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Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety / J. KLUSEK in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety Type de document : Texte imprimé et/ou numérique Auteurs : J. KLUSEK, Auteur ; G. LAFAUCI, Auteur ; T. ADAYEV, Auteur ; W. Ted BROWN, Auteur ; F. TASSONE, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.16 Langues : Anglais (eng) Mots-clés : FMR1 mRNA Fmrp Fragile X carriers Heart rate Physiological arousal Vagal tone Index. décimale : PER Périodiques Résumé : BACKGROUND: Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. METHODS: Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls. The women completed anxiety and depression questionnaires. FMR1 genetic indices (i.e., CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. RESULTS: Respiratory sinus arrhythmia was reduced in the FMR1 premutation group relative to controls. While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. Elevated FMR1 mRNA was associated with higher respiratory sinus arrhythmia. CONCLUSIONS: Women with the FMR1 premutation demonstrated autonomic dysregulation characterized by reduced vagal tone. Unlike patterns observed in the general population and in study controls, vagal activity and depression symptoms were decoupled in women with the FMR1 premutation, suggesting independence between autonomic regulation and psychopathological symptoms that is atypical and potentially specific to the FMR1 premutation. The association between vagal tone and mRNA suggests that molecular variation associated with FMR1 plays a role in autonomic regulation. En ligne : http://dx.doi.org/10.1186/s11689-017-9197-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.16[article] Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety [Texte imprimé et/ou numérique] / J. KLUSEK, Auteur ; G. LAFAUCI, Auteur ; T. ADAYEV, Auteur ; W. Ted BROWN, Auteur ; F. TASSONE, Auteur ; J. E. ROBERTS, Auteur . - p.16.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.16
Mots-clés : FMR1 mRNA Fmrp Fragile X carriers Heart rate Physiological arousal Vagal tone Index. décimale : PER Périodiques Résumé : BACKGROUND: Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. METHODS: Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls. The women completed anxiety and depression questionnaires. FMR1 genetic indices (i.e., CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. RESULTS: Respiratory sinus arrhythmia was reduced in the FMR1 premutation group relative to controls. While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. Elevated FMR1 mRNA was associated with higher respiratory sinus arrhythmia. CONCLUSIONS: Women with the FMR1 premutation demonstrated autonomic dysregulation characterized by reduced vagal tone. Unlike patterns observed in the general population and in study controls, vagal activity and depression symptoms were decoupled in women with the FMR1 premutation, suggesting independence between autonomic regulation and psychopathological symptoms that is atypical and potentially specific to the FMR1 premutation. The association between vagal tone and mRNA suggests that molecular variation associated with FMR1 plays a role in autonomic regulation. En ligne : http://dx.doi.org/10.1186/s11689-017-9197-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence / J. KLUSEK in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence Type de document : Texte imprimé et/ou numérique Auteurs : J. KLUSEK, Auteur ; J. SCHMIDT, Auteur ; A. J. FAIRCHILD, Auteur ; A. PORTER, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.31 Langues : Anglais (eng) Mots-clés : Direct gaze Eye contact Fragile X carriers Social cognition Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze as a fundamental social-cognitive skill that may be impaired in the FMR1 premutation and could underlie pragmatic deficits. Given the high prevalence of the FMR1 premutation, efforts to define its phenotype and mechanistic underpinnings have significant public health implications. METHODS: Thirty-five women with the FMR1 premutation and 20 control women completed an eye-tracking paradigm that recorded time spent dwelling within the eye region in response to a face displaying either direct or averted gaze. Pragmatic language ability was coded from a conversational sample using the Pragmatic Rating Scale. RESULTS: Women with the FMR1 premutation failed to show attentional preference to direct gaze and spent more time dwelling on the averted eyes relative to controls. While dwelling on the eyes was associated with better pragmatic language performance in controls, these variables were unrelated in the women with the FMR1 premutation. CONCLUSIONS: Altered sensitivity to social gaze, characterized by increased salience of averted gaze, was observed among women with the FMR1 premutation. Furthermore, women with the FMR1 premutation were unable to capitalize on information conveyed through the eyes to enhance social-communicative engagement, which differed from patterns seen in controls. These findings contribute to the growing characterization of social and communication phenotypes associated with the FMR1 premutation. En ligne : http://dx.doi.org/10.1186/s11689-017-9211-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.31[article] Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence [Texte imprimé et/ou numérique] / J. KLUSEK, Auteur ; J. SCHMIDT, Auteur ; A. J. FAIRCHILD, Auteur ; A. PORTER, Auteur ; J. E. ROBERTS, Auteur . - p.31.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.31
Mots-clés : Direct gaze Eye contact Fragile X carriers Social cognition Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze as a fundamental social-cognitive skill that may be impaired in the FMR1 premutation and could underlie pragmatic deficits. Given the high prevalence of the FMR1 premutation, efforts to define its phenotype and mechanistic underpinnings have significant public health implications. METHODS: Thirty-five women with the FMR1 premutation and 20 control women completed an eye-tracking paradigm that recorded time spent dwelling within the eye region in response to a face displaying either direct or averted gaze. Pragmatic language ability was coded from a conversational sample using the Pragmatic Rating Scale. RESULTS: Women with the FMR1 premutation failed to show attentional preference to direct gaze and spent more time dwelling on the averted eyes relative to controls. While dwelling on the eyes was associated with better pragmatic language performance in controls, these variables were unrelated in the women with the FMR1 premutation. CONCLUSIONS: Altered sensitivity to social gaze, characterized by increased salience of averted gaze, was observed among women with the FMR1 premutation. Furthermore, women with the FMR1 premutation were unable to capitalize on information conveyed through the eyes to enhance social-communicative engagement, which differed from patterns seen in controls. These findings contribute to the growing characterization of social and communication phenotypes associated with the FMR1 premutation. En ligne : http://dx.doi.org/10.1186/s11689-017-9211-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350