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Intellectual disability and autistic behavior and their modifying factors in children with tuberous sclerosis complex

Sergiusz Jóźwiak1, Paolo Curatolo2, Katarzyna Kotulska3

  • 1Research Department, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Brain & Development
|February 1, 2025
PubMed

Insights

Tuberous sclerosis complex (TSC) is a developmental epileptic encephalopathy. Early identification of high-risk infants and timely interventions can improve neurodevelopmental outcomes for TSC-associated neuropsychiatric disorders (TAND).

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder leading to developmental epileptic encephalopathies.
  • Epilepsy in TSC frequently co-occurs with intellectual disability and autistic behaviors, collectively termed TSC-associated neuropsychiatric disorders (TAND).

Purpose of the Study:

  • To summarize current understanding of TAND in TSC.
  • To identify factors influencing TAND severity and biomarkers for early risk identification.
  • To highlight the importance of early intervention for improved neurodevelopmental outcomes.

Main Methods:

  • Review of clinical, genetic, EEG, and neuroimaging data in TSC patients.
  • Analysis of factors contributing to TAND severity.
  • Identification of predictive biomarkers for intellectual disability and autism spectrum disorder.

Main Results:

  • TAND encompasses a spectrum of cognitive, behavioral, and psychiatric issues in TSC.
  • Severity is linked to genotype (TSC1/TSC2), epilepsy characteristics (onset, type, drug resistance), and tuber burden.
  • Biomarkers aid in identifying infants at high risk for neurodevelopmental impairments.

Conclusions:

  • Early identification of high-risk infants is crucial.
  • Timely intervention targeting seizures and tailored developmental strategies can mitigate TAND.
  • Proactive management can significantly improve neurodevelopmental trajectories in infants with TSC.

Keywords:
EpilepsyModifying factors of neurodevelopmentTuberous sclerosis complex

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