Chakraborty Arka P, Mukherjee Adreesh, Sarkar Sumanta, Sinharoy Uma, Biswas Atanu
Department of Neurology, Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research (IPGME&R), Kolkata, West Bengal, India.
Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1062-1066. doi: 10.4103/aian.aian_1040_21. Epub 2022 Jul 26.
There is a dearth of studies on non-motor symptoms of Wilson's disease (WD) which is primarily because of the non-availability of a suitable scale.
To assess the suitability of the Parkinson's Disease non motor symptoms questionnaire (PD-NMS Quest) in the assessment of non-motor symptoms of WD patients.
In this case-control study, patients of WD above ≥12 years of age diagnosed by Leipzig's criteria and age and gender-matched control subjects were recruited. Critically ill patients, patients with severe hepatic impairment, or with pure hepatic WD were excluded. PD-NMS Quest was applied and relevant statistical analyses were performed.
A total of 18 cases and 25 controls were studied. Patients had a mean age of 22.6 years and a median disease duration of 8 years. WD patients had higher frequencies of all NMS than controls. Drooling ( = 0.0037), dysphagia or choking ( = 0.0088), nocturia ( = 0.0471), anxiety/fear ( = 0.0337), feeling sad or blue ( = 0.0020) and falling ( = 0.0197) were significantly higher in WD patients than controls.
Although many NMS of WD patients are picked up effectively with PD-NMS Quest, some of them need detail assessment including cognitive, behavioral, and psychiatric symptoms, drooling and dysphagia, sleep as well as autonomic disturbances. Questions pertaining to sexual activity may be omitted from the questionnaire.
关于肝豆状核变性（WD）非运动症状的研究匮乏，这主要是因为缺乏合适的量表。
评估帕金森病非运动症状问卷（PD-NMS Quest）在评估WD患者非运动症状方面的适用性。
在这项病例对照研究中，招募了根据莱比锡标准诊断的年龄≥12岁的WD患者以及年龄和性别匹配的对照受试者。排除重症患者、严重肝功能损害患者或纯肝型WD患者。应用PD-NMS Quest并进行相关统计分析。
共研究了18例患者和25名对照。患者的平均年龄为22.6岁，疾病中位持续时间为8年。WD患者所有非运动症状的发生率均高于对照。WD患者流涎（P = 0.0037）、吞咽困难或呛咳（P = 0.0088）、夜尿症（P = 0.0471）、焦虑/恐惧（P = 0.0337）、悲伤或情绪低落（P = 0.0020）以及跌倒（P = 0.0197）的发生率显著高于对照。
尽管PD-NMS Quest能有效识别WD患者的许多非运动症状，但其中一些症状需要详细评估，包括认知、行为和精神症状、流涎和吞咽困难、睡眠以及自主神经功能障碍。问卷中可省略与性活动相关的问题。
