Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity Type de document : texte imprimé Auteurs : Leonard ABBEDUTO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Audra STERLING, Auteur ; Stephanie SHERMAN, Auteur ; Jamie O. EDGIN, Auteur ; Andrea MCDUFFIE, Auteur ; Anne HOFFMANN, Auteur ; Debra HAMILTON, Auteur ; Michael NELSON, Auteur ; Jeannie ASCHKENASY, Auteur ; Angela John THURMAN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. En ligne : https://dx.doi.org/10.1186/s11689-020-09314-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity [texte imprimé] / Leonard ABBEDUTO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Audra STERLING, Auteur ; Stephanie SHERMAN, Auteur ; Jamie O. EDGIN, Auteur ; Andrea MCDUFFIE, Auteur ; Anne HOFFMANN, Auteur ; Debra HAMILTON, Auteur ; Michael NELSON, Auteur ; Jeannie ASCHKENASY, Auteur ; Angela John THURMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Index. décimale : PER Périodiques Résumé : In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. En ligne : https://dx.doi.org/10.1186/s11689-020-09314-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity Type de document : texte imprimé Auteurs : Leonard ABBEDUTO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Audra STERLING, Auteur ; Stephanie SHERMAN, Auteur ; Jamie O. EDGIN, Auteur ; Andrea MCDUFFIE, Auteur ; Anne HOFFMANN, Auteur ; Debra HAMILTON, Auteur ; Michael NELSON, Auteur ; Jeannie ASCHKENASY, Auteur ; Angela John THURMAN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Autistic Disorder/diagnosis  Child  Feasibility Studies  Female  Fragile X Syndrome/therapy  Humans  Language Tests/statistics & numerical data  Male  Outcome Assessment, Health Care  Psychometrics  Reproducibility of Results  Young Adult  Clinical trials  Expressive language  Fragile X syndrome  Outcome measures  treatment  Pharmaceuticals Ltd., Fulcrum Therapeutics, and Lumind to consult on and  implement outcome measures in clinical trials for FXS and Down syndrome. EBK has  received funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren,  Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Lumos, Ovid, AMO,  Yamo, Ionis, GeneTx, Acadia, Neurogene, Ultragenyx, and  Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to consult on trial design or  development strategies and/or conduct clinical trials in FXS or other genetic  Neurodevelopmental or neurodegenerative disorders, and from Asuragen Inc. to  develop testing standards for FMR1 testing. AJT has received funding from Fulcrum  Therapeutics to develop outcome measures for FXS. The other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure for generating outcome measures for treatment research in FXS. We addressed: (a) feasibility, (b) practice effects over two administrations, (c) test-retest reliability over the repeated administrations, and (d) construct validity. We addressed these issues for the full sample as well as for subgroups defined by age, IQ, and ASD status. METHODS: Participants were 106 individuals with FXS between ages 6 and 23 years who had IQs within the range of intellectual disability (IQ < 70). ELS procedures for collecting samples in conversation and narration were followed and analyzed separately. Five measures were derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers): number of C-units per minute (talkativeness), number of different word roots (vocabulary), C-unit length in morphemes (syntax), percentage of C-units containing dysfluency (utterance planning), and percentage of C-units that were fully or partly unintelligible (articulatory quality). ELS procedures were administered twice at 4-week intervals for each participant. Standardized tests and informant reports were administered and provided measures for evaluating construct validity of ELS measures. RESULTS: We found low rates of noncompliance, suggesting the task can be completed meaningfully by most individuals with FXS, although noncompliance was higher for younger, lower IQ, and more autistic participants. Minimal practice effects and strong test-retest reliability over the 4-week interval were observed for the full sample and across the range of ages, IQs, and autism symptom severity. Evidence of convergent construct validity was observed for the measures of vocabulary, syntax, and unintelligibility for the full sample and across the range of IQ and autism symptom severity, but not for participants under age 12. Conversation and narration yielded largely similar results in all analyses. CONCLUSIONS: The findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23 years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12. En ligne : https://dx.doi.org/10.1186/s11689-020-09313-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity [texte imprimé] / Leonard ABBEDUTO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Audra STERLING, Auteur ; Stephanie SHERMAN, Auteur ; Jamie O. EDGIN, Auteur ; Andrea MCDUFFIE, Auteur ; Anne HOFFMANN, Auteur ; Debra HAMILTON, Auteur ; Michael NELSON, Auteur ; Jeannie ASCHKENASY, Auteur ; Angela John THURMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Adolescent  Autistic Disorder/diagnosis  Child  Feasibility Studies  Female  Fragile X Syndrome/therapy  Humans  Language Tests/statistics & numerical data  Male  Outcome Assessment, Health Care  Psychometrics  Reproducibility of Results  Young Adult  Clinical trials  Expressive language  Fragile X syndrome  Outcome measures  treatment  Pharmaceuticals Ltd., Fulcrum Therapeutics, and Lumind to consult on and  implement outcome measures in clinical trials for FXS and Down syndrome. EBK has  received funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren,  Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Lumos, Ovid, AMO,  Yamo, Ionis, GeneTx, Acadia, Neurogene, Ultragenyx, and  Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to consult on trial design or  development strategies and/or conduct clinical trials in FXS or other genetic  Neurodevelopmental or neurodegenerative disorders, and from Asuragen Inc. to  develop testing standards for FMR1 testing. AJT has received funding from Fulcrum  Therapeutics to develop outcome measures for FXS. The other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure for generating outcome measures for treatment research in FXS. We addressed: (a) feasibility, (b) practice effects over two administrations, (c) test-retest reliability over the repeated administrations, and (d) construct validity. We addressed these issues for the full sample as well as for subgroups defined by age, IQ, and ASD status. METHODS: Participants were 106 individuals with FXS between ages 6 and 23 years who had IQs within the range of intellectual disability (IQ < 70). ELS procedures for collecting samples in conversation and narration were followed and analyzed separately. Five measures were derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers): number of C-units per minute (talkativeness), number of different word roots (vocabulary), C-unit length in morphemes (syntax), percentage of C-units containing dysfluency (utterance planning), and percentage of C-units that were fully or partly unintelligible (articulatory quality). ELS procedures were administered twice at 4-week intervals for each participant. Standardized tests and informant reports were administered and provided measures for evaluating construct validity of ELS measures. RESULTS: We found low rates of noncompliance, suggesting the task can be completed meaningfully by most individuals with FXS, although noncompliance was higher for younger, lower IQ, and more autistic participants. Minimal practice effects and strong test-retest reliability over the 4-week interval were observed for the full sample and across the range of ages, IQs, and autism symptom severity. Evidence of convergent construct validity was observed for the measures of vocabulary, syntax, and unintelligibility for the full sample and across the range of IQ and autism symptom severity, but not for participants under age 12. Conversation and narration yielded largely similar results in all analyses. CONCLUSIONS: The findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23 years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12. En ligne : https://dx.doi.org/10.1186/s11689-020-09313-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

