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

Quality of life, caregiver burden, and clinical correlates in Kabuki syndrome: a cross-sectional observational study. Download PDF Abstract 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%).

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