Brief Report: Assessment Experiences of Children with Neurogenetic Syndromes: Caregivers' Perceptions and Suggestions for Improvement / Bridgette KELLEHER in Journal of Autism and Developmental Disorders, 50-4 (April 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-4 (April 2020) . - p.1443-1450 Titre : Brief Report: Assessment Experiences of Children with Neurogenetic Syndromes: Caregivers' Perceptions and Suggestions for Improvement Type de document : texte imprimé Auteurs : Bridgette KELLEHER, Auteur ; Taylor HALLIGAN, Auteur ; Tessa GARWOOD, Auteur ; Samantha HOWELL, Auteur ; Breanna MARTIN-O'DELL, Auteur ; Amber SWINT, Auteur ; Liberty-Ann SHELTON, Auteur ; Joey SHIN, Auteur Article en page(s) : p.1443-1450 Langues : Anglais (eng) Mots-clés : Autism  Caregivers  Clinical assessment  Neurogenetic syndromes  Outcome measures Index. décimale : PER Périodiques Résumé : It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol https://doi.org/10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to date, these concerns have not been summarized into actionable steps for clinicians and test-makers. As such, we used a mixed methods approach to assess caregiver-derived perceptions and suggestions for improving assessments in NGS. Results indicated many shared challenges and suggestions for improvement, particularly in the domains of testing procedures and examiner communication. Integrating these suggestions into future protocols is an important next step toward improving the quality of assessment procedures for children with NGS and their families across both clinical and research contexts. En ligne : http://dx.doi.org/10.1007/s10803-020-04363-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 [article] Brief Report: Assessment Experiences of Children with Neurogenetic Syndromes: Caregivers' Perceptions and Suggestions for Improvement [texte imprimé] / Bridgette KELLEHER, Auteur ; Taylor HALLIGAN, Auteur ; Tessa GARWOOD, Auteur ; Samantha HOWELL, Auteur ; Breanna MARTIN-O'DELL, Auteur ; Amber SWINT, Auteur ; Liberty-Ann SHELTON, Auteur ; Joey SHIN, Auteur . - p.1443-1450. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-4 (April 2020) . - p.1443-1450 Mots-clés : Autism  Caregivers  Clinical assessment  Neurogenetic syndromes  Outcome measures Index. décimale : PER Périodiques Résumé : It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol https://doi.org/10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to date, these concerns have not been summarized into actionable steps for clinicians and test-makers. As such, we used a mixed methods approach to assess caregiver-derived perceptions and suggestions for improving assessments in NGS. Results indicated many shared challenges and suggestions for improvement, particularly in the domains of testing procedures and examiner communication. Integrating these suggestions into future protocols is an important next step toward improving the quality of assessment procedures for children with NGS and their families across both clinical and research contexts. En ligne : http://dx.doi.org/10.1007/s10803-020-04363-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421

Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism / Carla A. WALL in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 22 p. Titre : Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism Type de document : texte imprimé Auteurs : Carla A. WALL, Auteur ; Abigail L. HOGAN-BROWN, Auteur ; Elizabeth A. WILL, Auteur ; Samuel MCQUILLIN, Auteur ; Bridgette L. KELLEHER, Auteur ; Jane E. ROBERTS, Auteur Article en page(s) : 22 p. Langues : Anglais (eng) Mots-clés : Anxiety  Autism spectrum disorder  Fragile X syndrome  Negative affect  Sex differences Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. METHODS: The present prospective longitudinal study examined the trajectory of negative affect from infancy through preschool in males and females with FXS and typical development and its relation to anxiety and ASD. RESULTS: Results indicate a complex association reflecting group, developmental, and sex effects. Specifically, the group with FXS displayed a trajectory of increasing negative affect across age that was distinct from the typical controls. This atypical trajectory of negative affect in FXS was driven by sex effects in that males showed lower negative affect during infancy followed by steep increases across the toddler and preschool years whereas the females displayed a flatter trajectory. Finally, elevated negative affect predicted anxiety symptoms in males, but not females, with no relationship to ASD in males or females with FXS. CONCLUSIONS: The current work addresses the importance of studying the development of psychopathology in a specific neurogenetic population. Temperamental negative affect was shown to be an important early marker for anxiety in young children with FXS, with subtle differences observed