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Barth Syndrome: Psychosocial Impact and Quality of Life Assessment
Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has focused on the psychosocial impact and quality of l...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784194/ https://www.ncbi.nlm.nih.gov/pubmed/36547445 http://dx.doi.org/10.3390/jcdd9120448 |
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author | Bath, Anandbir Akbilgic, Oguz Wilbanks, David Patel, Jay Wallen, Morgan Haji, Shereen Das, Arnab Alexander, John Pour-Ghaz, Issa Alkhatib, Deya Huang, Yonglin Lontok, Erik Jefferies, John |
author_facet | Bath, Anandbir Akbilgic, Oguz Wilbanks, David Patel, Jay Wallen, Morgan Haji, Shereen Das, Arnab Alexander, John Pour-Ghaz, Issa Alkhatib, Deya Huang, Yonglin Lontok, Erik Jefferies, John |
author_sort | Bath, Anandbir |
collection | PubMed |
description | Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has focused on the psychosocial impact and quality of life (QoL) in BTHS. Methods: The current study investigated caregiver- (n = 10) and self-reported (n = 16) psychological well-being and QoL in a cohort of BTHS-affected patients and families. Participants completed the depression and anxiety components of the Patient-Reported Outcomes Information System (PROMIS) Short Form 8A and Health-related quality of life (HRQoL) surveys at enrollment and again during a follow-up period ranging from 6 to 36 months after baseline. Results: Quality of life changed significantly over time and the various domains with some improvement and some decline. Among the available caregiver-patient dyad data, there was a trend toward discordance between caregiver and self-reported outcomes. Most notably, patients reported improvement in HRQoL, while caregivers reported declines. This suggests that there may be differences in perceived quality of life between the patients and parents, though our study is limited by small sample size. Conclusion: Our study provides valuable insights into the impacts of psychosocial and mental health aspects of BTHS. Implications of these findings include incorporating longitudinal assessment of QoL and screening for psychological symptoms in BTHS care to identify interventions that may drastically impact health status and the course of the disease. |
format | Online Article Text |
id | pubmed-9784194 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-97841942022-12-24 Barth Syndrome: Psychosocial Impact and Quality of Life Assessment Bath, Anandbir Akbilgic, Oguz Wilbanks, David Patel, Jay Wallen, Morgan Haji, Shereen Das, Arnab Alexander, John Pour-Ghaz, Issa Alkhatib, Deya Huang, Yonglin Lontok, Erik Jefferies, John J Cardiovasc Dev Dis Article Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has focused on the psychosocial impact and quality of life (QoL) in BTHS. Methods: The current study investigated caregiver- (n = 10) and self-reported (n = 16) psychological well-being and QoL in a cohort of BTHS-affected patients and families. Participants completed the depression and anxiety components of the Patient-Reported Outcomes Information System (PROMIS) Short Form 8A and Health-related quality of life (HRQoL) surveys at enrollment and again during a follow-up period ranging from 6 to 36 months after baseline. Results: Quality of life changed significantly over time and the various domains with some improvement and some decline. Among the available caregiver-patient dyad data, there was a trend toward discordance between caregiver and self-reported outcomes. Most notably, patients reported improvement in HRQoL, while caregivers reported declines. This suggests that there may be differences in perceived quality of life between the patients and parents, though our study is limited by small sample size. Conclusion: Our study provides valuable insights into the impacts of psychosocial and mental health aspects of BTHS. Implications of these findings include incorporating longitudinal assessment of QoL and screening for psychological symptoms in BTHS care to identify interventions that may drastically impact health status and the course of the disease. MDPI 2022-12-09 /pmc/articles/PMC9784194/ /pubmed/36547445 http://dx.doi.org/10.3390/jcdd9120448 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Bath, Anandbir Akbilgic, Oguz Wilbanks, David Patel, Jay Wallen, Morgan Haji, Shereen Das, Arnab Alexander, John Pour-Ghaz, Issa Alkhatib, Deya Huang, Yonglin Lontok, Erik Jefferies, John Barth Syndrome: Psychosocial Impact and Quality of Life Assessment |
title | Barth Syndrome: Psychosocial Impact and Quality of Life Assessment |
title_full | Barth Syndrome: Psychosocial Impact and Quality of Life Assessment |
title_fullStr | Barth Syndrome: Psychosocial Impact and Quality of Life Assessment |
title_full_unstemmed | Barth Syndrome: Psychosocial Impact and Quality of Life Assessment |
title_short | Barth Syndrome: Psychosocial Impact and Quality of Life Assessment |
title_sort | barth syndrome: psychosocial impact and quality of life assessment |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784194/ https://www.ncbi.nlm.nih.gov/pubmed/36547445 http://dx.doi.org/10.3390/jcdd9120448 |
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