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Autistic Traits Mediate Reductions in Social Attention in Adults with Anorexia Nervosa / J. KERR-GAFFNEY in Journal of Autism and Developmental Disorders, 51-6 (June 2021)
[article]
Titre : Autistic Traits Mediate Reductions in Social Attention in Adults with Anorexia Nervosa Type de document : Texte imprimé et/ou numérique Auteurs : J. KERR-GAFFNEY, Auteur ; L. MASON, Auteur ; E. JONES, Auteur ; H. HAYWARD, Auteur ; A. HARRISON, Auteur ; D. MURPHY, Auteur ; K. TCHANTURIA, Auteur Article en page(s) : p.2077-2090 Langues : Anglais (eng) Mots-clés : Adult Affective Symptoms/psychology Anorexia Nervosa/psychology Anxiety/psychology Attention Autistic Disorder/psychology Depression/psychology Emotions Eye Movements Facial Recognition Female Humans Male Self Report Time Factors Young Adult Anorexia nervosa Autism spectrum disorder Comorbidity Eye-tracking Social attention Index. décimale : PER Périodiques Résumé : Anorexia nervosa (AN) is associated with difficulties in social and emotional functioning. A significant proportion of individuals with AN show autistic traits, which may influence social attention. This study examined attention to faces and facial features in AN, recovered AN (REC), and healthy controls, as well as relationships with comorbid psychopathology. One hundred and forty-eight participants' eye movements were tracked while watching a naturalistic social scene. Anxiety, depression, alexithymia, and autistic traits were assessed via self-report questionnaires. Participants with AN spent significantly less time looking at faces compared to REC and controls; patterns of attention to individual facial features did not differ across groups. Autistic traits mediated the relationship between group and time spent looking at faces. En ligne : http://dx.doi.org/10.1007/s10803-020-04686-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2077-2090[article] Autistic Traits Mediate Reductions in Social Attention in Adults with Anorexia Nervosa [Texte imprimé et/ou numérique] / J. KERR-GAFFNEY, Auteur ; L. MASON, Auteur ; E. JONES, Auteur ; H. HAYWARD, Auteur ; A. HARRISON, Auteur ; D. MURPHY, Auteur ; K. TCHANTURIA, Auteur . - p.2077-2090.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2077-2090
Mots-clés : Adult Affective Symptoms/psychology Anorexia Nervosa/psychology Anxiety/psychology Attention Autistic Disorder/psychology Depression/psychology Emotions Eye Movements Facial Recognition Female Humans Male Self Report Time Factors Young Adult Anorexia nervosa Autism spectrum disorder Comorbidity Eye-tracking Social attention Index. décimale : PER Périodiques Résumé : Anorexia nervosa (AN) is associated with difficulties in social and emotional functioning. A significant proportion of individuals with AN show autistic traits, which may influence social attention. This study examined attention to faces and facial features in AN, recovered AN (REC), and healthy controls, as well as relationships with comorbid psychopathology. One hundred and forty-eight participants' eye movements were tracked while watching a naturalistic social scene. Anxiety, depression, alexithymia, and autistic traits were assessed via self-report questionnaires. Participants with AN spent significantly less time looking at faces compared to REC and controls; patterns of attention to individual facial features did not differ across groups. Autistic traits mediated the relationship between group and time spent looking at faces. En ligne : http://dx.doi.org/10.1007/s10803-020-04686-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons / Y. ZHOU in Molecular Autism, 7 (2016)
[article]
Titre : CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons Type de document : Texte imprimé et/ou numérique Auteurs : Y. ZHOU, Auteur ; D. KUMARI, Auteur ; N. SCIASCIA, Auteur ; K. USDIN, Auteur Article en page(s) : 42p. Langues : Anglais (eng) Mots-clés : 5' Untranslated Regions Alleles Cell Differentiation Cell Line DNA Methylation Embryonic Stem Cells/metabolism/pathology Fragile X Mental Retardation Protein/genetics/metabolism Fragile X Syndrome/genetics/metabolism/pathology Gene Silencing Humans Induced Pluripotent Stem Cells/metabolism/pathology Male Neurons/metabolism/pathology Primary Cell Culture Time Factors Trinucleotide Repeat Expansion Fragile X syndrome Repeat contractions Repeat expansion mutation Repeat-mediated gene silencing Stem cells Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from the expansion of a CGG-repeat tract in the 5' untranslated region of the FMR1 gene to >200 repeats. Such expanded alleles, known as full mutation (FM) alleles, are epigenetically silenced in differentiated cells thus resulting in the loss of FMRP, a protein important for learning and memory. The timing of repeat expansion and FMR1 