Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence / J. KLUSEK in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.31 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 [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

ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males / Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Titre : ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males Type de document : Texte imprimé et/ou numérique Auteurs : Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.960-977 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males [Texte imprimé et/ou numérique] / Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur . - p.960-977. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes / J. KLUSEK in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.835-851 Titre : Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes Type de document : Texte imprimé et/ou numérique Auteurs : J. KLUSEK, Auteur ; A. J. THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.835-851 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Depression  Family  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics  Humans  Language  Loneliness  Mothers  Phenotype  Autism spectrum disorder  Fragile X premutation  Fragile X syndrome  Social communication Index. décimale : PER Périodiques Résumé : Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-04980-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes [Texte imprimé et/ou numérique] / J. KLUSEK, Auteur ; A. J. THURMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.835-851. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.835-851 Mots-clés : Autism Spectrum Disorder/genetics  Depression  Family  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics  Humans  Language  Loneliness  Mothers  Phenotype  Autism spectrum disorder  Fragile X premutation  Fragile X syndrome  Social communication Index. décimale : PER Périodiques Résumé : Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-04980-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome / J. EZELL in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.1131-1141 Titre : Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. EZELL, Auteur ; A. HOGAN, Auteur ; A. FAIRCHILD, Auteur ; K. HILLS, Auteur ; J. KLUSEK, Auteur ; Leonard ABBEDUTO, Auteur ; J. ROBERTS, Auteur Article en page(s) : p.1131-1141 Langues : Anglais (eng) Mots-clés : Anxiety  Autism spectrum disorder  Fragile X syndrome  Intellectual disability Index. décimale : PER Périodiques Résumé : Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors, and medication of anxiety disorders between age-matched, male adolescents with FXS (n = 31) or ASD (n = 20). Results indicate that 51.6% of FXS and 50.0% of ASD adolescents met criteria for an anxiety disorder. Cognitive scores and ASD severity did not predict anxiety. Of those with anxiety, ~ 40% of the FXS and 20% of the ASD participants were prescribed medications for anxiety. En ligne : http://dx.doi.org/10.1007/s10803-018-3804-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome [Texte imprimé et/ou numérique] / J. EZELL, Auteur ; A. HOGAN, Auteur ; A. FAIRCHILD, Auteur ; K. HILLS, Auteur ; J. KLUSEK, Auteur ; Leonard ABBEDUTO, Auteur ; J. ROBERTS, Auteur . - p.1131-1141. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.1131-1141 Mots-clés : Anxiety  Autism spectrum disorder  Fragile X syndrome  Intellectual disability Index. décimale : PER Périodiques Résumé : Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors, and medication of anxiety disorders between age-matched, male adolescents with FXS (n = 31) or ASD (n = 20). Results indicate that 51.6% of FXS and 50.0% of ASD adolescents met criteria for an anxiety disorder. Cognitive scores and ASD severity did not predict anxiety. Of those with anxiety, ~ 40% of the FXS and 20% of the ASD participants were prescribed medications for anxiety. En ligne : http://dx.doi.org/10.1007/s10803-018-3804-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.16 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 [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

Vagal Tone as a Putative Mechanism for Pragmatic Competence: An Investigation of Carriers of the FMR1 Premutation / J. KLUSEK in Journal of Autism and Developmental Disorders, 49-1 (January 2019)  

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