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.
Similar content being viewed by others
References
Horton, W., Hall, J., & Hecht, J. (2007). Achondroplasia. Lancet, 370, 162–172.
Mohnike, K., Klingebiel, K., Vaupel, N., & Zabel, B. (2013). Achondroplasie und Hypochondroplasie (2nd ed.). Berlin: ABW Wissenschaftsverlag.
Baujat, G., Legeai-Mallet, L., Finidori, G., Cormier-Daire, V., & Merrer, M. (2008). Achondroplasia. Best Practice & Research Clinical Rheumatology, 22(1), 3–18.
Richette, P., Bardin, T., & Stheneur, C. (2008). Achondroplasia: From genotype to phenotype. Joint Bone Spine, 75, 125–130.
Ireland, P. J., McGill, J., Zankl, A., Ware, R. S., Pacey, V., Ault, J., et al. (2011). Functional performance in young Australian children with achondoplasia. Developmental Medicine and Child Neurology, 53, 944–950.
Hoover-Fong, J., Schulze, K. J., McGready, J., Barnes, H., & Schott, C. (2008). Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. The American Journal of Clinical Nutrition, 88, 364–371.
Gollust, S., Thompson, R., Gooding, H., & Biesecker, B. (2003). Living with achondroplasia in an average-sized world: An assessment of quality of life. American Journal of Medical Genetics, 120(A), 447–458.
Hunter, A. (1998). Some psychosical aspects of nonlethal chondrodysplasias: II. Depression and anxiety. American Journal of Medical Genetics, 78, 9–12.
Bullinger, M. (2002). Assessing health related quality of life in medicine. An overview over concepts, methods and applications in international research. Restorative Neurology and Neuroscience, 20(3–4), 93–101.
Patrick, D., Burke, L., Powers, J., Scott, J., Rock, E., Dawisha, S., et al. (2007). Patient-reported outcomes to support medical product labeling claims: FDA perspective. Value in Health, 10(2), 125–137.
Cohen, J., & Biesecker, B. (2010). Quality of life in rare genetic conditions: A systematic review of the literature. American Journal of Medical Genetics, 152A, 1136–1156.
Brütt, A. L., Sandberg, D. E., Chaplin, J., Wollmann, H., Noeker, M., Koltowska-Haggstrom, M., et al. (2009). Assessment of health-related quality of life and patient satisfaction in children and adolescents with growth hormone deficiency or idiopathic short stature—Part 1: A critical evaluation of available tools. Hormone Research, 72(2), 65–73.
Kim, S. J., Balce, G. C., Agashe, M. V., Song, S. H., & Song, H. R. (2012). Is bilateral lower limb lengthening appropriate for achondroplasia?: Midterm analysis of the complications and quality of life. Clinical Orthopaedics and Related Research, 470(2), 616–621.
Savarirayan, R., & Rimoin, D. L. (2002). The skeletal dysplasias. Best Practice & Research Clinical Endocrinology & Metabolism, 16, 547–560.
Kim, S. J., Agashe, M. V., Song, S. H., Choi, H. J., Lee, H., & Song, H. R. (2012). Comparison between upper and lower limb lengthening in patients with achondroplasia: A retrospective study. Journal of Bone and Joint Surgery—Series B, 94(B(1)), 128–133.
Ornitz, D. M., & Legeai-Mallet, L. (2017). Achondroplasia: Development, pathogenesis, and therapy. Developmental Dynamics, 246(4), 291–309.
Miccoli, M., Bertelloni, S., & Massart, F. (2016). Height outcome of recombinant human grwoth hormone treatment in achondroplasia children: A meta-analysis. Hormone Research in Paediatrics, 86(1), 27–34.
Mokkink, L. B., Terwee, C. B., Patrick, D. L., Alonso, J., Stratford, P. W., Knol, D. L., et al. (2010). The COSMIN checklist for assessing the methodological quality of studies on measurement properties of health status measurement instruments: an international Delphi study. Quality of Life Research, 19(4), 539–549.
Brod, M., Tesler, L. E., & Christensen, T. L. (2009). Qualitative research and content validity: Developing best practices basen on science and experience. Quality of Life Research, 18, 1263–1278.
Patrick, D. L., Burke, L. B., Gwaltney, C. J., Leidy, N. K., Martin, M. L., Molsen, E., et al. (2011). Content validity—Establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO Good Research Practices Task Force report: Part 2—assessing respondent understanding. Value Health, 14(8), 978–988.
Cheng, K. C., & Clark, A. (2017). Qualitative methods and patient-reported outcomes: Measures development and adaption. International Journal of Qualitative Methods, 16, 1–3.
IBM Corp. (2012). IBM SPSS statistics for windows (version 21.0). Armonk, NY: IBM Corp.
