Abstract / Summary
Background/Objectives: Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy characterized by epileptic spasms and epileptiform EEG abnormalities. Classical West syndrome represents a phenotype within the IESS spectrum characterized by epileptic spasms, hypsarrhythmia, and developmental plateau or regression. Beyond seizure control, assessment of health-related quality of life (HRQoL) and family impact may provide important information on the long-term burden of the disease. This study aimed to characterize caregiver-reported HRQoL in young children with IESS and family impact and to explore clinical and perinatal factors associated with these outcomes. Methods: This cross-sectional caregiver-proxy study included 60 parents or primary caregivers of children aged 1 month to 4 years who had previously received a physician-established diagnosis of West syndrome; in the present manuscript, the cohort is described within the broader contemporary IESS framework. Children’s HRQoL was assessed using age-appropriate versions of the Pediatric Quality of Life Inventory (PedsQL), while family impact was assessed using the PedsQL Family Impact Module (FIM). Parametric and non-parametric statistical methods were applied as appropriate. All analyses were exploratory, and no adjustment for multiple comparisons or multivariable adjustment for potential confounders was performed. Results: The mean PedsQL Total Scale Score was 64.53 ± 19.35 among children aged 1–24 months assessed with the PedsQL Infant Scales and 56.34 ± 23.29 among children aged 2–4 years assessed with the PedsQL 4.0 Generic Core Scales. In exploratory pooled analyses, children with additional congenital, genetic, structural, or systemic conditions had lower age-appropriate Total Scale Scores than children without such conditions (52.93 ± 21.55 vs. 64.40 ± 22.08; unadjusted mean difference −11.48 points, 95% CI −22.75 to −0.20; nominal p = 0.046). Physical health scores were also lower in children with additional conditions (53.78 ± 27.62 vs. 69.60 ± 26.71; nominal p = 0.012). In the sensitivity analysis restricted to children aged 2–4 years assessed with a single PedsQL instrument, the Total Scale Score difference was similar in direction but did not reach the nominal significance threshold (48.76 ± 20.86 vs. 62.35 ± 23.76; mean difference −13.59 points, 95% CI −27.57 to 0.38; nominal p = 0.056). Within the FIM, the lowest mean scores were observed for Worry (24.17 ± 21.20) and Daily Activities (35.00 ± 28.57). Conclusions: Caregiver-reported HRQoL and family impact varied substantially among young children with IESS and their families. Additional congenital, genetic, structural, or systemic conditions were associated with lower scores in selected child HRQoL domains, although these exploratory unadjusted findings may be affected by residual confounding. The findings support the inclusion of child HRQoL and family impact measures alongside neurological outcomes in the follow-up of children with IESS.