METHODS: Retrospective multicenter cohort study conducted through the DBSMatchMaker platform, including children and young adults with genetically confirmed GNAO1-related disorder treated with bilateral GPi-DBS across 17 centers. The primary outcome was change in dyskinetic crisis burden; secondary outcomes included BFMDRS, Clinical Global Impression (CGI), functional classifications, medication burden, and complications.
RESULTS: Forty-six patients underwent implantation at a mean age of 10.4 ± 4.8 years with mean follow-up of 4.5 ± 3.7 years (longest = 17 years). Over half (52.2%) were implanted emergently during dyskinetic status. Dyskinetic crises were reduced in 38 of 40 patients (95%) and intensive care unit (ICU) admissions in 86.1%. The Burke Fahn Marsden Dystonia Rating Scale (BFMDRS) motor scores improved by 27.5% (p