Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition / Angela GWALTNEY in Journal of Autism and Developmental Disorders, 54-10 (October 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-10 (October 2024) . - p.3863-3887 Titre : Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition Type de document : texte imprimé Auteurs : Angela GWALTNEY, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur ; Anjali SADHWANI, Auteur ; Anne WHEELER, Auteur Article en page(s) : p.3863-3887 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains. En ligne : https://doi.org/10.1007/s10803-023-06090-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536 [article] Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition [texte imprimé] / Angela GWALTNEY, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur ; Anjali SADHWANI, Auteur ; Anne WHEELER, Auteur . - p.3863-3887. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-10 (October 2024) . - p.3863-3887 Index. décimale : PER Périodiques Résumé : In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains. En ligne : https://doi.org/10.1007/s10803-023-06090-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536

Associated features in females with an FMR1 premutation / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Titre : Associated features in females with an FMR1 premutation Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Jan S. GREENBERG, Auteur ; Molly LOSH, Auteur ; Marsha R. MAILICK, Auteur ; M. MILA, Auteur ; John M. OLICHNEY, Auteur ; Laia RODRIGUEZ-REVENGA, Auteur ; Stephanie SHERMAN, Auteur ; Leann SMITH, Auteur ; Scott SUMMERS, Auteur ; Jin-Chen YANG, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Associated features in females with an FMR1 premutation [texte imprimé] / Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Jan S. GREENBERG, Auteur ; Molly LOSH, Auteur ; Marsha R. MAILICK, Auteur ; M. MILA, Auteur ; John M. OLICHNEY, Auteur ; Laia RODRIGUEZ-REVENGA, Auteur ; Stephanie SHERMAN, Auteur ; Leann SMITH, Auteur ; Scott SUMMERS, Auteur ; Jin-Chen YANG, Auteur ; Randi J. HAGERMAN, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis / Sigan L. HARTLEY in Journal of Autism and Developmental Disorders, 45-11 (November 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3668-3679 Titre : Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis Type de document : texte imprimé Auteurs : Sigan L. HARTLEY, Auteur ; Anne C. WHEELER, Auteur ; Marsha R. MAILICK, Auteur ; Melissa RASPA, Auteur ; Iulia MIHAILA, Auteur ; Ellen BISHOP, Auteur ; Donald B. Jr BAILEY, Auteur Article en page(s) : p.3668-3679 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  Autism  DSM  Adult  Aging Index. décimale : PER Périodiques Résumé : A cross-sectional analysis was used to examine age-related differences in ASD symptoms and corresponding differences in disruptive behavior and social skills in 281 adult men with fragile X syndrome. Four age groups were created: 18–21, 22–29, 30–39, and 40–49 years. The 18–21 year-old group was reported to have more impairments in verbal communication than the 22–29 year-old group and more restricted and repetitive behaviors than the 40–49 year-old group. There was not an age-group difference in the percentage of men who met criteria for an ASD diagnosis based on respondent-reported, current symptoms. There was a trend for an age-related difference in disruptive behavior. Findings add to understanding of the developmental trajectory of ASD symptoms in adulthood. En ligne : http://dx.doi.org/10.1007/s10803-015-2513-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 [article] Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis [texte imprimé] / Sigan L. HARTLEY, Auteur ; Anne C. WHEELER, Auteur ; Marsha R. MAILICK, Auteur ; Melissa RASPA, Auteur ; Iulia MIHAILA, Auteur ; Ellen BISHOP, Auteur ; Donald B. Jr BAILEY, Auteur . - p.3668-3679. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3668-3679 Mots-clés : Fragile X syndrome  Autism  DSM  Adult  Aging Index. décimale : PER Périodiques Résumé : A cross-sectional analysis was used to examine age-related differences in ASD symptoms and corresponding differences in disruptive behavior and social skills in 281 adult men with fragile X syndrome. Four age groups were created: 18–21, 22–29, 30–39, and 40–49 years. The 18–21 year-old group was reported to have more impairments in verbal communication than the 22–29 year-old group and more restricted and repetitive behaviors than the 40–49 year-old group. There was not an age-group difference in the percentage of men who met criteria for an ASD diagnosis based on respondent-reported, current symptoms. There was a trend for an age-related difference in disruptive behavior. Findings add to understanding of the developmental trajectory of ASD symptoms in adulthood. En ligne : http://dx.doi.org/10.1007/s10803-015-2513-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270

Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities / Kristin H. GILCHRIST in Journal of Autism and Developmental Disorders, 48-5 (May 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1458-1466 Titre : Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities Type de document : texte imprimé Auteurs : Kristin H. GILCHRIST, Auteur ; Meghan HEGARTY-CRAVER, Auteur ; Rob B. CHRISTIAN, Auteur ; Sonia GREGO, Auteur ; Ashley C. KIES, Auteur ; Anne C. WHEELER, Auteur Article en page(s) : p.1458-1466 Langues : Anglais (eng) Mots-clés : Accelerometer  Activity recognition  Motor stereotypy  Neurodevelopmental disorders  Repetitive behaviors  Wearable sensor Index. décimale : PER Périodiques Résumé : Repetitive sensory motor behaviors are a direct target for clinical treatment and a potential treatment endpoint for individuals with intellectual or developmental disabilities. By removing the burden associated with video annotation or direct observation, automated detection of stereotypy would allow for longer term monitoring in ecologic settings. We report automated detection of common stereotypical motor movements using commercially available accelerometers affixed to the body and a generalizable detection algorithm. The method achieved a sensitivity of 80% for body rocking and 93% for hand flapping without individualized algorithm training or foreknowledge of subject's specific movements. This approach is well-suited for implementation in a continuous monitoring system outside of a clinical setting. En ligne : http://dx.doi.org/10.1007/s10803-017-3408-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355 [article] Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities [texte imprimé] / Kristin H. GILCHRIST, Auteur ; Meghan HEGARTY-CRAVER, Auteur ; Rob B. CHRISTIAN, Auteur ; Sonia GREGO, Auteur ; Ashley C. KIES, Auteur ; Anne C. WHEELER, Auteur . - p.1458-1466. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1458-1466 Mots-clés : Accelerometer  Activity recognition  Motor stereotypy  Neurodevelopmental disorders  Repetitive behaviors  Wearable sensor Index. décimale : PER Périodiques Résumé : Repetitive sensory motor behaviors are a direct target for clinical treatment and a potential treatment endpoint for individuals with intellectual or developmental disabilities. By removing the burden associated with video annotation or direct observation, automated detection of stereotypy would allow for longer term monitoring in ecologic settings. We report automated detection of common stereotypical motor movements using commercially available accelerometers affixed to the body and a generalizable detection algorithm. The method achieved a sensitivity of 80% for body rocking and 93% for hand flapping without individualized algorithm training or foreknowledge of subject's specific movements. This approach is well-suited for implementation in a continuous monitoring system outside of a clinical setting. En ligne : http://dx.doi.org/10.1007/s10803-017-3408-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355

Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome / Anne C. WHEELER in Journal of Autism and Developmental Disorders, 50-5 (May 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-5 (May 2020) . - p.1725-1747 Titre : Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Amanda WYLIE, Auteur ; Melissa RASPA, Auteur ; Adrienne VILLAGOMEZ, Auteur ; Kylee MILLER, Auteur ; Anne EDWARDS, Auteur ; Margaret L. DERAMUS, Auteur ; Paul S. APPELBAUM, Auteur ; Donald B. Jr BAILEY, Auteur Article en page(s) : p.1725-1747 Langues : Anglais (eng) Mots-clés : Clinical trials  Decisional capacity  Fragile X syndrome  Informed consent Index. décimale : PER Périodiques Résumé : Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants were 152 adolescents and adults (80 males, 72 females) with FXS who completed a measure of decisional capacity and a comprehensive battery of neurocognitive and psychiatric measures. Females outperformed males on all aspects of decisional capacity. The ability to understand aspects of the clinical trial had the strongest association with the ability to appreciate and reason about the decision. Scaffolding improved understanding, suggesting researchers can take steps to improve decisional capacity and the informed consent process. En ligne : http://dx.doi.org/10.1007/s10803-019-03930-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422 [article] Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome [texte imprimé] / Anne C. WHEELER, Auteur ; Amanda WYLIE, Auteur ; Melissa RASPA, Auteur ; Adrienne VILLAGOMEZ, Auteur ; Kylee MILLER, Auteur ; Anne EDWARDS, Auteur ; Margaret L. DERAMUS, Auteur ; Paul S. APPELBAUM, Auteur ; Donald B. Jr BAILEY, Auteur . - p.1725-1747. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-5 (May 2020) . - p.1725-1747 Mots-clés : Clinical trials  Decisional capacity  Fragile X syndrome  Informed consent Index. décimale : PER Périodiques Résumé : Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants were 152 adolescents and adults (80 males, 72 females) with FXS who completed a measure of decisional capacity and a comprehensive battery of neurocognitive and psychiatric measures. Females outperformed males on all aspects of decisional capacity. The ability to understand aspects of the clinical trial had the strongest association with the ability to appreciate and reason about the decision. Scaffolding improved understanding, suggesting researchers can take steps to improve decisional capacity and the informed consent process. En ligne : http://dx.doi.org/10.1007/s10803-019-03930-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422

Developmental profiles of infants with an FMR1 premutation / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III / Anne WHEELER ; Angela GWALTNEY ; Sarika U. PETERS ; Rene L. BARBIERI-WELGE ; Lucia T. HOROWITZ ; Lisa M. NOLL ; Rachel J. HUNDLEY ; Lynne M. BIRD ; Wen-Hann TAN in Journal of Autism and Developmental Disorders, 53-2 (February 2023)  

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DSM-5 Changes and the Prevalence of Parent-Reported Autism Spectrum Symptoms in Fragile X Syndrome / Anne C. WHEELER in Journal of Autism and Developmental Disorders, 45-3 (March 2015)  

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Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study / Donald B. Jr BAILEY in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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