15 recherche sur le mot-clé 'Fragile X'

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

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-12 (December 2016) . - p.3830-3837 Titre : Brief Report: Autism Symptoms in Infants with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jane E. ROBERTS, Auteur ; Bridgette L. TONNSEN, Auteur ; Lindsay M. MCCARY, Auteur ; Kelly E. CARAVELLA, Auteur ; Svetlana V. SHINKAREVA, Auteur Article en page(s) : p.3830-3837 Langues : Anglais (eng) Mots-clés : Autism  Fragile X  Infants  Autism Observation Scale for Infants Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50–75?% of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our findings indicate that 53?% of 12-month infants with FXS fall in the “at risk” category compared to 17 and 6?% for age-matched ASIBs and controls, respectively. Elevated atypical motor behaviors were associated with elevated risk for FXS. Cross-syndrome comparisons are essential to understanding the heterogeneity of ASD and identifying candidate markers that will facilitate differential diagnosis of ASD in genetic disorders such as FXS. En ligne : http://dx.doi.org/10.1007/s10803-016-2903-5 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2978 [article] Brief Report: Autism Symptoms in Infants with Fragile X Syndrome [Texte imprimé et/ou numérique] / Jane E. ROBERTS, Auteur ; Bridgette L. TONNSEN, Auteur ; Lindsay M. MCCARY, Auteur ; Kelly E. CARAVELLA, Auteur ; Svetlana V. SHINKAREVA, Auteur . - p.3830-3837. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-12 (December 2016) . - p.3830-3837 Mots-clés : Autism  Fragile X  Infants  Autism Observation Scale for Infants Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50–75?% of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our findings indicate that 53?% of 12-month infants with FXS fall in the “at risk” category compared to 17 and 6?% for age-matched ASIBs and controls, respectively. Elevated atypical motor behaviors were associated with elevated risk for FXS. Cross-syndrome comparisons are essential to understanding the heterogeneity of ASD and identifying candidate markers that will facilitate differential diagnosis of ASD in genetic disorders such as FXS. En ligne : http://dx.doi.org/10.1007/s10803-016-2903-5 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2978

FMRP and the Pathophysiology of Fragile X Syndrome / Stephanie A. BARNES  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : FMRP and the Pathophysiology of Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Stephanie A. BARNES, Auteur ; Sophie R. THOMSON, Auteur ; Peter C. KIND, Auteur ; Emily K. OSTERWEIL, Auteur Année de publication : 2016 Importance : p.113-128 Langues : Anglais (eng) Mots-clés : ERK  FMR1  FMRP  Fragile X  mGluR1/5  Protein synthesis Index. décimale : SCI-D Neurosciences Résumé : Fragile X syndrome (FXS) is a single-gene disorder that is the most prevalent heritable cause of intellectual disability and one of the most common single-gene causes of autism spectrum disorder (ASD). Although there is a clear genetic origin of FXS, there is still much to learn about the cellular and physiological consequences of FMR1 mutation. This knowledge is critical to the development of treatments to target the core pathophysiology of FXS. In this chapter, we summarize what is known about the function of the FMR1 gene and the encoded Fragile X mental retardation protein and describe the major cellular and neurophysiological phenotypes observed in the FXS mouse model. We then discuss evidence supporting the metabotropic glutamate receptor (mGluR) theory of Fragile X, which states that dysregulated protein synthesis downstream of mGluR1/5 is a core contributor to the pathogenesis of FXS. The remainder of the chapter will be devoted to discussing the clinical implications of this research and its relevance to the wider ASD population. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00008-X Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3014 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA FMRP and the Pathophysiology of Fragile X Syndrome [Texte imprimé et/ou numérique] / Stephanie A. BARNES, Auteur ; Sophie R. THOMSON, Auteur ; Peter C. KIND, Auteur ; Emily K. OSTERWEIL, Auteur . - 2016 . - p.113-128. Langues : Anglais (eng) Mots-clés : ERK  FMR1  FMRP  Fragile X  mGluR1/5  Protein synthesis Index. décimale : SCI-D Neurosciences Résumé : Fragile X syndrome (FXS) is a single-gene disorder that is the most prevalent heritable cause of intellectual disability and one of the most common single-gene causes of autism spectrum disorder (ASD). Although there is a clear genetic origin of FXS, there is still much to learn about the cellular and physiological consequences of FMR1 mutation. This knowledge is critical to the development of treatments to target the core pathophysiology of FXS. In this chapter, we summarize what is known about the function of the FMR1 gene and the encoded Fragile X mental retardation protein and describe the major cellular and neurophysiological phenotypes observed in the FXS mouse model. We then discuss evidence supporting the metabotropic glutamate receptor (mGluR) theory of Fragile X, which states that dysregulated protein synthesis downstream of mGluR1/5 is a core contributor to the pathogenesis of FXS. The remainder of the chapter will be devoted to discussing the clinical implications of this research and its relevance to the wider ASD population. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00008-X Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3014

