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. The authors declare that no funds, grants, or other support were received during the preparation of this manuscript. Department of Medical Genetics, Centre of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw, Warsaw, Poland Snir Boniel, Rafał Płoski & Krzysztof Szczaluba Department of Environmental Hazard Prevention and Allergology, Medical University of Warsaw, Warsaw, Poland Department of Family and Pediatric Nursing, Wroclaw Medical University, Wroclaw, Poland Department of Pediatrics and Endocrinology, Medical University of Warsaw, Warsaw, Poland Department of Pediatric Neurology, Medical University of Warsaw, Warsaw, Poland The authors declare no competing interests.

The study was approved by the Bioethics Committee of the Medical University of Warsaw (KB/144/2021). All methods were performed in accordance with the relevant guidelines and regulations, including the Declaration of Helsinki and national ethical standards for biomedical research involving human participants. Written informed consent was obtained from all participating caregivers and/or legal guardians prior to enrollment.