108 recherche sur le mot-clé 'Fragile X syndrome'

Fragile X Syndrome / Anne HOFFMANN  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Anne HOFFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Année de publication : 2016 Importance : p.325-346 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  FMR1  FMRP  Fragile X syndrome  Intellectual disability Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Fragile X syndrome (FXS) is recognized as the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASDs), with many overlapping phenotypic features. Fragile X syndrome is caused by absence or reduction of expression of the fragile X mental retardation protein and is associated with a variety of behavioral, physical, and medical problems, which are managed through supportive treatment, often incorporating psychopharmacology to ameliorate limiting behaviors. Specific patterns of cognitive, language, and adaptive strengths and weaknesses are typically present and can be used to tailor educational and therapeutic programming to the needs of the individual with FXS. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model and to early clinical trials of targeted treatments in humans with FXS. Thus, translational strategies in FXS may serve as models for ASD and other cognitive disorders. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00020-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Fragile X Syndrome [Texte imprimé et/ou numérique] / Anne HOFFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - 2016 . - p.325-346. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  FMR1  FMRP  Fragile X syndrome  Intellectual disability Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Fragile X syndrome (FXS) is recognized as the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASDs), with many overlapping phenotypic features. Fragile X syndrome is caused by absence or reduction of expression of the fragile X mental retardation protein and is associated with a variety of behavioral, physical, and medical problems, which are managed through supportive treatment, often incorporating psychopharmacology to ameliorate limiting behaviors. Specific patterns of cognitive, language, and adaptive strengths and weaknesses are typically present and can be used to tailor educational and therapeutic programming to the needs of the individual with FXS. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model and to early clinical trials of targeted treatments in humans with FXS. Thus, translational strategies in FXS may serve as models for ASD and other cognitive disorders. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00020-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

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Acoustic properties of early vocalizations in infants with fragile X syndrome / L. R. HAMRICK in Autism Research, 12-11 (November 2019)  

Public ISBD [article]  inAutism Research > 12-11 (November 2019) . - p.1663-1679 Titre : Acoustic properties of early vocalizations in infants with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. R. HAMRICK, Auteur ; A. SEIDL, Auteur ; B. L. TONNSEN, Auteur Article en page(s) : p.1663-1679 Langues : Anglais (eng) Mots-clés : acoustics  autism spectrum disorder  canonical babbling  fragile X syndrome  pitch  vocalization duration  volubility Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neurogenetic syndrome characterized by cognitive impairments and high rates of autism spectrum disorder (ASD). FXS is often highlighted as a model for exploring pathways of symptom expression in ASD due to the high prevalence of ASD symptoms in this population and the known single-gene cause of FXS. Early vocalization features-including volubility, complexity, duration, and pitch-have shown promise in detecting ASD in idiopathic ASD populations but have yet to be extensively studied in a population with a known genetic cause for ASD such as FXS. Investigating early trajectories of these features in FXS may inform our limited knowledge of potential mechanisms that predict later social communication outcomes. The present study addresses this need by presenting preliminary findings which (a) characterize early vocalization features in FXS relative to low-risk controls (LRC) and (b) test the specificity of associations between these features and language and ASD outcomes. We coded vocalization features during a standardized child-examiner interaction for 39 nine-month-olds (22 FXS, 17 LRC) whose clinical outcomes were assessed at 24 months. Our results provide preliminary evidence that within FXS, associations between vocalization features and 24-month language outcomes may diverge from those observed in LRC, and that vocalization features may be associated with later ASD symptoms. These findings provide a starting point for more research exploring these features as potential early markers of ASD in FXS, which in turn may lead to improved early identification methods, treatment approaches, and overall well-being of individuals with ASD. Autism Res2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Although vocal features of 9-month-olds with FXS did not differ from those of low-risk controls, several features were associated with later language and ASD outcomes at 24 months in FXS. These preliminary results suggest acoustic data may be related to clinical outcomes in FXS and potentially other high-risk populations. Further characterizing these associations may facilitate understanding of biological mechanisms and risk factors associated with social communication development and ASD. En ligne : http://dx.doi.org/10.1002/aur.2176 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412 [article] Acoustic properties of early vocalizations in infants with fragile X syndrome [Texte imprimé et/ou numérique] / L. R. HAMRICK, Auteur ; A. SEIDL, Auteur ; B. L. TONNSEN, Auteur . - p.1663-1679. Langues : Anglais (eng) in Autism Research > 12-11 (November 2019) . - p.1663-1679 Mots-clés : acoustics  autism spectrum disorder  canonical babbling  fragile X syndrome  pitch  vocalization duration  volubility Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neurogenetic syndrome characterized by cognitive impairments and high rates of autism spectrum disorder (ASD). FXS is often highlighted as a model for exploring pathways of symptom expression in ASD due to the high prevalence of ASD symptoms in this population and the known single-gene cause of FXS. Early vocalization features-including volubility, complexity, duration, and pitch-have shown promise in detecting ASD in idiopathic ASD populations but have yet to be extensively studied in a population with a known genetic cause for ASD such as FXS. Investigating early trajectories of these features in FXS may inform our limited knowledge of potential mechanisms that predict later social communication outcomes. The present study addresses this need by presenting preliminary findings which (a) characterize early vocalization features in FXS relative to low-risk controls (LRC) and (b) test the specificity of associations between these features and language and ASD outcomes. We coded vocalization features during a standardized child-examiner interaction for 39 nine-month-olds (22 FXS, 17 LRC) whose clinical outcomes were assessed at 24 months. Our results provide preliminary evidence that within FXS, associations between vocalization features and 24-month language outcomes may diverge from those observed in LRC, and that vocalization features may be associated with later ASD symptoms. These findings provide a starting point for more research exploring these features as potential early markers of ASD in FXS, which in turn may lead to improved early identification methods, treatment approaches, and overall well-being of individuals with ASD. Autism Res2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Although vocal features of 9-month-olds with FXS did not differ from those of low-risk controls, several features were associated with later language and ASD outcomes at 24 months in FXS. These preliminary results suggest acoustic data may be related to clinical outcomes in FXS and potentially other high-risk populations. Further characterizing these associations may facilitate understanding of biological mechanisms and risk factors associated with social communication development and ASD. En ligne : http://dx.doi.org/10.1002/aur.2176 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412

