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Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Romina Moavero1,2, Katarzyna Kotulska3, Lieven Lagae4
1Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Via Montpellier 1, Rome, 00133, Italy.
Insights
Epilepsy in infants with Tuberous Sclerosis Complex (TSC) is linked to higher risks of Autism Spectrum Disorder (ASD) and developmental delay (DD). Early vigabatrin treatment did not significantly change these neurodevelopmental outcomes by age two.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Developmental Pediatrics
Background:
- Tuberous Sclerosis Complex (TSC) is a genetic disorder associated with a high incidence of epilepsy and neurodevelopmental challenges, including Autism Spectrum Disorder (ASD) and developmental delay (DD).
- The timing of seizure onset and the initiation of anti-epileptic treatment are critical factors potentially influencing neurodevelopmental trajectories in infants with TSC.
Purpose of the Study:
- To investigate the relationship between the age of seizure onset and neurodevelopmental outcomes at 24 months in infants diagnosed with TSC.
- To assess the impact of early versus conventional vigabatrin treatment on neurodevelopmental outcomes in infants with TSC experiencing epileptic seizures.
Main Methods:
- A prospective study enrolled infants with TSC aged 4 months or younger without prior seizures.
- Participants underwent monthly video electroencephalography (EEG) and serial neurodevelopmental assessments using the Bayley Scales of Infant Development and Autism Diagnostic Observation Schedule.
- Eighty infants were included in the analysis.
Main Results:
- At 24 months, 30.0% of children were at risk for ASD and 32.5% for DD.
- Infants with epilepsy showed a significantly higher risk for ASD (P=0.02) and DD (P=0.001) compared to those without seizures.
- Early vigabatrin treatment did not demonstrate a significant difference in the risk of ASD or DD at 24 months compared to conventional treatment (P=0.8 for ASD, P=0.9 for DD).
- Abnormal developmental trajectories were observed in 20% of children before seizure onset, and 21% of those at risk for ASD had not yet developed seizures.
Conclusions:
- Epilepsy in infants with TSC is strongly associated with an increased risk of ASD and DD.
- Early initiation of vigabatrin treatment did not alter the risk of developing ASD or DD by age two in this cohort.
- Neurodevelopmental abnormalities can precede seizure onset in infants with TSC, suggesting a complex interplay of factors influencing outcome.
Objective:
To evaluate the relationship between age at seizure onset and neurodevelopmental outcome at age 24 months in infants with TSC, as well as the effect on neurodevelopmental outcome of early versus conventional treatment of epileptic seizures with vigabatrin (80-150 mg/kg/day).
Methods:
Infants with TSC, aged ≤4 months and without previous seizures were enrolled in a prospective study and closely followed with monthly video EEG and serial standardized neurodevelopmental testing (Bayley Scales of Infant Development and Autism Diagnostic Observation Schedule).
Results:
Eighty infants were enrolled. At the age of 24 months testing identified risk of Autism Spectrum Disorder (ASD) in 24/80 children (30.0%), and developmental delay (DD) in 26/80 (32.5%). Children with epilepsy (51/80; 63.8%) had a higher risk of ASD (P = 0.02) and DD (P = 0.001). Overall, no child presented with moderate or severe DD at 24 months (developmental quotient < 55). In 20% of children abnormal developmental trajectories were detected before the onset of seizures. Furthermore, 21% of all children with risk of ASD at 24 months had not developed seizures at that timepoint. There was no significant difference between early and conventional treatment with respect to rate of risk of ASD (P = 0.8) or DD (P = 0.9) at 24 months.
Interpretation:
This study confirms a relationship between epilepsy and risk of ASD/DD. However, in this combined randomized/open label study, early treatment with vigabatrin did not alter the risk of ASD or DD at age 2 years.
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