Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study

Osteogenesis Imperfecta (OI) is a disease with varying severity affecting physical, social and emotional well-being of the child and their family. There is no existing evidence on how the OI population regard their quality of life (QoL). The main aim of this study was to determine how OI impacts on the quality of life and well-being of children and their family. It is the first stage of a larger project to develop a disease specific quality of life measure for children with OI.

Purposive sampling was used to cover the diversity of the OI population. Twenty-five qualitative interviews were undertaken with children (n = 10), parents (n = 10) and health professionals (n = 5). Interviews were digitally recorded and transcribed verbatim. Significant themes were identified, extracted and organised, undergoing framework analysis.

Six main themes were identified; being safe and careful, reduced function, pain, fear, isolation, independence. There was a large amount of agreement between the three groups of interviewees, although discrepancies did occur between parents and children, with regard to the themes independence and fear.

This data presents the first step in developing items for a disease specific QoL measure for children with OI. Several of the themes uncovered showed similarity to other QoL measures, but the addition of being safe and careful, particularly in relation to fractures, demonstrated the need for a disease specific measure for children with OI.