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

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

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

Public ISBD in Autism Spectrum Disorder: Neuromodulation, Neurofeedback, and Sensory Integration Approaches to Research and Treatment / Estate M. SOKHADZE Titre : Autonomic Nervous System Dysfunctions in Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Estate M. SOKHADZE, Auteur ; Manuel F. CASANOVA, Auteur ; Emily L. CASANOVA, Auteur ; Jessica KLUSEK, Auteur ; Jane E. ROBERTS, Auteur Année de publication : 2019 Importance : p.165-201 Langues : Anglais (eng) Index. décimale : AUT-F AUT-F - L'Autisme - Soins Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399 in Autism Spectrum Disorder: Neuromodulation, Neurofeedback, and Sensory Integration Approaches to Research and Treatment / Estate M. SOKHADZE Autonomic Nervous System Dysfunctions in Children with Autism Spectrum Disorder [texte imprimé] / Estate M. SOKHADZE, Auteur ; Manuel F. CASANOVA, Auteur ; Emily L. CASANOVA, Auteur ; Jessica KLUSEK, Auteur ; Jane E. ROBERTS, Auteur . - 2019 . - p.165-201. Langues : Anglais (eng) Index. décimale : AUT-F AUT-F - L'Autisme - Soins Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399

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Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study / Molly LOSH in Journal of Autism and Developmental Disorders, 47-3 (March 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.834-845 Titre : Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study Type de document : texte imprimé Auteurs : Molly LOSH, Auteur ; Gary E. MARTIN, Auteur ; Michelle LEE, Auteur ; Jessica KLUSEK, Auteur ; John SIDERIS, Auteur ; Sheila BARRON, Auteur ; Thomas WASSINK, Auteur Article en page(s) : p.834-845 Langues : Anglais (eng) Mots-clés : Autism  Genetics  Endophenotype  Longitudinal  Broad autism phenotype  Language Index. décimale : PER Périodiques Résumé : Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents’ childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents’ childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability. En ligne : http://dx.doi.org/10.1007/s10803-016-2996-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study [texte imprimé] / Molly LOSH, Auteur ; Gary E. MARTIN, Auteur ; Michelle LEE, Auteur ; Jessica KLUSEK, Auteur ; John SIDERIS, Auteur ; Sheila BARRON, Auteur ; Thomas WASSINK, Auteur . - p.834-845. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.834-845 Mots-clés : Autism  Genetics  Endophenotype  Longitudinal  Broad autism phenotype  Language Index. décimale : PER Périodiques Résumé : Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents’ childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents’ childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability. En ligne : http://dx.doi.org/10.1007/s10803-016-2996-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation / Jessica KLUSEK in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation Type de document : texte imprimé Auteurs : Jessica KLUSEK, Auteur ; Amanda FAIRCHILD, Auteur ; Carly MOSER, Auteur ; Marsha R. MAILICK, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Langues : Anglais (eng) Mots-clés : Adult  Alleles  Ataxia/genetics  Child  Cognitive Dysfunction/complications/genetics  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/genetics  Humans  Language Disorders  Middle Aged  Mothers  Neurodegenerative Diseases/complications/genetics  Tremor/genetics  Aging  Fragile X premutation  Grammatical complexity  Language production  trials from F. Hoffman-LaRoche, Ltd., Roche TCRC, Inc., Neuren Pharmaceuticals  Limited, Inc, and the LuMind IDSC Foundation. AJT has received funding to develop  and implement outcome measures from Fulcrum Therapeutic. MM serves as the chair  of the Scientific Advisory Board of the John Merck Fund Developmental  Disabilities Program. The authors have no other relevant conflicts of interest to  disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. METHODS: Forty-five women with the FMR1 premutation aged 35-64 years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. RESULTS: Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. CONCLUSIONS: Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation. En ligne : https://dx.doi.org/10.1186/s11689-022-09415-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation [texte imprimé] / Jessica KLUSEK, Auteur ; Amanda FAIRCHILD, Auteur ; Carly MOSER, Auteur ; Marsha R. MAILICK, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adult  Alleles  Ataxia/genetics  Child  Cognitive Dysfunction/complications/genetics  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/genetics  Humans  Language Disorders  Middle Aged  Mothers  Neurodegenerative Diseases/complications/genetics  Tremor/genetics  Aging  Fragile X premutation  Grammatical complexity  Language production  trials from F. Hoffman-LaRoche, Ltd., Roche TCRC, Inc., Neuren Pharmaceuticals  Limited, Inc, and the LuMind IDSC Foundation. AJT has received funding to develop  and implement outcome measures from Fulcrum Therapeutic. MM serves as the chair  of the Scientific Advisory Board of the John Merck Fund Developmental  Disabilities Program. The authors have no other relevant conflicts of interest to  disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. METHODS: Forty-five women with the FMR1 premutation aged 35-64 years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. RESULTS: Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. CONCLUSIONS: Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation. En ligne : https://dx.doi.org/10.1186/s11689-022-09415-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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

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Phonological awareness and reading in boys with fragile X syndrome / Suzanne M. ADLOF in Journal of Child Psychology and Psychiatry, 56-1 (January 2015)  

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

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Reading and Phonological Skills in Boys with Fragile X Syndrome / Jessica KLUSEK in Journal of Autism and Developmental Disorders, 45-6 (June 2015)  

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Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety / Jessica KLUSEK in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Sex differences and within-family associations in the broad autism phenotype / Jessica KLUSEK in Autism, 18-2 (February 2014)  

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The effects of the COVID-19 pandemic on mental health in mothers of autistic children and mothers of children with fragile X syndrome / Laura FRIEDMAN ; Katherine BANGERT ; Alexandra HICKEY ; Jennifer SUN ; Jessica KLUSEK in Research in Autism Spectrum Disorders, 117 (September 2024)  

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

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