RESUMO
Skeletal dysplasias are a large and heterogeneous group of conditions that affect growth and development of the skeleton. As might be expected, short stature is a frequent manifestation of these disorders but other complications do occur with varying frequencies depending on specific diagnosis and age of the patient. With the ongoing development of targeted therapies for achondroplasia and possibly other skeletal dysplasias, it is important to ascertain what are the factors influencing quality of life if we are to make meaningful assessments of therapeutic efficacy. Is it the short stature, in and of itself, that affects the quality of life for children with skeletal dysplasias or are the other complications more important determinants? We sought to address the effect of height by the use of questionnaire designed specifically for short stature; QoLissy. This questionnaire has been validated for use in Europe across several languages. Our study included 8 families with children between 8 and 18 years with a variety of skeletal dysplasia diagnoses. The results indicate a relatively low health-related quality of life from the child and parents' perspective, good coping strategies and, interestingly, a difference in perception of quality of life between parents and children, with parents rating the quality of life lower than their children. These results highlight the need for a more careful dissection of quality of life-influencers before deciding on how to assess drug efficacy and before advocating for multi-year therapy in children.
