Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model. Author Tom Willgoss, Daiana Cassater, Siobhan Connor, Michelle Krishnan, Meghan Miller, Carla Dias-Barbosa, Dawn Phillips, Julie McCormack, Lynne Bird, Rebecca Burdine, Sharon Claridge, Terry Bichell Publication Year 2021 Type Journal Article Abstract Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers, no disease-modifying treatments are available. To support holistic clinical management and the development of AS-specific outcome measures for clinical studies, we conducted primary and secondary research identifying the impact of symptoms on individuals with AS and their unmet need. This qualitative research adopted a rigorous step-wise approach, aggregating information from published literature, then evaluating it via disease concept elicitation interviews with clinical experts and caregivers. We found that the AS-defining concepts most relevant for treatment included: impaired expressive communication, seizures, maladaptive behavior, cognitive impairment, motor function difficulties, sleep disturbance, and limited self-care abilities. We highlight the relevance of age in experiencing these key AS concepts, and the difference between the perceptions of clinicians and caregivers towards the syndrome. Finally, we outline the impact of AS on individuals, caregivers, and families. Keywords Humans, Models, Theoretical, Angelman Syndrome, Caregivers, Patient-Centered Care, Qualitative Research Journal Child Psychiatry Hum Dev Volume 52 Issue 4 Pages 654-668 Date Published 2021 Aug ISSN Number 1573-3327 DOI 10.1007/s10578-020-01051-z Alternate Journal Child Psychiatry Hum Dev PMCID PMC8238699 PMID 32880036 PubMedPubMed CentralGoogle ScholarBibTeXEndNote X3 XML