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

Area of Science:

• Neurology
• Genetics
• Medical Technology

Background:

• GNAO1-related disorders (GNAO1-RD) cause severe movement abnormalities like status dystonicus and dyskinetic crises.
• Deep brain stimulation (DBS) is an advanced treatment option for these debilitating conditions.
• The decision to pursue DBS involves complex medical, emotional, and logistical considerations for affected families.

Purpose of the Study:

• To explore caregiver perspectives on the decision-making process for DBS in GNAO1-RD.
• To identify key factors influencing the decision to undergo DBS.
• To understand the family experiences and challenges associated with DBS treatment.

Main Methods:

• A European Union survey was conducted among caregivers of individuals with genetically confirmed GNAO1-RD who received DBS.
• Data collected included demographics, clinical features, decision-making factors, and postoperative experiences.
• Quantitative data were analyzed descriptively, and qualitative data underwent thematic analysis.

Main Results:

• Twelve caregivers participated, with DBS initiated at a median age of 10.69 years.
• The primary indication for DBS was status dystonicus and dyskinetic crises (9/12), with decisions often urgent (9/12).
• Caregivers reported significant reductions in crises post-DBS (8/12), citing improved quality of life, reduced hospitalizations, and surgeon expertise as key factors. Challenges included insufficient preoperative information and emotional strain.

Conclusions:

• Caregivers perceive DBS as a life-saving intervention for GNAO1-RD, effectively managing crises and enhancing quality of life.
• The decision-making process for DBS is complex and emotionally demanding for families.
• Improved communication, evidence-based guidance, and robust caregiver support are essential for empowering families.