrointestinal Microbiome  Humans  Prevotella  Ruminococcus  Streptococcus  Tic Disorders  dopamine receptor antagonists  gut microbiota  metabolic pathways  metagenomics Index. décimale : PER Périodiques Résumé : BACKGROUND: Symptom improvement in children with tic disorder (TD) following fecal microbiota transplantation led us to investigate the gut microbiota in TD. This exploratory study aims to depict the gut microbial profile in patients with TD and explore the impact of dopamine receptor antagonist (DRA) drugs on the composition and metabolic function of the gut microbiota. METHODS: The gut microbiota were profiled in fecal samples of 49 children with TD and 50 matched healthy controls (HC) using shotgun metagenomic sequencing. A random forest (RF) model was constructed using the gut bacterial species to distinguish TD from HC. Associations between clinical metadata and microbial abundance or function were analyzed using MaAsLin2 and Spearman correlation. RESULTS: The gut microbiota in children with TD was featured by higher abundances of Bacteroides plebeius and Ruminococcus lactaris (a potential pro-inflammatory taxon) and lower abundances of Prevotella stercorea and Streptococcus lutetiensis compared to HC. The constructed RF model accurately distinguished TD from HC based on the gut microbiota profile, resulting in an AUC of 0.884. Significant correlations were observed between tic symptom severity and the abundances of multiple bacterial species and gut microbiota metabolic functions. Multivariate analysis identified an upregulation of 4-aminobutanoate (GABA) degradation in the gut microbiota associated with TD status. The gut microbiota of DRA-treated TD children showed a distinct gut microbiota compared to the treatment-naïve group, represented by an increase in some potential enteric pathogens such as Escherichia coli, a decline in several species including Akkermansia muciniphila, and alterations in various metabolic functions. CONCLUSIONS: Bacterial species promoting inflammatory responses and those modulating neurotransmitters such as GABA may be involved in the pathogenesis of TD. The use of DRA drugs is likely to induce overgrowth of some enteric pathogens and alter the gut microbiota metabolism. En ligne : http://dx.doi.org/10.1111/jcpp.13409 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Depicting the composition of gut microbiota in children with tic disorders: an exploratory study [Texte imprimé et/ou numérique] / W. XI, Auteur ; X. GAO, Auteur ; H. ZHAO, Auteur ; X. LUO, Auteur ; J. LI, Auteur ; X. TAN, Auteur ; L. WANG, Auteur ; J. B. ZHAO, Auteur ; J. WANG, Auteur ; G. YANG, Auteur ; L. Y. LIU, Auteur ; Y. Y. WANG, Auteur ; L. PENG, Auteur ; L. P. ZOU, Auteur ; Y. YANG, Auteur . - p.1246-1254. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-10 (October 2021) . - p.1246-1254 Mots-clés : Bacteroides  Child  Gastrointestinal Microbiome  Humans  Prevotella  Ruminococcus  Streptococcus  Tic Disorders  dopamine receptor antagonists  gut microbiota  metabolic pathways  metagenomics Index. décimale : PER Périodiques Résumé : BACKGROUND: Symptom improvement in children with tic disorder (TD) following fecal microbiota transplantation led us to investigate the gut microbiota in TD. This exploratory study aims to depict the gut microbial profile in patients with TD and explore the impact of dopamine receptor antagonist (DRA) drugs on the composition and metabolic function of the gut microbiota. METHODS: The gut microbiota were profiled in fecal samples of 49 children with TD and 50 matched healthy controls (HC) using shotgun metagenomic sequencing. A random forest (RF) model was constructed using the gut bacterial species to distinguish TD from HC. Associations between clinical metadata and microbial abundance or function were analyzed using MaAsLin2 and Spearman correlation. RESULTS: The gut microbiota in children with TD was featured by higher abundances of Bacteroides plebeius and Ruminococcus lactaris (a potential pro-inflammatory taxon) and lower abundances of Prevotella stercorea and Streptococcus lutetiensis compared to HC. The constructed RF model accurately distinguished TD from HC based on the gut microbiota profile, resulting in an AUC of 0.884. Significant correlations were observed between tic symptom severity and the abundances of multiple bacterial species and gut microbiota metabolic functions. Multivariate analysis identified an upregulation of 4-aminobutanoate (GABA) degradation in the gut microbiota associated with TD status. The gut microbiota of DRA-treated TD children showed a distinct gut microbiota compared to the treatment-naïve group, represented by an increase in some potential enteric pathogens such as Escherichia coli, a decline in several species including Akkermansia muciniphila, and alterations in various metabolic functions. CONCLUSIONS: Bacterial species promoting inflammatory responses and those modulating neurotransmitters such as GABA may be involved in the pathogenesis of TD. The use of DRA drugs is likely to induce overgrowth of some enteric pathogens and alter the gut microbiota metabolism. En ligne : http://dx.doi.org/10.1111/jcpp.13409 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Individuals with autism spectrum disorder are impaired in absolute but not relative pitch and duration matching in speech and song imitation / L. WANG in Autism Research, 14-11 (November 2021)  

