亨廷顿病与健康相关的生活质量、功能和福祉：患者的视角。

IF 3.9 3区医学 Q1 CLINICAL NEUROLOGY

Neurology and Therapy Pub Date : 2024-10-07 DOI:10.1007/s40120-024-00655-0

Jesús Pérez-Pérez, Sofía García-López, Tamara Fernández Valle, Cèlia Painous, Maria Rosa Querol-Pascual, Pedro J García Ruiz, Elena Bellosta Diago, Esther Cubo Delgado, Barbara Vives Pastor, María Carmen Peiró Villaplana, Idaira Martín Santana, Marta Blázquez Estrada, Matilde Calopa Garride, Pablo Mir, Carmen Álvarez, Jorge Maurino, Anna de Prado, José Luis López-Sendón

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Patients aged ≥ 18 years, genetically HD diagnosed [with a diagnostic confidence level score of 4, and an Independence Scale (IS) score ≥ 70] were included. The primary variables were the Huntington's Disease Health-related Quality of Life (HDQLIFE) scores and results of the Satisfaction with Life Scale (SWLS). Secondary outcomes include the Unified HD Rating Scale (UHDRS), Beck Hopelessness Scale (BHS), Stigma Scale for Chronic Illness (SSCI-8), Beck Depression Inventory-Fast Screen (BDI-FS) and Problem Behaviours Assessment for HD short Version (PBA-S).Results: A total of 102 patients were included. The mean age (SD) was 53.1 (12.1) years and 56% were male. Most of the patients (99.0%) showed motor symptoms (87.3%), behavioural and psychiatric disturbances (59.8%), or cognitive impairment (20.6%). HDQLIFE domain score means (SD) includes concern with death and dying 45.97 (9.60) end-of-life planning 37.91 (8.84), and meaning and purpose 44.74 (9.05). 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引用次数: 0

摘要

背景：有关亨廷顿氏病（HD）患者生活经历的信息十分有限。本研究的主要目的是评估亨廷顿病患者与健康相关的生活质量和福祉：在西班牙的 17 家医院运动障碍科开展了一项非干预性横断面研究。研究对象包括年龄≥ 18 岁、基因诊断为 HD（诊断可信度为 4 分，独立性量表（IS）评分≥ 70 分）的患者。主要变量为亨廷顿氏病健康相关生活质量（HDQLIFE）评分和生活满意度量表（SWLS）结果。次要结果包括统一亨廷顿病评分量表（UHDRS）、贝克无望感量表（BHS）、慢性病耻辱感量表（SSCI-8）、贝克抑郁量表-快速筛查（BDI-FS）和亨廷顿病问题行为评估简易版（PBA-S）：共纳入 102 名患者。平均年龄（标清）为 53.1 (12.1)岁，56%为男性。大多数患者（99.0%）表现出运动症状（87.3%）、行为和精神障碍（59.8%）或认知障碍（20.6%）。HDQLIFE 领域得分平均值（标清）包括对死亡和临终的关注 45.97 (9.60)、临终规划 37.91 (8.84)、意义和目的 44.74 (9.05)。SWLS 评分平均值为 24.25（7.33）分。37.4%的患者有抑郁症状，32.9%的患者有中度至严重的绝望感。耻辱感的发生率为 55.9%（n = 57）：HD 影响了患者的生活质量，普遍存在运动、精神症状和认知障碍。患者的观点可为实施特定干预措施提供补充信息。

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Huntington Disease Health Related Quality of Life, Function and Well Being: The Patient's Perspective.

Background: Limited information is available on patients' experience living with Huntington's disease (HD). The primary objective of this study was to assess the health-related quality of life and well being of patients with HD.

Methods: A non-interventional, cross-sectional study was conducted in 17 hospitals-based movement disorders units in Spain. Patients aged ≥ 18 years, genetically HD diagnosed [with a diagnostic confidence level score of 4, and an Independence Scale (IS) score ≥ 70] were included. The primary variables were the Huntington's Disease Health-related Quality of Life (HDQLIFE) scores and results of the Satisfaction with Life Scale (SWLS). Secondary outcomes include the Unified HD Rating Scale (UHDRS), Beck Hopelessness Scale (BHS), Stigma Scale for Chronic Illness (SSCI-8), Beck Depression Inventory-Fast Screen (BDI-FS) and Problem Behaviours Assessment for HD short Version (PBA-S).

Results: A total of 102 patients were included. The mean age (SD) was 53.1 (12.1) years and 56% were male. Most of the patients (99.0%) showed motor symptoms (87.3%), behavioural and psychiatric disturbances (59.8%), or cognitive impairment (20.6%). HDQLIFE domain score means (SD) includes concern with death and dying 45.97 (9.60) end-of-life planning 37.91 (8.84), and meaning and purpose 44.74 (9.05). SWLS score mean was 24.25 (7.33). Depressive symptoms were found in 37.4% of patients and moderate-to-severe feelings of hopelessness in 32.9%. The prevalence of stigma was 55.9% (n = 57).

Conclusion: HD impacted quality of life, with prevalent motor, psychiatric symptoms and cognitive impairment. Patient perspectives may provide complementary information to implement specific interventions.

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来源期刊

Neurology and Therapy CLINICAL NEUROLOGY-

CiteScore

5.40

自引率

8.10%

发文量

103

审稿时长

6 weeks

期刊介绍： Aims and Scope Neurology and Therapy aims to provide reliable and inclusive, rapid publication for all therapy related research for neurological indications, supporting the timely dissemination of research with a global reach, to help advance scientific discovery and support clinical practice. Neurology and Therapy is an international, open access, peer reviewed, rapid publication journal dedicated to the publication of high-quality clinical (all phases), observational, real-world and health outcomes research around the discovery, development, and use of neurological and psychiatric therapies, (also covering surgery and devices). Studies relating to diagnosis, pharmacoeconomics, public health, quality of life, and patient care, management, and education are also welcomed. The journal is of interest to a broad audience of healthcare professionals and publishes original research, reviews, case reports, trial designs, communications and letters. 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