Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons / M. JUNG in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 20p. Titre : Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons Type de document : Texte imprimé et/ou numérique Auteurs : M. JUNG, Auteur ; B. M. HABERLE, Auteur ; T. TSCHAIKOWSKY, Auteur ; M. T. WITTMANN, Auteur ; E. A. BALTA, Auteur ; V. C. STADLER, Auteur ; C. ZWEIER, Auteur ; A. DORFLER, Auteur ; C. J. GLOECKNER, Auteur ; D. C. LIE, Auteur Article en page(s) : 20p. Langues : Anglais (eng) Mots-clés : Neurodevelopment  Pitt-Hopkins syndrome  Schizophrenia  TCF4 Index. décimale : PER Périodiques Résumé : Background: Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the TCF4 gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function. Methods: We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain. We used immunofluorescent staining to identify candidate regions whose development and function depend on TCF4. In addition, we determined TCF4 expression in the developing rhesus monkey brain and in the developing and adult human brain through analysis of transcriptomic datasets and compared the expression pattern between species. Finally, we morphometrically and histologically analyzed selected brain structures in Tcf4-haploinsufficient mice and compared our morphometric findings to neuroanatomical findings in PTHS patients. Results: TCF4 is broadly expressed in cortical and subcortical structures in the developing and adult mouse brain. The TCF4 expression pattern was highly similar between humans, rhesus monkeys, and mice. Moreover, Tcf4 haploinsufficiency in mice replicated structural brain anomalies observed in PTHS patients. Conclusion: Our data suggests that TCF4 is involved in the development and function of multiple brain regions and indicates that its regulation is evolutionary conserved. Moreover, our data validate Tcf4-haploinsufficient mice as a model to study the neurodevelopmental basis of PTHS. En ligne : http://dx.doi.org/10.1186/s13229-018-0200-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354 [article] Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons [Texte imprimé et/ou numérique] / M. JUNG, Auteur ; B. M. HABERLE, Auteur ; T. TSCHAIKOWSKY, Auteur ; M. T. WITTMANN, Auteur ; E. A. BALTA, Auteur ; V. C. STADLER, Auteur ; C. ZWEIER, Auteur ; A. DORFLER, Auteur ; C. J. GLOECKNER, Auteur ; D. C. LIE, Auteur . - 20p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 20p. Mots-clés : Neurodevelopment  Pitt-Hopkins syndrome  Schizophrenia  TCF4 Index. décimale : PER Périodiques Résumé : Background: Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the TCF4 gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function. Methods: We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain. We used immunofluorescent staining to identify candidate regions whose development and function depend on TCF4. In addition, we determined TCF4 expression in the developing rhesus monkey brain and in the developing and adult human brain through analysis of transcriptomic datasets and compared the expression pattern between species. Finally, we morphometrically and histologically analyzed selected brain structures in Tcf4-haploinsufficient mice and compared our morphometric findings to neuroanatomical findings in PTHS patients. Results: TCF4 is broadly expressed in cortical and subcortical structures in the developing and adult mouse brain. The TCF4 expression pattern was highly similar between humans, rhesus monkeys, and mice. Moreover, Tcf4 haploinsufficiency in mice replicated structural brain anomalies observed in PTHS patients. Conclusion: Our data suggests that TCF4 is involved in the development and function of multiple brain regions and indicates that its regulation is evolutionary conserved. Moreover, our data validate Tcf4-haploinsufficient mice as a model to study the neurodevelopmental basis of PTHS. En ligne : http://dx.doi.org/10.1186/s13229-018-0200-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354

Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder / B. WAN in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1057-1068 Titre : Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : B. WAN, Auteur ; Z. WANG, Auteur ; M. JUNG, Auteur ; Y. LU, Auteur ; H. HE, Auteur ; Q. CHEN, Auteur ; Y. JIN, Auteur Année de publication : 2019 Article en page(s) : p.1057-1068 Langues : Anglais (eng) Mots-clés : Adhd  anxiety  autism spectrum disorder  functional degree centrality Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) present with a high co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD). However, it remains unclear how the co-occurrence of anxiety and ADHD in children with ASD alters whole-brain functional networks. Here, we aimed to examine anxiety- and ADHD-related brain network centrality in children with ASD separately and their relationships with ASD symptoms. Clinical anxiety and ADHD levels in children with ASD, aged 6-13 years old, were assessed. Participants were categorized into four groups: ASD only (n = 28), ASD + anxiety (n = 19), ASD + ADHD (n = 25), and ASD + both anxiety and ADHD (n = 28). Subsequently, we compared voxel-wise network degree centrality (DC) among the four groups. We found that: (a) compared with ASD only, children with ASD + anxiety showed higher DC in the left middle temporal gyrus, right lingual gyrus, and left cuneus, and lower DC in the right precuneus; (b) children with ASD + ADHD presented higher DC in the right calcarine and left superior frontal gyrus (SFG) compared with ASD only; (c) children with ASD + both displayed higher DC in the right calcarine and lower centrality in the right middle occipital gyrus compared with ASD only; and (d) across all children with ASD, there was a positive correlation between DC of the right calcarine with nonverbal behavior scores, and DC of the left SFG was negatively correlated with social scores. Our findings suggest that the right calcarine, left SFG, and default mode network nodes play important roles in the co-occurrence of anxiety and ADHD among children with ASD. Autism Res 2019, 12: 1057-1068. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD) has been shown to influence the brain function of children with ASD. In order to gain a better understanding of this, the present study compared degree centrality, the amount of effective brain functional connectivity that reflects the characteristics of brain networks, among four groups: ASD only, ASD + anxiety, ASD + ADHD, and ASD + both anxiety and ADHD. We found that some areas located in the language processing network and primary visual cortex were associated with the co-occurrence of ADHD, and some other areas located in the default mode network were associated with the co-occurrence of both anxiety and ADHD. These findings provide more knowledge about the neural basis underlying behavioral changes related to the co-occurrence of anxiety and ADHD in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2120 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / B. WAN, Auteur ; Z. WANG, Auteur ; M. JUNG, Auteur ; Y. LU, Auteur ; H. HE, Auteur ; Q. CHEN, Auteur ; Y. JIN, Auteur . - 2019 . - p.1057-1068. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1057-1068 Mots-clés : Adhd  anxiety  autism spectrum disorder  functional degree centrality Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) present with a high co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD). However, it remains unclear how the co-occurrence of anxiety and ADHD in children with ASD alters whole-brain functional networks. Here, we aimed to examine anxiety- and ADHD-related brain network centrality in children with ASD separately and their relationships with ASD symptoms. Clinical anxiety and ADHD levels in children with ASD, aged 6-13 years old, were assessed. Participants were categorized into four groups: ASD only (n = 28), ASD + anxiety (n = 19), ASD + ADHD (n = 25), and ASD + both anxiety and ADHD (n = 28). Subsequently, we compared voxel-wise network degree centrality (DC) among the four groups. We found that: (a) compared with ASD only, children with ASD + anxiety showed higher DC in the left middle temporal gyrus, right lingual gyrus, and left cuneus, and lower DC in the right precuneus; (b) children with ASD + ADHD presented higher DC in the right calcarine and left superior frontal gyrus (SFG) compared with ASD only; (c) children with ASD + both displayed higher DC in the right calcarine and lower centrality in the right middle occipital gyrus compared with ASD only; and (d) across all children with ASD, there was a positive correlation between DC of the right calcarine with nonverbal behavior scores, and DC of the left SFG was negatively correlated with social scores. Our findings suggest that the right calcarine, left SFG, and default mode network nodes play important roles in the co-occurrence of anxiety and ADHD among children with ASD. Autism Res 2019, 12: 1057-1068. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD) has been shown to influence the brain function of children with ASD. In order to gain a better understanding of this, the present study compared degree centrality, the amount of effective brain functional connectivity that reflects the characteristics of brain networks, among four groups: ASD only, ASD + anxiety, ASD + ADHD, and ASD + both anxiety and ADHD. We found that some areas located in the language processing network and primary visual cortex were associated with the co-occurrence of ADHD, and some other areas located in the default mode network were associated with the co-occurrence of both anxiety and ADHD. These findings provide more knowledge about the neural basis underlying behavioral changes related to the co-occurrence of anxiety and ADHD in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2120 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults / T. FUJIOKA in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 19p. Titre : Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults Type de document : Texte imprimé et/ou numérique Auteurs : T. FUJIOKA, Auteur ; K. INOHARA, Auteur ; Y. OKAMOTO, Auteur ; Y. MASUYA, Auteur ; M. ISHITOBI, Auteur ; Daisuke N. SAITO, Auteur ; M. JUNG, Auteur ; Sumiyoshi ARAI, Auteur ; Y. MATSUMURA, Auteur ; T. X. FUJISAWA, Auteur ; K. NARITA, Auteur ; K. SUZUKI, Auteur ; K. J. TSUCHIYA, Auteur ; N. MORI, Auteur ; T. KATAYAMA, Auteur ; M. SATO, Auteur ; T. MUNESUE, Auteur ; H. OKAZAWA, Auteur ; A. TOMODA, Auteur ; Y. WADA, Auteur ; H. KOSAKA, Auteur Article en page(s) : 19p. Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Area Under Curve  Autism Spectrum Disorder/diagnosis/physiopathology  Case-Control Studies  Discriminant Analysis  Fixation, Ocular/physiology  Humans  Male  Ocular Physiological Phenomena  Photic Stimulation  Psychometrics  ROC Curve  Social Behavior  Time Factors  Autism spectrum disorder  Biological motion  Eye-tracking  Face  Fixation  Gaze abnormality  Geometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Gaze abnormality is a diagnostic criterion for autism spectrum disorder (ASD). However, few easy-to-use clinical tools exist to evaluate the unique eye-gaze patterns of ASD. Recently, we developed Gazefinder, an all-in-one eye-tracking system for early detection of ASD in toddlers. Because abnormal gaze patterns have been documented in various ASD age groups, we predicted that Gazefinder might also detect gaze abnormality in adolescents and adults. In this study, we tested whether Gazefinder could identify unique gaze patterns in adolescents and adults with ASD. METHODS: We measured the percentage of eye fixation time allocated to particular objects depicted in movies (i.e., eyes and mouth in human face movies, upright and inverted biological motion in movies that presented these stimuli simultaneously, and people and geometry in movies that presented these stimuli simultaneously) by male adolescents and adults with ASD (N = 26) and age-matched males with typical development (TD; N = 35). We compared these percentages between the two groups (ASD and TD) and with scores on the social responsiveness scale (SRS). Further, we conducted discriminant analyses to determine if fixation times allocated to particular objects could be used to discriminate between individuals with and without ASD. RESULTS: Compared with the TD group, the ASD group showed significantly less fixation time at locations of salient social information (i.e., eyes in the movie of human faces without lip movement and people in the movie of people and geometry), while there were no significant groupwise differences in the responses to movies of human faces with lip movement or biological motion. In a within-group correlation analysis, a few of the fixation-time items correlated with SRS, although most of them did not. No items significantly correlated with SRS in both ASD and TD groups. The percentage fixation times to eyes and people, which exhibited large effect sizes for the group difference, could differentiate ASD and TD with a sensitivity of 81.0% and a specificity of 80.0%. CONCLUSIONS: These findings suggest that Gazefinder is potentially a valuable and easy-to-use tool for objectively measuring unique gaze patterns and discriminating between ASD and TD in male adolescents and adults. En ligne : http://dx.doi.org/10.1186/s13229-016-0083-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 [article] Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults [Texte imprimé et/ou numérique] / T. FUJIOKA, Auteur ; K. INOHARA, Auteur ; Y. OKAMOTO, Auteur ; Y. MASUYA, Auteur ; M. ISHITOBI, Auteur ; Daisuke N. SAITO, Auteur ; M. JUNG, Auteur ; Sumiyoshi ARAI, Auteur ; Y. MATSUMURA, Auteur ; T. X. FUJISAWA, Auteur ; K. NARITA, Auteur ; K. SUZUKI, Auteur ; K. J. TSUCHIYA, Auteur ; N. MORI, Auteur ; T. KATAYAMA, Auteur ; M. SATO, Auteur ; T. MUNESUE, Auteur ; H. OKAZAWA, Auteur ; A. TOMODA, Auteur ; Y. WADA, Auteur ; H. KOSAKA, Auteur . - 19p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 19p. Mots-clés : Adolescent  Adult  Area Under Curve  Autism Spectrum Disorder/diagnosis/physiopathology  Case-Control Studies  Discriminant Analysis  Fixation, Ocular/physiology  Humans  Male  Ocular Physiological Phenomena  Photic Stimulation  Psychometrics  ROC Curve  Social Behavior  Time Factors  Autism spectrum disorder  Biological motion  Eye-tracking  Face  Fixation  Gaze abnormality  Geometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Gaze abnormality is a diagnostic criterion for autism spectrum disorder (ASD). However, few easy-to-use clinical tools exist to evaluate the unique eye-gaze patterns of ASD. Recently, we developed Gazefinder, an all-in-one eye-tracking system for early detection of ASD in toddlers. Because abnormal gaze patterns have been documented in various ASD age groups, we predicted that Gazefinder might also detect gaze abnormality in adolescents and adults. In this study, we tested whether Gazefinder could identify unique gaze patterns in adolescents and adults with ASD. METHODS: We measured the percentage of eye fixation time allocated to particular objects depicted in movies (i.e., eyes and mouth in human face movies, upright and inverted biological motion in movies that presented these stimuli simultaneously, and people and geometry in movies that presented these stimuli simultaneously) by male adolescents and adults with ASD (N = 26) and age-matched males with typical development (TD; N = 35). We compared these percentages between the two groups (ASD and TD) and with scores on the social responsiveness scale (SRS). Further, we conducted discriminant analyses to determine if fixation times allocated to particular objects could be used to discriminate between individuals with and without ASD. RESULTS: Compared with the TD group, the ASD group showed significantly less fixation time at locations of salient social information (i.e., eyes in the movie of human faces without lip movement and people in the movie of people and geometry), while there were no significant groupwise differences in the responses to movies of human faces with lip movement or biological motion. In a within-group correlation analysis, a few of the fixation-time items correlated with SRS, although most of them did not. No items significantly correlated with SRS in both ASD and TD groups. The percentage fixation times to eyes and people, which exhibited large effect sizes for the group difference, could differentiate ASD and TD with a sensitivity of 81.0% and a specificity of 80.0%. CONCLUSIONS: These findings suggest that Gazefinder is potentially a valuable and easy-to-use tool for objectively measuring unique gaze patterns and discriminating between ASD and TD in male adolescents and adults. En ligne : http://dx.doi.org/10.1186/s13229-016-0083-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328

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