Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium / Lauren SCHWARTZ in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium Type de document : texte imprimé Auteurs : Lauren SCHWARTZ, Auteur ; Assumpta CAIXÀS, Auteur ; Anastasia DIMITROPOULOS, Auteur ; Elisabeth DYKENS, Auteur ; Jessica DUIS, Auteur ; Stewart EINFELD, Auteur ; Louise GALLAGHER, Auteur ; Anthony HOLLAND, Auteur ; Lauren RICE, Auteur ; Elizabeth ROOF, Auteur ; Parisa SALEHI, Auteur ; Theresa STRONG, Auteur ; Bonnie TAYLOR, Auteur ; Kate WOODCOCK, Auteur Langues : Anglais (eng) Mots-clés : Anxiety  Consensus  Humans  Prader-Willi Syndrome/therapy  Quality of Life  Behavior  Hyperphagia  Obsessive–compulsive  Patient vignettes  Prader-Willi syndrome  Rigidity  Social cognition  Temper outbursts  Willi Research AC–no competing interests AD–no competing interests ED–no  competing interests JD–no competing interests SE–no competing interests AH–no  competing interests LR–no competing interests ER–no competing interest PS is  involved in clinical research funded by Soleno Therapeutics, Inc. & Millendo  Therapeutics, Inc. TS is an employee of Foundation for Prader Willi Research  (FPWR) and Director of Research Programs at FPWR BT–no competing interests KW–no  competing interests Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org ) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC "Behavior Outcomes Working Group" sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive-compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS. En ligne : https://dx.doi.org/10.1186/s11689-021-09373-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium [texte imprimé] / Lauren SCHWARTZ, Auteur ; Assumpta CAIXÀS, Auteur ; Anastasia DIMITROPOULOS, Auteur ; Elisabeth DYKENS, Auteur ; Jessica DUIS, Auteur ; Stewart EINFELD, Auteur ; Louise GALLAGHER, Auteur ; Anthony HOLLAND, Auteur ; Lauren RICE, Auteur ; Elizabeth ROOF, Auteur ; Parisa SALEHI, Auteur ; Theresa STRONG, Auteur ; Bonnie TAYLOR, Auteur ; Kate WOODCOCK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Anxiety  Consensus  Humans  Prader-Willi Syndrome/therapy  Quality of Life  Behavior  Hyperphagia  Obsessive–compulsive  Patient vignettes  Prader-Willi syndrome  Rigidity  Social cognition  Temper outbursts  Willi Research AC–no competing interests AD–no competing interests ED–no  competing interests JD–no competing interests SE–no competing interests AH–no  competing interests LR–no competing interests ER–no competing interest PS is  involved in clinical research funded by Soleno Therapeutics, Inc. & Millendo  Therapeutics, Inc. TS is an employee of Foundation for Prader Willi Research  (FPWR) and Director of Research Programs at FPWR BT–no competing interests KW–no  competing interests Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org ) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC "Behavior Outcomes Working Group" sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive-compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS. En ligne : https://dx.doi.org/10.1186/s11689-021-09373-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Development of the Angelman syndrome video assessment: quantifying meaningful change / Kriszha A. SHEEHY in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Development of the Angelman syndrome video assessment: quantifying meaningful change Type de document : texte imprimé Auteurs : Kriszha A. SHEEHY, Auteur ; Mindy G. LEFFLER, Auteur ; Rebecca J. WOODS, Auteur ; Robert KOMOROWSKI, Auteur ; Rebecca CREAN, Auteur ; Christina K. ZIGLER, Auteur ; Jessica DUIS, Auteur ; Olivia BOOROM, Auteur ; Nancy BRADY, Auteur ; Lauren DEVALK, Auteur ; Nicole HARRIS, Auteur ; Amber SAPP, Auteur ; Caroline WOEBER, Auteur ; Anjali SADHWANI, Auteur ; Wen-Hann TAN, Auteur ; ASVA DELPHI PANELISTS, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/diagnosis/physiopathology  Activities of Daily Living  Video Recording  Male  Female  Delphi Technique  Child  Caregivers  Communication  Adult  Adolescent  Activities of daily living  Angelman syndrome  Meaningful clinical outcome  Neurodevelopmental  Outcome measure  Patient outcome assessment  Patient-focused drug development  Video assessment  during the ASVA Pilot study, approved by the central Institutional Review Board  IntegReview (Austin, TX) and the ASVA source material study (NCT05637697),  approved by Advarra IRB (Pro00057202). All caregivers were legal guardians who  provided written consent for themselves and subjects and received compensation  for their participation. All participating Delphi panelists signed written  agreements to provide consultant services for the purposes of Delphi panel, and  they were provided with an honorarium for their time. Since panelists provided  expert opinion through consultant services, this was not considered human  subjects research. Consent for publication: Not applicable. Competing interests:  The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The Angelman Syndrome Video Assessment (ASVA) is a clinician-reported outcome measure that was developed to assess the functional ability of individuals with Angelman Syndrome (AS) in a familiar environment. Through standardized tasks and associated scorecards, clinicians assess four meaningful domains of functioning: communication, activities of daily living (ADLs, which include fine motor skills), gross motor, and external direction (i.e., the ability to follow directions) via scorecards with pre-established criteria. The aim of this project was to develop and refine the scorecards using a rigorous process in partnership with caregivers, clinicians, and