Pérez-Pérez Jesús, García-López Sofía, Valle Tamara Fernández, Painous Cèlia, Querol-Pascual Maria Rosa, Ruiz Pedro J García, Diago Elena Bellosta, Cubo Delgado Esther, Pastor Barbara Vives, Villaplana María Carmen Peiró, Santana Idaira Martín, Blázquez Estrada Marta, Garride Matilde Calopa, Mir Pablo, Álvarez Carmen, Maurino Jorge, de Prado Anna, López-Sendón José Luis
Department of Neurology, Movement Disorders Unit, Hospital de la Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Sant Pau Institute of Biomedical Research (IIB-Sant Pau), Barcelona, Spain.
Neurol Ther. 2025 Feb;14(1):99-115. doi: 10.1007/s40120-024-00655-0. Epub 2024 Oct 7.
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.
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).
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).
HD impacted quality of life, with prevalent motor, psychiatric symptoms and cognitive impairment. Patient perspectives may provide complementary information to implement specific interventions.
关于亨廷顿舞蹈症（HD）患者的生活体验，现有信息有限。本研究的主要目的是评估HD患者与健康相关的生活质量和幸福感。
在西班牙17家基于医院的运动障碍科室开展了一项非干预性横断面研究。纳入年龄≥18岁、经基因诊断为HD（诊断置信度评分为4，独立量表（IS）评分≥70）的患者。主要变量为亨廷顿舞蹈症健康相关生活质量（HDQLIFE）评分和生活满意度量表（SWLS）结果。次要结局包括统一HD评定量表（UHDRS）、贝克绝望量表（BHS）、慢性病耻辱感量表（SSCI - 8）、贝克抑郁量表快速筛查版（BDI - FS）以及HD问题行为评估简版（PBA - S）。
共纳入102例患者。平均年龄（标准差）为53.1（12.1）岁，56%为男性。大多数患者（99.0%）出现运动症状（87.3%）、行为和精神障碍（59.8%）或认知障碍（20.6%）。HDQLIFE领域评分均值（标准差）包括对死亡和临终的担忧45.97（9.60）、临终规划37.91（8.84）以及意义和目的44.74（9.05）。SWLS评分均值为24.25（7.33）。37.4%的患者存在抑郁症状，32.9%有中度至重度绝望感。耻辱感患病率为55.9%（n = 57）。
HD影响生活质量，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。
