Abstract
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with a high risk of early-onset epilepsy and a high prevalence of neurodevelopmental comorbidities, including intellectual disability and autism spectrum disorder (ASD). Therefore, TSC is an interesting disease model to investigate early biomarkers of neurodevelopmental comorbidities when interventions are favourable. We investigated whether early EEG characteristics can be used to predict neurodevelopment in infants with TSC. The first recorded EEG of 64 infants with TSC, enrolled in the international prospective EPISTOP trial (recorded at a median gestational age 42 4/7 weeks) was first visually assessed. EEG characteristics were correlated with ASD risk based on the ADOS-2 score, and cognitive, language, and motor developmental quotients (Bayley Scales of Infant and Toddler Development III) at the age of 24 months. Quantitative EEG analysis was used to validate the relationship between EEG background abnormalities and ASD risk. An abnormal first EEG (OR = 4.1, p-value = 0.027) and more specifically a dysmature EEG background (OR = 4.6, p-value = 0.017) was associated with a higher probability of ASD traits at the age of 24 months. This association between an early abnormal EEG and ASD risk remained significant in a multivariable model, adjusting for mutation and treatment (adjusted OR = 4.2, p-value = 0.029). A dysmature EEG background was also associated with lower cognitive (p-value = 0.029), language (p-value = 0.001), and motor (p-value = 0.017) developmental quotients at the age of 24 months. Our findings suggest that early EEG characteristics in newborns and infants with TSC can be used to predict neurodevelopmental comorbidities.
Highlights
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder affecting ∼1 in 5,800 individuals [1]
When we assessed the relation between early EEG abnormalities and autism spectrum disorder (ASD) risk, we found that 15/36 (42%) children with an abnormal first EEG were diagnosed with ASD symptoms at the age of 24 months, compared to 4/27 (14%) of the children with a normal first EEG
The main finding of our study is that an abnormal first EEG in neonates and infants with TSC, and a dysmature EEG background was associated with a higher probability of ASD traits at the age of 24 months
Summary
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder affecting ∼1 in 5,800 individuals [1]. In 17/20 IED preceded the onset of seizures, by an average interval of 3·6 months [21] A recent quantitative EEG study showed that increased EEG connectivity in infants with TSC preceded the onset of epileptic spasms [22]. EEG assessment was performed blinded to TSC gene mutation, clinical (with exception of the age of the patient) and outcome data and was done using BrainRTTM software version 3·5 (OSG BVBA, Rumst, Belgium). For this EEG study, the first EEG after enrolment was analysed. The results were reported in terms of misclassification error [percentage of misdiagnosis E(%)] and area under the receiver operating curve (AUC)
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