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Early development and epilepsy in tuberous sclerosis complex: A prospective longitudinal study
Natasha Lindsay1, Abigail Runicles1, Mark H Johnson2,3
1Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Insights
Infants with tuberous sclerosis complex (TSC) show developmental delays starting at 10 months and adaptive behavior issues from 18 months. Early epilepsy severity significantly impacts these delays, highlighting the need for early intervention.
Area of Science:
- Neurodevelopmental disorders
- Pediatric neurology
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder causing tumors in various organs, including the brain.
- Early developmental trajectories in infants with TSC are not fully understood.
- The influence of epilepsy on early development in TSC is a critical area for research.
Purpose of the Study:
- To characterize early changes in developmental ability, language, and adaptive behavior in infants with TSC.
- To determine if clinical features of epilepsy influence developmental pathways in infants with TSC.
Main Methods:
- Prospective, longitudinal study (Early Development in Tuberous Sclerosis - EDiTS Study) comparing infants with TSC (n=32) to typically developing infants (n=33).
- Data collected between 3 and 24 months of age at up to seven timepoints.
- Utilized questionnaire and observational measures for adaptive behavior, developmental ability, language, and epilepsy assessment.
Main Results:
- Infants with TSC exhibited significantly lower adaptive functioning from 18-24 months and lower developmental ability from 10 months compared to controls.
- Early epilepsy severity predicted impaired developmental and adaptive behavior delays (R²=0.35 and R²=0.34, respectively).
- Language scores (vocabulary production and comprehension) at 24 months were not associated with epilepsy severity in infants with TSC.
Conclusions:
- Developmental ability and adaptive functioning diverge in infants with TSC starting at 10 and 18 months, respectively.
- Early epilepsy severity is linked to impaired development, underscoring the importance of early intervention to mitigate seizure severity.
- Targeted interventions focusing on seizure control may improve developmental outcomes in infants with TSC.
Aim:
To characterize early changes in developmental ability, language, and adaptive behaviour in infants diagnosed with tuberous sclerosis complex (TSC), and determine whether clinical features of epilepsy influence this pathway.
Method:
Prospective, longitudinal data were collected within the Early Development in Tuberous Sclerosis (EDiTS) Study to track development of infants with TSC (n = 32) and typically developing infants (n = 33) between 3 and 24 months of age. Questionnaire and observational measures were used at up to seven timepoints to assess infants' adaptive behaviour, developmental ability, language, and epilepsy.
Results:
A significant group by age interaction effect showed that infants with TSC had lower adaptive functioning at 18 to 24 months old (intercept = 88.12, slope estimate = -0.82, p < 0.001) and lower developmental ability scores from 10 months old (intercept = 83.33, slope estimate = -1.44, p < 0.001) compared to typically developing infants. Early epilepsy severity was a significant predictor of these emerging developmental (R2 = 0.35, p = 0.004, 95% confidence interval [CI] -0.08 to -0.01) and adaptive behaviour delays (R2 = 0.34, p = 0.004, 95% CI -0.05 to -0.01]). Lower vocabulary production (intercept = -1.25, slope = -0.12, p < 0.001) and comprehension scores (intercept = 2.39, slope estimate = -0.05, p < 0.001) in infants with TSC at 24 months old were not associated with epilepsy severity.
Interpretation:
Divergence of developmental ability and adaptive functioning skills occur in infants with TSC from 10 and 18 months, respectively. Associations between early epilepsy severity and impaired development supports the importance of early intervention to reduce seizure severity.
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