Opin vísindi

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

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


Title: A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada
Author: Theodore-Oklota, Christina
Hartman, Deborah S.
Hoffman, Deborah L.
Björnsson, Hans Tómas
Date: 2021-11-29
Language: English
Scope: 619-631
University/Institute: Landspitali - The National University Hospital of Iceland
Department: Faculty of Medicine
Clinical Laboratory Services, Diagnostics and Blood Bank
Series: Advances in Therapy; 39(1)
ISSN: 0741-238X
DOI: https://doi.org/10.1007/s12325-021-01953-x
Subject: Umönnun; Kabuki heilkenni; Kabuki heilkenni; Unglingar; Sjúklingar; Rannsóknir; Adolescents; Caregivers; Humanistic burden; Kabuki syndrome; Patient burden; Patient research; Survey; Adolescents; Caregivers; Humanistic burden; Kabuki syndrome; Patient burden; Patient research; Survey; Pharmacology (medical)
URI: https://hdl.handle.net/20.500.11815/2946

Show full item record

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 , vol. 39 , no. 1 , pp. 619-631 . https://doi.org/10.1007/s12325-021-01953-x

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.

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).

Files in this item

This item appears in the following Collection(s)