Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome.

ABSTRACT: Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio-emotional delays. The condition is largely unknown by most primary care physicians and has no available treatment other than symptomatic management. This research sought to obtain caregiver-reported data about the experience of living with and caring for someone with Kabuki syndrome to fill a gap in the available literature. Fifty-seven caregivers participated in an online survey and reported that Kabuki syndrome affected their children in a wide variety of ways, including a high frequency of visits to various healthcare professionals. Caregivers reported their child experienced problems with hearing, eating, eyes, mouth, immune system, anxie

SUBMITTER: Theodore-Oklota C 

PROVIDER: S-EPMC7383624 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature