Pediatric Movement Disorders at a Tertiary Referral Center in Bogotá: Clinical and Epidemiological Experience From Colombia.

BACKGROUND

Pediatric movement disorders (MDs) in Latin America are undercharacterized, limiting timely diagnosis and access to advanced therapies. Our aim is describe the clinical and etiological profile of pediatric MDs at a Colombian tertiary referral center and identify factors associated with diagnostic delay.

METHODS

We conducted a retrospective cohort study of 210 consecutive patients aged 0-18 years evaluated at a specialized pediatric MD clinic in Bogotá (January 2022-June 2025). All patients underwent standardized diagnostic protocols including comprehensive phenotyping, etiological workup, and treatment documentation. Multivariable logistic regression assessed predictors of diagnostic delay >12 months.

RESULTS

Males comprised 57.6% (121/210). Median age at symptom onset was 18 months (interquartile range 6-82) and at first consultation 127 months (interquartile range 66-173). Primary phenotypes in this tertiary referral center were dystonia 33.3% (70/210), tics 14.3% (30/210), and tremor 10.9% (23/210); 33.3% (70/210) had mixed presentations. Etiologies included structural 27.6% (58/210), nonmetabolic genetic 14.8% (31/210), and unidentified 30.5% (64/210). Median diagnostic delay was 18.5 months with 64.9% (135/208) exceeding 12 months. Patients outside Bogotá experienced longer delays (36 vs 18 months, P < 0.001). Nonmetabolic genetic etiology independently predicted prolonged delay (odds ratio 6.36, 95% confidence interval 1.77-22.83). Intellectual disability affected 33.2% (69/208) and epilepsy 19.4% (40/206).

CONCLUSIONS

This tertiary referral center data reveals high dystonia burden, substantial unidentified etiologies (30.5%), and prolonged diagnostic delays in Colombian pediatric MDs. Immediate priorities include expanding genomic testing access, establishing telemedicine networks for rural populations, and implementing fast-track diagnostic pathways to reduce delays and optimize therapeutic outcomes in middle-income settings.