Spinal cord malformations's epidemiology in French children: National cross sectional study based on...

Epidemiological data on rare spinal cord malformations in children are lacking in France. Using the national hospital discharge database (PMSI), we studied the care trajectories and estimated the morbidity and mortality burden of these conditions.

We conducted a nationwide historical cohort study from 2010 to 2020, including children diagnosed with rare spinal cord diseases within the scope of the C-MAVEM network. Cases were identified through ICD-10 codes using a semi-automated, multicenter-validated extraction algorithm (positive predictive value >80%). Incidence and in-hospital mortality rates were estimated for the following conditions: Spina Bifida (SB), Arnold Chiari syndrome (ACS), Syringomyelia and Syringobulbia (SM), Diastematomyelia (DM), and Hydromyelia (HM).

A total of 10,114 children were identified, corresponding to an estimated prevalence of 67 per 100,000. Incidence rates per 100,000 live births were: 2.6 for SB, 2.2 for ACS, 1.0 for SM, 0.2 for DM, and 0.04 for HM. The mortality was 2.5%, 1.7%, 1.1%, 0.95%, no available for HM, respectively. Most patients were treated in university hospitals with considerable heterogeneity in surgical management depending on etiology and associated malformations.

This study provides, for the first time in France, national epidemiological estimates for rare pediatric spinal cord malformations. The use of a validated medico-administrative data extraction approach enables largescale surveillance of these rare conditions, improves understanding of their healthcare burden, and supports planning for specialized care and public health strategies.