Trial Parameters
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Brief Summary
This study evaluates a diagnostic support platform, DIAGEN-IA, designed to identify pediatric neurological diseases with a genetic basis. Conducted at Carlos Van Buren Hospital in Chile, it aims to determine if the platform reduces inappropriate referrals to clinical geneticists, improves diagnostic evaluations, enhances referral quality, and increases user satisfaction. A prospective before-and-after design will compare outcomes across two phases: baseline data collection and an intervention phase using DIAGEN-IA. Healthcare professionals will use the platform to guide referrals and diagnostic studies. Outcomes include referral appropriateness, completeness of evaluations, quality of referrals, and user satisfaction.
Eligibility Criteria
Inclusion Criteria: * Neuropediatricians working in the Carlos Van Buren Hospital. * Participants providing care to pediatric patients (under 18 years of age). * Native Spanish speakers or those with certified C1-level Spanish proficiency according to the Common European Framework of Reference for Languages. * Professionals responsible for referring pediatric patients with suspected rare diseases to a clinical geneticist. Exclusion Criteria: * Refusal to participate.