An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome / Paul LANGTHORNE in Journal of Autism and Developmental Disorders, 42-2 (February 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-2 (February 2012) . - p.201-209 Titre : An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Paul LANGTHORNE, Auteur ; Peter MCGILL, Auteur Année de publication : 2012 Article en page(s) : p.201-209 Langues : Anglais (eng) Mots-clés : Functional assessment  Problem behavior  Fragile X syndrome  Smith-Magenis syndrome Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups. Using the Questions About Behavioral Function scale Matson and Vollmer (User’s guide: questions about behavioral function (QABF). Scientific Publishers Inc., Baton Rouge, LA, 1995) the current study examined group differences in the function of problem behavior displayed by children with FXS and SMS, in comparison to a control group of children with non-specific intellectual and developmental disabilities. Between-group analyses showed children with SMS were more likely to display problem behavior related to physical discomfort. Both within- and between-group analyses showed children with FXS were less likely to display attention-maintained problem behavior. These findings hold implications for the assessment, treatment and prevention of problem behavior associated with both FXS and SMS. En ligne : http://dx.doi.org/10.1007/s10803-011-1229-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151 [article] An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome [Texte imprimé et/ou numérique] / Paul LANGTHORNE, Auteur ; Peter MCGILL, Auteur . - 2012 . - p.201-209. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-2 (February 2012) . - p.201-209 Mots-clés : Functional assessment  Problem behavior  Fragile X syndrome  Smith-Magenis syndrome Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups. Using the Questions About Behavioral Function scale Matson and Vollmer (User’s guide: questions about behavioral function (QABF). Scientific Publishers Inc., Baton Rouge, LA, 1995) the current study examined group differences in the function of problem behavior displayed by children with FXS and SMS, in comparison to a control group of children with non-specific intellectual and developmental disabilities. Between-group analyses showed children with SMS were more likely to display problem behavior related to physical discomfort. Both within- and between-group analyses showed children with FXS were less likely to display attention-maintained problem behavior. These findings hold implications for the assessment, treatment and prevention of problem behavior associated with both FXS and SMS. En ligne : http://dx.doi.org/10.1007/s10803-011-1229-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151

Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases / Julie GAUDISSARD in Autism Research, 10-10 (October 2017)  

Public ISBD [article]  inAutism Research > 10-10 (October 2017) . - p.1584-1596 Titre : Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases Type de document : Texte imprimé et/ou numérique Auteurs : Julie GAUDISSARD, Auteur ; Melanie GINGER, Auteur ; Marika PREMOLI, Auteur ; Maurizio MEMO, Auteur ; Andreas FRICK, Auteur ; Susanna PIETROPAOLO, Auteur Article en page(s) : p.1584-1596 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  autism  development  adolescence  social interaction  anxiety  cognition Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a developmental disorder caused by a mutation in the X-linked FMR1 gene, coding for the FMRP protein which is largely involved in synaptic function. FXS patients present several behavioral abnormalities, including hyperactivity, anxiety, sensory hyper-responsiveness, and cognitive deficits. Autistic symptoms, e.g., altered social interaction and communication, are also often observed: FXS is indeed the most common monogenic cause of autism. Mouse models of FXS are therefore of great interest for research on both FXS and autistic pathologies. The Fmr1-KO2 mouse line is the most recent FXS model, widely used for brain studies; surprisingly, little is known about the face validity of this model, i.e., its FXS-like behavioral phenotype. Furthermore, no data are available for the age-related expression of the pathological phenotypes in this mouse line, a critical issue for modelling neurodevelopmental disorders. Here we performed an extensive behavioral characterization of the KO2 model at infancy, adolescent and adult ages. Hyperactivity, altered emotionality, sensory hyper-responsiveness and memory deficits were already present in KO mice at adolescence and remained evident at adulthood. Alterations in social behaviors were instead observed only in young KO animals: during the first 2 weeks of life, KOs emitted longer ultrasonic vocalizations compared to their WT littermates and as adolescents they displayed more aggressive behaviors towards a conspecific. These results strongly support the face validity of the KO2 mouse as a model for FXS, at the same time demonstrating that its ability to recapitulate social autistic-relevant phenotypes depends on early testing ages. Autism Res 2017, 10: 1584–1596. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1814 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322 [article] Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases [Texte imprimé et/ou numérique] / Julie GAUDISSARD, Auteur ; Melanie GINGER, Auteur ; Marika PREMOLI, Auteur ; Maurizio MEMO, Auteur ; Andreas FRICK, Auteur ; Susanna PIETROPAOLO, Auteur . - p.1584-1596. Langues : Anglais (eng) in Autism Research > 10-10 (October 2017) . - p.1584-1596 Mots-clés : Fragile X syndrome  autism  development  adolescence  social interaction  anxiety  cognition Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a developmental disorder caused by a mutation in the X-linked FMR1 gene, coding for the FMRP protein which is largely involved in synaptic function. FXS patients present several behavioral abnormalities, including hyperactivity, anxiety, sensory hyper-responsiveness, and cognitive deficits. Autistic symptoms, e.g., altered social interaction and communication, are also often observed: FXS is indeed the most common monogenic cause of autism. Mouse models of FXS are therefore of great interest for research on both FXS and autistic pathologies. The Fmr1-KO2 mouse line is the most recent FXS model, widely used for brain studies; surprisingly, little is known about the face validity of this model, i.e., its FXS-like behavioral phenotype. Furthermore, no data are available for the age-related expression of the pathological phenotypes in this mouse line, a critical issue for modelling neurodevelopmental disorders. Here we performed an extensive behavioral characterization of the KO2 model at infancy, adolescent and adult ages. Hyperactivity, altered emotionality, sensory hyper-responsiveness and memory deficits were already present in KO mice at adolescence and remained evident at adulthood. Alterations in social behaviors were instead observed only in young KO animals: during the first 2 weeks of life, KOs emitted longer ultrasonic vocalizations compared to their WT littermates and as adolescents they displayed more aggressive behaviors towards a conspecific. These results strongly support the face validity of the KO2 mouse as a model for FXS, at the same time demonstrating that its ability to recapitulate social autistic-relevant phenotypes depends on early testing ages. Autism Res 2017, 10: 1584–1596. