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Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort
Fiona S McEwen1,2,3, Abigail K Runicles2,4, Holan Liang5,6
1Department of War Studies, King's College London, London, UK.
Epilepsia
|August 10, 2026
Summary
Tuberous sclerosis complex (TSC) and autism share developmental links. Genetic mutations in TSC can lead to brain abnormalities and early epilepsy, increasing autism risk in children.
Area of Science:
- Neurodevelopmental disorders
- Genetics
- Epilepsy
Background:
- The link between autism spectrum disorder (autism) and tuberous sclerosis complex (TSC) is known.
- Developmental pathways connecting genetic mutations, brain pathology, and epilepsy to autism in TSC are not fully understood.
Purpose of the Study:
- To investigate the longitudinal developmental pathways linking genetic mutations in TSC to autism.
- To explore the roles of cortical pathology and epilepsy in the development of autism in children with TSC.
Main Methods:
- Recruited 125 children newly diagnosed with TSC, collecting data on mutation status, cortical tuber burden, seizures, and cognition.
- Conducted follow-up assessments approximately 10 years later on autism, cognition, and epilepsy in 86 participants.
- Utilized structural equation modeling to identify developmental pathways.
Main Results:
- Nearly 40% of participants met autism criteria, with 42% showing elevated autistic traits.
- Identified two indirect pathways from TSC1/TSC2 mutation to autism: via cortical tuber burden and infantile spasms, or via spasms alone.
- Higher seizure severity and lower IQ scores correlated with increased autism factor scores.
Conclusions:
- Findings suggest longitudinal associations between genetic vulnerability, cortical pathology, and early epilepsy with later autism in TSC.
- Emphasizes the need to study early epileptic activity and neurodevelopmental outcomes in TSC.
- May enhance understanding of epilepsy-related pathways contributing to autism.
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