Santosh Paramala, Lievesley Kate, Fiori Federico, Singh Jatinder
Department of Child and Adolescent Psychiatry, King's College London, London, UK.
HealthTracker Ltd, Gillingham, Kent, UK.
BMJ Open. 2017 Jun 21;7(6):e015342. doi: 10.1136/bmjopen-2016-015342.
Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT- () establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT. As part of the HealthTracker-based Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database, the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire will be able to marry with the physiological aspects of the disease obtained using wearable sensor technology, along with genetic and psychosocial data to stratify patients. Taken together, the web-based TRIAL database will empower clinicians and researchers with the confidence to delineate between different aspects of disorder symptomatology to streamline care pathways for individuals or for those patients entering clinical trials. This protocol describes the anticipated development of the REST questionnaire and the TRIAL database which links with the outcomes of the wearable sensor technology, and will serve as a barometer for longitudinal patient monitoring in patients with RTT.
The US Food and Drug Administration Guidance for Patient-Reported Outcome Measures will be used as a template to inform the methodology of the study. It will follow an iterative framework that will include item/concept identification, item/concept elicitation in parent/carer-mediated focus groups, expert clinician feedback, web-based presentation of questionnaires, initial scale development, instrument refinement and instrument validation.
The study has received favourable opinion from the National Health Service (NHS) Research Ethics Committee (REC): NHS Research Ethics Committee (REC)-London, Bromley Research Ethics Committee (reference: 15/LO/1772).
雷特综合征（RTT）是一种广泛性神经发育障碍，表现为脑功能缺陷，导致语言和学习能力倒退、特征性手部刻板动作以及发育迟缓。与RTT相关的基因发生不同突变，使得RTT成为一种具有不同症状表现的疾病，症状严重程度从个体的严重型到较轻型不等。需要一份可靠的单一多维问卷，能够涵盖所有症状及其之间的关系，并能够将具有临床意义的数据映射到RTT患者一生中的症状表现上。作为基于健康追踪器的定制雷特干预与评估纵向（TRIAL）数据库的一部分，雷特症状与治疗评估（REST）问卷将能够与使用可穿戴传感器技术获得的疾病生理方面的数据相结合，同时结合基因和社会心理数据对患者进行分层。综合来看，基于网络的TRIAL数据库将使临床医生和研究人员有信心区分疾病症状的不同方面，从而为个体患者或进入临床试验的患者简化护理路径。本方案描述了REST问卷和TRIAL数据库的预期开发情况，该数据库与可穿戴传感器技术的结果相关联，并将作为RTT患者纵向监测的晴雨表。
将以美国食品药品监督管理局患者报告结局测量指南为模板指导本研究的方法。它将遵循一个迭代框架，包括项目/概念识别、在家长/照顾者介导的焦点小组中进行项目/概念引出、专家临床医生反馈、问卷的网络展示、初始量表开发、工具完善和工具验证。
该研究已获得英国国家医疗服务体系（NHS）研究伦理委员会（REC）的批准：NHS研究伦理委员会（REC）-伦敦，布罗姆利研究伦理委员会（参考编号：15/LO/1772）。