gene silencing is controversial. METHODS: We monitored the repeat size and methylation status of FMR1 alleles with expanded CGG repeats in patient-derived induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs) that were grown for extended period of time either as stem cells or differentiated into neurons. We used a PCR assay optimized for the amplification of large CGG repeats for sizing, and a quantitative methylation-specific PCR for the analysis of FMR1 promoter methylation. The FMR1 mRNA levels were analyzed by qRT-PCR. FMRP levels were determined by western blotting and immunofluorescence. Chromatin immunoprecipitation was used to study the association of repressive histone marks with the FMR1 gene in FXS ESCs. RESULTS: We show here that while FMR1 gene silencing can be seen in FXS embryonic stem cells (ESCs), some silenced alleles contract and when the repeat number drops below ~400, DNA methylation erodes, even when the repeat number remains >200. The resultant active alleles do not show the large step-wise expansions seen in stem cells from other repeat expansion diseases. Furthermore, there may be selection against large active alleles and these alleles do not expand further or become silenced on neuronal differentiation. CONCLUSIONS: Our data support the hypotheses that (i) large expansions occur prezygotically or in the very early embryo, (ii) large unmethylated alleles may be deleterious in stem cells, (iii) methylation can occur on alleles with >400 repeats very early in embryogenesis, and (iv) expansion and contraction may occur by different mechanisms. Our data also suggest that the threshold for stable methylation of FM alleles may be higher than previously thought. A higher threshold might explain why some carriers of FM alleles escape methylation. It may also provide a simple explanation for why silencing has not been observed in mouse models with >200 repeats. En ligne : http://dx.doi.org/10.1186/s13229-016-0105-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329
in Molecular Autism > 7 (2016) . - 42p.[article] CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons [Texte imprimé et/ou numérique] / Y. ZHOU, Auteur ; D. KUMARI, Auteur ; N. SCIASCIA, Auteur ; K. USDIN, Auteur . - 42p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 42p.
Mots-clés : 5' Untranslated Regions Alleles Cell Differentiation Cell Line DNA Methylation Embryonic Stem Cells/metabolism/pathology Fragile X Mental Retardation Protein/genetics/metabolism Fragile X Syndrome/genetics/metabolism/pathology Gene Silencing Humans Induced Pluripotent Stem Cells/metabolism/pathology Male Neurons/metabolism/pathology Primary Cell Culture Time Factors Trinucleotide Repeat Expansion Fragile X syndrome Repeat contractions Repeat expansion mutation Repeat-mediated gene silencing Stem cells Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from the expansion of a CGG-repeat tract in the 5' untranslated region of the FMR1 gene to >200 repeats. Such expanded alleles, known as full mutation (FM) alleles, are epigenetically silenced in differentiated cells thus resulting in the loss of FMRP, a protein important for learning and memory. The timing of repeat expansion and FMR1 gene silencing is controversial. METHODS: We monitored the repeat size and methylation status of FMR1 alleles with expanded CGG repeats in patient-derived induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs) that were grown for extended period of time either as stem cells or differentiated into neurons. We used a PCR assay optimized for the amplification of large CGG repeats for sizing, and a quantitative methylation-specific PCR for the analysis of FMR1 promoter methylation. The FMR1 mRNA levels were analyzed by qRT-PCR. FMRP levels were determined by western blotting and immunofluorescence. Chromatin immunoprecipitation was used to study the association of repressive histone marks with the FMR1 gene in FXS ESCs. RESULTS: We show here that while FMR1 gene silencing can be seen in FXS embryonic stem cells (ESCs), some silenced alleles contract and when the repeat number drops below ~400, DNA methylation erodes, even when the repeat number remains >200. The resultant active alleles do not show the large step-wise expansions seen in stem cells from other repeat expansion diseases. Furthermore, there may be selection against large active alleles and these alleles do not expand further or become silenced on neuronal differentiation. CONCLUSIONS: Our data support the hypotheses that (i) large expansions occur prezygotically or in the very early embryo, (ii) large unmethylated alleles may be deleterious in stem cells, (iii) methylation can occur on alleles with >400 repeats very early in embryogenesis, and (iv) expansion and contraction may occur by different mechanisms. Our data also suggest that the threshold for stable methylation of FM alleles may be higher than previously thought. A higher threshold might explain why some carriers of FM alleles escape methylation. It may also provide a simple explanation for why silencing has not been observed in mouse models with >200 repeats. En ligne : http://dx.doi.org/10.1186/s13229-016-0105-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 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)
