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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
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.
Abstract:
Angelman syndrome (AS) is a neurodevelopmental syndrome characterized by people with a characteristic happy demeanor, impaired expressive communication, sleep disruptions, and a variety of paroxysmal events, including seizures and movement disorders. Herein, we report three cases, one child and two adults with AS, of gelastic (laugh-related) spells. The phenomenology in all three is most consistent with gelastic syncope. A fourth example demonstrating transient breath-holding while laughing is included for reference. We subsequently review the differential for gelastic spells in AS, including seizures and cataplexy, and expound on the importance of their identification in the context of risk factors for cardiac arrhythmia. This work adds gelastic syncope to the list of paroxysmal events in AS and may serve to inform providers and parents of this phenotype and provide guidance for subsequent evaluation and treatment if indicated.
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