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August 13, 2026EpilepsiaOpen Access

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort

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Implication

Longitudinal cohort study examines pathways linking genetic factors and epilepsy to autism in children with TSC.

Key Points

  • This study aims to clarify the developmental pathways connecting tuberous sclerosis complex with autism.
  • Longitudinal cohort study with children newly diagnosed with TSC (N=125) followed for approximately 10 years.
  • Data collected on mutation status, cortical tuber burden, seizure history, and cognitive ability.
  • Follow-up assessments evaluated autism and cognitive ability in 86 participants.
  • Almost 40% of the participants met diagnostic criteria for autism; an additional 42% exhibited elevated autistic traits.
  • Two indirect pathways were identified: one linking mutations and autism via higher cortical tuber burden and seizures, and another via seizures alone.
  • Concurrent seizure severity and lower IQ scores were associated with higher autism factor scores.

Cite This Study

A 2026 study studied this question.

synapsesocial.com/papers/6a7d76062b0e0cff3f63f161https://doi.org/10.1002/epi.70431
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)2021 · 18 citations
  2. 2The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management2011 · 145 citations
  3. 3Understanding relationships between autism, intelligence, and epilepsy: a cross‐disorder approach2012 · 105 citations
  4. 4Heritability of autism spectrum disorders: a meta‐analysis of twin studies2015 · 1,195 citations