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

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. 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. 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). 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.