Copy number variation in Han Chinese individuals with autism spectrum disorder / MatthewJ GAZZELLONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34 Titre : Copy number variation in Han Chinese individuals with autism spectrum disorder Type de document : texte imprimé Auteurs : MatthewJ GAZZELLONE, Auteur ; Xue ZHOU, Auteur ; A.C. LIONEL, Auteur ; Mohammed UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; Caihong SUN, Auteur ; Jing WANG, Auteur ; Mingyang ZOU, Auteur ; Kristiina TAMMIMIES, Auteur ; Susan WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; John WEI, Auteur ; Ziqi WANG, Auteur ; Lijie WU, Auteur ; Stephen SCHERER, Auteur Article en page(s) : p.34 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Han Chinese  Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Copy number variation in Han Chinese individuals with autism spectrum disorder [texte imprimé] / MatthewJ GAZZELLONE, Auteur ; Xue ZHOU, Auteur ; A.C. LIONEL, Auteur ; Mohammed UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; Caihong SUN, Auteur ; Jing WANG, Auteur ; Mingyang ZOU, Auteur ; Kristiina TAMMIMIES, Auteur ; Susan WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; John WEI, Auteur ; Ziqi WANG, Auteur ; Lijie WU, Auteur ; Stephen SCHERER, Auteur . - p.34. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34 Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Han Chinese  Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Prenatal Folic Acid Supplements and Offspring's Autism Spectrum Disorder: A Meta-analysis and Meta-regression / Xian LIU in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.522-539 Titre : Prenatal Folic Acid Supplements and Offspring's Autism Spectrum Disorder: A Meta-analysis and Meta-regression Type de document : texte imprimé Auteurs : Xian LIU, Auteur ; Mingyang ZOU, Auteur ; Caihong SUN, Auteur ; Lijie WU, Auteur ; Wen-Xiong CHEN, Auteur Article en page(s) : p.522-539 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/chemically induced/epidemiology  Diet  Dietary Supplements  Female  Folic Acid  Humans  Pregnancy  Vitamins  Autism spectrum disorder  Folic acid  Meta-analysis  Meta-regression  Prenatal Index. décimale : PER Périodiques Résumé : We systematically reviewed the evidence on the association between maternal folic acid supplementation and the risk of offspring's autism spectrum disorders (ASD). A total of 10 studies with 23 sub-studies (9795 ASD cases) were included. Folic acid supplementation during early pregnancy was associated with a lower risk of offspring's ASD [OR 0.57, 95% CI 0.41-0.78]. The consumption of a daily amount of at least 400 μg folic acid from dietary sources and supplements, was associated with a reduced risk of offspring ASD [OR 0.55, 95% CI 0.36-0.83]. Critical effective maternal folic acid supplementation strategies, such as intake timing and intake dosage, may aid the reduction in the risk of offspring ASD. This meta-analysis provided new insights for the prevention of offspring's ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-04951-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Prenatal Folic Acid Supplements and Offspring's Autism Spectrum Disorder: A Meta-analysis and Meta-regression [texte imprimé] / Xian LIU, Auteur ; Mingyang ZOU, Auteur ; Caihong SUN, Auteur ; Lijie WU, Auteur ; Wen-Xiong CHEN, Auteur . - p.522-539. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.522-539 Mots-clés : Autism Spectrum Disorder/chemically induced/epidemiology  Diet  Dietary Supplements  Female  Folic Acid  Humans  Pregnancy  Vitamins  Autism spectrum disorder  Folic acid  Meta-analysis  Meta-regression  Prenatal Index. décimale : PER Périodiques Résumé : We systematically reviewed the evidence on the association between maternal folic acid supplementation and the risk of offspring's autism spectrum disorders (ASD). A total of 10 studies with 23 sub-studies (9795 ASD cases) were included. Folic acid supplementation during early pregnancy was associated with a lower risk of offspring's ASD [OR 0.57, 95% CI 0.41-0.78]. The consumption of a daily amount of at least 400 μg folic acid from dietary sources and supplements, was associated with a reduced risk of offspring ASD [OR 0.55, 95% CI 0.36-0.83]. Critical effective maternal folic acid supplementation strategies, such as intake timing and intake dosage, may aid the reduction in the risk of offspring ASD. This meta-analysis provided new insights for the prevention of offspring's ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-04951-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Prevalence of epilepsy in autism spectrum disorders: A systematic review and meta-analysis / Xian LIU in Autism, 26-1 (January 2022)  

Public ISBD [article]  inAutism > 26-1 (January 2022) . - p.33-50 Titre : Prevalence of epilepsy in autism spectrum disorders: A systematic review and meta-analysis Type de document : texte imprimé Auteurs : Xian LIU, Auteur ; Xin SUN, Auteur ; Caihong SUN, Auteur ; Mingyang ZOU, Auteur ; Yiru CHEN, Auteur ; Junping HUANG, Auteur ; Lijie WU, Auteur ; Wen-Xiong CHEN, Auteur Année de publication : 2022 Article en page(s) : p.33-50 Langues : Anglais (eng) Mots-clés : adulthood  autism spectrum disorder (ASD)  childhood  co-occurrence  epilepsy  meta-analyses Index. décimale : PER Périodiques Résumé : Autistic individuals experience higher co-occurring medical conditions than the general population, and yet the estimates of autistic individuals with epilepsy are not updated. Co-occurrence of epilepsy in autistic individuals often aggravated cognitive impairment and increased the risk of poor long-term prognosis. Thus, an updated systematic review and meta-analysis was conducted to study the relevant articles published from inception to 2020, evaluate the prevalence of epilepsy in autistic individuals, and further explore