researchers in the AS community. METHODS: The Scorecard development process included four phases: (1) video source material study, (2) identification of initial scoring criteria, (3) scorecard drafts, and (4) two (Caregiver and Clinician panel and PT panel) two-round modified Delphi processes to reach consensus. All phases were conducted remotely except for Round 2 of the Caregiver and Clinician Delphi Panel, which was conducted in person. Votes were held for each scoring criterion and consensus was defined as ≥ 70% agreement. RESULTS: In the communication, ADLs, and external direction domains, scorecard criteria reached 80 to 100% agreement among caregivers (n = 8) and clinicians (n = 2), resulting in a total of 218 scoring criteria and levels across 10 tasks. In the gross motor domain, scorecard criteria reached 100% agreement among physical therapists (n = 8) with a total of 347 scoring criteria and levels across 8 tasks. CONCLUSIONS: The ASVA was developed with insights from the AS community, including caregivers of individuals with AS, clinicians, and researchers. The ASVA is a novel, disease-specific, clinician-reported outcome measure that uses standardized video capture and scorecards that were developed through a rigorous process, resulting in well-developed criteria to quantify meaningful changes of function in individuals with AS in communication, ADLs, gross motor function, and external direction. En ligne : https://dx.doi.org/10.1186/s11689-025-09655-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Development of the Angelman syndrome video assessment: quantifying meaningful change [texte imprimé] / Kriszha A. SHEEHY, Auteur ; Mindy G. LEFFLER, Auteur ; Rebecca J. WOODS, Auteur ; Robert KOMOROWSKI, Auteur ; Rebecca CREAN, Auteur ; Christina K. ZIGLER, Auteur ; Jessica DUIS, Auteur ; Olivia BOOROM, Auteur ; Nancy BRADY, Auteur ; Lauren DEVALK, Auteur ; Nicole HARRIS, Auteur ; Amber SAPP, Auteur ; Caroline WOEBER, Auteur ; Anjali SADHWANI, Auteur ; Wen-Hann TAN, Auteur ; ASVA DELPHI PANELISTS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Angelman Syndrome/diagnosis/physiopathology  Activities of Daily Living  Video Recording  Male  Female  Delphi Technique  Child  Caregivers  Communication  Adult  Adolescent  Activities of daily living  Angelman syndrome  Meaningful clinical outcome  Neurodevelopmental  Outcome measure  Patient outcome assessment  Patient-focused drug development  Video assessment  during the ASVA Pilot study, approved by the central Institutional Review Board  IntegReview (Austin, TX) and the ASVA source material study (NCT05637697),  approved by Advarra IRB (Pro00057202). All caregivers were legal guardians who  provided written consent for themselves and subjects and received compensation  for their participation. All participating Delphi panelists signed written  agreements to provide consultant services for the purposes of Delphi panel, and  they were provided with an honorarium for their time. Since panelists provided  expert opinion through consultant services, this was not considered human  subjects research. Consent for publication: Not applicable. Competing interests:  The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The Angelman Syndrome Video Assessment (ASVA) is a clinician-reported outcome measure that was developed to assess the functional ability of individuals with Angelman Syndrome (AS) in a familiar environment. Through standardized tasks and associated scorecards, clinicians assess four meaningful domains of functioning: communication, activities of daily living (ADLs, which include fine motor skills), gross motor, and external direction (i.e., the ability to follow directions) via scorecards with pre-established criteria. The aim of this project was to develop and refine the scorecards using a rigorous process in partnership with caregivers, clinicians, and researchers in the AS community. METHODS: The Scorecard development process included four phases: (1) video source material study, (2) identification of initial scoring criteria, (3) scorecard drafts, and (4) two (Caregiver and Clinician panel and PT panel) two-round modified Delphi processes to reach consensus. All phases were conducted remotely except for Round 2 of the Caregiver and Clinician Delphi Panel, which was conducted in person. Votes were held for each scoring criterion and consensus was defined as ≥ 70% agreement. RESULTS: In the communication, ADLs, and external direction domains, scorecard criteria reached 80 to 100% agreement among caregivers (n = 8) and clinicians (n = 2), resulting in a total of 218 scoring criteria and levels across 10 tasks. In the gross motor domain, scorecard criteria reached 100% agreement among physical therapists (n = 8) with a total of 347 scoring criteria and levels across 8 tasks. CONCLUSIONS: The ASVA was developed with insights from the AS community, including caregivers of individuals with AS, clinicians, and researchers. The ASVA is a novel, disease-specific, clinician-reported outcome measure that uses standardized video capture and scorecards that were developed through a rigorous process, resulting in well-developed criteria to quantify meaningful changes of function in individuals with AS in communication, ADLs, gross motor function, and external direction. En ligne : https://dx.doi.org/10.1186/s11689-025-09655-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Gait as a quantitative translational outcome measure in Angelman syndrome / Stela P. PETKOVA in Autism Research, 15-5 (May 2022)  

