Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

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...

Full description

Saved in:
Bibliographic Details
Published in:Child psychiatry and human development Vol. 52; no. 4; pp. 654 - 668
Main Authors: Willgoss, Tom, Cassater, Daiana, Connor, Siobhan, Krishnan, Michelle L., Miller, Meghan T., Dias-Barbosa, Carla, Phillips, Dawn, McCormack, Julie, Bird, Lynne M., Burdine, Rebecca D., Claridge, Sharon, Bichell, Terry Jo
Format: Journal Article
Language:English
Published: New York Springer US 01-08-2021
Springer Nature B.V
Subjects:
Angelman syndrome
Behavior problems
Behavioral Science and Psychology
Caregivers
Child & adolescent psychiatry
Child and School Psychology
Cognitive ability
Cognitive impairment
Cognitive-behavioral factors
Convulsions & seizures
Disease concept
Elicitation
Health care management
Motor ability
Neurodevelopmental disorders
Original
Original Article
Patient-centered care
Psychiatry
Psychology
Qualitative research
Seizures
Self care
Sleep disorders
Qualitative research
Clinical endpoint
Angelman syndrome
Patient-centered
Outcome assessment
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0009-398X
1573-3327
DOI:10.1007/s10578-020-01051-z