Alterations in hub organization in the white matter structural network in toddlers with autism spectrum disorder: A 2-year follow-up study / Lu QIAN in Autism Research, 11-9 (September 2018)  

Public ISBD [article]  inAutism Research > 11-9 (September 2018) . - p.1218-1228 Titre : Alterations in hub organization in the white matter structural network in toddlers with autism spectrum disorder: A 2-year follow-up study Type de document : texte imprimé Auteurs : Lu QIAN, Auteur ; Yao WANG, Auteur ; Kangkang CHU, Auteur ; Yun LI, Auteur ; ChaoYong XIAO, Auteur ; Ting XIAO, Auteur ; Xiang XIAO, Auteur ; Ting QIU, Auteur ; YunHua XIAO, Auteur ; Hui FANG, Auteur ; Xiaoyan KE, Auteur Année de publication : 2018 Article en page(s) : p.1218-1228 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  brain network  developmental trajectory  hubs  neuromechanism Index. décimale : PER Périodiques Résumé : Little is currently known about the longitudinal developmental patterns of hubs in the whole-brain white matter (WM) structural networks among toddlers with autism spectrum disorder (ASD). This study utilized diffusion tensor imaging (DTI) and deterministic tractography to map the WM structural networks in 37 ASD toddlers and 27 age-, gender- and developmental quotient-matched controls with developmental delay (DD) toddlers aged 2-3 years old at baseline (Time 1) and at 2-year follow-up (Time 2). Furthermore, graph-theoretical methods were applied to investigate alterations in the network hubs in these patients at the two time points. The results showed that after 2 years, 17 hubs were identified in the ASD subjects compared to the controls, including 13 hubs that had not changed from baseline and 4 hubs that were newly identified. In addition, alterations in the properties of the hubs of the right middle frontal gyrus, right insula, left median cingulate gyri, and bilateral precuneus were significantly correlated with alterations in the behavioral data for ASD patients. These results indicated that at the stage of 2-5 years of age, ASD children showed distributions of network hubs that were relatively stable, with minor differences. Abnormal developmental patterns in the five areas mentioned above in ASD may contribute to abnormalities in the social and nonsocial characteristics of this disorder. Autism Res 2018, 11: 1218-1228. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This work studied the longitudinal developmental patterns of hubs in the whole-brain white matter (WM) structural network among toddlers with autism spectrum disorder (ASD). The findings of this study could have implications for understanding how the abnormalities in hub organization in ASD account for behavioral deficits in patients and may provide potential biomarkers for disease diagnosis and the subsequent monitoring of progression and treatment effects for patients with ASD. En ligne : http://dx.doi.org/10.1002/aur.1983 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 [article] Alterations in hub organization in the white matter structural network in toddlers with autism spectrum disorder: A 2-year follow-up study [texte imprimé] / Lu QIAN, Auteur ; Yao WANG, Auteur ; Kangkang CHU, Auteur ; Yun LI, Auteur ; ChaoYong XIAO, Auteur ; Ting XIAO, Auteur ; Xiang XIAO, Auteur ; Ting QIU, Auteur ; YunHua XIAO, Auteur ; Hui FANG, Auteur ; Xiaoyan KE, Auteur . - 2018 . - p.1218-1228. Langues : Anglais (eng) in Autism Research > 11-9 (September 2018) . - p.1218-1228 Mots-clés : autism spectrum disorder  brain network  developmental trajectory  hubs  neuromechanism Index. décimale : PER Périodiques Résumé : Little is currently known about the longitudinal developmental patterns of hubs in the whole-brain white matter (WM) structural networks among toddlers with autism spectrum disorder (ASD). This study utilized diffusion tensor imaging (DTI) and deterministic tractography to map the WM structural networks in 37 ASD toddlers and 27 age-, gender- and developmental quotient-matched controls with developmental delay (DD) toddlers aged 2-3 years old at baseline (Time 1) and at 2-year follow-up (Time 2). Furthermore, graph-theoretical methods were applied to investigate alterations in the network hubs in these patients at the two time points. The results showed that after 2 years, 17 hubs were identified in the ASD subjects compared to the controls, including 13 hubs that had not changed from baseline and 4 hubs that were newly identified. In addition, alterations in the properties of the hubs of the right middle frontal gyrus, right insula, left median cingulate gyri, and bilateral precuneus were significantly correlated with alterations in the behavioral data for ASD patients. These results indicated that at the stage of 2-5 years of age, ASD children showed distributions of network hubs that were relatively stable, with minor differences. Abnormal developmental patterns in the five areas mentioned above in ASD may contribute to abnormalities in the social and nonsocial characteristics of this disorder. Autism Res 2018, 11: 1218-1228. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This work studied the longitudinal developmental patterns of hubs in the whole-brain white matter (WM) structural network among toddlers with autism spectrum disorder (ASD). The findings of this study could have implications for understanding how the abnormalities in hub organization in ASD account for behavioral deficits in patients and may provide potential biomarkers for disease diagnosis and the subsequent monitoring of progression and treatment effects for patients with ASD. En ligne : http://dx.doi.org/10.1002/aur.1983 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369

Childhood high-frequency EEG activity during sleep is associated with incident insomnia symptoms in adolescence / Julio FERNANDEZ-MENDOZA in Journal of Child Psychology and Psychiatry, 60-7 (July 2019)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 60-7 (July 2019) . - p.742-751 Titre : Childhood high-frequency EEG activity during sleep is associated with incident insomnia symptoms in adolescence Type de document : texte imprimé Auteurs : Julio FERNANDEZ-MENDOZA, Auteur ; Yun LI, Auteur ; Jing FANG, Auteur ; Susan L. CALHOUN, Auteur ; Alexandros N. VGONTZAS, Auteur ; Duanping LIAO, Auteur ; Edward O BIXLER, Auteur Année de publication : 2019 Article en page(s) : p.742-751 Langues : Anglais (eng) Mots-clés : adolescence  beta  childhood  electroencephalogram  hyperarousal  incidence  insomnia symptoms Index. décimale : PER Périodiques Résumé : BACKGROUND: Insomnia has been associated in cross-sectional studies with increased beta (15-35 Hz) electroencephalogram (EEG) power during nonrapid eye movement (NREM) sleep, an index of cortical hyperarousal. However, it is unknown whether this cortical hyperarousal is present before individuals with insomnia develop the disorder. To fill this gap, we examined the association of childhood sleep high-frequency EEG activity with incident insomnia symptoms (i.e., absence of insomnia symptoms in childhood but presence in adolescence). METHODS: We studied a case-control subsample of 45 children (6-11 years) from the Penn State Child Cohort, a population-based random sample of 421 children, who were followed up after 8 years as adolescents (13-20 years). We examined low-beta (15-25 Hz) and high-beta (25-35 Hz) relative power at central EEG derivations during NREM sleep and, in secondary analyses, during sleep onset latency, sleep onset, and REM sleep. Incident insomnia symptoms were defined as the absence of parent-reported difficulty falling and/or staying asleep during childhood and a self-report of these insomnia symptoms during adolescence. RESULTS: Childhood high-beta power during NREM sleep was significantly increased in children who developed insomnia symptoms in adolescence (n = 25) as compared to normal sleeping controls (n = 20; p = .03). Multivariable-adjusted logistic regression models showed that increased childhood high-beta EEG power during NREM sleep was associated with a threefold increased odds (95% CI = 1.12-7.98) of incident insomnia symptoms in adolescence. No other significant relationships were observed for other sleep/wake states or EEG frequency bands. CONCLUSIONS: Increased childhood high-frequency EEG power during NREM sleep is associated with incident insomnia symptoms in adolescence. This study indicates that cortical hyperarousal during sleep may be a premorbid neurophysiological sign of insomnia, which may mediate the increased risk of psychiatric disorders associated with insomnia. En ligne : http://dx.doi.org/10.1111/jcpp.12945 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=401 [article] Childhood high-frequency EEG activity during sleep is associated with incident insomnia symptoms in adolescence [texte imprimé] / Julio FERNANDEZ-MENDOZA, Auteur ; Yun LI, Auteur ; Jing FANG, Auteur ; Susan L. CALHOUN, Auteur ; Alexandros N. VGONTZAS, Auteur ; Duanping LIAO, Auteur ; Edward O BIXLER, Auteur . - 2019 . - p.742-751. