Gelastic spells in Angelman Syndrome, when laughter isn’t funny
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-03-01
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| Series: | Epilepsy & Behavior Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986425000115 |
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| author | Natasha Varughese Femke Horn Robert P. Carson |
| author_facet | Natasha Varughese Femke Horn Robert P. Carson |
| author_sort | Natasha Varughese |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-28cdee7d87144d62a9da335535a7cde7 |
| institution | OA Journals |
| issn | 2589-9864 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj-art-28cdee7d87144d62a9da335535a7cde72025-08-20T01:58:27ZengElsevierEpilepsy & Behavior Reports2589-98642025-03-012910075110.1016/j.ebr.2025.100751Gelastic spells in Angelman Syndrome, when laughter isn’t funnyNatasha Varughese0Femke Horn1Robert P. Carson2Monroe Carell Jr. Children’s Hospital at Vanderbilt, 2200 Children’s Way, Nashville, TN, 27232, USAMonroe Carell Jr. Children’s Hospital at Vanderbilt, 2200 Children’s Way, Nashville, TN, 27232, USA; NV, UT Health Sciences Center, San Antonio, TX, USAMonroe Carell Jr. Children’s Hospital at Vanderbilt, 2200 Children’s Way, Nashville, TN, 27232, USA; FH and RPC, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, TN, USA; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2589986425000115Angelman SyndromeGelastic syncopeLaughterGelastic seizuresCataplexy |
| spellingShingle | Natasha Varughese Femke Horn Robert P. Carson Gelastic spells in Angelman Syndrome, when laughter isn’t funny Epilepsy & Behavior Reports Angelman Syndrome Gelastic syncope Laughter Gelastic seizures Cataplexy |
| title | Gelastic spells in Angelman Syndrome, when laughter isn’t funny |
| title_full | Gelastic spells in Angelman Syndrome, when laughter isn’t funny |
| title_fullStr | Gelastic spells in Angelman Syndrome, when laughter isn’t funny |
| title_full_unstemmed | Gelastic spells in Angelman Syndrome, when laughter isn’t funny |
| title_short | Gelastic spells in Angelman Syndrome, when laughter isn’t funny |
| title_sort | gelastic spells in angelman syndrome when laughter isn t funny |
| topic | Angelman Syndrome Gelastic syncope Laughter Gelastic seizures Cataplexy |
| url | http://www.sciencedirect.com/science/article/pii/S2589986425000115 |
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