Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia
Achondroplasia, as the most common form of disproportionate short stature, potentially impacts the health-related quality of life (HRQOL) and functioning of people with this condition. Because there are no psychometrically validated patient-reported outcome (PRO) condition-specific instruments for achondroplasia, this study selected and tested available generic, disease-specific and under development questionnaires for possible use in multinational clinical research.
A three-step approach was applied. First, a literature review and clinician/expert opinions were used to select relevant PRO questionnaires. Second, focus group discussions, including a group cognitive debriefing for piloting of the questionnaires with children/adolescents with achondroplasia and their parents, were performed in Spain and Germany. Third, a field-test study was conducted to test the psychometric properties of these instruments.
Six questionnaires were identified as potentially relevant in children with achondroplasia. In each country, five focus groups including a cognitive debriefing were conducted, and the results narrowed the possibilities to three instruments as most appropriate to assess HRQOL (the generic PedsQL, the height-specific QoLISSY, and the achondroplasia-specific APLES). Results of the field study indicate the QoLISSY and the PedsQL questionnaires to be most appropriate for use in clinical research at this time.
This selection study is a step forward in assessing the impact of achondroplasia on HRQOL. Of the instruments examined, the QoLISSY and the PedsQL both capture items relevant to children with achondroplasia and have met the psychometric validation criteria needed for use in research. The APLES instrument is a promising tool that should be revisited upon psychometric validation.
KeywordsAchondroplasia HRQOL assessment Psychometric properties Children Parents
We would like to thank all participating families who contributed to this study, as well as the patient organizations BKMF in Germany and the ALPE Foundation in Spain. Also, we thank the team from BioMarin Pharmadeutical who sponsored the study and Laser Analytica who helped to conduct the study. Furthermore, we thank Dr. Belén Pimentel from FIMABIS for her valuable scientific support.
This study was sponsored by BioMarin Europe Ltd. PR was supported through an Incorporation of PhD contracts from the University of Málaga and José Castillejo Program (CAS18/00263) from the Spanish Ministry of Science, Innovation and Universities. All authors received research funding for the conduct of the study. The authors received no financial support for the development of the manuscript.
Compliance with ethical standards
Conflict of interests
All authors received research funding for the conduct of the study. The authors received no financial support for the development of the manuscript.
All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Ethical approval was obtained from the local ethics committees in Germany and Spain before start of the study.
Informed consent was obtained from all individual participants included in the study.
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