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Social Avoidance Emerges in Infancy and Persists into Adulthood in Fragile X Syndrome / J. ROBERTS in Journal of Autism and Developmental Disorders, 49-9 (September 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3753-3766 Titre : Social Avoidance Emerges in Infancy and Persists into Adulthood in Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. ROBERTS, Auteur ; Hayley CRAWFORD, Auteur ; A. L. HOGAN, Auteur ; A. FAIRCHILD, Auteur ; B. TONNSEN, Auteur ; A. BREWE, Auteur ; S. O'CONNOR, Auteur ; D. A. ROBERTS, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.3753-3766 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fragile X  Infant  Social anxiety  Social approach Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by both social approach and social avoidance. However, the age of emergence and developmental trajectory of social avoidance has not been examined. This study investigates the longitudinal developmental trajectory and dynamic nature of social avoidance in males with FXS from infancy through young adulthood (n = 191). Multiple facets of social avoidance were collected using the Social Avoidance Scale (Roberts et al. 2007, 2009). Overall, 81% of males with FXS displayed social avoidance, which emerged during infancy, increased in severity across childhood, and stabilized through adolescence and early adulthood. An exaggerated "warm up" effect was also observed in FXS. This study delineates the complex profile of social avoidance, a common and impairing behavioral feature of FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-04051-8 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4053 [article] Social Avoidance Emerges in Infancy and Persists into Adulthood in Fragile X Syndrome [Texte imprimé et/ou numérique] / J. ROBERTS, Auteur ; Hayley CRAWFORD, Auteur ; A. L. HOGAN, Auteur ; A. FAIRCHILD, Auteur ; B. TONNSEN, Auteur ; A. BREWE, Auteur ; S. O'CONNOR, Auteur ; D. A. ROBERTS, Auteur ; Leonard ABBEDUTO, Auteur . - p.3753-3766. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3753-3766 Mots-clés : Autism spectrum disorder  Fragile X  Infant  Social anxiety  Social approach Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by both social approach and social avoidance. However, the age of emergence and developmental trajectory of social avoidance has not been examined. This study investigates the longitudinal developmental trajectory and dynamic nature of social avoidance in males with FXS from infancy through young adulthood (n = 191). Multiple facets of social avoidance were collected using the Social Avoidance Scale (Roberts et al. 2007, 2009). Overall, 81% of males with FXS displayed social avoidance, which emerged during infancy, increased in severity across childhood, and stabilized through adolescence and early adulthood. An exaggerated "warm up" effect was also observed in FXS. This study delineates the complex profile of social avoidance, a common and impairing behavioral feature of FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-04051-8 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4053

Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over Time in Fragile X Syndrome / Heather FIELDING-GEBHARDT in Journal of Autism and Developmental Disorders, 50-3 (March 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.779-797 Titre : Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over Time in Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Heather FIELDING-GEBHARDT, Auteur ; Steven F. WARREN, Auteur ; Nancy C. BRADY, Auteur Article en page(s) : p.779-797 Langues : Anglais (eng) Mots-clés : Challenging behaviors  Fragile X  Mental health  Relationship quality Index. décimale : PER Périodiques Résumé : Parenting children with neurodevelopmental disabilities is often challenging. Biological mothers of children with Fragile X Syndrome (FXS) may be susceptible to increased risk of mental health problems. This study examined the longitudinal relationships between maternal mental health, child challenging behaviors, and mother-child relationship quality in children and adolescents with FXS. Fifty-five mother-child dyads were followed from childhood into adolescence. The findings suggest that child challenging behaviors, maternal mental health, and mother-child relationship quality were stable during that period. Additionally, elevated levels of child challenging behaviors negatively impacted maternal mental health. Finally, child challenging behaviors, in combination with maternal mental health, influenced mother-child relationship quality. Clinical implications are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04308-2 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4198 [article] Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over Time in Fragile X Syndrome [Texte imprimé et/ou numérique] / Heather FIELDING-GEBHARDT, Auteur ; Steven F. WARREN, Auteur ; Nancy C. BRADY, Auteur . - p.779-797. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.779-797 Mots-clés : Challenging behaviors  Fragile X  Mental health  Relationship quality Index. décimale : PER Périodiques Résumé : Parenting children with neurodevelopmental disabilities is often challenging. Biological mothers of children with Fragile X Syndrome (FXS) may be susceptible to increased risk of mental health problems. This study examined the longitudinal relationships between maternal mental health, child challenging behaviors, and mother-child relationship quality in children and adolescents with FXS. Fifty-five mother-child dyads were followed from childhood into adolescence. The findings suggest that child challenging behaviors, maternal mental health, and mother-child relationship quality were stable during that period. Additionally, elevated levels of child challenging behaviors negatively impacted maternal mental health. Finally, child challenging behaviors, in combination with maternal mental health, influenced mother-child relationship quality. Clinical implications are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04308-2 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4198

