Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
Por:
Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD
Publicada:
1 oct 2025
Ahead of Print:
25 abr 2025
Resumen:
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.
Filiaciones:
Domínguez-Carral J:
Epilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Reinhard C:
Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany
European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany
Soliani L:
European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany
IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy
Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy
Cif L:
Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France
Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland
Laboratoire de Recherche en Neurosciences Cliniques, Montferrier-sur-Lez, France
Ortigoza-Escobar JD:
European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany
Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
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