Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders

Deep brain stimulation (DBS) is an advanced treatment for individuals with GNAO1-related disorders (GNAO1-RD), which are characterized by severe movement abnormalities such as status dystonicus and dyskinetic crises. Decision-making surrounding DBS is complex and influenced by medical, emotional, and logistical factors. This study aimed to explore caregiver perspectives on the decision-making process, including influencing factors and family experiences.

A European Union survey was administered to caregivers of individuals with genetically confirmed GNAO1-RD who had undergone DBS. The survey collected data on demographics, clinical features, decision-making factors, and postoperative experiences. Quantitative data were descriptively analyzed whereas qualitative data were thematically analyzed.

Twelve caregivers from ten countries participated, with individuals who underwent DBS at a median age of 10.69 years and follow-up durations ranging from <1 to 8.9 years. The primary indication was the management of status dystonicus and dyskinetic crises (9/12). The decision was categorized as urgent in nine of 12 cases. Factors influencing the decision included long-term quality of life, DBS effectiveness, prevention of hospitalizations, and surgeon expertise. Postoperatively, eight of 12 families reported significant reductions in status dystonicus and dyskinetic crises, with improvements observed within days to months. Challenges included inadequate preoperative information, rushed decisions due to medical urgency, and emotional tolls.

DBS is perceived by caregivers as a life-saving intervention for GNAO1-RD, effectively reducing dyskinetic crises and status dystonicus while improving quality of life. DBS decision-making is highly complex and emotionally taxing. Enhanced communication, evidence-based guidance, and caregiver support are critical to empowering families during this process.