Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China.
Orphanet J Rare Dis. 2022 Sep 2;17(1):334. doi: 10.1186/s13023-022-02485-5.
Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of life (HRQOL) is not systematically documented in the literature, and there is no existing tool for such purposes. We designed our own tool for scoring of symptom burden amongst CNDCs and adopted the PedsQL generic score 4.0 to quantify the impact of overall symptom burden on children's overall HRQOL.
The Symptom Profile for children with neurodegnerative condition (SProND) questionnaire was developed, which consisted of 14 questions grouped according to 5 categories, namely epilepsy, neurobehavioural, movement and mobility related, breathing and swallowing, and other daily activities. CNDCs were recruited during visits to the Comprehensive Neurometabolic / Neurodegenerative Program of the Duchess of Kent Children's Hospital and Hong Kong Children's Hospital between November 2019 and March 2020. The SProND and PedsQL 4.0 Generic Core Scales were distributed to consenting parents of CNDCs.
36 CNDCs were recruited and matched with community controls. The response rate of subject and control were 99.5% and 98.7% respectively. The Cronbach alpha was 0.61 for the neurobehavioural domain and > = 0.7 for other domains. The greater number of symptoms each subject experiences, the worse his/ her PedsQL scores. Subjects displaying hypersalivation and swallowing difficulties had average physical health summary scores of less than 30% compared with subjects without these symptoms. On the other hand, average psychosocial health summary scores of subjects with involuntary movements, joint stiffness, hypersalivation, sleep problem and anorexia were approximately 70% compared to subjects without these symptoms.
This is one of the first studies to look at CNDCs as a group. We propose the SProND questionnaire for evaluation of symptom profile amongst CNDCs with satisfactory internal and external validity. It demonstrates how physical symptoms impact both physical and psychosocial HRQOL, and the cumulative effect of individual symptoms on the overall HRQOL. As such, CNDCs should be systematically screened for multi-systemic symptoms as a routine part of their clinical care, and care plans should be individually catered to individual patients' symptom burden and specific needs.
患有神经退行性疾病的儿童（CNDC）通常患有严重的神经残疾和高症状负担，涉及多系统。然而，他们的症状负担和健康相关生活质量（HRQOL）在文献中没有系统记录，也没有用于此目的的现有工具。我们为 CNDC 设计了自己的症状负担评分工具，并采用 PedsQL 通用评分 4.0 来量化整体症状负担对儿童整体 HRQOL 的影响。
开发了儿童神经退行性疾病症状谱（SProND）问卷，该问卷由根据 5 个类别分组的 14 个问题组成，即癫痫、神经行为、运动和移动相关、呼吸和吞咽以及其他日常活动。CNDC 是在 2019 年 11 月至 2020 年 3 月期间在肯特公爵儿童医院和香港儿童医院的综合神经代谢/神经退行性计划就诊时招募的。SProND 和 PedsQL 4.0 通用核心量表分发给 CNDC 的同意父母。
共招募了 36 名 CNDC 并与社区对照进行了匹配。受试者和对照的应答率分别为 99.5%和 98.7%。神经行为领域的 Cronbach alpha 为 0.61，其他领域均大于等于 0.7。每个患者经历的症状越多，他/她的 PedsQL 评分就越差。出现流涎和吞咽困难的患者的身体健康总评分均低于 30%，而无这些症状的患者则高于 30%。另一方面，患有不自主运动、关节僵硬、流涎、睡眠问题和厌食症的患者的心理社会健康总评分约为 70%，而无这些症状的患者则低于 70%。
这是首次对 CNDC 进行的研究之一。我们提出了 SProND 问卷，用于评估 CNDC 的症状谱，具有令人满意的内部和外部有效性。它展示了身体症状如何影响身体和心理社会 HRQOL，以及个体症状对整体 HRQOL 的累积影响。因此，应系统地对 CNDC 进行多系统症状筛查，作为其临床护理的常规部分，并且护理计划应根据个体患者的症状负担和特定需求进行个性化定制。
