Siow Sue Faye, Fleming Jane, Barlow-Stewart Kristine, Wali Gautam, Kumar Kishore R, Sue Carolyn M
Sydney Medical School, University of Sydney, Camperdown, NSW, Australia.
Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW, Australia.
Cerebellum. 2024 Dec 17;24(1):14. doi: 10.1007/s12311-024-01771-1.
Patients with Hereditary Spastic Paraplegia (HSP) report reduced quality of life (QoL) compared to the general population. Generic QoL measures do not address disease-specific aspects such as spasticity, access to specialty HSP clinics, and bladder symptoms. We designed and validated a HSP-specific QoL scale (HSPQoL), intended for use in standard clinical settings and clinical trials. HSP-specific items were added to the RAND 36-Item Short Form Health Survey (SF-36) to form HSPQoL. Following literature review/expert input, 23 items were presented to a panel of HSP clinicians, patients, and patient representatives (n = 12) using a modified Delphi process. Items were ranked for clarity and relevance (inclusion criteria: 80% consensus). 21/23 items met the inclusion criteria. Interviews with patients (n = 5) assessed suitability, comprehension, clarity, and response options to additional items. Based on cognitive interview results, items were modified (n=4), removed (n=7), or added (n=3). Sixty-one patients completed the HSPQoL and EQ5D-5L for evaluation of construct validity and 19 patients repeated the HSPQoL for evaluation of test-retest reliability. 15/17 additional items moderately to strongly correlated with pre-existing SF-36 subscores (Spearman correlation 0.319-0.771, p < 0.05). Exploratory factor analyses showed high percentage of variance in the first component (> 45%). HSPQoL demonstrated good internal consistency (Cronbach alpha 0.94), test-retest reliability (ICC 0.957), and convergent validity with EQ5D-5L (r = 0.725). In conclusion, demonstrated validity and reliability of the HSPQoL confirms consideration of its use for assessing specific QoL in individuals with HSP.
与普通人群相比，遗传性痉挛性截瘫（HSP）患者报告的生活质量（QoL）较低。通用的生活质量测量方法未涉及疾病特异性方面，如痉挛、进入专科HSP诊所的机会以及膀胱症状。我们设计并验证了一种针对HSP的生活质量量表（HSPQoL），旨在用于标准临床环境和临床试验。将HSP特异性项目添加到兰德36项简式健康调查（SF-36）中，以形成HSPQoL。在文献综述/专家意见之后，使用改良的德尔菲法向一组HSP临床医生、患者和患者代表（n = 12）展示了23个项目。对项目的清晰度和相关性进行排序（纳入标准：80%的共识）。23个项目中有21个符合纳入标准。对5名患者进行访谈，评估额外项目的适用性、理解性、清晰度和回答选项。根据认知访谈结果，对项目进行了修改（n = 4）、删除（n = 7）或添加（n = 3）。61名患者完成了HSPQoL和EQ5D-5L以评估结构效度，19名患者重复完成HSPQoL以评估重测信度。17个额外项目中的15个与原有的SF-36子评分呈中度至高度相关（斯皮尔曼相关性为0.319 - 0.771，p < 0.05）。探索性因素分析显示第一个成分的方差百分比很高（> 45%）。HSPQoL表现出良好的内部一致性（克朗巴赫α系数为0.94）、重测信度（组内相关系数为0.957）以及与EQ5D-5L的收敛效度（r = 0.725）。总之，HSPQoL已证明的有效性和可靠性证实了考虑将其用于评估HSP患者的特定生活质量。
