Psychological and health-related quality of life outcomes in children with developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): A single-center prospective study.

OBJECTIVE

Developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS) is associated with persistent cognitive, behavioral, and functional impairment. Data on health-related quality of life (HRQoL) and its determinants in this population remain limited. We evaluated psychological outcomes, HRQoL, and its predictors in children with D/EE-SWAS.

METHODS

In this cross-sectional study, consecutive children aged 4-18 years with D/EE-SWAS were assessed between January 2024 and June 2025. HRQoL was measured using the Quality of Life in Childhood Epilepsy questionnaire (QOLCE-55). Behavioral difficulties were assessed using the Strengths and Difficulties Questionnaire (SDQ). Clinical, developmental, and epilepsy-related variables were analysed for associations with HRQoL. Multivariable regression was performed to identify independent predictors.

RESULTS

Forty-six children were included (29 males, 63%). The mean age at assessment was 11 years (range 5-17 years); 17 children (37%) were classified as DEE-SWAS, while 29 children (63%) were classified as EE-SWAS. The mean overall QOLCE-55 score was 60.7 ± 22.3 (range 12-94). Domain-wise scores were highest for emotional functioning (70.9 ± 17.3) and lowest for physical functioning (40.4 ± 24.4). Children with structural etiology had significantly lower HRQoL than those with idiopathic etiology (49.4 ± 18.6 vs 74.1 ± 18.8; p < 0.001). Lower HRQoL was associated with earlier seizure onset (ρ = 0.53, p < 0.001), pre-existing developmental delay (46.2 ± 20.3 vs 69.2 ± 19.0; p < 0.001), microcephaly (p = 0.001), abnormal speech (p = 0.001), and higher epilepsy severity (E-CHESS score; ρ = -0.37, p = 0.01). Children attending regular school had significantly higher HRQoL than those with delayed schooling or school dropout (79.6 ± 15.0 vs 56.4 ± 16.9 vs 40.7 ± 18.2; p < 0.001). Behavioral difficulties were common (mean SDQ total difficulties score 13.3 ± 7.4), and higher SDQ total, internalizing, externalizing, and impact scores were strongly associated with poorer HRQoL (all p < 0.001). In multivariable analysis, schooling status, baseline developmental delay, and epilepsy severity independently predicted HRQoL, accounting for 60% of the variance.

CONCLUSION

Children with D/EE-SWAS experience substantial impairment in health-related quality of life, particularly in physical and social domains. Neurodevelopmental status, functional participation, epilepsy severity, and behavioral difficulties are key determinants of HRQoL, underscoring the need for multidisciplinary management beyond seizure control.