Mortality and fracture risk in children with osteogenesis imperfecta: Results from the French nationwide hospital discharge database

Introduction

Osteogenesis imperfecta (OI) is a rare genetic disorder causing bone fragility and recurrent fractures. Few studies have assessed its burden using health claims data. This study evaluated immediate and long-term mortality and fracture risk in children with OI.

Methods

This historical cohort included children with a first inpatient stay recording an OI diagnosis, from the French nationwide hospital discharge database (2014–2022). Children born before 2014 were excluded. Based on age at index stay, patients were classified as newborns (≤1 month), infants (>1–<24 months), or children (≥2 years). Immediate mortality (during the index stay or after same-day transfer) and long-term mortality were analyzed along with fracture risk using descriptive statistics, Kaplan-Meier estimates, and Cox models.

Results

A total of 658 patients (5849 stays) were included (mean age 1.59 years): 30.2 % were newborns, 18.1 % infants, and 51.7 % children. Seventy-nine children (12.0 %) died, with immediate mortality higher in newborns (30.2 %) than infants (8.4 %) and children (0.9 %) (p < 0.001). Stillbirth accounted for 69.9 % of deaths. Six-month survival for newborns was 68.3 % (95 % CI [62.2–75.1]). At index stay, 146 patients (22.2 %) had fractures, mainly femoral (50.7 %). During follow-up, 17.9 % presented a high fracture rate (>0.5/year). 46.9 % of patients were high care users (≥1 stay/year).

Conclusion

Newborns with OI face significantly higher immediate and long-term in-hospital mortality than infants and children, and 126 times higher than that of the general population. Mortality remained stable post-2017 despite national guidelines. A quarter of patients had fractures at index stay, half of which involved the femur.