Public ISBD [article]  inAutism Research > 15-5 (May 2022) . - p.821-833 Titre : Gait as a quantitative translational outcome measure in Angelman syndrome Type de document : texte imprimé Auteurs : Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Elizabeth L. BERG, Auteur ; Timothy A. FENTON, Auteur ; Jessica DUIS, Auteur ; Jill L. SILVERMAN, Auteur Article en page(s) : p.821-833 Langues : Anglais (eng) Mots-clés : Angelman Syndrome/genetics  Animals  Autism Spectrum Disorder  Disease Models, Animal  Gait/physiology  Humans  Mice  Movement Disorders  Muscle Hypotonia  Outcome Assessment, Health Care  Angelman syndrome  animal models  autism  behavior  gait  genetics  longitudinal  motor  mouse models  neurodevelopment Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome measure in AS as they comprise a broad repertoire of metrics including ataxia, hypotonia, delayed ambulation, crouched gait, and poor posture, and motor dysfunction affects nearly every individual with AS. Guided by collaborative work with AS clinicians studying gait, the goal of this study was to perform an in-depth gait analysis using the automated treadmill assay, DigiGait. Our hypothesis is that gait presents a strong opportunity for a reliable, quantitative, and translational metric that can serve to evaluate novel pharmacological, dietary, and genetic therapies. In this study, we used an automated gait analysis system, in addition to standard motor behavioral assays, to evaluate components of motor, exploration, coordination, balance, and gait impairments across the lifespan in an AS mouse model. Our study demonstrated marked global motoric deficits in AS mice, corroborating previous reports. Uniquely, this is the first report of nuanced aberrations in quantitative spatial and temporal components of gait in AS mice compared to sex- and age-matched wildtype littermates followed longitudinally using metrics that are analogous in AS individuals. Our findings contribute evidence toward the use of nuanced motor outcomes (i.e., gait) as valuable and translationally powerful metrics for therapeutic development for AS, as well as other genetic neurodevelopmental syndromes. LAY SUMMARY: Movement disorders affect nearly every individual with Angelman Syndrome (AS). The most common motor problems include spasticity, ataxia of gait (observed in the majority of ambulatory individuals), tremor, and muscle weakness. This report focused on quantifying various spatial and temporal aspects of gait as a reliable, translatable outcome measure in a preclinical AS model longitudinally across development. By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, we will create more opportunities for identifying and advancing successful medical interventions. En ligne : http://dx.doi.org/10.1002/aur.2697 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Gait as a quantitative translational outcome measure in Angelman syndrome [texte imprimé] / Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Elizabeth L. BERG, Auteur ; Timothy A. FENTON, Auteur ; Jessica DUIS, Auteur ; Jill L. SILVERMAN, Auteur . - p.821-833. Langues : Anglais (eng) in Autism Research > 15-5 (May 2022) . - p.821-833 Mots-clés : Angelman Syndrome/genetics  Animals  Autism Spectrum Disorder  Disease Models, Animal  Gait/physiology  Humans  Mice  Movement Disorders  Muscle Hypotonia  Outcome Assessment, Health Care  Angelman syndrome  animal models  autism  behavior  gait  genetics  longitudinal  motor  mouse models  neurodevelopment Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome measure in AS as they comprise a broad repertoire of metrics including ataxia, hypotonia, delayed ambulation, crouched gait, and poor posture, and motor dysfunction affects nearly every individual with AS. Guided by collaborative work with AS clinicians studying gait, the goal of this study was to perform an in-depth gait analysis using the automated treadmill assay, DigiGait. Our hypothesis is that gait presents a strong opportunity for a reliable, quantitative, and translational metric that can serve to evaluate novel pharmacological, dietary, and genetic therapies. In this study, we used an automated gait analysis system, in addition to standard motor behavioral assays, to evaluate components of motor, exploration, coordination, balance, and gait impairments across the lifespan in an AS mouse model. Our study demonstrated marked global motoric deficits in AS mice, corroborating previous reports. Uniquely, this is the first report of nuanced aberrations in quantitative spatial and temporal components of gait in AS mice compared to sex- and age-matched wildtype littermates followed longitudinally using metrics that are analogous in AS individuals. Our findings contribute evidence toward the use of nuanced motor outcomes (i.e., gait) as valuable and translationally powerful metrics for therapeutic development for AS, as well as other genetic neurodevelopmental syndromes. LAY SUMMARY: Movement disorders affect nearly every individual with Angelman Syndrome (AS). The most common motor problems include spasticity, ataxia of gait (observed in the majority of ambulatory individuals), tremor, and muscle weakness. This report focused on quantifying various spatial and temporal aspects of gait as a reliable, translatable outcome measure in a preclinical AS model longitudinally across development. By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, we will create more opportunities for identifying and advancing successful medical interventions. En ligne : http://dx.doi.org/10.1002/aur.2697 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

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