Integrated genome-wide Alu methylation and transcriptome profiling analyses reveal novel epigenetic regulatory networks associated with autism spectrum disorder / Thanit SAELIW in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 27p. Titre : Integrated genome-wide Alu methylation and transcriptome profiling analyses reveal novel epigenetic regulatory networks associated with autism spectrum disorder Type de document : texte imprimé Auteurs : Thanit SAELIW, Auteur ; Chayanin TANGSUWANSRI, Auteur ; Surangrat THONGKORN, Auteur ; Weerasak CHONCHAIYA, Auteur ; Kanya SUPHAPEETIPORN, Auteur ; Apiwat MUTIRANGURA, Auteur ; Tewin TENCOMNAO, Auteur ; Valerie W. HU, Auteur ; Tewarit SARACHANA, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Alu Elements  Autism Spectrum Disorder/genetics  Case-Control Studies  Cells, Cultured  DNA Methylation  Epigenesis, Genetic  Female  Gene Regulatory Networks  Genome, Human  Humans  Male  Transcriptome  Autism spectrum disorder  Epigenetic regulation  Gene expression profiles  Lymphoblastoid cell lines  Neuroinflammation  Retrotransposon  Sex bias  Subgrouping Index. décimale : PER Périodiques Résumé : Background: Alu elements are a group of repetitive elements that can influence gene expression through CpG residues and transcription factor binding. Altered gene expression and methylation profiles have been reported in various tissues and cell lines from individuals with autism spectrum disorder (ASD). However, the role of Alu elements in ASD remains unclear. We thus investigated whether Alu elements are associated with altered gene expression profiles in ASD. Methods: We obtained five blood-based gene expression profiles from the Gene Expression Omnibus database and human Alu-inserted gene lists from the TranspoGene database. Differentially expressed genes (DEGs) in ASD were identified from each study and overlapped with the human Alu-inserted genes. The biological functions and networks of Alu-inserted DEGs were then predicted by Ingenuity Pathway Analysis (IPA). A combined bisulfite restriction analysis of lymphoblastoid cell lines (LCLs) derived from 36 ASD and 20 sex- and age-matched unaffected individuals was performed to assess the global DNA methylation levels within Alu elements, and the Alu expression levels were determined by quantitative RT-PCR. Results: In ASD blood or blood-derived cells, 320 Alu-inserted genes were reproducibly differentially expressed. Biological function and pathway analysis showed that these genes were significantly associated with neurodevelopmental disorders and neurological functions involved in ASD etiology. Interestingly, estrogen receptor and androgen signaling pathways implicated in the sex bias of ASD, as well as IL-6 signaling and neuroinflammation signaling pathways, were also highlighted. Alu methylation was not significantly different between the ASD and sex- and age-matched control groups. However, significantly altered Alu methylation patterns were observed in ASD cases sub-grouped based on Autism Diagnostic Interview-Revised scores compared with matched controls. Quantitative RT-PCR analysis of Alu expression also showed significant differences between ASD subgroups. Interestingly, Alu expression was correlated with methylation status in one phenotypic ASD subgroup. Conclusion: Alu methylation and expression were altered in LCLs from ASD subgroups. Our findings highlight the association of Alu elements with gene dysregulation in ASD blood samples and warrant further investigation. Moreover, the classification of ASD individuals into subgroups based on phenotypes may be beneficial and could provide insights into the still unknown etiology and the underlying mechanisms of ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0213-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Integrated genome-wide Alu methylation and transcriptome profiling analyses reveal novel epigenetic regulatory networks associated with autism spectrum disorder [texte imprimé] / Thanit SAELIW, Auteur ; Chayanin TANGSUWANSRI, Auteur ; Surangrat THONGKORN, Auteur ; Weerasak CHONCHAIYA, Auteur ; Kanya SUPHAPEETIPORN, Auteur ; Apiwat MUTIRANGURA, Auteur ; Tewin TENCOMNAO, Auteur ; Valerie W. HU, Auteur ; Tewarit SARACHANA, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 27p. Mots-clés : Alu Elements  Autism Spectrum Disorder/genetics  Case-Control Studies  Cells, Cultured  DNA Methylation  Epigenesis, Genetic  Female  Gene Regulatory Networks  Genome, Human  Humans  Male  Transcriptome  Autism spectrum disorder  Epigenetic regulation  Gene expression profiles  Lymphoblastoid cell lines  Neuroinflammation  Retrotransposon  Sex bias  Subgrouping Index. décimale : PER Périodiques Résumé : Background: Alu elements are a group