Janika Bloemeke1, Rachel Sommer2, Stefanie Witt3, Monika Bullinger3, Clementine Nordon4, Francisco Javier Badia4, Felipe Luna González5, Antonio Leiva-Gea5, Francisco de Borja Delgado Rufino5, Fermín Mayoral-Cleries6, Pablo Romero-Sanchiz6,7,8, Verónica Clamagirand Saiz6, Raquel Nogueira-Arjona8, Klaus Mohnike9, Julia Quitmann3. 1. Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistraße 52 | W 26, 20246, Hamburg, Germany. j.bloemeke@uke.de. 2. Center for Psychosocial Medicine, Institute of Health Care Research in Dermatology and Nursing (IVDP), University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 3. Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistraße 52 | W 26, 20246, Hamburg, Germany. 4. LASER Analytica, Tour CIT 3 rue de l'arrivée, 75015, Paris, France. 5. Unidad de Cirugía Ortopédica y Traumatología, Hospital Universitario Virgen de la Victoria Málaga, Málaga, Spain. 6. Unidad de Salud Mental, Hospital Universitario Regional de Málaga, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain. 7. Departamento de Personalidad, Evaluación y Tratamientos Psicológicos, Universidad de Málaga, Málaga, Spain. 8. Department of Psychology and Neuroscience, Dalhousie University, Halifax, Canada. 9. University Children's Clinic, Otto von Geuricke University in Magdeburg, Magdeburg, Germany.
Abstract
PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
PURPOSE: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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
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