The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

ABSTRACT: Genetic disorders pose great challenges for affected individuals and their families, as they must cope with the irreversible nature of the disease and a life-long dependence on medical assistance and treatment. Children and adolescents dealing with Pompe disease (PD) often struggle to keep up with their peers in physical activities. To gain valuable insights into their subjective experiences and better understand their perception and coping related to daily challenges linked to their condition and treatment, the use of standardized questionnaires is crucial. This study introduces the novel PompeQoL 1.0 questionnaire for children and adolescents with PD, designed for comprehensive assessment of both disease-specific FDH and HRQoL through self- and proxy reports. Content validity was ensured

SUBMITTER: Truninger MI 

PROVIDER: S-EPMC11586600 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature