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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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