Influence of seizures on early development in tuberous sclerosis complex
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Updated: Mar 3, 2026
Behavioral Characterization of Pentylenetetrazole-induced Seizures: Moving Beyond the Racine Scale
Published on: July 8, 2025
Jamie K Capal1, Beatriz Bernardino-Cuesta2, Paul S Horn1
1Department of Neurology MLC 2015, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Insights
Early seizures in Tuberous Sclerosis Complex (TSC) negatively impact infant development. Seizure onset age is the most critical factor for long-term developmental outcomes in children with TSC.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Genetics
Background:
- Tuberous Sclerosis Complex (TSC) is frequently associated with epilepsy.
- The impact of seizures on neurodevelopment in TSC is not fully understood, especially in early childhood.
- Prospective, longitudinal data are needed to clarify this relationship.
Purpose of the Study:
- To investigate the relationship between seizures and early developmental outcomes in infants with TSC.
- To identify specific seizure characteristics that predict developmental trajectories.
Main Methods:
- Analysis of 130 infants (0-36 months) with TSC from a multicenter, prospective observational study.
- Longitudinal evaluations included cognitive, adaptive, and autism spectrum disorder (ASD)-specific measures.
- Continuous seizure history collection (type, frequency, onset age).
Main Results:
- Infants with seizures showed poorer developmental outcomes compared to those without seizures at all time points.
- Infantile spasms were associated with worse outcomes at 12, 18, and 24 months.
- Earlier seizure onset and higher seizure frequency correlated with more significant developmental delays, with onset age being the strongest predictor.
Conclusions:
- Early seizure onset in TSC significantly impacts neurodevelopment from infancy through 24 months.
- Age of seizure onset is a critical determinant of developmental outcomes in young children with TSC.
- These findings underscore the importance of early seizure management in TSC for optimizing developmental trajectories.
Objective:
Epilepsy is commonly seen in Tuberous Sclerosis Complex (TSC). The relationship between seizures and developmental outcomes has been reported, but few studies have examined this relationship in a prospective, longitudinal manner. The objective of the study was to evaluate the relationship between seizures and early development in TSC.
Methods:
Analysis of 130 patients ages 0-36months with TSC participating in the TSC Autism Center of Excellence Network, a large multicenter, prospective observational study evaluating biomarkers predictive of autism spectrum disorder (ASD), was performed. Infants were evaluated longitudinally with standardized evaluations, including cognitive, adaptive, and autism-specific measures. Seizure history was collected continuously throughout, including seizure type and frequency.
Results:
Data were analyzed at 6, 12, 18, and 24months of age. Patients without a history of seizures performed better on all developmental assessments at all time points compared to patients with a history of seizures and exhibited normal development at 24months. Patients with a history of seizures not only performed worse, but developmental progress lagged behind the group without seizures. All patients with a history of infantile spasms performed worse on all developmental assessments at 12, 18, and 24months. Higher seizure frequency correlated with poorer outcomes on developmental testing at all time points, but particularly at 12months and beyond. Patients with higher seizure frequency during infancy continued to perform worse developmentally through 24months. A logistic model looking at the individual impact of infantile spasms, seizure frequency, and age of seizure onset as predictors of developmental delay revealed that age of seizure onset was the most important factor in determining developmental outcome.
Conclusions:
Results of this study further define the relationship between seizures and developmental outcomes in young children with TSC. Early seizure onset in infants with TSC negatively impacts very early neurodevelopment, which persists through 24months of age.
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