Robert Śmigiel

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....