Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020) / Meng-Chuan LAI in Journal of Child Psychology and Psychiatry, 62-8 (August 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-8 (August 2021) Titre : Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020) Type de document : Texte imprimé et/ou numérique Auteurs : Meng-Chuan LAI, Auteur ; L. HULL, Auteur ; W. MANDY, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Christine W. NORDAHL, Auteur ; M. V. LOMBARDO, Auteur ; Stephanie H. AMEIS, Auteur ; P. SZATMARI, Auteur ; Simon BARON-COHEN, Auteur ; Francesca HAPPE, Auteur ; L. A. LIVINGSTON, Auteur Langues : Anglais (eng) Mots-clés : Adaptation, Psychological  Adult  Autistic Disorder  Female  Humans Index. décimale : PER Périodiques Résumé : Fombonne's (2020) editorial is a thought-provoking appraisal of the literature on 'camouflaging', whereby some autistic people mask or compensate for their autistic characteristics as an attempt to fit in and to cope with disabilities under neurotypical social norms. Fombonne (2020) highlights three issues of contention: (a) construct validity and measurement of camouflaging; (b) camouflaging as a reason for late autism diagnosis in adolescence/adulthood; and (c) camouflaging as a feature of the 'female autism phenotype'. Here, we argue that (a) establishing construct validity and measurement of different aspects of camouflaging is warranted; (b) subjective experiences are important for the differential diagnosis of autism in adolescence/adulthood; and (c) camouflaging is not necessarily a feature of autism in female individuals - nevertheless, taking into account sex and gender influences in development is crucial to understand behavioural manifestations of autism. Future research and clinical directions should involve clarification of associated constructs and measurements, demography, mechanisms, impact (including harms and benefits) and tailored support. En ligne : http://dx.doi.org/10.1111/jcpp.13344 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020) [Texte imprimé et/ou numérique] / Meng-Chuan LAI, Auteur ; L. HULL, Auteur ; W. MANDY, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Christine W. NORDAHL, Auteur ; M. V. LOMBARDO, Auteur ; Stephanie H. AMEIS, Auteur ; P. SZATMARI, Auteur ; Simon BARON-COHEN, Auteur ; Francesca HAPPE, Auteur ; L. A. LIVINGSTON, Auteur. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-8 (August 2021) Mots-clés : Adaptation, Psychological  Adult  Autistic Disorder  Female  Humans Index. décimale : PER Périodiques Résumé : Fombonne's (2020) editorial is a thought-provoking appraisal of the literature on 'camouflaging', whereby some autistic people mask or compensate for their autistic characteristics as an attempt to fit in and to cope with disabilities under neurotypical social norms. Fombonne (2020) highlights three issues of contention: (a) construct validity and measurement of camouflaging; (b) camouflaging as a reason for late autism diagnosis in adolescence/adulthood; and (c) camouflaging as a feature of the 'female autism phenotype'. Here, we argue that (a) establishing construct validity and measurement of different aspects of camouflaging is warranted; (b) subjective experiences are important for the differential diagnosis of autism in adolescence/adulthood; and (c) camouflaging is not necessarily a feature of autism in female individuals - nevertheless, taking into account sex and gender influences in development is crucial to understand behavioural manifestations of autism. Future research and clinical directions should involve clarification of associated constructs and measurements, demography, mechanisms, impact (including harms and benefits) and tailored support. En ligne : http://dx.doi.org/10.1111/jcpp.13344 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Hierarchical cortical transcriptome disorganization in autism / M. V. LOMBARDO in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 29p. Titre : Hierarchical cortical transcriptome disorganization in autism Type de document : Texte imprimé et/ou numérique Auteurs : M. V. LOMBARDO, Auteur ; E. COURCHESNE, Auteur ; N. E. LEWIS, Auteur ; T. PRAMPARO, Auteur Article en page(s) : 29p. Langues : Anglais (eng) Mots-clés : Autism  Gene co-expression networks  Immune  Synapse  Systems biology  Transcriptome  Translation Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA damage, WNT signaling, cortical patterning and differentiation) potentially involved in ASD brain