AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a childhood-onset neurogenetic disease and mimic of cerebral palsy. Data on health-related quality of life (HRQoL) are lacking. To establish a metric for HRQoL and caregiver priorities, we used the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire to assess HRQoL in correlation with disease severity in 64 patients with AP-4-HSP.

A cross-sectional analysis of caregiver-reported HRQoL was performed using the CPCHILD questionnaire in combination with a detailed clinical characterization.

HRQoL was impaired in all domains in patients with AP-4-HSP (mean score: 59.6 ± 12.6 [SD]), with no significant difference between the 4 subtypes. Age, as a surrogate for disease duration, and Spastic Paraplegia Rating Scale scores, as an indicator for corticospinal tract dysfunction and motor impairment, correlated with lower CPCHILD scores (Pearson r = –0.31, p = 0.01 and r = –0.52, p < 0.0001, respectively). Patients with tetraplegia showed lower CPCHILD scores compared with individuals with diplegia or no spasticity. Wheelchair dependence reduced HRQoL in all domains. The presence of seizures, including medically refractory epilepsy, was not associated with lower CPCHILD scores. Standardized assessment of caregiver priorities identified several areas of high importance to HRQoL.

We show that the CPCHILD questionnaire, developed for use in children with cerebral palsy, can be used to assess HRQoL in patients with childhood-onset complex hereditary spastic paraplegia. HRQoL is reduced in patients with AP-4-HSP and correlates with the degree of motor impairment. These results provide a framework for medical decision making and a baseline for the future development of treatment guidelines and interventional trials.

AP-4 相关遗传性痉挛性截瘫 (AP-4-HSP) 是一种儿童期发病的神经遗传疾病，类似于脑瘫。缺乏与健康相关的生活质量 (HRQoL) 数据。为了建立 HRQoL 和照顾者优先级的指标，我们使用照顾者优先级和残疾儿童健康指数 (CPCHILD) 问卷来评估 64 名 AP-4-HSP 患者的 HRQoL 与疾病严重程度的相关性。

使用 CPCHILD 问卷并结合详细的临床特征对护理人员报告的 HRQoL 进行横断面分析。

AP-4-HSP 患者的 HRQoL 在所有领域均受损（平均得分：59.6 ± 12.6 [SD]），4 种亚型之间无显着差异。年龄（作为疾病持续时间的替代指标）和痉挛性截瘫评定量表评分（作为皮质脊髓束功能障碍和运动障碍的指标）与较低的 CPCHILD 评分相关（Pearson r = –0.31，p = 0.01 和r = –0.52，p< 0.0001，分别）。与双瘫或无痉挛的个体相比，四肢瘫痪患者的 CPCHILD 评分较低。轮椅依赖降低了所有领域的 HRQoL。癫痫发作，包括药物难治性癫痫，与较低的 CPCHILD 评分无关。对照顾者优先事项的标准化评估确定了几个对 HRQoL 非常重要的领域。

我们表明，为脑瘫儿童开发的 CPCHILD 问卷可用于评估儿童期发病的复杂遗传性痉挛性截瘫患者的 HRQoL。AP-4-HSP 患者的 HRQoL 降低，并与运动障碍程度相关。这些结果为医疗决策制定提供了框架，并为未来制定治疗指南和介入试验提供了基准。