the putative factors influencing the prevalence. A total of 66 studies from 53 articles were included in this study. The results showed that epilepsy is more common in autistic individuals than in the general population. The prevalence of epilepsy in autistic individuals in the clinical sample-based studies was higher than that in the population-based based cross-sectional or cohort studies. The prevalence of epilepsy in autistic adults was higher than that in autistic children. A significantly increased prevalence of epilepsy was detected in the autistic adolescent group (11-17 years old), and a higher trend of prevalence of epilepsy was observed in the autistic pre-school group (⩽ 6 -years-old) than that of the autistic school-aged group (7-10 years-old). The prevalence of epilepsy increased with age, female rate, and low intellectual function rate of autistic individuals. However, the human development index of countries was negatively associated with the pooled prevalence, which could be attributed to the different levels of awareness, diagnostic technologies, and autism-service support worldwide. About 1/10 autistic individuals also had epilepsy, which was common in the clinical setting, adolescents, adults, females, or patients with intellectual disability and less common in the country with high human development index. Thus, these findings provided critical and innovative views on the prevalence of epilepsy in autistic individuals and contributed to the targeted clinical management and preventive measures. En ligne : http://dx.doi.org/10.1177/13623613211045029 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451 [article] Prevalence of epilepsy in autism spectrum disorders: A systematic review and meta-analysis [texte imprimé] / Xian LIU, Auteur ; Xin SUN, Auteur ; Caihong SUN, Auteur ; Mingyang ZOU, Auteur ; Yiru CHEN, Auteur ; Junping HUANG, Auteur ; Lijie WU, Auteur ; Wen-Xiong CHEN, Auteur . - 2022 . - p.33-50. Langues : Anglais (eng) in Autism > 26-1 (January 2022) . - p.33-50 Mots-clés : adulthood  autism spectrum disorder (ASD)  childhood  co-occurrence  epilepsy  meta-analyses Index. décimale : PER Périodiques Résumé : Autistic individuals experience higher co-occurring medical conditions than the general population, and yet the estimates of autistic individuals with epilepsy are not updated. Co-occurrence of epilepsy in autistic individuals often aggravated cognitive impairment and increased the risk of poor long-term prognosis. Thus, an updated systematic review and meta-analysis was conducted to study the relevant articles published from inception to 2020, evaluate the prevalence of epilepsy in autistic individuals, and further explore the putative factors influencing the prevalence. A total of 66 studies from 53 articles were included in this study. The results showed that epilepsy is more common in autistic individuals than in the general population. The prevalence of epilepsy in autistic individuals in the clinical sample-based studies was higher than that in the population-based based cross-sectional or cohort studies. The prevalence of epilepsy in autistic adults was higher than that in autistic children. A significantly increased prevalence of epilepsy was detected in the autistic adolescent group (11-17 years old), and a higher trend of prevalence of epilepsy was observed in the autistic pre-school group (⩽ 6 -years-old) than that of the autistic school-aged group (7-10 years-old). The prevalence of epilepsy increased with age, female rate, and low intellectual function rate of autistic individuals. However, the human development index of countries was negatively associated with the pooled prevalence, which could be attributed to the different levels of awareness, diagnostic technologies, and autism-service support worldwide. About 1/10 autistic individuals also had epilepsy, which was common in the clinical setting, adolescents, adults, females, or patients with intellectual disability and less common in the country with high human development index. Thus, these findings provided critical and innovative views on the prevalence of epilepsy in autistic individuals and contributed to the targeted clinical management and preventive measures. En ligne : http://dx.doi.org/10.1177/13623613211045029 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451

Supporting access to comprehensive services: A scoping review of national policies related to autism in mainland China / Yujiao HAN ; Meiyu JIN ; Wei XIE ; Chuang SHANG ; Tiantian LI ; Liwen FENG ; Caihong SUN ; Saisai ZHANG ; Lijie WU in Autism, 29-7 (July 2025)  

Public ISBD [article]  inAutism > 29-7 (July 2025) . - p.1646-1660 Titre : Supporting access to comprehensive services: A scoping review of national policies related to autism in mainland China Type de document : texte imprimé Auteurs : Yujiao HAN, Auteur ; Meiyu JIN, Auteur ; Wei XIE, Auteur ; Chuang SHANG, Auteur ; Tiantian LI, Auteur ; Liwen FENG, Auteur ; Caihong SUN, Auteur ; Saisai ZHANG, Auteur ; Lijie WU, Auteur Article en page(s) : p.1646-1660 Langues : Anglais (eng) Mots-clés : autism-associated policies  China  scoping review Index. décimale : PER Périodiques Résumé : The study was designed to review autism-associated policies, describe policy characteristics, and determine potential policy gaps compared with the recommendations set by the World Health Organization. Autism-associated policies in 15 government agencies and public institutions were thoroughly searched on ministry websites up to December 2022, where 81 of 2504 were retained. And 42 of the 81 policies were issued in 2021 and 2022. Twelve of the 15 included ministries were involved in policymaking, yet fewer than one third of the policy documents were jointly issued by multiple ministries, which are crucial for the effective implementation of autism-associated