abnormalities during childhood and adulthood. However, it remains unclear whether such diverse dysregulated pathways are independent of each other or instead reflect coordinated hierarchical systems-level pathology. METHODS: Two ASD cortical transcriptome datasets were re-analyzed using consensus weighted gene co-expression network analysis (WGCNA) to identify common co-expression modules across datasets. Linear mixed-effect models and Bayesian replication statistics were used to identify replicable differentially expressed modules. Eigengene network analysis was then utilized to identify between-group differences in how co-expression modules interact and cluster into hierarchical meta-modular organization. Protein-protein interaction analyses were also used to determine whether dysregulated co-expression modules show enhanced interactions. RESULTS: We find replicable evidence for 10 gene co-expression modules that are differentially expressed in ASD cortex. Rather than being independent non-interacting sources of pathology, these dysregulated co-expression modules work in synergy and physically interact at the protein level. These systems-level transcriptional signals are characterized by downregulation of synaptic processes coordinated with upregulation of immune/inflammation, response to other organism, catabolism, viral processes, translation, protein targeting and localization, cell proliferation, and vasculature development. Hierarchical organization of meta-modules (clusters of highly correlated modules) is also highly affected in ASD. CONCLUSIONS: These findings highlight that dysregulation of the ASD cortical transcriptome is characterized by the dysregulation of multiple coordinated transcriptional programs producing synergistic systems-level effects that cannot be fully appreciated by studying the individual component biological processes in isolation. En ligne : http://dx.doi.org/10.1186/s13229-017-0147-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Hierarchical cortical transcriptome disorganization in autism [Texte imprimé et/ou numérique] / M. V. LOMBARDO, Auteur ; E. COURCHESNE, Auteur ; N. E. LEWIS, Auteur ; T. PRAMPARO, Auteur . - 29p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 29p. Mots-clés : Autism  Gene co-expression networks  Immune  Synapse  Systems biology  Transcriptome  Translation Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA damage, WNT signaling, cortical patterning and differentiation) potentially involved in ASD brain abnormalities during childhood and adulthood. However, it remains unclear whether such diverse dysregulated pathways are independent of each other or instead reflect coordinated hierarchical systems-level pathology. METHODS: Two ASD cortical transcriptome datasets were re-analyzed using consensus weighted gene co-expression network analysis (WGCNA) to identify common co-expression modules across datasets. Linear mixed-effect models and Bayesian replication statistics were used to identify replicable differentially expressed modules. Eigengene network analysis was then utilized to identify between-group differences in how co-expression modules interact and cluster into hierarchical meta-modular organization. Protein-protein interaction analyses were also used to determine whether dysregulated co-expression modules show enhanced interactions. RESULTS: We find replicable evidence for 10 gene co-expression modules that are differentially expressed in ASD cortex. Rather than being independent non-interacting sources of pathology, these dysregulated co-expression modules work in synergy and physically interact at the protein level. These systems-level transcriptional signals are characterized by downregulation of synaptic processes coordinated with upregulation of immune/inflammation, response to other organism, catabolism, viral processes, translation, protein targeting and localization, cell proliferation, and vasculature development. Hierarchical organization of meta-modules (clusters of highly correlated modules) is also highly affected in ASD. CONCLUSIONS: These findings highlight that dysregulation of the ASD cortical transcriptome is characterized by the dysregulation of multiple coordinated transcriptional programs producing synergistic systems-level effects that cannot be fully appreciated by studying the individual component biological processes in isolation. En ligne : http://dx.doi.org/10.1186/s13229-017-0147-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