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 60-7 (July 2019) . - p.742-751 Mots-clés : adolescence  beta  childhood  electroencephalogram  hyperarousal  incidence  insomnia symptoms Index. décimale : PER Périodiques Résumé : BACKGROUND: Insomnia has been associated in cross-sectional studies with increased beta (15-35 Hz) electroencephalogram (EEG) power during nonrapid eye movement (NREM) sleep, an index of cortical hyperarousal. However, it is unknown whether this cortical hyperarousal is present before individuals with insomnia develop the disorder. To fill this gap, we examined the association of childhood sleep high-frequency EEG activity with incident insomnia symptoms (i.e., absence of insomnia symptoms in childhood but presence in adolescence). METHODS: We studied a case-control subsample of 45 children (6-11 years) from the Penn State Child Cohort, a population-based random sample of 421 children, who were followed up after 8 years as adolescents (13-20 years). We examined low-beta (15-25 Hz) and high-beta (25-35 Hz) relative power at central EEG derivations during NREM sleep and, in secondary analyses, during sleep onset latency, sleep onset, and REM sleep. Incident insomnia symptoms were defined as the absence of parent-reported difficulty falling and/or staying asleep during childhood and a self-report of these insomnia symptoms during adolescence. RESULTS: Childhood high-beta power during NREM sleep was significantly increased in children who developed insomnia symptoms in adolescence (n = 25) as compared to normal sleeping controls (n = 20; p = .03). Multivariable-adjusted logistic regression models showed that increased childhood high-beta EEG power during NREM sleep was associated with a threefold increased odds (95% CI = 1.12-7.98) of incident insomnia symptoms in adolescence. No other significant relationships were observed for other sleep/wake states or EEG frequency bands. CONCLUSIONS: Increased childhood high-frequency EEG power during NREM sleep is associated with incident insomnia symptoms in adolescence. This study indicates that cortical hyperarousal during sleep may be a premorbid neurophysiological sign of insomnia, which may mediate the increased risk of psychiatric disorders associated with insomnia. En ligne : http://dx.doi.org/10.1111/jcpp.12945 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=401

Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study / Linyan FU in Autism Research, 15-4 (April 2022)  

Public ISBD [article]  inAutism Research > 15-4 (April 2022) . - p.628-640 Titre : Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study Type de document : texte imprimé Auteurs : Linyan FU, Auteur ; Chunyan LI, Auteur ; Yun LI, Auteur ; Xin CHENG, Auteur ; Xiwen CUI, Auteur ; Jiying JIANG, Auteur ; Ning DING, Auteur ; Hui FANG, Auteur ; Tianyu TANG, Auteur ; Xiaoyan KE, Auteur Article en page(s) : p.628-640 Langues : Anglais (eng) Mots-clés : Anisotropy  Autism Spectrum Disorder/diagnostic imaging/genetics  Child  Child, Preschool  Diffusion Magnetic Resonance Imaging  Diffusion Tensor Imaging/methods  Humans  White Matter  autism spectrum disorder  environmental effects  genetic factors  limbic tracts  twins Index. décimale : PER Périodiques Résumé : Although the limbic system is closely related to emotion and social behaviors, little is known about the integrity of limbic pathways and how genetics influence the anatomical abnormalities of limbic networks in children with autism spectrum disorder (ASD). Therefore, we used an ASD twin study design to evaluate the microstructural integrity and autism-related differences in limbic pathways of young children with ASD and to estimate the heritability of limbic tracts microstructure variance. We obtained diffusion tensor imaging scans from 33 pairs of twins with ASD aged 2-9 years and 20 age-matched typically developing children. The ACE model was used to estimate the relative effects of additive genetic factors (A), shared environmental factors (C) and specific environmental factors (E) on the variability of diffusivity measurements. We found a significant decrease in fractional anisotropy (FA) in the bilateral fornix and uncinate fasciculus (UF), as well as increased mean diffusivity (MD) and radial diffusivity (RD) in the bilateral fornix and right UF of ASD children. Correlation analysis showed that FA, MD, and lateralization indices of UF were correlated with autism diagnostic observation schedule scores. The ACE model revealed that genetic effects may drive some of the variability of microstructure in the bilateral fornix, cingulum, and left UF. In conclusion, in children with ASD, there are abnormalities in the white matter microstructure of the limbic system, which is related to the core symptoms; these abnormalities may be related to the relative contribution of genetic and environmental effects on specific tracts. LAY SUMMARY: Autism spectrum disorder (ASD) children have abnormal white matter structure