Description

This qualitative study aimed to explore how achondroplasia affects day-to-day functioning and well-being in older children and adolescents. The results revealed five key impact domains, and a theoretical model was developed depicting the experiences.

The medical impacts of achondroplasia in older children and adolescents are well known, but there is limited information around nonmedical impacts, including daily functioning and well-being. This study used interview data from 32 children aged 9–17 to identify key issues in physical health, functioning, school impacts, emotional well-being, and social well-being.

The most often mentioned physical symptom was pain, and the most often mentioned impact on functioning was the use of adaptive devices. In terms of emotional well-being, the most frequently discussed emotional impact was feeling different from others, and for social well-being children reported difficulty participating in sports or physical play, and having to explain achondroplasia to others.

The preliminary theoretical model developed from the experiences of older children living with achondroplasia may be used to inform future research and clinical practice.

EU-ACH-00345