ESPE Yearbook of Paediatric Endocrinology

In Brief: Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous disorder which leads to significantly reduced quality of life (QoL) and high morbidity primarily due to frequent fractures, musculoskeletal pain, reduced mobility and loss of ambulation. This meta-analysis shows that QoL is significantly lower in children and adults with OI compared to normative data and controls.

Commentary: Quality of life (QoL) is a multidimensional concept that includes wide-ranging constructs such as functional status, emotional functioning, health perceptions, and social functioning. Measuring QoL in OI is important because it captures personal experiences and therefore is vital to guide the successful implementation of interventions and the assessment of novel treatments. Because of clinical heterogeneity, QoL is expected to vary between various subtypes of OI.

This meta-analysis investigate if and how individuals with OI differ from healthy controls regarding QoL, and if and how QoL differs among different OI subtypes. Nine databases were searched using predefined keywords, exclusion and inclusion criteria. Study quality was assessed using a risk of bias tool.

Two studies featuring children and adolescents (n=189), and four studies on adults (n=760) were identified for meta-analysis. Children with OI had significantly lower QoL on the pediatric quality of life inventory (PedsQL) with regards to the total score, emotional, school, and social functioning compared to controls and norms. There was insufficient data to calculate differences between OI subtypes. Studies in adults used the Short Form Health Survey Questionnaire, 12 (SF-12) and 36 items (SF-36). Adults with all OI types showed significantly lower QoL levels across all physical component subscales compared to norms. The same pattern was found for the mental component subscales namely vitality, social functioning, and emotional role functioning. The mental health subscale was significantly lower for OI type I, but not for types III and IV and was not related to clinical severity of OI. All the included studies showed low risk of bias.

The implication of poorer emotional, school, and social functioning in children with OI is that they should be supported in their schools, which should also improve their emotional and social functioning.