of repetitive elements that can influence gene expression through CpG residues and transcription factor binding. Altered gene expression and methylation profiles have been reported in various tissues and cell lines from individuals with autism spectrum disorder (ASD). However, the role of Alu elements in ASD remains unclear. We thus investigated whether Alu elements are associated with altered gene expression profiles in ASD. Methods: We obtained five blood-based gene expression profiles from the Gene Expression Omnibus database and human Alu-inserted gene lists from the TranspoGene database. Differentially expressed genes (DEGs) in ASD were identified from each study and overlapped with the human Alu-inserted genes. The biological functions and networks of Alu-inserted DEGs were then predicted by Ingenuity Pathway Analysis (IPA). A combined bisulfite restriction analysis of lymphoblastoid cell lines (LCLs) derived from 36 ASD and 20 sex- and age-matched unaffected individuals was performed to assess the global DNA methylation levels within Alu elements, and the Alu expression levels were determined by quantitative RT-PCR. Results: In ASD blood or blood-derived cells, 320 Alu-inserted genes were reproducibly differentially expressed. Biological function and pathway analysis showed that these genes were significantly associated with neurodevelopmental disorders and neurological functions involved in ASD etiology. Interestingly, estrogen receptor and androgen signaling pathways implicated in the sex bias of ASD, as well as IL-6 signaling and neuroinflammation signaling pathways, were also highlighted. Alu methylation was not significantly different between the ASD and sex- and age-matched control groups. However, significantly altered Alu methylation patterns were observed in ASD cases sub-grouped based on Autism Diagnostic Interview-Revised scores compared with matched controls. Quantitative RT-PCR analysis of Alu expression also showed significant differences between ASD subgroups. Interestingly, Alu expression was correlated with methylation status in one phenotypic ASD subgroup. Conclusion: Alu methylation and expression were altered in LCLs from ASD subgroups. Our findings highlight the association of Alu elements with gene dysregulation in ASD blood samples and warrant further investigation. Moreover, the classification of ASD individuals into subgroups based on phenotypes may be beneficial and could provide insights into the still unknown etiology and the underlying mechanisms of ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0213-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review / Tri Indah WINARNI in Autism Research and Treatment, (March 2012)  

Public ISBD [article]  inAutism Research and Treatment > (March 2012) . - 8 p. Titre : Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review Type de document : texte imprimé Auteurs : Tri Indah WINARNI, Auteur ; Weerasak CHONCHAIYA, Auteur ; Evan ADAMS, Auteur ; Jacky W. AU, Auteur ; Yi MU, Auteur ; Susan M. RIVERA, Auteur ; Danh V. NGUYEN, Auteur ; Randi J. HAGERMAN, Auteur Année de publication : 2012 Article en page(s) : 8 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Young children with fragile X syndrome (FXS) often experience anxiety, irritability, and hyperactivity related to sensory hyperarousal. However, there are no medication recommendations with documented efficacy for children under 5 years old of age with FXS. We examined data through a chart review for 45 children with FXS, 12–50 months old, using the Mullen Scales of Early Learning (MSEL) for baseline and longitudinal assessments. All children had clinical level of anxiety, language delays based on MSEL scores, and similar early learning composite (ELC) scores at their first visit to our clinic. Incidence of autism spectrum disorder (ASD) was similar in both groups. There were 11 children who were treated with sertraline, and these patients were retrospectively compared to 34 children who were not treated with sertraline by chart review. The baseline assessments were done at ages ranging from 18 to 44 months (mean 26.9, SD 7.99) and from 12 to 50 months (mean 29.94, SD 8.64) for treated and not treated groups, respectively. Mean rate of improvement in both expressive and receptive language development was significantly higher in the group who was treated with sertraline ( �� < 0 . 0 0 0 1 and �� = 0 . 