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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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2 / Sharon A. KIDD in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3276-3295 Titre : Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2 Type de document : Texte imprimé et/ou numérique Auteurs : Sharon A. KIDD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Tse-Hwei CHOO, Auteur ; Chen CHEN, Auteur ; Amy ESLER, Auteur ; Anne HOFFMANN, Auteur ; Howard F. ANDREWS, Auteur ; Walter E. KAUFMANN, Auteur Article en page(s) : p.3276-3295 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Exploratory factor analysis  Fragile X syndrome  Receiver operating characteristic curves  Social Communication Questionnaire  Social Responsiveness Scale-2 Index. décimale : PER Périodiques Résumé : We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face validity items for FXS; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures; an exploratory factor analysis to outline subscales better representing ASD in FXS; and creation of a "triple criteria" diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-04148-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2 [Texte imprimé et/ou numérique] / Sharon A. KIDD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Tse-Hwei CHOO, Auteur ; Chen CHEN, Auteur ; Amy ESLER, Auteur ; Anne HOFFMANN, Auteur ; Howard F. ANDREWS, Auteur ; Walter E. KAUFMANN, Auteur . - p.3276-3295. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3276-3295 Mots-clés : Autism spectrum disorder  Exploratory factor analysis  Fragile X syndrome  Receiver operating characteristic curves  Social Communication Questionnaire  Social Responsiveness Scale-2 Index. décimale : PER Périodiques Résumé : We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face validity items for FXS; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures; an exploratory factor analysis to outline subscales better representing ASD in FXS; and creation of a "triple criteria" diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-04148-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

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