between males and females. En ligne : https://dx.doi.org/10.1186/s11689-019-9284-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism [texte imprimé] / Carla A. WALL, Auteur ; Abigail L. HOGAN-BROWN, Auteur ; Elizabeth A. WILL, Auteur ; Samuel MCQUILLIN, Auteur ; Bridgette L. KELLEHER, Auteur ; Jane E. ROBERTS, Auteur . - 22 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 22 p. Mots-clés : Anxiety  Autism spectrum disorder  Fragile X syndrome  Negative affect  Sex differences Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. METHODS: The present prospective longitudinal study examined the trajectory of negative affect from infancy through preschool in males and females with FXS and typical development and its relation to anxiety and ASD. RESULTS: Results indicate a complex association reflecting group, developmental, and sex effects. Specifically, the group with FXS displayed a trajectory of increasing negative affect across age that was distinct from the typical controls. This atypical trajectory of negative affect in FXS was driven by sex effects in that males showed lower negative affect during infancy followed by steep increases across the toddler and preschool years whereas the females displayed a flatter trajectory. Finally, elevated negative affect predicted anxiety symptoms in males, but not females, with no relationship to ASD in males or females with FXS. CONCLUSIONS: The current work addresses the importance of studying the development of psychopathology in a specific neurogenetic population. Temperamental negative affect was shown to be an important early marker for anxiety in young children with FXS, with subtle differences observed between males and females. En ligne : https://dx.doi.org/10.1186/s11689-019-9284-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Remote EEG acquisition in Angelman syndrome using PANDABox-EEG / Kimberly GÁLVEZ-ORTEGA in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Remote EEG acquisition in Angelman syndrome using PANDABox-EEG Type de document : texte imprimé Auteurs : Kimberly GÁLVEZ-ORTEGA, Auteur ; Roslyn HAROLD, Auteur ; Wei Siong NEO, Auteur ; Orlando S. HOILETT, Auteur ; Amanda M. BOROSH, Auteur ; Alexa FRIESEN-HAARER, Auteur ; Stephanie GOMBAS, Auteur ; Dan FOTI, Auteur ; Bridgette KELLEHER, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/physiopathology/diagnosis  Electroencephalography/methods/instrumentation  Male  Child  Female  Child, Preschool  Telemedicine  Adolescent  Caregivers  Adult  Reproducibility of Results  Angelman syndrome  Assessment  Delta  Eeg  Reliability  Telehealth Index. décimale : PER Périodiques Résumé : OBJECTIVE: We describe the development and validation of PANDABox-EEG, a novel protocol for remote EEG assessment with no on-site technician, tailored for Angelman syndrome (AS). We argue that this protocol is reliable, valid, and widely acceptable for use in families affected by Angelman syndrome. BACKGROUND: AS is a rare neurogenetic condition characterized by developmental delays, sleep problems, seizures, and a happy demeanor. People with AS are frequently monitored via EEG to inform clinical care, and EEG-measured delta activity has been proposed as a reliable biomarker to monitor treatment effectiveness. Traditional EEG assessments pose logistical and financial burdens for families due to the need to travel to a medical center to complete assessments. Telehealth methods, however, offer a pathway forward. METHODS: PANDABox-EEG was developed through multidisciplinary collaboration with psychologists, psychophysiologists, engineers, and special-education scholars, incorporating caregiver feedback and user-centered design principles. It pairs PANDABox, a telehealth platform for biobehavioral assessment in rare disorders, with a dry electrode EEG system. Twenty-eight participants (7 AS, 7 siblings, 14 caregivers) completed three 5-min EEG sessions each over the course of a week. Caregivers were asked to provide feedback on acceptability of the design, and EEG data was quantified and assessed for metrics of reliability and validity. RESULTS: PANDABox-EEG demonstrated high feasibility and acceptability, with 91% of caregivers reporting strong satisfaction assessment comfort. EEG data quality was promising, with high internal consistency (split-half reliability range for children with AS: r = .96-.98) and test-retest reliability for delta power among (test-retest reliability range for children with AS: ρ = .88-.96). Finally, we successfully detected the characteristic increased delta power in AS (effect size between AS and non-AS siblings: d = 1.56-2.85) and its association with age (effect size between non-AS siblings and caregivers: d = 2.19-2.72). CONCLUSION: PANDABox-EEG provides a feasible, cost-effective, and reliable method for remote EEG assessment in AS. Its high caregiver satisfaction and ability to capture relevant neurophysiological markers