Medical symptoms and conditions in autistic women / T. SIMANTOV in Autism, 26-2 (February 2022)  

Public ISBD [article]  inAutism > 26-2 (February 2022) . - p.373-388 Titre : Medical symptoms and conditions in autistic women Type de document : Texte imprimé et/ou numérique Auteurs : T. SIMANTOV, Auteur ; A. POHL, Auteur ; A. TSOMPANIDIS, Auteur ; E. WEIR, Auteur ; M. V. LOMBARDO, Auteur ; A. RUIGROK, Auteur ; P. SMITH, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; F. UZEFOVSKY, Auteur Article en page(s) : p.373-388 Langues : Anglais (eng) Mots-clés : autism  clinical  females  puberty  steroids  testosterone Index. décimale : PER Périodiques Résumé : Sex-steroids, such as testosterone, are thought to be one of the biological factors implicated in autism. This relies on the sex bias in the diagnosis of autism (boys are approximately four times more likely to be diagnosed than girls) and findings of associations with fetal testosterone levels in traits and abilities related to autism. The current study aimed to examine the association between medical conditions and physical symptoms, which tend to manifest in adulthood, and autism in females. Moreover, we examined their association with autistic traits throughout the spectrum. We focused on autistic women because there is little research focusing on the healthcare needs of autistic women, but those that exist suggest heightened vulnerability, and lower access to medical care. We find that conditions related to steroid hormones function are more frequent in autistic women and that they correlate with autistic traits. Specifically, we found that body mass index, reproductive system diagnoses, prediabetes symptoms, irregular puberty onset, and menstrual irregularities were significantly more frequent in autistic women and were significantly correlated with autistic traits in neurotypical women. The findings have important implications for raising awareness in autistic women of the possibility of medical conditions which might need medical attention. In addition, healthcare providers should consider these associations when performing healthcare maintenance checks and/or screening for autism. En ligne : http://dx.doi.org/10.1177/13623613211022091 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Medical symptoms and conditions in autistic women [Texte imprimé et/ou numérique] / T. SIMANTOV, Auteur ; A. POHL, Auteur ; A. TSOMPANIDIS, Auteur ; E. WEIR, Auteur ; M. V. LOMBARDO, Auteur ; A. RUIGROK, Auteur ; P. SMITH, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; F. UZEFOVSKY, Auteur . - p.373-388. Langues : Anglais (eng) in Autism > 26-2 (February 2022) . - p.373-388 Mots-clés : autism  clinical  females  puberty  steroids  testosterone Index. décimale : PER Périodiques Résumé : Sex-steroids, such as testosterone, are thought to be one of the biological factors implicated in autism. This relies on the sex bias in the diagnosis of autism (boys are approximately four times more likely to be diagnosed than girls) and findings of associations with fetal testosterone levels in traits and abilities related to autism. The current study aimed to examine the association between medical conditions and physical symptoms, which tend to manifest in adulthood, and autism in females. Moreover, we examined their association with autistic traits throughout the spectrum. We focused on autistic women because there is little research focusing on the healthcare needs of autistic women, but those that exist suggest heightened vulnerability, and lower access to medical care. We find that conditions related to steroid hormones function are more frequent in autistic women and that they correlate with autistic traits. Specifically, we found that body mass index, reproductive system diagnoses, prediabetes symptoms, irregular puberty onset, and menstrual irregularities were significantly more frequent in autistic women and were significantly correlated with autistic traits in neurotypical women. The findings have important implications for raising awareness in autistic women of the possibility of medical conditions which might need medical attention. In addition, healthcare providers should consider these associations when performing healthcare maintenance checks and/or screening for autism. En ligne : http://dx.doi.org/10.1177/13623613211022091 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

Neural self-representation in autistic women and association with 'compensatory camouflaging' / Meng-Chuan LAI in Autism, 23-5 (July 2019)  

