Predictors of time to diagnosis in monogenic neurological disorders from a referral center in Peru

Care for monogenic neurological disorders (MNDs) in resource-limited regions is constrained, resulting in delayed diagnosis. We estimated time to diagnosis (TTD) and associated factors in 248 adult individuals with MNDs from a national neurogenetic referral center in Peru. A questionnaire-based study was conducted from February 2024 to March 2025, assessing demographics, clinical features, and diagnostic timelines. The mean TTD in this cohort was 8.5 years, with a health system delay (HSD) of 4.3 years. Factors associated with longer TTD included employment status, healthcare facility, and restricted access to physicians. Distance to the diagnostic center showed no association with TTD, and geospatial analysis showed no global or local clustering, suggesting diagnostic delays are primarily driven by systemic and social rather than geographic factors. Future initiatives should address these barriers to enable earlier diagnosis and improve prognostic outcomes for patients with MNDs.