suggest potential for broader application. With further validation, PANDABox-EEG can enhance accessibility and inclusivity, benefiting clinical management and research in AS and other clinical populations in need of frequent EEG monitoring by eliminating the need to travel. En ligne : https://dx.doi.org/10.1186/s11689-025-09611-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Remote EEG acquisition in Angelman syndrome using PANDABox-EEG [texte imprimé] / Kimberly GÁLVEZ-ORTEGA, Auteur ; Roslyn HAROLD, Auteur ; Wei Siong NEO, Auteur ; Orlando S. HOILETT, Auteur ; Amanda M. BOROSH, Auteur ; Alexa FRIESEN-HAARER, Auteur ; Stephanie GOMBAS, Auteur ; Dan FOTI, Auteur ; Bridgette KELLEHER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Angelman Syndrome/physiopathology/diagnosis  Electroencephalography/methods/instrumentation  Male  Child  Female  Child, Preschool  Telemedicine  Adolescent  Caregivers  Adult  Reproducibility of Results  Angelman syndrome  Assessment  Delta  Eeg  Reliability  Telehealth Index. décimale : PER Périodiques Résumé : OBJECTIVE: We describe the development and validation of PANDABox-EEG, a novel protocol for remote EEG assessment with no on-site technician, tailored for Angelman syndrome (AS). We argue that this protocol is reliable, valid, and widely acceptable for use in families affected by Angelman syndrome. BACKGROUND: AS is a rare neurogenetic condition characterized by developmental delays, sleep problems, seizures, and a happy demeanor. People with AS are frequently monitored via EEG to inform clinical care, and EEG-measured delta activity has been proposed as a reliable biomarker to monitor treatment effectiveness. Traditional EEG assessments pose logistical and financial burdens for families due to the need to travel to a medical center to complete assessments. Telehealth methods, however, offer a pathway forward. METHODS: PANDABox-EEG was developed through multidisciplinary collaboration with psychologists, psychophysiologists, engineers, and special-education scholars, incorporating caregiver feedback and user-centered design principles. It pairs PANDABox, a telehealth platform for biobehavioral assessment in rare disorders, with a dry electrode EEG system. Twenty-eight participants (7 AS, 7 siblings, 14 caregivers) completed three 5-min EEG sessions each over the course of a week. Caregivers were asked to provide feedback on acceptability of the design, and EEG data was quantified and assessed for metrics of reliability and validity. RESULTS: PANDABox-EEG demonstrated high feasibility and acceptability, with 91% of caregivers reporting strong satisfaction assessment comfort. EEG data quality was promising, with high internal consistency (split-half reliability range for children with AS: r = .96-.98) and test-retest reliability for delta power among (test-retest reliability range for children with AS: ρ = .88-.96). Finally, we successfully detected the characteristic increased delta power in AS (effect size between AS and non-AS siblings: d = 1.56-2.85) and its association with age (effect size between non-AS siblings and caregivers: d = 2.19-2.72). CONCLUSION: PANDABox-EEG provides a feasible, cost-effective, and reliable method for remote EEG assessment in AS. Its high caregiver satisfaction and ability to capture relevant neurophysiological markers suggest potential for broader application. With further validation, PANDABox-EEG can enhance accessibility and inclusivity, benefiting clinical management and research in AS and other clinical populations in need of frequent EEG monitoring by eliminating the need to travel. En ligne : https://dx.doi.org/10.1186/s11689-025-09611-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations / Lisa R. HAMRICK in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations Type de document : texte imprimé Auteurs : Lisa R. HAMRICK, Auteur ; Alison M. HANEY, Auteur ; Bridgette L. KELLEHER, Auteur ; Sean P. LANE, Auteur Langues : Anglais (eng) Mots-clés : Analysis of Variance  Angelman Syndrome/psychology  Child, Preschool  Communication  Female  Generalization, Psychological  Humans  Infant  Longitudinal Studies  Male  Prader-Willi Syndrome/psychology  Psychometrics/standards  Reproducibility of Results  Risk  Williams Syndrome/psychology  Angelman  Communication and Symbolic Behavior Scales  Generalizability theory  Neurogenetic  Prader-Willi  Reliability  Social communication  Williams Index. décimale : PER Périodiques Résumé : BACKGROUND: The lack of available measures that can reliably characterize early developmental skills in children with neurogenetic syndromes (NGS) poses a significant challenge for research on early development in these populations. Although syndrome-specific measures may sometimes be necessary, a more cost- and time-efficient solution would be to identify existing measures that are appropriate for use in special populations or optimize