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

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 liv...

Full description

Saved in:
Bibliographic Details
Published in:Advances in therapy 2022-01, Vol.39 (1), p.619-631
Main Authors: Theodore-Oklota, Christina, Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Adolescent
Cardiology
Caregivers - psychology
Endocrinology
Face - abnormalities
Hematologic Diseases
Humans
Internal Medicine
Medicine
Medicine & Public Health
Oncology
Original Research
Pharmacology/Toxicology
Quality of Life
Rheumatology
United States
Vestibular Diseases
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0741-238X
1865-8652
DOI:10.1007/s12325-021-01953-x