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Autism and Epilepsy in Patients With Tuberous Sclerosis Complex
Nicola Specchio1,2, Nicola Pietrafusa1, Marina Trivisano1
1Rare and Complex Epilepsy Unit, Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Frontiers in Neurology
|August 28, 2020
Summary
Tuberous Sclerosis Complex (TSC) patients have a high risk of epilepsy and autism spectrum disorder (ASD). This review found that 33.7% of TSC patients have both conditions, with TSC2 genetic variants common in those with ASD.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Tuberous Sclerosis Complex (TSC) is associated with increased risks of epilepsy and autism spectrum disorder (ASD).
- The intricate relationship and underlying neurobiological mechanisms between TSC, ASD, and epilepsy remain poorly understood.
- Existing research presents challenges in interpretation due to variations in diagnostic criteria and methodologies.
Approach:
- A systematic review of published articles from January 2004 to May 2019 was conducted.
- Databases searched included PubMed, EMBASE, and CENTRAL, focusing on studies reporting prevalence, odds ratios, or rates of ASD comorbidity in individuals with TSC-associated epilepsy.
- Thirty-six articles, encompassing 2,666 TSC patients, were included to analyze the interrelationship and identify risk factors.
Key Points:
- 33.7% of TSC patients in the review had both epilepsy and autism spectrum disorder.
- TSC patients with ASD experienced more frequent seizures and earlier epilepsy onset.
- Neurological factors like increased dysplastic brain features, early seizure onset (<2 years), and >3 tubers were linked to refractory epilepsy in TSC patients with ASD.
- The genetic variant TSC2 was present in 73.2% of all patients and 85.6% of those with both TSC and ASD.
- The bidirectional relationship between epilepsy and ASD in TSC is complex, with infantile spasms also increasing ASD likelihood.
Conclusions:
- The complex interplay between TSC, ASD, and epilepsy necessitates further research into neurobiological underpinnings for improved management strategies.
- Early identification and intervention are crucial for optimizing outcomes in vulnerable TSC populations.
- Addressing methodological and diagnostic variations across studies is essential for clearer interpretation and future research.
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