Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies
Por:
Domínguez-Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L and Ortigoza-Escobar JD
Publicada:
6 jun 2024
Ahead of Print:
6 jun 2024
Resumen:
Background GNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary movements, present a significant challenge in GNAO1-RD. Objectives This study aimed to establish a standardized framework for understanding dyskinetic crises, addressing crucial aspects such as definition, triggers, diagnostic criteria, complications, and management strategies. Methods A Delphi consensus process was conducted involving international experts in GNAO1-RD. The panel of thirteen experts participated in three voting rounds, discussing 90 statements generated through a literature review and clinical expertise. Results Consensus was achieved on 31 statements, defining dyskinetic crises as abrupt, paroxysmal episodes involving distinct abnormal movements in multiple body regions, triggered by emotional stress or infections. Dyskinetic crises may lead to functional impairment and complications, emphasizing the need for prompt recognition. While individualized pharmacological recommendations were not provided, benzodiazepines and clonidine were suggested for acute crisis management. Chronic treatment options included tetrabenazine, benzodiazepines, gabapentin, and clonidine. Deep brain stimulation should be considered early in the treatment of refractory or prolonged dyskinetic crisis. Conclusion This consensus provides a foundation for understanding and managing dyskinetic crises in GNAO1-RD for clinicians, caregivers, and researchers. The study emphasizes the importance of targeted parental and caregiver education, which enables early recognition and intervention, thereby potentially minimizing both short- and long-term complications. Future research should concentrate on differentiating dyskinetic crises from other neurological events and investigating potential risk factors that influence their occurrence and nature. The proposed standardized framework improves clinical management, stakeholder communication, and future GNAO1-RD research.
Filiaciones:
Domínguez-Carral J:
Member of the ERN EpiCARE, Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain
Reinhard C:
Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany
European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany
Ebrahimi-Fakhari D:
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States
Dorison N:
Dyspa Unit, Pediatric Neurosurgery, Hôpital Fondation Rothschild, Paris, France
Galosi S:
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
Garone G:
Neurology, Epilepsy and Movement Disorders Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy
Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy
Malenica M:
Member of the ERN EpiCARE, Department of Pediatrics, University Hospital Center Sestre Milosrdnice, Zagreb, Croatia
Ravelli C:
Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, Centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, Paris, France
Serdaroglu E:
Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Türkiye
van de Pol LA:
Emma Children's Hospital, Amsterdam Universitary Medical Centers, Amsterdam, Netherlands
Department of Child Neurology, Amsterdam Universitary Medical Centers, Vrije Universiteit, Amsterdam, Netherlands
Koy A:
Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Leuzzi V:
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
Roubertie A:
CHU Montpellier, Département de Neuropédiatrie, INM, Université de Montpellier, Inserm U, Montpellier, France
Lin JP:
Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom
Women and Children's Institute, Faculty of Life Sciences and Medicine (FolSM), King's College London, London, United Kingdom
Doummar D:
Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, Centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, Paris, France
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, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain
U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
Green Published, Green Submitted, gold
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