policies. Compared with the World Health Organization recommendations (the Comprehensive Mental Health Action Plan 2013-2030 and the Six Building Blocks of Health System), several areas showed a strong policy commitment, including leadership and governance, service delivery, and access to medicines and facility. Several potential gaps remained, including a relative lack of emphasis on health information and the health workforce, and insufficient attention to the community. Despite these potential gaps, encouragingly, the nation has increasingly focused on autism groups. This study can provide a basis for future policymaking to provide more comprehensive and better services for individuals with autism.Lay abstract Policies have been found to play a crucial role in supporting the health and well-being of individuals with autism. Yet, relatively few policy reviews are related to autism, and the current level of autism-associated policies and potential gaps in comparison with the World Health Organization recommendations remain unclear. Our study reviewed autism-associated policies, described policy characteristics, and determined potential policy gaps in mainland China. We conducted a comprehensive search of autism-associated policies from 15 websites of government agencies and public institutions up to December 2022, where 81 of 2504 were retained. We found that 42 of the 81 policies were issued in 2021 and 2022. Twelve of the 15 included ministries were involved in policymaking and fewer than one third of the policy documents were issued by two or more ministries. With respect to recommendations proposed by the World Health Organization (the Comprehensive Mental Health Action Plan 2013-2030 and the Six Building Blocks of Health System), several areas received extensive national attention, including leadership and governance, service delivery, and access to medicines and facility, while there was limited policy attention on the other components. Despite these potential gaps, encouragingly, the nation has increasingly focused on autism groups. This study can provide a basis for future policymaking to provide more comprehensive and better services for individuals with autism. En ligne : https://dx.doi.org/10.1177/13623613241311736 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Supporting access to comprehensive services: A scoping review of national policies related to autism in mainland China [texte imprimé] / Yujiao HAN, Auteur ; Meiyu JIN, Auteur ; Wei XIE, Auteur ; Chuang SHANG, Auteur ; Tiantian LI, Auteur ; Liwen FENG, Auteur ; Caihong SUN, Auteur ; Saisai ZHANG, Auteur ; Lijie WU, Auteur . - p.1646-1660. Langues : Anglais (eng) in Autism > 29-7 (July 2025) . - p.1646-1660 Mots-clés : autism-associated policies  China  scoping review Index. décimale : PER Périodiques Résumé : The study was designed to review autism-associated policies, describe policy characteristics, and determine potential policy gaps compared with the recommendations set by the World Health Organization. Autism-associated policies in 15 government agencies and public institutions were thoroughly searched on ministry websites up to December 2022, where 81 of 2504 were retained. And 42 of the 81 policies were issued in 2021 and 2022. Twelve of the 15 included ministries were involved in policymaking, yet fewer than one third of the policy documents were jointly issued by multiple ministries, which are crucial for the effective implementation of autism-associated policies. Compared with the World Health Organization recommendations (the Comprehensive Mental Health Action Plan 2013-2030 and the Six Building Blocks of Health System), several areas showed a strong policy commitment, including leadership and governance, service delivery, and access to medicines and facility. Several potential gaps remained, including a relative lack of emphasis on health information and the health workforce, and insufficient attention to the community. Despite these potential gaps, encouragingly, the nation has increasingly focused on autism groups. This study can provide a basis for future policymaking to provide more comprehensive and better services for individuals with autism.Lay abstract Policies have been found to play a crucial role in supporting the health and well-being of individuals with autism. Yet, relatively few policy reviews are related to autism, and the current level of autism-associated policies and potential gaps in comparison with the World Health Organization recommendations remain unclear. Our study reviewed autism-associated policies, described policy characteristics, and determined potential policy gaps in mainland China. We conducted a comprehensive search of autism-associated policies from 15 websites of government agencies and public institutions up to December 2022, where 81 of 2504 were retained. We found that 42 of the 81 policies were issued in 2021 and 2022. Twelve of the 15 included ministries were involved in policymaking and fewer than one third of the policy documents were issued by two or more ministries. With respect to recommendations proposed by the World Health Organization (the Comprehensive Mental Health Action Plan 2013-2030 and the Six Building Blocks of Health System), several areas received extensive national attention, including leadership and governance, service delivery, and access to medicines and facility, while there was limited policy attention on the other components. Despite these potential gaps, encouragingly, the nation has increasingly focused on autism groups. This study can provide a basis for future policymaking to provide more comprehensive and better services for individuals with autism. En ligne : https://dx.doi.org/10.1177/13623613241311736 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

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