Angelman syndrome; patient-centered; qualitative research; Pediatrics, Perinatology and Child Health
Abstract :
[en] Previous patient-centered concept models of Angelman syndrome (AS) are integral in developing our understanding of the symptoms and impact of this condition with a holistic perspective and have highlighted the importance of motor function. We aimed to develop the motor and movement aspects of the concept models, to support research regarding motor-related digital outcomes aligned with patients' and caregivers' perspectives. We conducted a qualitative analysis of semi-structured interviews of 24 caregivers to explore AS motor-related features, factors influencing them and their impact on patients and caregivers.The most impacted motor features were gait, walking and stair-climbing. Half of caregivers ranked motor symptoms as one of the most burdensome symptoms of AS. Caregivers frequently reported physical therapy, motivation, medical management and age as factors influencing motor function in AS and reported that impaired motor function affected both patients and caregivers. Measures of lower-limb motor function were identified as relevant to monitor drug effectiveness in AS. Caregivers discussed expected benefits of a digital outcome and potential issues with wearable technology in the context of AS. We propose a new motor function patient-centered concept model, providing insights for the development of relevant, motor-related, digital outcomes in AS.
Disciplines :
Pediatrics
Author, co-author :
Rogers, Miranda; Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX1 2JD, UK ; Sysnav Co., 27200 Vernon, France
Motola, Stéphane; Sysnav Co., 27200 Vernon, France
Bechichi, Yacine; Sysnav Co., 27200 Vernon, France
Cluzeau, Céline; Sysnav Co., 27200 Vernon, France
Terray, Tanguy; Sysnav Co., 27200 Vernon, France
Berent, Allyson; Foundation for Angelman Syndrome Therapeutics (FAST), P.O. Box 40307, Austin, TX 78704, USA
Panagoulias, Jennifer; Foundation for Angelman Syndrome Therapeutics (FAST), P.O. Box 40307, Austin, TX 78704, USA
Duis, Jessica; Section of Genetics and Inherited Metabolic Disease, Department of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Campus, Aurora, CO 80045, USA
Eggenspieler, Damien; Sysnav Co., 27200 Vernon, France
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX1 2JD, UK
Language :
English
Title :
Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews.
Publication date :
28 August 2023
Journal title :
Children
eISSN :
2227-9067
Publisher :
Multidisciplinary Digital Publishing Institute (MDPI), Switzerland
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