Quality of Life in Short Stature Children With Skeletal Dysplasia: A Cross Sectional Study Using the Quality of Life in Short Stature Youth Questionnaire

Patients with skeletal dysplasia, including achondroplasia (ACH) and osteogenesis imperfecta (OI), exhibit a variety of short stature, which affect various aspects of their quality of life (QoL). The QoL of adult patients with skeletal dysplasia have been reported; however, research on QoL in children remains limited. The QoL in Short Stature Youth (QoLISSY) is a QoL survey tool developed specifically for short stature children and adolescent. We assessed the QoLISSY scores in children with various skeletal dysplasias presenting with short stature and compared the scores among ACH, OI, and other dysplasias. Forty and 72 questionnaires were sent to the children with various skeletal dysplasias and their parents, respectively, and 24 and 54 valid questionnaires, respectively, were collected. There were no significant differences in age, sex, or height between the patients with ACH, OI, and other skeletal dysplasias. Parents' social, emotional, and total QoL scores were significantly lower in the ACH group than in the OI group. A sub-analysis revealed that the height standard deviation score did not correlate with the QoLISSY scores in all groups except for the belief score of OI parents.