Introduction

Osteogenesis imperfecta (OI), a rare condition, profoundly impacts a child’s life. It leads to mobility issues, deformities from frequent fractures, psychosocial and mental-emotional issues, and, indirectly, financial problems that can compromise quality of life (QoL). Clinical severity, classified as mild-moderate or severe, is linked to the overall disease burden.

Aim of the study

The objective of the study was to determine how QoL in OI patients is associated with physical, mental-emotional, psychosocial, and socioeconomic problems.

Material and methods

We conducted a cross-sectional study using questionnaires (PEDS QL 4.0 for QoL, SDQ for mental-emotional problems, PSC-17 for psychosocial problems, and World Bank for assessing financial problems) on OI patients aged 4–18 years in Jakarta, Indonesia. Both parents and patients filled out the questionnaires.

Results

Fifty subjects participated in this study. Parent-reported QoL was associated with the severity of disease (PR = 3.429, p = 0.029) and there was an association of patient-reported QoL with compliance to bisphosphonate therapy (PR = 3.167, p = 0.043) and short stature (PR = 3.36, p = 0.014). Both parent- and patient-reported QoL were strongly associated with the physical and psychosocial problems domain of the PEDS QL 4.0 (p < 0.001).

Conclusions

Evaluating OI patients should prioritise QoL because more severe OI is associated with more severe QoL problems. No evidence of association was found between OI disease severity and family income.