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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
Summary
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.
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