Journal Article Ahead of print
PubMed: 42319681 DOI: 10.1186/s41687-026-01127-9
Development and pilot testing of the quality of life of parents of children with achondroplasia questionnaire.
J Patient Rep Outcomes
Authors: Adekunle Adedeji, Stefanie Witt, Maria Salomão, Tabea Steinhoff, Florian Innig, Inês Alves, Chiara Provasi, Marco Sessa, Klaus Mohnike, Julia Quitmann
Affiliations
- Faculty of Social Work and Childhood Education, HAW Hamburg, Hamburg, Germany.
- Institute of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
- Faculty of Social Work and Childhood Education, HAW Hamburg, Hamburg, Germany.
- Institute of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
- Faculty of Social Work and Childhood Education, HAW Hamburg, Hamburg, Germany.
- Institute of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Faculty of Social Work and Childhood Education, HAW Hamburg, Hamburg, Germany.
- Federal Association for People of Short Stature and their Families (Bundesverband Kleinwüchsige Menschen und ihre Familien e.V.), BKMF, Bremen, Germany.
- National Association for Skeletal Dysplasias - ANDO Portugal, Evora, Portugal.
- School of Health and Human Development, University of Évora, Evora, Portugal.
- Italian Association on Achondroplasia (Associazione per l'Informazione e lo studio dell'acondroplasia) AISAC, Milan, Italy.
- Children's Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
- Faculty of Social Work and Childhood Education, HAW Hamburg, Hamburg, Germany.
- Institute of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Abstract
BACKGROUND
Parents of children with achondroplasia face sustained caregiving demands that may affect multiple dimensions of well-being. Despite growing recognition of these challenges, no validated, condition-specific instrument exists to assess the quality of life (QoL) of parents of children with achondroplasia. This study aimed to develop, and pilot test the Quality of Life of Parents of Children with Achondroplasia (QOLA) questionnaire.
METHODS
QOLA was developed using a multi-phase mixed-methods design in accordance with established standards for developing self-reported outcome measures for caregivers and parents. Phase 1 comprised semi-structured qualitative interviews with 17 parents of children with achondroplasia to identify relevant QoL domains and language. Interview data were analysed using qualitative content analysis and informed systematic item generation (Phase 2). Conceptual structure was examined through researcher-led card sorting (Phase 3) and two rounds of international card sorting following translation (Phase 4). The resulting 63-item questionnaire across eight domains was pilot-tested in a cross-sectional, multi-country study with embedded cognitive debriefing in Germany, Italy, and Portugal (total N = 50).
RESULTS
The final pilot version of QOLA comprised 63 items across eight domains covering healthcare experiences, challenges and support, physical health, mental health, social life and relationships, coping, family and daily life, and worries and future concerns. Item-level missing data were minimal, and no pronounced floor or ceiling effects were observed. Internal consistency was acceptable to good for domains (α = 0.624-0.821) and good for the total scale (α = 0.798). Inter-domain correlations were generally moderate to strong. Cognitive debriefing was highly acceptable and relevant across countries, with some suggestions for further refinement.
CONCLUSIONS
QOLA shows strong preliminary evidence of acceptability and internal consistency and addresses a key measurement gap in achondroplasia research. Further large-scale psychometric validation is warranted.
MeSH
Research Design, Quality Of Life, Pilots, Multiple Chronic Conditions, Achondroplasia, Patient Reported Outcome Measures, Research, Mental Health, Child