Predictors of time to diagnosis of Huntington disease patients followed up at a specialized healthcare institution in Peru

Abstract

Introduction: Huntington’s disease (HD) is a neurodegenerative disorder whose definitive diagnosis is made through genetic testing. The time to diagnosis (TTD), that is, the interval between the appearance of the first symptom and the definitive diagnosis is variable, with initial studies suggesting a TTD ranging from 3.5 to nearly 5 years in Australasia, North America and three Latin American countries, there are no previous studies on TTD in HD in the Peruvian population. This study analyzes the predictors with TTD in HD patients treated at a specialized institute in Peru. Methods: Retrospective cohort study with review of clinical records and prospective application of a questionnaire (February 2024-February 2025) to 130 individuals over 18 years old with a molecular diagnosis of HD, treated at a specialized institute. Demographic, clinical, and some social determinants of health predictors were analyzed using multivariate linear regression to identify those associated with the time to HD diagnosis. Results: The mean TTD, from the first symptom to the genetic diagnosis was 5.8 ± 5.7 years. HD individuals whose first medical care was at a local/regional hospital, a higher number of physicians involved, public health insurance, being retired or dedicated to household tasks, as well as age (at first symptom, clinical diagnosis, and genetic diagnosis) showed a statistically significant association as predictors of TTD, regardless of sex, years of education, health insurance, employment, age at first symptom, or delay due to COVID-19. Conclusions: The type of healthcare facility initially consulted, a higher number of physicians involved in the diagnosis, certain employment conditions, and the ages at first medical care and diagnosis suggest the need to improve the quality and accessibility of healthcare services involved in the management of HD.