Adaptive skill trajectories in infants with fragile X syndrome contrasted to typical controls and infants at high risk for autism / Kelly E. CARAVELLA in Research in Autism Spectrum Disorders, 40 (August 2017)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 40 (August 2017) . - p.1-12 Titre : Adaptive skill trajectories in infants with fragile X syndrome contrasted to typical controls and infants at high risk for autism Type de document : texte imprimé Auteurs : Kelly E. CARAVELLA, Auteur ; Jane E. ROBERTS, Auteur Article en page(s) : p.1-12 Langues : Anglais (eng) Mots-clés : Adaptive behavior  Fragile X syndrome  Infancy  Autism infant siblings Index. décimale : PER Périodiques Résumé : AbstractBackground Adaptive behaviors are essential for optimal outcomes and independence in individuals with developmental disabilities. This study examined longitudinal trajectories of adaptive behavior in infants with fragile X syndrome (FXS), compared to typical development (TD) and infant siblings of children diagnosed with autism (ASIBs). Method Participants included 76 male infants (FXS = 25, ASIBs = 27, TD = 24) assessed up to 4 times between 6 and 24 months of age for a total of 215 assessments of adaptive behavior. A sample of 12 females with FXS was included for a comparative sex analysis. Results Results indicate that infant males with FXS displayed lower initial adaptive behavior across all domains that emerged by 9 months-of-age with slower growth rates than both comparison groups. A flat profile across the domains at 24 months was evident. Increased severity of autism symptoms was related to reduced adaptive skills at 24 months-of-age. Females with FXS displayed higher scores than males on the Socialization and Motor domains and equivalent scores on the Communication and Daily Living domains at 9 months-of-age with different rates of growth across domains. Conclusions This is the first study to provide evidence of etiological specificity in adaptive behavior profiles during infancy across two populations at high risk for ASD. These findings support targeted adaptive behavior interventions in young children with FXS beginning as early at 9 months of age to reduce identified deficits and the cascading impacts of these early impairments. En ligne : https://doi.org/10.1016/j.rasd.2017.05.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=317 [article] Adaptive skill trajectories in infants with fragile X syndrome contrasted to typical controls and infants at high risk for autism [texte imprimé] / Kelly E. CARAVELLA, Auteur ; Jane E. ROBERTS, Auteur . - p.1-12. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 40 (August 2017) . - p.1-12 Mots-clés : Adaptive behavior  Fragile X syndrome  Infancy  Autism infant siblings Index. décimale : PER Périodiques Résumé : AbstractBackground Adaptive behaviors are essential for optimal outcomes and independence in individuals with developmental disabilities. This study examined longitudinal trajectories of adaptive behavior in infants with fragile X syndrome (FXS), compared to typical development (TD) and infant siblings of children diagnosed with autism (ASIBs). Method Participants included 76 male infants (FXS = 25, ASIBs = 27, TD = 24) assessed up to 4 times between 6 and 24 months of age for a total of 215 assessments of adaptive behavior. A sample of 12 females with FXS was included for a comparative sex analysis. Results Results indicate that infant males with FXS displayed lower initial adaptive behavior across all domains that emerged by 9 months-of-age with slower growth rates than both comparison groups. A flat profile across the domains at 24 months was evident. Increased severity of autism symptoms was related to reduced adaptive skills at 24 months-of-age. Females with FXS displayed higher scores than males on the Socialization and Motor domains and equivalent scores on the Communication and Daily Living domains at 9 months-of-age with different rates of growth across domains. Conclusions This is the first study to provide evidence of etiological specificity in adaptive behavior profiles during infancy across two populations at high risk for ASD. These findings support targeted adaptive behavior interventions in young children with FXS beginning as early at 9 months of age to reduce identified deficits and the cascading impacts of these early impairments. En ligne : https://doi.org/10.1016/j.rasd.2017.05.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=317

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence / Jessica 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 Auteurs : Jessica KLUSEK, Auteur ; Jonathan SCHMIDT, Auteur ; Amanda J. FAIRCHILD, Auteur ; Anna PORTER, Auteur ; Jane 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] / Jessica KLUSEK, Auteur ; Jonathan SCHMIDT, Auteur ; Amanda J. FAIRCHILD, Auteur ; Anna PORTER, Auteur ; Jane 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

Arousal Modulation in Females with Fragile X or Turner Syndrome / Jane E. ROBERTS in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.20-27 Titre : Arousal Modulation in Females with Fragile X or Turner Syndrome Type de document : texte imprimé Auteurs : Jane E. ROBERTS, Auteur ; Michèle M.M. MAZZOCCO, Auteur ; Melissa M. MURPHY, Auteur ; Rudolf HOEHN-SARIC, Auteur Année de publication : 2008 Article en page(s) : p.20-27 Langues : Anglais (eng) Mots-clés : Psychophysiology Arousal Cognition Fragile-X-syndrome Turner-Syndrome Index. décimale : PER Périodiques Résumé : The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance, across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was associated with poor arithmetic performance and less risk taking behavior, females with fragile X displayed a minimal increase in heart activity that was nevertheless associated with poor performance on mental arithmetic. In contrast, no arousal–cognitive performance relationship emerged for the group with Turner syndrome. Taken together, our findings suggest that distinct profiles of arousal modulation might be associated with cognitive deficits in these syndrome populations. En ligne : http://dx.doi.org/10.1007/s10803-007-0356-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315 [article] Arousal Modulation in Females with Fragile X or Turner Syndrome [texte imprimé] / Jane E. ROBERTS, Auteur ; Michèle M.M. MAZZOCCO, Auteur ; Melissa M. MURPHY, Auteur ; Rudolf HOEHN-SARIC, Auteur . - 2008 . - p.20-27. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.20-27 Mots-clés : Psychophysiology Arousal Cognition Fragile-X-syndrome Turner-Syndrome Index. décimale : PER Périodiques Résumé : The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance, across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was associated with poor arithmetic performance and less risk taking behavior, females with fragile X displayed a minimal increase in heart activity that was nevertheless associated with poor performance on mental arithmetic. In contrast, no arousal–cognitive performance relationship emerged for the group with Turner syndrome. Taken together, our findings suggest that distinct profiles of arousal modulation might be associated with cognitive deficits in these syndrome populations. En ligne : http://dx.doi.org/10.1007/s10803-007-0356-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315