A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation / L. M. WONG in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.45 Titre : A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation Type de document : Texte imprimé et/ou numérique Auteurs : L. M. WONG, Auteur ; N. J. GOODRICH-HUNSAKER, Auteur ; Y. A. MCLENNAN, Auteur ; F. TASSONE, Auteur ; S. M. RIVERA, Auteur ; T. J. SIMON, Auteur Article en page(s) : p.45 Langues : Anglais (eng) Mots-clés : Cueing  Endogenous  Exogenous  FMR1 gene  Fxtas  Fragile X Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing of spatial information, orienting of attention to space, and inhibiting attention to irrelevant distractors. We tested whether orienting of spatial attention is impaired in fXPCs. METHODS: Participants were fXPCs or healthy controls (HCs) asymptomatic for FXTAS. In experiment 1, they were male and female children and adults (aged 7-45 years). They oriented attention in response to volitional (endogenous) and reflexive (exogenous) cues. In experiment 2, the participants were men (aged 18-48 years). They oriented attention in an endogenous cueing task that manipulated the amount of information in the cue. RESULTS: In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs. CONCLUSIONS: Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation that a core dysfunction in fXPCs is the allocation of spatial attention, while perceptual processing and attention orienting are intact. These findings indicate the importance of considering age and sex when interpreting and generalizing studies of fXPCs. En ligne : http://dx.doi.org/10.1186/1866-1955-6-45 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3471 [article] A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation [Texte imprimé et/ou numérique] / L. M. WONG, Auteur ; N. J. GOODRICH-HUNSAKER, Auteur ; Y. A. MCLENNAN, Auteur ; F. TASSONE, Auteur ; S. M. RIVERA, Auteur ; T. J. SIMON, Auteur . - p.45. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.45 Mots-clés : Cueing  Endogenous  Exogenous  FMR1 gene  Fxtas  Fragile X Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing of spatial information, orienting of attention to space, and inhibiting attention to irrelevant distractors. We tested whether orienting of spatial attention is impaired in fXPCs. METHODS: Participants were fXPCs or healthy controls (HCs) asymptomatic for FXTAS. In experiment 1, they were male and female children and adults (aged 7-45 years). They oriented attention in response to volitional (endogenous) and reflexive (exogenous) cues. In experiment 2, the participants were men (aged 18-48 years). They oriented attention in an endogenous cueing task that manipulated the amount of information in the cue. RESULTS: In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs. CONCLUSIONS: Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation that a core dysfunction in fXPCs is the allocation of spatial attention, while perceptual processing and attention orienting are intact. These findings indicate the importance of considering age and sex when interpreting and generalizing studies of fXPCs. En ligne : http://dx.doi.org/10.1186/1866-1955-6-45 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3471

Developmental trajectory of communication repair in children with Fragile X Syndrome / Heather FIELDING-GEBHARDT in Autism & Developmental Language Impairments, 5 (January-December 2020)  

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Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS) / J. KOLACZ in Journal of Autism and Developmental Disorders, 48-6 (June 2018)  

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A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome / H. HEUSSLER in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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Visual Attention and Autistic Behavior in Infants with Fragile X Syndrome / Jane E. ROBERTS in Journal of Autism and Developmental Disorders, 42-6 (June 2012)  

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Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center / Xiaoli DU in Journal of Autism and Developmental Disorders, 52-11 (November 2022)  

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