Background: Children with congenital anomalies (CAs) are at an increased risk of developing epilepsy, but the relative risk (RR) for specific anomaly subtypes remains underexplored. This study aims to estimate the risk of epilepsy, as indicated by antiseizure medication (ASM) prescriptions, among children with various CAs compared to children without anomalies. Methods: We utilized data from six European regions participating in the European network for surveillance of congenital anomalies registries, covering births from 2000 to 2015. Children with major CAs, classified by International Classification of Diseases codes, were compared to a reference population without anomalies. Epilepsy was identified based on >1 ASM prescription within a year. RRs were calculated using mixed-effects models to account for registry-specific variations. Results: The study included 60,662 children with anomalies and 1,722,912 reference children, with a mean follow-up of 5.5 years. By age 5 years, ASM prevalence was 17.8 per 1000 in anomaly groups and 2.0 per 1000 in reference children. The highest RRs were observed in children with central nervous system anomalies, including anomalies of the corpus callosum, severe microcephaly, and hydrocephalus. Comparable RRs were found in children with severe congenital heart defects and gastrointestinal anomalies, primarily driven by diaphragmatic hernia. Conclusions: Children with CAs have a significantly higher risk of epilepsy, with central nervous system, chromosomal, severe congenital heart defect, and diaphragmatic hernia being key contributors. This study highlights the importance of tailored monitoring and early intervention for high-risk groups to improve neurological outcomes.

Antiseizure Prescription for Children With Severe Congenital Heart Defects and Children With Gastrointestinal Anomalies

Alessio Coi;Michele Santoro;
2026

Abstract

Background: Children with congenital anomalies (CAs) are at an increased risk of developing epilepsy, but the relative risk (RR) for specific anomaly subtypes remains underexplored. This study aims to estimate the risk of epilepsy, as indicated by antiseizure medication (ASM) prescriptions, among children with various CAs compared to children without anomalies. Methods: We utilized data from six European regions participating in the European network for surveillance of congenital anomalies registries, covering births from 2000 to 2015. Children with major CAs, classified by International Classification of Diseases codes, were compared to a reference population without anomalies. Epilepsy was identified based on >1 ASM prescription within a year. RRs were calculated using mixed-effects models to account for registry-specific variations. Results: The study included 60,662 children with anomalies and 1,722,912 reference children, with a mean follow-up of 5.5 years. By age 5 years, ASM prevalence was 17.8 per 1000 in anomaly groups and 2.0 per 1000 in reference children. The highest RRs were observed in children with central nervous system anomalies, including anomalies of the corpus callosum, severe microcephaly, and hydrocephalus. Comparable RRs were found in children with severe congenital heart defects and gastrointestinal anomalies, primarily driven by diaphragmatic hernia. Conclusions: Children with CAs have a significantly higher risk of epilepsy, with central nervous system, chromosomal, severe congenital heart defect, and diaphragmatic hernia being key contributors. This study highlights the importance of tailored monitoring and early intervention for high-risk groups to improve neurological outcomes.
2026
Istituto di Fisiologia Clinica - IFC
Antiseizure medication
Congenital anomalies
Epilepsy
EUROCAT
Pediatric neurology
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/568341
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