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

Age of diagnosis for children with chromosome 15q syndromes / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Age of diagnosis for children with chromosome 15q syndromes Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Age of diagnosis for children with chromosome 15q syndromes [texte imprimé] / Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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)  

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Developmental milestones and daily living skills in individuals with Angelman syndrome / Anjali SADHWANI in Journal of Neurodevelopmental Disorders, 16 (2024)  

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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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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) / Jorrit TJEERTES in Journal of Neurodevelopmental Disorders, 15 (2023)  

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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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