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Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor.author Theodore‐Oklota, Christina
dc.contributor.author Egan, Shayna
dc.contributor.author Paulich, Maggie
dc.contributor.author Evans, Christopher J.
dc.contributor.author Hartman, Deborah S.
dc.contributor.author Hoffman, Deborah L.
dc.contributor.author Bjornsson, Hans
dc.date.accessioned 2020-12-21T10:46:02Z
dc.date.available 2020-12-21T10:46:02Z
dc.date.issued 2020-04-04
dc.identifier.citation Theodore-Oklota, C., Egan, S., Paulich, M., Evans, C.J., Hartman, D.S., Hoffman, D.L., Björnsson, H.T., 2020. Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome. American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.61584
dc.identifier.issn 1552-4825
dc.identifier.issn 1552-4833 (eISSN)
dc.identifier.uri https://hdl.handle.net/20.500.11815/2311
dc.description Publisher's version (útgefin grein)
dc.description.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, anxiety, depression, autism, teeth, joints, seizures, kidneys, and heart. Caregivers also described the challenges of caring for someone with Kabuki syndrome, including an impact on emotional well-being and the ability to work outside the home. This unique research characterizes the caregiver experience of living with and caring for someone with Kabuki syndrome, both through observed manifestations of Kabuki syndrome in their own children and their experience managing their treatment. Additional research is needed to investigate the patient experience of living with Kabuki syndrome.
dc.description.sponsorship Rene King, President & Founder, All Things Kabuki Inc. was essential to participant recruitment and the overall success of this study. Siobhan McDonald from Endpoint Outcomes assisted with recruitment and survey administration. Caitlin Pohl from Endpoint Outcomes contributed to the design of the study, survey administration, and data analysis. Christina Theodore‐Oklota is employed by Ultragenyx Pharmaceutical Inc. who funded this research. Deborah Hartman and Deborah Hoffman were employed by Takeda Pharmaceuticals at the time this research was conducted. Chris Evans, Maggie Paulich, and Shayna Egan are employed by Endpoint Outcomes who was paid to conduct this research. Hans T. Björnsson is a consultant for Millennium Pharmaceuticals.
dc.format.extent 1592-1600
dc.language.iso en
dc.publisher Wiley
dc.relation.ispartofseries American Journal of Medical Genetics Part A;182(7)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Burden
dc.subject Caregiver
dc.subject Kabuki syndrome
dc.subject Survey
dc.subject Erfðasjúkdómar
dc.title Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
dc.type info:eu-repo/semantics/article
dcterms.license This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
dc.description.version Peer Reviewed
dc.identifier.journal American Journal of Medical Genetics Part A
dc.identifier.doi 10.1002/ajmg.a.61584
dc.relation.url https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.61584
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)

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