Abstract
Background
Children with congenital anomalies are at an increased risk of developing epilepsy, but the relative risk 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 congenital anomalies compared to children without anomalies.
Methods
We utilized data from six European regions participating in the EUROCAT registries, covering births from 2000 to 2015. Children with major congenital anomalies, classified by International Classification of Diseases (ICD) codes, were compared to a reference population without anomalies. Epilepsy was identified based on >1 ASM prescription within a year. Relative risks (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, ASM prevalence was 17.8 per 1,000 in anomaly groups and 2.0 per 1,000 in reference children. The highest RRs were observed in children with central nervous system (CNS) anomalies, including anomalies of the corpus callosum, severe microcephaly, and hydrocephalus. Comparable RRs were found in children with severe congenital heart defects (CHD) and gastrointestinal anomalies, primarily driven by diaphragmatic hernia.
Conclusion
Children with congenital anomalies have a significantly higher risk of epilepsy, with CNS, chromosomal, severe CHD, 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.
Children with congenital anomalies are at an increased risk of developing epilepsy, but the relative risk 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 congenital anomalies compared to children without anomalies.
Methods
We utilized data from six European regions participating in the EUROCAT registries, covering births from 2000 to 2015. Children with major congenital anomalies, classified by International Classification of Diseases (ICD) codes, were compared to a reference population without anomalies. Epilepsy was identified based on >1 ASM prescription within a year. Relative risks (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, ASM prevalence was 17.8 per 1,000 in anomaly groups and 2.0 per 1,000 in reference children. The highest RRs were observed in children with central nervous system (CNS) anomalies, including anomalies of the corpus callosum, severe microcephaly, and hydrocephalus. Comparable RRs were found in children with severe congenital heart defects (CHD) and gastrointestinal anomalies, primarily driven by diaphragmatic hernia.
Conclusion
Children with congenital anomalies have a significantly higher risk of epilepsy, with CNS, chromosomal, severe CHD, 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.
| Original language | English |
|---|---|
| Pages (from-to) | 56-61 |
| Number of pages | 6 |
| Journal | Pediatric Neurology |
| Volume | 177 |
| Early online date | 10 Jan 2026 |
| DOIs | |
| Publication status | Published online - 10 Jan 2026 |
Bibliographical note
Publisher Copyright:© 2026
Funding
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 733001. The funders had no role in the study.
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- congenital anomalies
- epilepsy
- antiseizure medication
- EUROCAT
- pediatric neurology
- Antiseizure medication
- Congenital anomalies
- Epilepsy
- Pediatric neurology
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