Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study

Area of Science:

• Pediatric Neurology
• Neurodevelopmental Disorders

Background:

• Septo-optic dysplasia (SOD) is a congenital condition affecting optic nerve and pituitary development.
• Epilepsy is a known complication, but factors influencing its occurrence in SOD require further elucidation.

Purpose of the Study:

• To identify clinical and neuroimaging factors associated with epilepsy in children diagnosed with septo-optic dysplasia (SOD).

Main Methods:

• A retrospective study identified 107 pediatric patients (<21 years) with SOD between 2013-2023.
• Multivariate binomial regression analysis was employed to predict seizure occurrence.
• Data on neurological examination, developmental status, and brain imaging were analyzed.

Main Results:

• 50.5% of SOD patients experienced seizures, with a median onset at 9 months.
• Abnormal neurological exams (82.6%), global developmental delay (43.0%), autism spectrum disorder (75%), ventriculomegaly, and schizencephaly were significantly associated with seizures.
• No association was found between seizure occurrence and specific combinations of SOD diagnostic criteria.

Conclusions:

• Seizures are highly prevalent in pediatric patients with SOD.
• Comprehensive seizure screening is crucial for all SOD patients, regardless of their specific phenotype or diagnostic criteria.
• Identifying associated factors like developmental delay and brain abnormalities can aid in risk stratification and management.