Public ISBD [article]  inAutism Research > 14-11 (November 2021) . - p.2355-2372 Titre : Individuals with autism spectrum disorder are impaired in absolute but not relative pitch and duration matching in speech and song imitation Type de document : Texte imprimé et/ou numérique Auteurs : L. WANG, Auteur ; P. Q. PFORDRESHER, Auteur ; C. JIANG, Auteur ; F. LIU, Auteur Article en page(s) : p.2355-2372 Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder/complications  Child  Humans  Imitative Behavior  Singing  Speech  Voice  Asd  duration  pitch  song  speech  vocal imitation Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) often exhibit atypical imitation. However, few studies have identified clear quantitative characteristics of vocal imitation in ASD. This study investigated imitation of speech and song in English-speaking individuals with and without ASD and its modulation by age. Participants consisted of 25 autistic children and 19 autistic adults, who were compared to 25 children and 19 adults with typical development matched on age, gender, musical training, and cognitive abilities. The task required participants to imitate speech and song stimuli with varying pitch and duration patterns. Acoustic analyses of the imitation performance suggested that individuals with ASD were worse than controls on absolute pitch and duration matching for both speech and song imitation, although they performed as well as controls on relative pitch and duration matching. Furthermore, the two groups produced similar numbers of pitch contour, pitch interval-, and time errors. Across both groups, sung pitch was imitated more accurately than spoken pitch, whereas spoken duration was imitated more accurately than sung duration. Children imitated spoken pitch more accurately than adults when it came to speech stimuli, whereas age showed no significant relationship to song imitation. These results reveal a vocal imitation deficit across speech and music domains in ASD that is specific to absolute pitch and duration matching. This finding provides evidence for shared mechanisms between speech and song imitation, which involves independent implementation of relative versus absolute features. LAY SUMMARY: Individuals with autism spectrum disorder (ASD) often exhibit atypical imitation of actions and gestures. Characteristics of vocal imitation in ASD remain unclear. By comparing speech and song imitation, this study shows that individuals with ASD have a vocal imitative deficit that is specific to absolute pitch and duration matching, while performing as well as controls on relative pitch and duration matching, across speech and music domains. En ligne : http://dx.doi.org/10.1002/aur.2569 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Individuals with autism spectrum disorder are impaired in absolute but not relative pitch and duration matching in speech and song imitation [Texte imprimé et/ou numérique] / L. WANG, Auteur ; P. Q. PFORDRESHER, Auteur ; C. JIANG, Auteur ; F. LIU, Auteur . - p.2355-2372. Langues : Anglais (eng) in Autism Research > 14-11 (November 2021) . - p.2355-2372 Mots-clés : Adult  Autism Spectrum Disorder/complications  Child  Humans  Imitative Behavior  Singing  Speech  Voice  Asd  duration  pitch  song  speech  vocal imitation Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) often exhibit atypical imitation. However, few studies have identified clear quantitative characteristics of vocal imitation in ASD. This study investigated imitation of speech and song in English-speaking individuals with and without ASD and its modulation by age. Participants consisted of 25 autistic children and 19 autistic adults, who were compared to 25 children and 19 adults with typical development matched on age, gender, musical training, and cognitive abilities. The task required participants to imitate speech and song stimuli with varying pitch and duration patterns. Acoustic analyses of the imitation performance suggested that individuals with ASD were worse than controls on absolute pitch and duration matching for both speech and song imitation, although they performed as well as controls on relative pitch and duration matching. Furthermore, the two groups produced similar numbers of pitch contour, pitch interval-, and time errors. Across both groups, sung pitch was imitated more accurately than spoken pitch, whereas spoken duration was imitated more accurately than sung duration. Children imitated spoken pitch more accurately than adults when it came to speech stimuli, whereas age showed no significant relationship to song imitation. These results reveal a vocal imitation deficit across speech and music domains in ASD that is specific to absolute pitch and duration matching. This finding provides evidence for shared mechanisms between speech and song imitation, which involves independent implementation of relative versus absolute features. LAY SUMMARY: Individuals with autism spectrum disorder (ASD) often exhibit atypical imitation of actions and gestures. Characteristics of vocal imitation in ASD remain unclear. By comparing speech and song imitation, this study shows that individuals with ASD have a vocal imitative deficit that is specific to absolute pitch and duration matching, while performing as well as controls on relative pitch and duration matching, across speech and music domains. En ligne : http://dx.doi.org/10.1002/aur.2569 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Research Review: Test-retest reliability of standardized diagnostic interviews to assess child and adolescent psychiatric disorders: a systematic review and meta-analysis / L. DUNCAN in Journal of Child Psychology and Psychiatry, 60-1 (January 2019)  

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Sex differences in global and local connectivity of adolescent posttraumatic stress disorder symptoms / X. CAO in Journal of Child Psychology and Psychiatry, 60-2 (February 2019)  

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Unified framework for early stage status prediction of autism based on infant structural magnetic resonance imaging / K. GAO in Autism Research, 14-12 (December 2021)  

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