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

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers / Christina K. ZIGLER in Journal of Child Psychology and Psychiatry, 67-5 (May 2026)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 67-5 (May 2026) . - p.740-754 Titre : The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers Type de document : texte imprimé Auteurs : Christina K. ZIGLER, Auteur ; Molly MCFATRICH, Auteur ; Nicole LUCAS, Auteur ; Kate PLYLER, Auteur ; Leslie ZAPATA-LEIVA, Auteur ; Kelly GORDON, Auteur ; Harrison N. JONES, Auteur ; Li LIN, Auteur ; Jennifer KERN, Auteur ; Abigail RADAR, Auteur ; Dandan CHEN, Auteur ; Elika BERGELSON, Auteur ; Kate STILL, Auteur ; Brigette HINGER, Auteur ; Christal G. DELAGRAMMATIKAS, Auteur ; Sarah POLIQUIN, Auteur ; Brittany P. SHORT, Auteur ; Liz MARFIA-ASH, Auteur ; Kimberly STEPHENS, Auteur ; Haley O. OYLER, Auteur ; J. Michael GRAGLIA, Auteur ; Kali WORTH, Auteur ; Charlene SON RIGBY, Auteur ; James R. GOSS, Auteur ; Bo BIGELOW, Auteur ; Geraldine BLISS, Auteur ; Karen BEATTY, Auteur ; Leah SCHUST MYERS, Auteur ; Melissa THELEN, Auteur ; Nuala SUMMERFIELD, Auteur ; Terry Jo BICHELL, Auteur ; Bryce B. REEVE, Auteur Article en page(s) : p.740-754 Langues : Anglais (eng) Mots-clés : Communication  non-verbal communication  behavioural measures  qualitative methods  caregiver Index. décimale : PER Périodiques Résumé : Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials. Methods We conducted concept elicitation interviews with purposively selected clinical experts and caregivers of children with 12 NDDs, focusing on a broad definition of communication ability based on the Observer-Reported Communication Ability (ORCA) measure, which is inclusive of different communication modalities and covers expressive, receptive and pragmatic communication concepts. Content-based and thematic analysis was performed on the qualitative data. Results Altogether, 115 interviews were conducted with caregivers across the 12 NDDs and with 9 clinicians. Commonly mentioned concepts across NDDs included requesting an object, refusing an object, responding to familiar directions and seeking attention. There was notable heterogeneity within and across NDD groups in terms of the specific communication behaviours described for each communication concept. One common example was requesting; children used verbal speech, gestures, sign language, eye gaze, body movements and augmentative and assistive communication to ask for what they wanted. Novel communication concepts identified that were not part of the existing model were (1) feelings, emotions, and bodily sensations, (2) commenting on likes and dislikes, and (3) communicating and understanding humour. Conclusions Caregivers offered a detailed and nuanced picture of their child's day-to-day communication. There was a considerable overlap between the communication concepts discussed by caregivers in the interviews and the existing conceptual model of communication ability. Some newly identified concepts underscore the need for further adaptation of the model and subsequent validation of any clinical outcome assessment before communication ability can be confidently measured for these individuals in clinical trials. En ligne : https://doi.org/10.1111/jcpp.70063 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=586 [article] The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers [texte imprimé] / Christina K. ZIGLER, Auteur ; Molly MCFATRICH, Auteur ; Nicole LUCAS, Auteur ; Kate PLYLER, Auteur ; Leslie ZAPATA-LEIVA, Auteur ; Kelly GORDON, Auteur ; Harrison N. JONES, Auteur ; Li LIN, Auteur ; Jennifer KERN, Auteur ; Abigail RADAR, Auteur ; Dandan CHEN, Auteur ; Elika BERGELSON, Auteur ; Kate STILL, Auteur ; Brigette HINGER, Auteur ; Christal G. DELAGRAMMATIKAS, Auteur ; Sarah POLIQUIN, Auteur ; Brittany P. SHORT, Auteur ; Liz MARFIA-ASH, Auteur ; Kimberly STEPHENS, Auteur ; Haley O. OYLER, Auteur ; J. Michael GRAGLIA, Auteur ; Kali WORTH, Auteur ; Charlene SON RIGBY, Auteur ; James R. GOSS, Auteur ; Bo BIGELOW, Auteur ; Geraldine BLISS, Auteur ; Karen BEATTY, Auteur ; Leah SCHUST MYERS, Auteur ; Melissa THELEN, Auteur ; Nuala SUMMERFIELD, Auteur ; Terry Jo BICHELL, Auteur ; Bryce B. REEVE, Auteur . - p.740-754. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 67-5 (May 2026) . - p.740-754 Mots-clés : Communication  non-verbal communication  behavioural measures  qualitative methods  caregiver Index. décimale : PER Périodiques Résumé : Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials. Methods We conducted concept elicitation interviews with purposively selected clinical experts and caregivers of children with 12 NDDs, focusing on a broad definition of communication ability based on the Observer-Reported Communication Ability (ORCA) measure, which is inclusive of different communication modalities and covers expressive, receptive and pragmatic communication concepts. Content-based and thematic analysis was performed on the qualitative data. Results Altogether, 115 interviews were conducted with caregivers across the 12 NDDs and with 9 clinicians. Commonly mentioned concepts across NDDs included requesting an object, refusing an object, responding to familiar directions and seeking attention. There was notable heterogeneity within and across NDD groups in terms of the specific communication behaviours described for each communication concept. One common example was requesting; children used verbal speech, gestures, sign language, eye gaze, body movements and augmentative and assistive communication to ask for what they wanted. Novel communication concepts identified that were not part of the existing model were (1) feelings, emotions, and bodily sensations, (2) commenting on likes and dislikes, and (3) communicating and understanding humour. Conclusions Caregivers offered a detailed and nuanced picture of their child's day-to-day communication. There was a considerable overlap between the communication concepts discussed by caregivers in the interviews and the existing conceptual model of communication ability. Some newly identified concepts underscore the need for further adaptation of the model and subsequent validation of any clinical outcome assessment before communication ability can be confidently measured for these individuals in clinical trials. En ligne : https://doi.org/10.1111/jcpp.70063 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=586

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