REPORTED OUTCOMES AND READINESS FOR PRECISION MEDICINE IN HCN1-RELATED EPILEPSY: A CROSS-SECTIONAL QUESTIONNAIRE STUDY

Abstract

Background: HCN1-related epilepsy is an exceptionally rare neurodevelopmental condition with early-onset seizures, developmental delay and behavioral issues. Recent genetic diagnostic discoveries show precision medicine may adapt therapies based on molecular and patient-specific data. The precision of medicine also relies on patients' and caregivers' willingness to accept genetic-based therapy and the validity of PRO measures that represent their lived experience. The psychometric validation in epilepsy research is growing, however HCN1-related epilepsy has received little attention.

Objective: This study examined the psychometric characteristics associated with patient-reported outcomes and precision medicine preparedness in HCN1-related epilepsy patients and caregivers.

Methods: About 200 HCN1-related epilepsy patients and caregivers completed a cross-sectional online questionnaire. The validated measures observed health-related quality of life, treatment attitudes and precision medicine preparedness. The testing reliability and construct validity involved Cronbach's α and McDonald's ω and confirmatory factor analysis (CFA). The inter-scale correlations are used to examined convergent and discriminant validity.

Results: All scales showed high internal consistency (α = 0.78–0.92). The CFA indicated a three-factor structure with perceived benefit, information engagement and genetic trust (CFI = 0.94; RMSEA = 0.05). The precision medicine acceptance significantly affects treatment satisfaction and quality-of-life (r = 0.42–0.56, p <.01). Conclusion: The PROs measuring precision medicine readiness in HCN1-related epilepsy can use the data psychometrically. These established markers can enhance clinical decision-making and therapy tailoring in rare epileptic encephalopathies.