Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.
OBJECTIVE
To develop a patient-reported outcome measure (PROM) assessing upper limb function related to activities of daily living (ADL) that cannot be observed in a clinical setting, specifically for patients with Duchenne muscular dystrophy (DMD) across a wide age range, applicable in the different stages of the disease.


METHODS
The developmental process was based on US Food and Drug Administration guidelines. This included item generation from a systematic review of existing tools and expert opinion on task difficulty and relevance, involving individuals with DMD. Cultural aspects affecting ADL were taken into consideration to make this tool applicable to the broad DMD community. Items were selected in relation to a conceptual framework reflecting disease progression covering the full range of upper limb function across different ADL domains.


RESULTS
After pilot testing and iterative Rasch analyses, redundant or clinically irrelevant items were removed. The final questionnaire consists of 32 items covering four domains of ADL (food, self-care, household and environment, leisure and communication). Test-retest reliability was excellent.


CONCLUSIONS
A DMD-specific upper limb PROM was developed on the basis of clinical relevance and psychometric robustness. Its main purpose is to document the patient self-reported natural history of DMD and assess the efficacy of interventions.
Department of Rehabilitation Sciences, KU Leuven, Leuven, Belgium.|Rehabilitation Research Center (REVAL), Biomed, Hasselt University, Diepenbeek, Belgium.
K
K
Klingels
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
A G
AG
Mayhew
Department of Paediatric Neurology, Catholic University, Rome, Italy.
E S
ES
Mazzone
Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
T
T
Duong
Institut de Myologie, GH Pitié Salpêtrière, Paris, France.
V
V
Decostre
Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.
U
U
Werlauff
Duchenne Parent Project, Veenendaal, the Netherlands.
E
E
Vroom
Department of Paediatric Neurology, Catholic University, Rome, Italy.
E
E
Mercuri
Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
N M
NM
Goemans
D000203:Activities of Daily Living; D000293:Adolescent; D002648:Child; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D008297:Male; D015233:Models, Statistical; D020388:Muscular Dystrophy, Duchenne / Q000473:pathology* / Q000523:psychology*; D000071066:Patient Reported Outcome Measures; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012648:Self Care; D011795:Surveys and Questionnaires; D034941:Upper Extremity / Q000503:physiopathology*