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Neurodevelopmental and Behavioral Profiles in Children with Tuberous Sclerosis Complex: Exploratory Associations with
Rui Carlos Silva1,2, Tiago S Bara1,3, Daniel A do Valle1,2
1Faculdades Pequeno Principe, Curitiba 80230-020, PR, Brazil.
Insights
Neurodevelopmental disorders are common in children with Tuberous Sclerosis Complex (TSC). Early epilepsy and higher tuber burden may impact cognitive and behavioral outcomes, suggesting a need for ongoing monitoring.
Area of Science:
- Pediatric Neurology
- Neuroscience
- Genetics
Background:
- Tuberous Sclerosis Complex (TSC) is a genetic disorder.
- Neurodevelopmental disorders (NDDs) are common in pediatric TSC.
- Epilepsy and cortical tuber burden are key features of TSC.
Purpose of the Study:
- To characterize NDDs in pediatric TSC patients.
- To explore associations between epilepsy onset, tuber burden, and neurodevelopmental outcomes.
- To investigate the prevalence of autism spectrum disorder and ADHD in TSC.
Main Methods:
- Exploratory cross-sectional study.
- Included 18 pediatric patients with TSC.
- Utilized neuropsychological, behavioral, and neuroimaging assessments.
Main Results:
- High prevalence of NDDs, including autism spectrum disorder and ADHD.
- Epilepsy present in 94.4% of participants; 52.9% pharmacoresistant.
- Trends suggested earlier epilepsy onset linked to poorer cognition and higher tuber burden to dysregulation, though not statistically significant.
Conclusions:
- NDDs are highly prevalent in pediatric TSC.
- Epilepsy characteristics and lesion burden may influence cognitive and behavioral outcomes.
- Systematic multidisciplinary neurodevelopmental monitoring is recommended for children with TSC.
Abstract:
Objective: To characterize neurodevelopmental disorders in children and adolescents with Tuberous Sclerosis Complex (TSC) and explore associations with epilepsy onset and cortical tuber burden. Methods: This exploratory cross-sectional study included 18 children and adolescents with TSC followed at a tertiary pediatric neurology center in Brazil. Standardized neuropsychological, behavioral, and neuroimaging assessments were performed. Participants were stratified according to epilepsy onset and cortical tuber burden. Results: Epilepsy was present in 94.4% of participants, and pharmacoresistance in 52.9%. Neurodevelopmental disorders were highly prevalent, particularly autism spectrum disorder and attention-deficit/hyperactivity disorder, frequently occurring as comorbidities. Children with earlier epilepsy onset demonstrated exploratory trends toward poorer cognitive outcomes, whereas greater cortical tuber burden showed exploratory trends toward greater behavioral and emotional dysregulation, although these differences did not reach statistical significance. Conclusions: Neurodevelopmental disorders are highly prevalent in pediatric TSC. Exploratory findings suggest that epilepsy characteristics and lesion burden may be related to cognitive and behavioral outcomes. These exploratory findings support systematic multidisciplinary neurodevelopmental monitoring in children with TSC.
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