Terwee, C. B., Bot, S. D. M., Boear, M. R., Van der Windt, D., Knol, D. L., Dekker, J., et al. (2007). Quality criteria were proposed for measurement properties of health status questionnaires. Journal of Clinical Epidemiology, 60, 34–42.
MAXQDA. (1989-2013). Software for qualitative data analysis. Berlin: VERBI Software - Consult - Sozialforschung GmbH.
Petrillo, J., Cano, S. J., McLeod, L., & Coon, C. D. (2015). Using classical test theory, item response theory, and Rasch measurement theory to evaluate patient-reported outcome measures: A comparison of worked examples. Value in Health, 18(1), 25–34.
Organization W. H. (2007). WHO Growth Reference Program.
Turan, S., Bereket, A., Omar, A., Berber, M., Ozen, A., & Bekiroglu, N. (2005). Upper segment/lower segement ratio and armspan-height differences in healthy Turkish children. Acta Paediatrica, 94, 407–413.
Frederiks, A., van Buuren, S., van Heel, W., Dijkman-Neerincx, R., Verloove-Vanhorick, S., & Wit, J. (2005). Nationwide age references for sitting height, leg length, and sitting height/height ratio, and their diagnostic values for disproportionate growth disorders. Archives of Disease in Childhood, 90, 807–812.
Del Pino, M., Mejia, R., & Fano, V. (2018). Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth. American Journal of Medical Genetics, 176, 896–906.
Ottenbacher, K. J., Msall, M., Lyon, N., Duffy, L., Ziviani, J., Granger, C., et al. (2000). The WeeFIM instrument: Its utility in detecting change in children with developmental disabilities. Archives of Physical Medicine and Rehabilitation, 81(10), 1317–1326.
Haley, S. M., Coster, W. J., Dumas, H., Fragala-Pinkham, M., Kramer, J., Ni, P., et al. (2011). Accuracy and precision of the Pediatric Evaluation of Disability Inventory computer-adaptive tests (PEDI-CAT). Developmental Medicine and Child Neurology, 53(12), 1100–1106.
Ravens-Sieberer, U., Herdman, M., Devine, J., Otto, C., Bullinger, M., Rose, M., et al. (2013). The European KIDSCREEN approach to measure quality of life and well-being in children: development, current application, and future advances. Quality of Life Research, 1, 1. https://doi.org/10.1007/s11136-013-0428-3.
Varni, J. W., Seid, M., & Rode, C. A. (1999). The PedsQLTM: Measurement model for the Pediatric Quality of Life Inventory. Medical Care, 37, 126–139.
Wille, N., Badia, X., Bonsel, G., Burstrom, K., Cavrini, G., Devlin, N., et al. (2010). Development of the EQ-5D-Y: A child-friendly version of the EQ-5D. Quality of Life Research, 19(6), 875–886.
Daltroy, L., Liang, M., Fossel, A., & Goldberg, M. J. (1998). The POSNA pediatric musculoskeletal functional health questionnaire: Report on reliability, validity, and sensitivity to change. Pediatric Outcomes Instrument Development Group. Pediatric Orthopaedic Society of North America. Journal of Pediatric Orthopaedics, 18(5), 561–571.
Allen, D., Gortons, G., Oeffinger, D., Tylkowski, C., Tucker, C., & Haley, S. (2008). Analysis of the pediatric outcomes data collection instrument (PODCI) in ambulatory children with cerebral palsy using confirmatory factor analysis and item response theory methods. Journal of Pediatric Orthopaedics, 28(2), 192–198.
Rohenkohl, A. C., Bullinger, M., & Quitmann, J. (2015). Quality of life in children, adolescents, and young adults with achondroplasia. Orthopäde, 44(3), 212–218.
The European QoLISSY Group. (2013). Quality of life in short stature youth. The QoLISSY Questionnaire—User’s manual. Lengerich: Pabst Science Publishers.
Sommer, R., Blömeke, J., Dabs, M., Witt, S., Bullinger, M., & Quitmann, J. (2016). An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia—Development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES). Disability and Rehabilitation, 16, 1–5.
Bloemeke, J., Sommer, R., Witt, S., Dabs, M., Badia, F. J., Bullinger, M., et al. (2018). Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the International Classification of Functioning Disability and Health: The Achondroplasia Personal Life Experience Scale (APLES). Disability and Rehabilitation, 8, 1–11.
Shelmerdine, S. C., Brittain, H., Arthurs, O., & Calder, A. (2016). Achondroplasia: Really rhizomelic? American Journal of Medical Genetics, 170(8), 2039–2043.
Acknowledgements
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.
Funding
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.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
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.
Ethical approval
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
Informed consent was obtained from all individual participants included in the study.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Bloemeke, J., Sommer, R., Witt, S. et al. Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia. Qual Life Res 28, 2553–2563 (2019). https://doi.org/10.1007/s11136-019-02210-z
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11136-019-02210-z