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 Auteurs : Leonard ABBEDUTO, Auteur ; Angela J. THURMAN, Auteur ; Andrea MCDUFFIE, Auteur ; Jessica KLUSEK, Auteur ; Robyn Tempero FEIGLES, Auteur ; W. Ted BROWN, Auteur ; Danielle J. HARVEY, Auteur ; Tatyana ADAYEV, Auteur ; Giuseppe LAFAUCI, Auteur ; Carl DOBKINS, Auteur ; Jane 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] / Leonard ABBEDUTO, Auteur ; Angela J. THURMAN, Auteur ; Andrea MCDUFFIE, Auteur ; Jessica KLUSEK, Auteur ; Robyn Tempero FEIGLES, Auteur ; W. Ted BROWN, Auteur ; Danielle J. HARVEY, Auteur ; Tatyana ADAYEV, Auteur ; Giuseppe LAFAUCI, Auteur ; Carl DOBKINS, Auteur ; Jane 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

Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series / Abigail L. HOGAN in Journal of Autism and Developmental Disorders, 47-6 (June 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1628-1644 Titre : Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series Type de document : texte imprimé Auteurs : Abigail L. HOGAN, Auteur ; Kelly E. CARAVELLA, Auteur ; Jordan EZELL, Auteur ; Lisa RAGUE, Auteur ; Kimberly HILLS, Auteur ; Jane E. ROBERTS, Auteur Article en page(s) : p.1628-1644 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  Autism spectrum disorder  Infants  Case studies Index. décimale : PER Périodiques Résumé : No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD. Repetitive behaviors and cognitive and adaptive impairments are present in all FXS infants throughout development, suggesting that these deficits reflect the general FXS phenotype and not ASD in FXS specifically. En ligne : http://dx.doi.org/10.1007/s10803-017-3081-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308 [article] Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series [texte imprimé] / Abigail L. HOGAN, Auteur ; Kelly E. CARAVELLA, Auteur ; Jordan EZELL, Auteur ; Lisa RAGUE, Auteur ; Kimberly HILLS, Auteur ; Jane E. ROBERTS, Auteur . - p.1628-1644. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1628-1644 Mots-clés : Fragile X syndrome  Autism spectrum disorder  Infants  Case studies Index. décimale : PER Périodiques Résumé : No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD. Repetitive behaviors and cognitive and adaptive impairments are present in all FXS infants throughout development, suggesting that these deficits reflect the general FXS phenotype and not ASD in FXS specifically. En ligne : http://dx.doi.org/10.1007/s10803-017-3081-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308

Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction / Jane E. ROBERTS in Journal of Neurodevelopmental Disorders, 1-4 (December 2009)  

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Autonomic Nervous System Dysfunctions in Children with Autism Spectrum Disorder / Estate M. SOKHADZE

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Behavioral and Physiological Responses to Child-Directed Speech of Children with Autism Spectrum Disorders or Typical Development / Linda R. WATSON in Journal of Autism and Developmental Disorders, 42-8 (August 2012)  

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Brief Report: Autism Symptoms in Infants with Fragile X Syndrome / Jane E. ROBERTS in Journal of Autism and Developmental Disorders, 46-12 (December 2016)  

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Brief Report: Prevalence and Predictors of DSM-Specific and Distinct Anxiety in Cognitively Impaired Autistic Preschool Children / Connor M. KERNS ; Kimberly HILLS ; Abigail L. HOGAN-BROWN ; Sara MATHERLY ; Jane E. ROBERTS in Journal of Autism and Developmental Disorders, 55-5 (May 2025)  

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Developmental associations between motor and communication outcomes in Fragile X syndrome: Variation in the context of co-occurring autism / Kimberly HILLS ; Kayla SMITH ; Samuel MCQUILLIN ; Jane E. ROBERTS in Autism, 28-9 (September 2024)  

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Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism / Elizabeth A. WILL in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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Distinct social attention profiles in preschoolers with autism contrasted to fragile X syndrome / Frederick SHIC ; Sreeja VARANASI ; Jane E. ROBERTS in Autism Research, 16-2 (February 2023)  

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DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4-17?years / Linnea A. LAMPINEN in Journal of Child Psychology and Psychiatry, 66-9 (September 2025)  

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Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome / Conner J. BLACK in Journal of Neurodevelopmental Disorders, 13 (2021)  

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