Quality of life, caregiver burden, and clinical correlates in Kabuki syndrome: a cross-sectional observational study

Kabuki syndrome (KS) is a rare multisystem neurodevelopmental disorder caused by pathogenic variants in KMT2D or KDM6A . We examine quality of life (QoL), its correlates, patterns of rehabilitation utilization, patient functioning, and caregiver burden in a Polish patient group. We recruited 45 individuals with KS between 2020 and 2023. Caregivers completed a 100-item QoL questionnaire. Participants underwent multidisciplinary clinical evaluations and a 2-year follow-up. Therapies, nutritional care, and recombinant growth hormone treatment were analyzed. Data were evaluated using descriptive statistics, non-parametric correlation analyses, and subgroup comparisons. Neurodevelopmental manifestations were prevalent (cognitive impairment: 91%; persistent global hypotonia: 84%). Cognitive fatigue was the primary fatigue domain and did not correlate with physical comorbidity severity (e.g., congenital heart defects, endocrine dysfunction). Caregiver burden peaked in early childhood but correlated inversely with patient age, suggesting longitudinal family adaptation. Pairwise therapy correlations reflected care-seeking behaviors rather than biological phenotypes. Quality of life and family burden in Kabuki syndrome are primarily driven by neurodevelopmental and cognitive fatigue factors rather than isolated organic comorbidities. Interventions should prioritize early psychological and educational management for patients accompanied by front-loaded family respite care.