Living with developmental and/or epileptic encephalopathies: exploring health-related quality of life in children, youth, and their families

Abstract Background Attention to non-seizure outcomes in Developmental and/or Epileptic Encephalopathies (DEs, EEs, DEEs) is growing, and there is increasing interest in understanding key determinants of health-related quality of life (HRQoL) in this population. This study investigates personal and family HRQoL in a real-world pediatric cohort with DEs, EEs, or DEEs and explores predictors of reduced HRQoL. Methods Single-center, cross-sectional study conducted at a tertiary pediatric neurology center. Individuals with DE, EE or DEE aged 1–20 years were enrolled. Patient and family HRQoL were measured using the Pediatric Quality of Life Inventory™ (PedsQL™ Epilepsy Module and PedsQL™ Family Impact Module). Demographics, epilepsy history and functional scores were collected. Analyses included descriptive statistics, Mann-Whitney U tests, Spearman correlations, and exploratory bootstrapped multivariable linear regression models. Results One hundred patients (58 males; mean age: 9.9 ± 4.1 years) and caregivers participated. Patients’ HRQoL was most impaired in Cognitive (16.7/100) and Executive Functioning (25.0/100). Drug-resistant epilepsy was independently associated with lower patient HRQoL across multiple PedsQL™ Epilepsy Module subscales. Additional determinants of poorer patient HRQoL in specific domains included gastrointestinal comorbidities, daily seizures, early epilepsy onset, and higher modified Rankin scale scores. Family HRQoL was also impaired, especially in Worry (35/100) and Daily Activities (41.7/100) subscales. Lower overall Family Impact scores were independently associated with a history of intensive care hospitalization (b = −12.2, p = 0.004), lower patient Sleep/Rest scores (b = 0.3, p = 0.001), and Mood/Behavior scores (b = 0.2, p = 0.005). Conclusions DEs, EEs and DEEs substantially affect both patient and family HRQoL. Patient HRQoL was particularly impaired in cognitive and executive functioning domains, whereas family burden was most evident in terms of worry and daily activities impairment. Drug-resistant epilepsy, daily seizure frequency, gastrointestinal comorbidities, greater functional impairment, and earlier epilepsy onset were associated with poorer patient HRQoL, whereas child sleep/rest and mood/behavior difficulties were independently associated with greater family burden. These findings support the importance of multidisciplinary approaches addressing both seizure-related and non-seizure-related outcomes in affected children and families.