[article]
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
in Molecular Autism > 7 (2016) . - 19p.[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 Trends Over a Decade in NIH Funding for Autism Spectrum Disorder Services Research / Paige E. CERVANTES in Journal of Autism and Developmental Disorders, 51-8 (August 2021)
[article]
Titre : Trends Over a Decade in NIH Funding for Autism Spectrum Disorder Services Research Type de document : Texte imprimé et/ou numérique Auteurs : Paige E. CERVANTES, Auteur ; M. MATHEIS, Auteur ; J. ESTABILLO, Auteur ; Dana E. M. SEAG, Auteur ; K. L. NELSON, Auteur ; R. PETH-PIERCE, Auteur ; K. E. HOAGWOOD, Auteur ; S. M. HORWITZ, Auteur Article en page(s) : p.2751-2763 Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder/economics/epidemiology/therapy Biomedical Research/economics/trends Child Child, Preschool Data Analysis Female Financial Management/economics/trends Humans Male National Institutes of Health (U.S.)/economics/trends Time Factors United States/epidemiology ASD policy ASD services research Autism spectrum disorder Community Mental Health Services Dissemination and implementation National Institutes of Health (U.S.) they have no conflict of interest. Index. décimale : PER Périodiques Résumé : Investments in autism spectrum disorder (ASD) research, guided by the Interagency Autism Coordinating Committee (IACC), have focused disproportionately on etiology over a well-established stakeholder priority area: research to improve accessibility and quality of community-based services. This study analyzed National Institutes of Health ASD services research funding from 2008 to 2018 to examine funding patterns, evaluate the impact of IACC objectives, and identify future directions. Approximately 9% of total funds were allocated to services research. This investment remained relatively stable across time and lacked diversity across domains (e.g., area of focus, ages sampled, implementation strategies used). While advancements were observed, including increased prevalence of projects focused on adult samples and on dissemination/implementation and prevention areas, greater investment in service research is critically needed. En ligne : http://dx.doi.org/10.1007/s10803-020-04746-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453
in Journal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2751-2763[article] Trends Over a Decade in NIH Funding for Autism Spectrum Disorder Services Research [Texte imprimé et/ou numérique] / Paige E. CERVANTES, Auteur ; M. MATHEIS, Auteur ; J. ESTABILLO, Auteur ; Dana E. M. SEAG, Auteur ; K. L. NELSON, Auteur ; R. PETH-PIERCE, Auteur ; K. E. HOAGWOOD, Auteur ; S. M. HORWITZ, Auteur . - p.2751-2763.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2751-2763
Mots-clés : Adolescent Autism Spectrum Disorder/economics/epidemiology/therapy Biomedical Research/economics/trends Child Child, Preschool Data Analysis Female Financial Management/economics/trends Humans Male National Institutes of Health (U.S.)/economics/trends Time Factors United States/epidemiology ASD policy ASD services research Autism spectrum disorder Community Mental Health Services Dissemination and implementation National Institutes of Health (U.S.) they have no conflict of interest. Index. décimale : PER Périodiques Résumé : Investments in autism spectrum disorder (ASD) research, guided by the Interagency Autism Coordinating Committee (IACC), have focused disproportionately on etiology over a well-established stakeholder priority area: research to improve accessibility and quality of community-based services. This study analyzed National Institutes of Health ASD services research funding from 2008 to 2018 to examine funding patterns, evaluate the impact of IACC objectives, and identify future directions. Approximately 9% of total funds were allocated to services research. This investment remained relatively stable across time and lacked diversity across domains (e.g., area of focus, ages sampled, implementation strategies used). While advancements were observed, including increased prevalence of projects focused on adult samples and on dissemination/implementation and prevention areas, greater investment in service research is critically needed. En ligne : http://dx.doi.org/10.1007/s10803-020-04746-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453