Singh Jatinder, Fiori Federico, Law Mei Lin, Ahmed Ruksana, Ameenpur Shashidhar, Basheer Salah, Chishti Samiya, Lawrence Rosie, Mastroianni Mathilde, Mosaddegh Abdolreza, Santosh Paramala
Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust, London SE5 8AZ, UK.
J Clin Med. 2022 Aug 30;11(17):5094. doi: 10.3390/jcm11175094.
: Rett Syndrome (RTT) is a rare, neurodevelopmental disorder characterised by a range of problematic symptoms. There is yet to be a robust instrument to adequately capture the range of disease severity across the lifespan. In this study, we aimed to develop and assess the validity of an RTT-specific electronic Observer Reported Outcome (eObsRO), the Multi-System Profile of Symptoms Scale (MPSS). : The study was conducted in two phases. Phase 1 consisted of a systematic literature review, focus groups, expert feedback, and a pilot test of the new scale. Modifications were made based on preliminary analysis and feedback collected in the pilot phase. Phase 2 consisted of the validation of the questionnaire based on two samples (Sample 1, = 18; Sample 2, = 106). Participants were all parents or caregivers of individuals with RTT. : The MPSS consists of 12 validated sub-scales (mental health problems, autonomic problems, cardiac problems, communication problems, problems in social behaviour, problems in engagement, gastrointestinal problems, problems in motor skills, neurological problems, orofacial problems, respiratory problems, and sleep problems), which explore symptom frequency in the past month and a supplement to the scale consisting of five sub-scales (sensory problems, immune dysfunction and infection, endocrine problems, skeletal problems, and dermatological problems), which is designed to capture symptom changes over a longer time period. The frequency of symptoms was rated on a 10-point slider scale, which then was automatically transformed into a 0 to 5 Likert score. All 12 sub-scales showed strong internal consistency (α ≥ 0.700) and good stability, ranging from 0.707 to 0.913. Pearson's correlation showed a statistically significant (r = 0.649) correlation between the MPSS and the Rett Syndrome Behaviour Questionnaire (RSBQ) total score and significant correlations between sub-scales with items that were presented in both the MPSS and RSBQ. : The MPSS is a psychometrically validated eObsRO using the HealthTracker platform and has the potential to be used in clinical trials.
雷特综合征（RTT）是一种罕见的神经发育障碍，其特征是一系列问题症状。目前尚未有一个强大的工具能够充分涵盖患者一生中疾病严重程度的范围。在本研究中，我们旨在开发并评估一种针对雷特综合征的电子观察者报告结局（eObsRO）——多系统症状量表（MPSS）的有效性。
本研究分两个阶段进行。第一阶段包括系统的文献综述、焦点小组讨论、专家反馈以及新量表的预测试。根据预测试阶段的初步分析和收集到的反馈进行了修改。第二阶段包括基于两个样本（样本1，n = 18；样本2，n = 106）对问卷进行验证。参与者均为雷特综合征患者的父母或照料者。
MPSS由12个经过验证的子量表（心理健康问题、自主神经问题、心脏问题、沟通问题、社会行为问题、参与问题、胃肠道问题、运动技能问题、神经问题、口面部问题、呼吸问题和睡眠问题）组成，这些子量表用于探究过去一个月内症状的频率，还有一个由五个子量表（感觉问题、免疫功能障碍和感染、内分泌问题、骨骼问题和皮肤问题）组成的量表补充，旨在捕捉较长时间段内症状的变化。症状频率通过10分滑动量表进行评分，然后自动转换为0至5的李克特评分。所有12个子量表均显示出很强的内部一致性（α≥0.700）和良好的稳定性，范围从0.707至0.913。皮尔逊相关性分析表明，MPSS与雷特综合征行为问卷（RSBQ）总分之间存在统计学显著相关性（r = 0.649），并且MPSS和RSBQ中都出现的子量表与项目之间也存在显著相关性。
MPSS是一种使用HealthTracker平台进行了心理测量学验证的eObsRO，有潜力用于临床试验。
