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A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada

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dc.contributor Landspitali - The National University Hospital of Iceland
dc.contributor.author Theodore-Oklota, Christina
dc.contributor.author Hartman, Deborah S.
dc.contributor.author Hoffman, Deborah L.
dc.contributor.author Björnsson, Hans Tómas
dc.date.accessioned 2022-03-15T01:02:31Z
dc.date.available 2022-03-15T01:02:31Z
dc.date.issued 2021-11-29
dc.identifier.citation Theodore-Oklota , C , Hartman , D S , Hoffman , D L & Björnsson , H T 2021 , ' A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada ' , Advances in Therapy . https://doi.org/10.1007/s12325-021-01953-x
dc.identifier.issn 0741-238X
dc.identifier.other PURE: 43427873
dc.identifier.other PURE UUID: d264978f-4a32-4d6f-8648-d6e08f757b72
dc.identifier.other Scopus: 85120163676
dc.identifier.other unpaywall: 10.1007/s12325-021-01953-x
dc.identifier.uri https://hdl.handle.net/20.500.11815/2946
dc.description No funding was received for this manuscript but Hans T. Björnsson is supported by a grant from the Louma G. Foundation. Hans T. Björnsson is also supported by grants from the Icelandic Research Fund (#195835-051, #206806-051) and the Icelandic Technology Development Fund (#2010588-0611). Takeda Pharmaceutical Company funded the journal’s Rapid Service and Open Access Fees. Publisher Copyright: © 2021, The Author(s).
dc.description.abstract Introduction: Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad abnormalities, and developmental delays, as well as a range of other health issues. Existing research lacks information on the daily burden of living with Kabuki syndrome. Methods: A survey collected caregiver- and patient-reported data about the experience of living with Kabuki syndrome in order to better understand its presentation and effect on patients and their psychosocial well-being. Results: A total of 68 participants (n = 57 caregivers and n = 11 adolescents) were recruited from the USA and Canada. Caregiver survey participants reported developmental delays and lower IQ in individuals with Kabuki syndrome compared to the general population, as well as difficulty with cognitive-related tasks, need for educational accommodations, and difficulty with particular school subjects and with daily tasks. Additionally, participants reported significant emotional, social, and communication-related impacts of Kabuki syndrome. Adolescent data largely corroborated the information collected from caregivers, with the exception of adolescents reporting the emotional and social impacts as occurring less frequently. Conclusions: Kabuki syndrome is a multidimensional disease which has substantial negative effects on physical, mental, emotional, and social aspects of health-related quality of life. This research adds to the limited existing body of literature on the clinical presentation of Kabuki syndrome and provides a novel perspective into the caregiver and adolescent perception of the burden of Kabuki syndrome.
dc.language.iso en
dc.relation.ispartofseries Advances in Therapy; ()
dc.rights info:eu-repo/semantics/openAccess
dc.subject Umönnun
dc.subject Kabuki heilkenni
dc.subject Kabuki heilkenni
dc.subject Unglingar
dc.subject Sjúklingar
dc.subject Rannsóknir
dc.subject Adolescents
dc.subject Caregivers
dc.subject Humanistic burden
dc.subject Kabuki syndrome
dc.subject Patient burden
dc.subject Patient research
dc.subject Survey
dc.subject Pharmacology (medical)
dc.title A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.1007/s12325-021-01953-x
dc.relation.url http://www.scopus.com/inward/record.url?scp=85120163676&partnerID=8YFLogxK
dc.contributor.department Faculty of Medicine
dc.contributor.department Clinical Laboratory Services, Diagnostics and Blood Bank

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