in limbic system related to ASD symptoms, and genetic factors play an important role in the development of limbic tracts. En ligne : https://dx.doi.org/10.1002/aur.2686 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Heritability of abnormalities in limbic networks of autism spectrum disorder children: Evidence from an autism spectrum disorder twin study [texte imprimé] / Linyan FU, Auteur ; Chunyan LI, Auteur ; Yun LI, Auteur ; Xin CHENG, Auteur ; Xiwen CUI, Auteur ; Jiying JIANG, Auteur ; Ning DING, Auteur ; Hui FANG, Auteur ; Tianyu TANG, Auteur ; Xiaoyan KE, Auteur . - p.628-640. Langues : Anglais (eng) in Autism Research > 15-4 (April 2022) . - p.628-640 Mots-clés : Anisotropy  Autism Spectrum Disorder/diagnostic imaging/genetics  Child  Child, Preschool  Diffusion Magnetic Resonance Imaging  Diffusion Tensor Imaging/methods  Humans  White Matter  autism spectrum disorder  environmental effects  genetic factors  limbic tracts  twins Index. décimale : PER Périodiques Résumé : Although the limbic system is closely related to emotion and social behaviors, little is known about the integrity of limbic pathways and how genetics influence the anatomical abnormalities of limbic networks in children with autism spectrum disorder (ASD). Therefore, we used an ASD twin study design to evaluate the microstructural integrity and autism-related differences in limbic pathways of young children with ASD and to estimate the heritability of limbic tracts microstructure variance. We obtained diffusion tensor imaging scans from 33 pairs of twins with ASD aged 2-9 years and 20 age-matched typically developing children. The ACE model was used to estimate the relative effects of additive genetic factors (A), shared environmental factors (C) and specific environmental factors (E) on the variability of diffusivity measurements. We found a significant decrease in fractional anisotropy (FA) in the bilateral fornix and uncinate fasciculus (UF), as well as increased mean diffusivity (MD) and radial diffusivity (RD) in the bilateral fornix and right UF of ASD children. Correlation analysis showed that FA, MD, and lateralization indices of UF were correlated with autism diagnostic observation schedule scores. The ACE model revealed that genetic effects may drive some of the variability of microstructure in the bilateral fornix, cingulum, and left UF. In conclusion, in children with ASD, there are abnormalities in the white matter microstructure of the limbic system, which is related to the core symptoms; these abnormalities may be related to the relative contribution of genetic and environmental effects on specific tracts. LAY SUMMARY: Autism spectrum disorder (ASD) children have abnormal white matter structure in limbic system related to ASD symptoms, and genetic factors play an important role in the development of limbic tracts. En ligne : https://dx.doi.org/10.1002/aur.2686 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

High definition transcranial direct current stimulation of the Cz improves social dysfunction in children with autism spectrum disorder: A randomized, sham, controlled study / Yonglu WANG in Autism Research, 16-10 (October 2023)  

Public ISBD [article]  inAutism Research > 16-10 (October 2023) . - p.2035-2048 Titre : High definition transcranial direct current stimulation of the Cz improves social dysfunction in children with autism spectrum disorder: A randomized, sham, controlled study Type de document : texte imprimé Auteurs : Yonglu WANG, Auteur ; Fei WANG, Auteur ; Yue KONG, Auteur ; Tianshu GAO, Auteur ; Qingyao ZHU, Auteur ; Lu HAN, Auteur ; Bei SUN, Auteur ; Luyang GUAN, Auteur ; Ziyi ZHANG, Auteur ; Yuxin QIAN, Auteur ; Lingxi XU, Auteur ; Yun LI, Auteur ; Hui FANG, Auteur ; Gongkai JIAO, Auteur ; Xiaoyan KE, Auteur Article en page(s) : p.2035-2048 Index. décimale : PER Périodiques Résumé : Abstract The purpose of this study was to determine the effect of the Cz of high-definition 5-channel tDCS (HD-tDCS) on social function in 4-12 years-old children with autism spectrum disorder (ASD). This study was a randomized, double-blind, pseudo-controlled trial in which 45 ASD children were recruited and divided into three groups with sex, age, and rehabilitation treatment as control variables. Each group of 15 children with ASD was randomly administered active HD-tDCS with the Cz as the central anode, active HD-tDCS with the left dorsolateral prefrontal cortex (F3) as the central anode, and sham HD-tDCS with the Cz as the central anode with 14 daily sessions in 3 weeks. The Social Responsiveness Scale Chinese Version (SRS-Chinese Version) was compared 1 week after stimulation with values recorded 