Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
BACKGROUND: GNAO1-related disorders (GNAO1-RD) encompass developmental delay, epilepsy and movement disorders, including dyskinetic crises. OBJECTIVES: To explore the characteristics of dyskinetic crises in GNAO1-RD, their impact and the challenges parents face. METHODS: A cross-sectional EU survey...
| Autores: | , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Fundació Sant Joan de Déu |
| Repositorio: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p28538 |
| Acceso en línea: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=28538 |
| Access Level: | acceso abierto |
| Palabra clave: | GNAO1 dyskinetic crisis |
| Sumario: | BACKGROUND: GNAO1-related disorders (GNAO1-RD) encompass developmental delay, epilepsy and movement disorders, including dyskinetic crises. OBJECTIVES: To explore the characteristics of dyskinetic crises in GNAO1-RD, their impact and the challenges parents face. METHODS: A cross-sectional EU survey of 26 parents of children with GNAO1-RD collected demographic, clinical, and management-related data. RESULTS: Dyskinetic crises were experienced by 80% of children. They began at a mean age of 4.17 ± 2.61 years and varied widely in frequency and duration, with triggers including infections and emotions. Dyskinetic crises significantly impacted quality of life (QoL), motor function, and emotional well-being. Medications were variably effective, and 10 children underwent deep brain stimulation with mixed outcomes. Parents reported challenges in managing crises and accessing support services, with financial burdens. CONCLUSIONS: Dyskinetic crises in GNAO1-RD significantly impact QoL and present complex management challenges. Variability in outcomes underscores the need for optimized treatment protocols, better coordination, and accessible resources for affected families. |
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