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1814 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization / L. CORDEIRO in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.57-67 Titre : Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization Type de document : Texte imprimé et/ou numérique Auteurs : L. CORDEIRO, Auteur ; Elizabeth C. BALLINGER, Auteur ; Randi J. HAGERMAN, Auteur ; D. HESSL, Auteur Article en page(s) : p.57-67 Langues : Anglais (eng) Mots-clés : Anxiety  Fragile X syndrome  Intellectual disability  Social phobia  Specific phobia Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disorders in a sample of 58 males and 39 females with FXS (ages 5.0-33.3 years). Participants' parents completed the Anxiety Disorders Interview Schedule (ADIS-IV), a clinical interview based on DSM-IV criteria, and the Anxiety Depression and Mood Scale (ADAMS), a psychiatric disorders screening instrument normed in ID. We conducted cognitive (IQ) and autism (AUT) assessments and surveyed medication use. Despite a high rate of psychopharmacological treatment, 86.2% of males and 76.9% of females met criteria for an anxiety disorder, with social phobia and specific phobia the most commonly diagnosed. Proband status, gender, and IQ were not significantly related to any anxiety disorders, however significantly higher rates of a few anxiety disorders were found in older age and AUT groups. Significant correlations between ADIS diagnoses and ADAMS scores provided cross-validation of instruments, indicating that the ADIS is suitable for use in FXS. A greater percentage of our sample met criteria for most anxiety disorders than has been reported in other ID groups or the general population. The rate of anxiety compared to general ID suggests that the FMR1 full mutation confers an especially high risk for these disorders, regardless of factors commonly associated with FXS clinical involvement. A thorough clinical assessment and treatment of anxiety should be included in the FXS standard of care. En ligne : http://dx.doi.org/10.1007/s11689-010-9067-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization [Texte imprimé et/ou numérique] / L. CORDEIRO, Auteur ; Elizabeth C. BALLINGER, Auteur ; Randi J. HAGERMAN, Auteur ; D. HESSL, Auteur . - p.57-67. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.57-67 Mots-clés : Anxiety  Fragile X syndrome  Intellectual disability  Social phobia  Specific phobia Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disorders in a sample of 58 males and 39 females with FXS (ages 5.0-33.3 years). Participants' parents completed the Anxiety Disorders Interview Schedule (ADIS-IV), a clinical interview based on DSM-IV criteria, and the Anxiety Depression and Mood Scale (ADAMS), a psychiatric disorders screening instrument normed in ID. We conducted cognitive (IQ) and autism (AUT) assessments and surveyed medication use. Despite a high rate of psychopharmacological treatment, 86.2% of males and 76.9% of females met criteria for an anxiety disorder, with social phobia and specific phobia the most commonly diagnosed. Proband status, gender, and IQ were not significantly related to any anxiety disorders, however significantly higher rates of a few anxiety disorders were found in older age and AUT groups. Significant correlations between ADIS diagnoses and ADAMS scores provided cross-validation of instruments, indicating that the ADIS is suitable for use in FXS. A greater percentage of our sample met criteria for most anxiety disorders than has been reported in other ID groups or the general population. The rate of anxiety compared to general ID suggests that the FMR1 full mutation confers an especially high risk for these disorders, regardless of factors commonly associated with FXS clinical involvement. A thorough clinical assessment and treatment of anxiety should be included in the FXS standard of care. En ligne : http://dx.doi.org/10.1007/s11689-010-9067-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

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

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The neural basis of auditory temporal discrimination in girls with fragile X syndrome / S. S. HALL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

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Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome / Tracey A. WILLIAMS in Journal of Autism and Developmental Disorders, 43-8 (August 2013)  

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Altered frontal connectivity as a mechanism for executive function deficits in fragile X syndrome / Lauren M. SCHMITT in Molecular Autism, 13 (2022)  

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Brief Report: Linguistic Mazes and Perseverations in School-Age Boys with Fragile X Syndrome and Autism Spectrum Disorder and Relationships with Maternal Maze Use / N. MALTMAN in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

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