Pediatric neurology · 2026
Pediatric Movement Disorders at a Tertiary Referral Center in Bogotá: Clinical and Epidemiological Experience From Colombia.
СтатьяНазвание и аннотация: Перевод в очереди
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Ramón-Gómez Jorge Luis, Martínez Córdoba Natalia, Lince Rivera Isabella, Bernal Pacheco Óscar
Аннотация
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.
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.