A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada
| Autor: | Deborah Hoffman, Christina Theodore-Oklota, Deborah S. Hartman, Hans T. Bjornsson |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adolescent
media_common.quotation_subject Population Disease Adolescents Quality of life (healthcare) Perception medicine Humans Pharmacology (medical) Abnormalities Multiple education Survey media_common Original Research Humanistic burden education.field_of_study Kabuki syndrome business.industry Perspective (graphical) General Medicine medicine.disease Hematologic Diseases Patient research United States Caregivers Vestibular Diseases Face Patient burden Quality of Life business Psychosocial Qualitative research Clinical psychology |
| Zdroj: | Advances in Therapy |
| ISSN: | 1865-8652 0741-238X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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