1 week prior to stimulation. At the end of treatment, both the anodal Cz and anodal left DLFPC tDCS decreased the measures of SRS-Chinese Version. The total score of SRS-Chinese Version decreased by 13.08%, social cognition decreased by 18.33%, and social communication decreased by 10.79%, which were significantly improved over the Cz central anode active stimulation group, especially in children with young age, and middle and low function. There was no significant change in the total score and subscale score of SRS-Chinese Version over the Cz central anode sham stimulation group. In the F3 central anode active stimulation group, the total score of SRS-Chinese Version decreased by 13%, autistic behavior decreased by 19.39%, and social communication decreased by 14.39%, which were all significantly improved. However, there was no significant difference in effect between the Cz and left DLPFC stimulation conditions. HD-tDCS of the Cz central anode may be an effective treatment for social dysfunction in children with ASD. En ligne : https://doi.org/10.1002/aur.3018 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] High definition transcranial direct current stimulation of the Cz improves social dysfunction in children with autism spectrum disorder: A randomized, sham, controlled study [texte imprimé] / Yonglu WANG, Auteur ; Fei WANG, Auteur ; Yue KONG, Auteur ; Tianshu GAO, Auteur ; Qingyao ZHU, Auteur ; Lu HAN, Auteur ; Bei SUN, Auteur ; Luyang GUAN, Auteur ; Ziyi ZHANG, Auteur ; Yuxin QIAN, Auteur ; Lingxi XU, Auteur ; Yun LI, Auteur ; Hui FANG, Auteur ; Gongkai JIAO, Auteur ; Xiaoyan KE, Auteur . - p.2035-2048. in Autism Research > 16-10 (October 2023) . - p.2035-2048 Index. décimale : PER Périodiques Résumé : Abstract The purpose of this study was to determine the effect of the Cz of high-definition 5-channel tDCS (HD-tDCS) on social function in 4-12 years-old children with autism spectrum disorder (ASD). This study was a randomized, double-blind, pseudo-controlled trial in which 45 ASD children were recruited and divided into three groups with sex, age, and rehabilitation treatment as control variables. Each group of 15 children with ASD was randomly administered active HD-tDCS with the Cz as the central anode, active HD-tDCS with the left dorsolateral prefrontal cortex (F3) as the central anode, and sham HD-tDCS with the Cz as the central anode with 14 daily sessions in 3 weeks. The Social Responsiveness Scale Chinese Version (SRS-Chinese Version) was compared 1 week after stimulation with values recorded 1 week prior to stimulation. At the end of treatment, both the anodal Cz and anodal left DLFPC tDCS decreased the measures of SRS-Chinese Version. The total score of SRS-Chinese Version decreased by 13.08%, social cognition decreased by 18.33%, and social communication decreased by 10.79%, which were significantly improved over the Cz central anode active stimulation group, especially in children with young age, and middle and low function. There was no significant change in the total score and subscale score of SRS-Chinese Version over the Cz central anode sham stimulation group. In the F3 central anode active stimulation group, the total score of SRS-Chinese Version decreased by 13%, autistic behavior decreased by 19.39%, and social communication decreased by 14.39%, which were all significantly improved. However, there was no significant difference in effect between the Cz and left DLPFC stimulation conditions. HD-tDCS of the Cz central anode may be an effective treatment for social dysfunction in children with ASD. En ligne : https://doi.org/10.1002/aur.3018 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm / Weifang LIU in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm Type de document : texte imprimé Auteurs : Weifang LIU, Auteur ; Quan SUN, Auteur ; Le HUANG, Auteur ; Arjun BHATTACHARYA, Auteur ; Geoffery W. WANG, Auteur ; Xianming TAN, Auteur ; Karl C.K. KUBAN, Auteur ; Robert M. JOSEPH, Auteur ; T. Michael O'SHEA, Auteur ; Rebecca C. FRY, Auteur ; Yun LI, Auteur ; Hudson P. Jr SANTOS, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Brain  Child  Child, Preschool  Cognitive Dysfunction/genetics  DNA-Binding Proteins  Genome-Wide Association Study  Humans  Infant, Extremely Premature/psychology  Infant, Newborn  Muscle Proteins  Prospective Studies  TEA Domain Transcription Factors  Transcription Factors  Young Adult  Cognitive impairment  Genetic mechanisms  Genome-wide association study (GWAS)  Latent profile analysis (LPA)  Neurodevelopment  Preterm children Index. décimale : PER Périodiques Résumé : BACKGROUND: Although survival rates for infants born extremely preterm (gestation < 28 weeks) have improved significantly in recent decades, neurodevelopmental impairment remains a major concern. Children born extremely preterm remain at high risk for cognitive impairment from early childhood to adulthood. However, there is limited evidence on genetic factors associated with cognitive impairment in this population. METHODS: First, we used a latent profile analysis (LPA) approach to characterize neurocognitive function at age 10 for children born extremely preterm. Children were classified into two groups: (1) no or low cognitive impairment, and (2) moderate-to-severe cognitive impairment. Second, we performed TOPMed-based genotype imputation on samples with genotype array data (n = 528). Third, we then conducted a genome-wide association study (GWAS) for LPA-inferred cognitive impairment. Finally, computational analysis was conducted to explore potential mechanisms underlying the variant x LPA association. RESULTS: We identified two loci reaching genome-wide significance (p value < 5e-8): TEA domain transcription factor 4 (TEAD4 at rs11829294, p value = 2.40e-8) and syntaxin 18 (STX18 at rs79453226, p value = 1.91e-8). Integrative analysis with brain expression quantitative trait loci (eQTL), chromatin conformation, and epigenomic annotations suggests tetraspanin 9 (TSPAN9) and protein arginine methyltransferase 8 (PRMT8) as potential functional genes underlying the GWAS signal at the TEAD4 locus. CONCLUSIONS: We conducted a novel computational analysis by utilizing an LPA-inferred phenotype with genetics data for the first time. This study suggests that rs11829294 and its LD buddies have potential regulatory roles on genes that could impact neurocognitive impairment for extreme preterm born children. En ligne : https://dx.doi.org/10.1186/s11689-022-09429-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm [texte imprimé] / Weifang LIU, Auteur ; Quan SUN, Auteur ; Le HUANG, Auteur ; Arjun BHATTACHARYA, Auteur ; Geoffery W. WANG, Auteur ; Xianming TAN, Auteur ; Karl C.K. KUBAN, Auteur ; Robert M. JOSEPH, Auteur ; T. Michael O'SHEA, Auteur ; Rebecca C. FRY, Auteur ; Yun LI, Auteur ; Hudson P. Jr SANTOS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Brain  Child  Child, Preschool  Cognitive Dysfunction/genetics  DNA-Binding Proteins  Genome-Wide Association Study  Humans  Infant, Extremely Premature/psychology  Infant, Newborn  Muscle Proteins  Prospective Studies  TEA Domain Transcription Factors  Transcription Factors  Young Adult  Cognitive impairment  Genetic mechanisms  Genome-wide association study (GWAS)  Latent profile analysis (LPA)  Neurodevelopment  Preterm children Index. décimale : PER Périodiques Résumé : BACKGROUND: Although survival rates for infants born extremely preterm (gestation < 28 weeks) have improved significantly in recent decades, neurodevelopmental impairment remains a major concern. Children born extremely preterm remain at high risk for cognitive impairment from early childhood to adulthood. However, there is limited evidence on genetic factors associated with cognitive impairment in this population. METHODS: First, we used a latent profile analysis (LPA) approach to characterize neurocognitive function at age 10 for children born extremely preterm. Children were classified into two groups: (1) no or low cognitive impairment, and (2) moderate-to-severe cognitive impairment. Second, we performed TOPMed-based genotype imputation on samples with genotype array data (n = 528). Third, we then conducted a genome-wide association study (GWAS) for LPA-inferred cognitive impairment. Finally, computational analysis was conducted to explore potential mechanisms underlying the variant x LPA association. RESULTS: We identified two loci reaching genome-wide significance (p value < 5e-8): TEA domain transcription factor 4 (TEAD4 at rs11829294, p value = 2.40e-8) and syntaxin 18 (STX18 at rs79453226, p value = 1.91e-8). Integrative analysis with brain expression quantitative trait loci (eQTL), chromatin conformation, and epigenomic annotations suggests tetraspanin 9 (TSPAN9) and protein arginine methyltransferase 8 (PRMT8) as potential functional genes underlying the GWAS signal at the TEAD4 locus. CONCLUSIONS: We conducted a novel computational analysis by utilizing an LPA-inferred phenotype with genetics data for the first time. This study suggests that rs11829294 and its LD buddies have potential regulatory roles on genes that could impact neurocognitive impairment for extreme preterm born children. En ligne : https://dx.doi.org/10.1186/s11689-022-09429-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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