0 0 7 1 , resp.). This data supports the need for a controlled trial of sertraline treatment in young children with FXS. En ligne : http://dx.doi.org/10.1155/2012/104317 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review [texte imprimé] / Tri Indah WINARNI, Auteur ; Weerasak CHONCHAIYA, Auteur ; Evan ADAMS, Auteur ; Jacky W. AU, Auteur ; Yi MU, Auteur ; Susan M. RIVERA, Auteur ; Danh V. NGUYEN, Auteur ; Randi J. HAGERMAN, Auteur . - 2012 . - 8 p. Langues : Anglais (eng) in Autism Research and Treatment > (March 2012) . - 8 p. Index. décimale : PER Périodiques Résumé : Young children with fragile X syndrome (FXS) often experience anxiety, irritability, and hyperactivity related to sensory hyperarousal. However, there are no medication recommendations with documented efficacy for children under 5 years old of age with FXS. We examined data through a chart review for 45 children with FXS, 12–50 months old, using the Mullen Scales of Early Learning (MSEL) for baseline and longitudinal assessments. All children had clinical level of anxiety, language delays based on MSEL scores, and similar early learning composite (ELC) scores at their first visit to our clinic. Incidence of autism spectrum disorder (ASD) was similar in both groups. There were 11 children who were treated with sertraline, and these patients were retrospectively compared to 34 children who were not treated with sertraline by chart review. The baseline assessments were done at ages ranging from 18 to 44 months (mean 26.9, SD 7.99) and from 12 to 50 months (mean 29.94, SD 8.64) for treated and not treated groups, respectively. Mean rate of improvement in both expressive and receptive language development was significantly higher in the group who was treated with sertraline ( �� < 0 . 0 0 0 1 and �� = 0 . 0 0 7 1 , resp.). This data supports the need for a controlled trial of sertraline treatment in young children with FXS. En ligne : http://dx.doi.org/10.1155/2012/104317 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

Two-Step Screening of the Modified Checklist for Autism in Toddlers in Thai Children with Language Delay and Typically Developing Children / Pornchada SRISINGHASONGKRAM in Journal of Autism and Developmental Disorders, 46-10 (October 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-10 (October 2016) . - p.3317-3329 Titre : Two-Step Screening of the Modified Checklist for Autism in Toddlers in Thai Children with Language Delay and Typically Developing Children Type de document : texte imprimé Auteurs : Pornchada SRISINGHASONGKRAM, Auteur ; Chandhita PRUKSANANONDA, Auteur ; Weerasak CHONCHAIYA, Auteur Article en page(s) : p.3317-3329 Langues : Anglais (eng) Mots-clés : Autism  Delayed language  M-CHAT  Screening  Speech Index. décimale : PER Périodiques Résumé : This study aimed to validate the use of two-step Modified Checklist for Autism in Toddlers (M-CHAT) screening adapted for a Thai population. Our participants included both high-risk children with language delay (N = 109) and low-risk children with typical development (N = 732). Compared with the critical scoring criteria, the total scoring method (failing ≥3 items) yielded the highest sensitivity of 90.7 %; specificity was 99.7 %, positive predictive value 96.1 %, and negative predictive value 99.4 %. The two-step M-CHAT screening is a promising instrument that can be utilized to detect ASD in Thai children in both primary and clinical settings. Moreover, socio-cultural context should be considered when adopting the use and interpretation of the M-CHAT for each country. En ligne : http://dx.doi.org/10.1007/s10803-016-2876-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293 [article] Two-Step Screening of the Modified Checklist for Autism in Toddlers in Thai Children with Language Delay and Typically Developing Children [texte imprimé] / Pornchada SRISINGHASONGKRAM, Auteur ; Chandhita PRUKSANANONDA, Auteur ; Weerasak CHONCHAIYA, Auteur . - p.3317-3329. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-10 (October 2016) . - p.3317-3329 Mots-clés : Autism  Delayed language  M-CHAT  Screening  Speech Index. décimale : PER Périodiques Résumé : This study aimed to validate the use of two-step Modified Checklist for Autism in Toddlers (M-CHAT) screening adapted for a Thai population. Our participants included both high-risk children with language delay (N = 109) and low-risk children with typical development (N = 732). Compared with the critical scoring criteria, the total scoring method (failing ≥3 items) yielded the highest sensitivity of 90.7 %; specificity was 99.7 %, positive predictive value 96.1 %, and negative predictive value 99.4 %. The two-step M-CHAT screening is a promising instrument that can be utilized to detect ASD in Thai children in both primary and clinical settings. Moreover, socio-cultural context should be considered when adopting the use and interpretation of the M-CHAT for each country. En ligne : http://dx.doi.org/10.1007/s10803-016-2876-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293

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