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
Department of Cardiovascular Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Section of Cardiovascular Medicine, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
J Cardiovasc Dev Dis. 2022 Dec 9;9(12):448. doi: 10.3390/jcdd9120448.
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.
The current study investigated caregiver- ( = 10) and self-reported ( = 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.
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.
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.
巴特综合征（BTHS）是一种罕见的X连锁遗传病，会影响多个系统并导致复杂的临床表现。尽管大量研究聚焦于该疾病的身体方面，但较少关注巴特综合征的心理社会影响和生活质量（QoL）。
本研究调查了一组受巴特综合征影响的患者及其家庭中照顾者（n = 10）和自我报告（n = 16）的心理健康状况和生活质量。参与者在入组时以及基线后6至36个月的随访期间，完成了患者报告结局信息系统（PROMIS）简表8A的抑郁和焦虑部分以及健康相关生活质量（HRQoL）调查。
生活质量随时间显著变化，各个领域有升有降。在现有的照顾者 - 患者二元组数据中，照顾者报告的结果与自我报告的结果之间存在不一致的趋势。最显著的是，患者报告健康相关生活质量有所改善，而照顾者报告有所下降。这表明患者和父母对生活质量的认知可能存在差异，尽管我们的研究受样本量小的限制。
我们的研究为巴特综合征的心理社会和心理健康方面的影响提供了有价值的见解。这些发现的意义包括在巴特综合征护理中纳入生活质量的纵向评估和心理症状筛查，以确定可能对健康状况和疾病进程产生重大影响的干预措施。
