Related Experiment Video
Updated: Dec 13, 2025
08:44
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
305
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.
Annals of Clinical and Translational Neurology
|July 25, 2020
Summary
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.
Related Concept Videos
01:19Autism Spectrum Disorder
783
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
783
01:24Epilepsy and Seizures: Overview
1.0K
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
1.0K
01:13Seizures: Classification
1.2K
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
1.2K
01:20Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
693
Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
693