Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility

Orphanet Journal of Rare Diseases

Outi Mäkitie¹  Sanna Leppäjoki-Tiistola²  Heidi Anttila³  Susanna Tallqvist⁴  Minna Muñoz⁵  Sinikka Hiekkala⁶ 

[1] Children’s Hospital, University of Helsinki and Helsinki University Hospital, P.O. Box 63, 00014, Helsinki, Finland;Folkhälsan Institute of Genetics, Helsinki, Finland;Lyhytkasvuiset – Kortväxta ry (Finnish Association for People with Restricted Growth and for Their Families), PO Box 14, 02601, Espoo, Finland;Finnish Association of People With Physical Disabilities, Mannerheimintie 107, 00280, Helsinki, Finland;Public Health and Welfare Department, Knowledge Management and Co-Creation Unit, Finnish Institute for Health and Welfare, Mannerheimintie 166, 01270, Helsinki, Finland;University of Helsinki, Yliopistonkatu 3, 00014, Helsinki, Finland;Validia Ltd, Validia Rehabilitation, Nordenskiöldinkatu 18 B, 00250, Helsinki, Finland;Validia Ltd, Validia Rehabilitation, Nordenskiöldinkatu 18 B, 00250, Helsinki, Finland;Finnish Association of People With Physical Disabilities, Mannerheimintie 107, 00280, Helsinki, Finland;

关键词: Functioning;    Disability;    Environmental factors;    Self-report;    Questionnaire design;    Content validity;    Skeletal dysplasia;    Short stature;    Rare disease;   

DOI  :  10.1186/s13023-021-01857-7

来源: Springer

【 摘 要 】

BackgroundLittle is known about the spectrum of everyday challenges that people with skeletal dysplasia face because of their health and functioning. We aimed to identify factors related to health, functioning and disability in people with skeletal dysplasia, and their challenges with accessibility in order to form a self-reported questionnaire for national data collection. The comprehensive musculoskeletal post-acute core set of the International Classification of Functioning, Disability and Health (ICF) was used as a framework.MethodsAn iterative, participatory and qualitative process was used to formulate a questionnaire. Items were searched from Patient-Reported Outcomes Measurement Information System and from other self-report instruments, additional items were formulated using ICF linking rules. Expert panels from the target population assessed the face and content validity in thematic interviews.ResultsThe questionnaire demonstrated its relevance, comprehensiveness and feasibility for people with skeletal dysplasia. The ICF linkages showed the contents’ correspondence to the construct. Expert panels added 15 categories and one on chapter level to the core set and confirmed content validity. The final survey covers 86 ICF categories and 173 ICF-linked items that were grouped to 33 questions.ConclusionsThe content of the questionnaire proved to be sufficiently valid for people with skeletal dysplasia. It can be used to explore their health, functioning, disability and accessibility to develop care and rehabilitation policies, to plan services and to provide information to various parties involved.

【 授权许可】

CC BY