Public ISBD [article]  inAutism > 23-5 (July 2019) . - p.1210-1223 Titre : Neural self-representation in autistic women and association with 'compensatory camouflaging' Type de document : Texte imprimé et/ou numérique Auteurs : Meng-Chuan LAI, Auteur ; M. V. LOMBARDO, Auteur ; Bhismadev CHAKRABARTI, Auteur ; A. N. RUIGROK, Auteur ; Edward T. BULLMORE, Auteur ; J. SUCKLING, Auteur ; Bonnie AUYEUNG, Auteur ; Francesca HAPPE, Auteur ; P. SZATMARI, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : p.1210-1223 Langues : Anglais (eng) Mots-clés : adult  autism  camouflaging  compensation  functional magnetic resonance imaging  gender  heterogeneity  mentalizing  self  sex Index. décimale : PER Périodiques Résumé : Prior work has revealed sex/gender-dependent autistic characteristics across behavioural and neural/biological domains. It remains unclear whether and how neural sex/gender differences are related to behavioural sex/gender differences in autism. Here, we examined whether atypical neural responses during mentalizing and self-representation are sex/gender-dependent in autistic adults and explored whether 'camouflaging' (acting as if behaviourally neurotypical) is associated with sex/gender-dependent neural responses. In total, N = 119 adults (33 typically developing males, 29 autistic males, 29 typically developing females and 28 autistic females) participated in a task-related functional magnetic resonance imaging paradigm to assess neural activation within right temporo-parietal junction and ventromedial prefrontal cortex during mentalizing and self-representation. Camouflaging in autism was quantified as the discrepancy between extrinsic behaviour in social-interpersonal contexts and intrinsic status. While autistic men showed hypoactive right temporo-parietal junction mentalizing and ventromedial prefrontal cortex self-representation responses compared to typically developing men, such neural responses in autistic women were not different from typically developing women. In autistic women only, increasing camouflaging was associated with heightened ventromedial prefrontal cortex self-representation response. There is a lack of impaired neural self-representation and mentalizing in autistic women compared to typically developing women. Camouflaging is heightened in autistic women and may relate to neural self-representation response. These results reveal brain-behaviour relations that help explain sex/gender-heterogeneity in social brain function in autism. En ligne : http://dx.doi.org/10.1177/1362361318807159 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=401 [article] Neural self-representation in autistic women and association with 'compensatory camouflaging' [Texte imprimé et/ou numérique] / Meng-Chuan LAI, Auteur ; M. V. LOMBARDO, Auteur ; Bhismadev CHAKRABARTI, Auteur ; A. N. RUIGROK, Auteur ; Edward T. BULLMORE, Auteur ; J. SUCKLING, Auteur ; Bonnie AUYEUNG, Auteur ; Francesca HAPPE, Auteur ; P. SZATMARI, Auteur ; Simon BARON-COHEN, Auteur . - p.1210-1223. Langues : Anglais (eng) in Autism > 23-5 (July 2019) . - p.1210-1223 Mots-clés : adult  autism  camouflaging  compensation  functional magnetic resonance imaging  gender  heterogeneity  mentalizing  self  sex Index. décimale : PER Périodiques Résumé : Prior work has revealed sex/gender-dependent autistic characteristics across behavioural and neural/biological domains. It remains unclear whether and how neural sex/gender differences are related to behavioural sex/gender differences in autism. Here, we examined whether atypical neural responses during mentalizing and self-representation are sex/gender-dependent in autistic adults and explored whether 'camouflaging' (acting as if behaviourally neurotypical) is associated with sex/gender-dependent neural responses. In total, N = 119 adults (33 typically developing males, 29 autistic males, 29 typically developing females and 28 autistic females) participated in a task-related functional magnetic resonance imaging paradigm to assess neural activation within right temporo-parietal junction and ventromedial prefrontal cortex during mentalizing and self-representation. Camouflaging in autism was quantified as the discrepancy between extrinsic behaviour in social-interpersonal contexts and intrinsic status. While autistic men showed hypoactive right temporo-parietal junction mentalizing and ventromedial prefrontal cortex self-representation responses compared to typically developing men, such neural responses in autistic women were not different from typically developing women. In autistic women only, increasing camouflaging was associated with heightened ventromedial prefrontal cortex self-representation response. There is a lack of impaired neural self-representation and mentalizing in autistic women compared to typically developing women. Camouflaging is heightened in autistic women and may relate to neural self-representation response. These results reveal brain-behaviour relations that help explain sex/gender-heterogeneity in social brain function in autism. En ligne : http://dx.doi.org/10.1177/1362361318807159 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=401

Prototyping as subtyping strategy for studying heterogeneity in autism / M. V. LOMBARDO in Autism Research, 14-10 (October 2021)  

Public ISBD [article]  inAutism Research > 14-10 (October 2021) . - p.2224-2227 Titre : Prototyping as subtyping strategy for studying heterogeneity in autism Type de document : Texte imprimé et/ou numérique Auteurs : M. V. LOMBARDO, Auteur Article en page(s) : p.2224-2227 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Autistic Disorder  Humans Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.2535 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Prototyping as subtyping strategy for studying heterogeneity in autism [Texte imprimé et/ou numérique] / M. V. LOMBARDO, Auteur . - p.2224-2227. Langues : Anglais (eng) in Autism Research > 14-10 (October 2021) . - p.2224-2227 Mots-clés : Autism Spectrum Disorder  Autistic Disorder  Humans Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.2535 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Rigor in science and science reporting: updated guidelines for submissions to Molecular Autism / Joseph D. BUXBAUM in Molecular Autism, 10 (2019)  

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The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation / Tony CHARMAN in Molecular Autism, 8 (2017)  

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The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders / E. LOTH in Molecular Autism, 8 (2017)  

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