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 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] / 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 Auteurs : Sharon A. KIDD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Tse-Hwei CHOO, Auteur ; Chen CHEN, Auteur ; Amy N. 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] / Sharon A. KIDD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Tse-Hwei CHOO, Auteur ; Chen CHEN, Auteur ; Amy N. 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

Vocabulary comprehension in adults with fragile X syndrome (FXS) / Anne HOFFMANN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 25 p. Titre : Vocabulary comprehension in adults with fragile X syndrome (FXS) Type de document : texte imprimé Auteurs : Anne HOFFMANN, Auteur ; Sue Ellen KRAUSE, Auteur ; Joanne WUU, Auteur ; Sue LEURGANS, Auteur ; Stephen GUTER, Auteur ; Sandra S. BLOCK, Auteur ; Jeff SALT, Auteur ; Edwin COOK, Auteur ; Dominick M. MAINO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Article en page(s) : 25 p. Langues : Anglais (eng) Mots-clés : Adults  Cognition  Comprehension  Fragile X syndrome  Language  Vocabulary Index. décimale : PER Périodiques Résumé : BACKGROUND: Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. METHODS: This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). RESULTS: Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. CONCLUSIONS: Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential. En ligne : https://dx.doi.org/10.1186/s11689-019-9285-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Vocabulary comprehension in adults with fragile X syndrome (FXS) [texte imprimé] / Anne HOFFMANN, Auteur ; Sue Ellen KRAUSE, Auteur ; Joanne WUU, Auteur ; Sue LEURGANS, Auteur ; Stephen GUTER, Auteur ; Sandra S. BLOCK, Auteur ; Jeff SALT, Auteur ; Edwin COOK, Auteur ; Dominick M. MAINO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - 25 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 25 p. Mots-clés : Adults  Cognition  Comprehension  Fragile X syndrome  Language  Vocabulary Index. décimale : PER Périodiques Résumé : BACKGROUND: Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. METHODS: This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). RESULTS: Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. CONCLUSIONS: Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential. En ligne : https://dx.doi.org/10.1186/s11689-019-9285-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

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