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Updated: May 24, 2025
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Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
Published on: October 20, 2023
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Gelastic spells in Angelman Syndrome, when laughter isn't funny
Natasha Varughese1, Femke Horn1,2, Robert P Carson1,3
1Monroe Carell Jr. Children's Hospital at Vanderbilt, 2200 Children's Way, Nashville, TN, 27232, USA.
Epilepsy & Behavior Reports
|March 4, 2025
Summary
This study identifies gelastic syncope, or laugh-related fainting, in individuals with Angelman syndrome (AS). Recognizing this symptom is crucial for managing potential cardiac risks in AS patients.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Angelman syndrome (AS) is a rare neurodevelopmental disorder.
- Individuals with AS often exhibit seizures, movement disorders, and communication impairments.
- Paroxysmal events are common in AS, but specific phenomena require further characterization.
Observation:
- This report details three cases of gelastic spells in individuals with Angelman syndrome.
- The spells, characterized by laughter, were consistent with gelastic syncope.
- A case of breath-holding during laughter was also noted.
Findings:
- Gelastic syncope is identified as a paroxysmal event in Angelman syndrome.
- The differential diagnosis for gelastic spells in AS includes seizures and cataplexy.
- Identification of gelastic syncope is important for assessing cardiac arrhythmia risk.
Implications:
- This research expands the understanding of paroxysmal events in Angelman syndrome.
- It highlights the need for awareness among clinicians and families regarding gelastic syncope.
- Proper identification can guide further evaluation and management of potential cardiac risks.
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