existing measures to be used in these groups. Reliability is an important metric of psychometric rigor to consider when auditing and optimizing assessment tools for NGS. In this study, we use Generalizability Theory, an extension of classical test theory, as a novel approach for more comprehensively characterizing the reliability of existing measures and making decisions about their use in the field of NGS research. METHODS: We conducted generalizability analyses on a popular early social communication screener, the Communication and Symbolic Behavior Scales-Infant-Toddler Checklist (CSBS-ITC), collected on 172 children (41 Angelman syndrome, 30 Prader-Willi syndrome, 42 Williams syndrome, 59 low-risk controls). RESULTS: Overall, the CSBS-ITC demonstrated at least adequate reliability in the NGS groups included in this study, particularly for the Prader-Willi and Williams syndrome groups. However, the sources of systematic error variance in the CSBS-ITC varied greatly between the low-risk control and NGS groups. Moreover, as unassessed in previous research, the CSBS-ITC demonstrated substantial differences in variance sources among the NGS groups. Reliability of CSBS-ITC scores was highest when averaging across all measurement points for a given child and was generally similar or better in the NGS groups compared to the low-risk control group. CONCLUSIONS: Our findings suggest that the CSBS-ITC communicates different information about the reliability of stability versus change, in low-risk control and NGS samples, respectively, and that psychometric approaches like Generalizability Theory can provide more complete information about the reliability of existing measures and inform decisions about how measures are used in research on early development in NGS. En ligne : https://dx.doi.org/10.1186/s11689-020-09318-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations [texte imprimé] / Lisa R. HAMRICK, Auteur ; Alison M. HANEY, Auteur ; Bridgette L. KELLEHER, Auteur ; Sean P. LANE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Analysis of Variance  Angelman Syndrome/psychology  Child, Preschool  Communication  Female  Generalization, Psychological  Humans  Infant  Longitudinal Studies  Male  Prader-Willi Syndrome/psychology  Psychometrics/standards  Reproducibility of Results  Risk  Williams Syndrome/psychology  Angelman  Communication and Symbolic Behavior Scales  Generalizability theory  Neurogenetic  Prader-Willi  Reliability  Social communication  Williams Index. décimale : PER Périodiques Résumé : BACKGROUND: The lack of available measures that can reliably characterize early developmental skills in children with neurogenetic syndromes (NGS) poses a significant challenge for research on early development in these populations. Although syndrome-specific measures may sometimes be necessary, a more cost- and time-efficient solution would be to identify existing measures that are appropriate for use in special populations or optimize existing measures to be used in these groups. Reliability is an important metric of psychometric rigor to consider when auditing and optimizing assessment tools for NGS. In this study, we use Generalizability Theory, an extension of classical test theory, as a novel approach for more comprehensively characterizing the reliability of existing measures and making decisions about their use in the field of NGS research. METHODS: We conducted generalizability analyses on a popular early social communication screener, the Communication and Symbolic Behavior Scales-Infant-Toddler Checklist (CSBS-ITC), collected on 172 children (41 Angelman syndrome, 30 Prader-Willi syndrome, 42 Williams syndrome, 59 low-risk controls). RESULTS: Overall, the CSBS-ITC demonstrated at least adequate reliability in the NGS groups included in this study, particularly for the Prader-Willi and Williams syndrome groups. However, the sources of systematic error variance in the CSBS-ITC varied greatly between the low-risk control and NGS groups. Moreover, as unassessed in previous research, the CSBS-ITC demonstrated substantial differences in variance sources among the NGS groups. Reliability of CSBS-ITC scores was highest when averaging across all measurement points for a given child and was generally similar or better in the NGS groups compared to the low-risk control group. CONCLUSIONS: Our findings suggest that the CSBS-ITC communicates different information about the reliability of stability versus change, in low-risk control and NGS samples, respectively, and that psychometric approaches like Generalizability Theory can provide more complete information about the reliability of existing measures and inform decisions about how measures are used in research on early development in NGS. En ligne : https://dx.doi.org/10.1186/s11689-020-09318-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

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