Quality of life in young patients with achondroplasia. Qualitative comparison of the perspectives of patients and parents

Background. Little is known about the perception of health-related quality of life of short statured children, adolescents and young adults with achondroplasia. Aim. The objective of this study was the identification of physical and socio-emotional problems and resources of young patients with achondroplasia. Material and methods. The quality of life of the 34 patients (age range 8-28 years) and 21 parents of children and adolescents aged 8-18 years was examined and compared using qualitative analyses of focus group discussions. Results. A difference between the children's and parent's perception could be shown. Patients talked about a variety of problems which have a specific impact on their quality of life. However, many also showed adaptive coping strategies in dealing with their diseases and older patients in particular were better adapted and reported less difficulties. Conclusion. The results of this study show the importance of research in this area. In particular, the socio-emotional consequences for affected families from the particular circumstances described in this project indicate a need of adequate support.