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Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers
Jana Domínguez-Carral1, Carola Reinhard2,3, Luca Soliani3,4,5
1Epilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
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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