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本文引用的文献

1
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).量化青少年神经元蜡样脂褐质沉积症(Batten 病)的身体衰退。
Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.
2
Increasing access to specialty care: a pilot, randomized controlled trial of telemedicine for Parkinson's disease.增加专科医疗服务可及性:帕金森病远程医疗的一项试点、随机对照试验。
Mov Disord. 2010 Aug 15;25(11):1652-9. doi: 10.1002/mds.23145.
3
Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies.青少年型贝敦氏病的神经心理学症状:两项研究的经验
J Child Neurol. 2007 May;22(5):621-7. doi: 10.1177/0883073807302603.
4
A clinical rating scale for Batten disease: reliable and relevant for clinical trials.一种用于巴顿病的临床评分量表:对临床试验可靠且相关。
Neurology. 2005 Jul 26;65(2):275-9. doi: 10.1212/01.wnl.0000169019.41332.8a.
5
Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.用于检测导致巴滕病的CLN3基因中1千碱基对缺失的均相聚合酶链反应核碱基淬灭分析。
J Mol Diagn. 2004 Aug;6(3):260-3. doi: 10.1016/S1525-1578(10)60519-3.
6
Dementia in the neuronal ceroid-lipofuscinoses.神经元蜡样脂褐质沉积症中的痴呆
Adv Exp Med Biol. 2001;487:211-7.
7
Neuronal ceroid lipofuscinoses in childhood.儿童期神经元蜡样脂褐质沉积症
Neurol Sci. 2000;21(3 Suppl):S35-41. doi: 10.1007/s100720070038.

定量远程医疗评分在神经鞘脂沉积症中的应用:对罕见病研究的启示。

Quantitative telemedicine ratings in Batten disease: implications for rare disease research.

机构信息

University of Rochester, Rochester, NY, USA.

出版信息

Neurology. 2011 Nov 15;77(20):1808-11. doi: 10.1212/WNL.0b013e3182377e29. Epub 2011 Oct 19.

DOI:10.1212/WNL.0b013e3182377e29
PMID:22013181
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3233206/
Abstract

OBJECTIVE

To determine if remote administration of the Unified Batten Disease Rating Scale (UBDRS) Physical Impairment subscale by telemedicine is reliable and feasible across a broad range of disease severity.

METHODS

For the majority (n = 10) of subjects, the examination was performed by a nonphysician who had been trained to perform the examination but not to score the subjects. A trained rater scored the subjects via live video; a second trained rater performed a separate examination in person and scored that examination. For 3 telemedicine evaluations, examinations were performed and scored by a trained rater while a second trained rater simultaneously scored the subjects via live video. Reliability was determined by intraclass correlation coefficient (ICC).

RESULTS

Subjects (n = 13) represented a wide range of disease severity. Remote administration of the UBDRS Physical Impairment subscale had high interrater reliability across all subjects (ICC = 0.94). When only the subjects (n = 10) who had been examined by the nonphysician and scored remotely were included in the analysis, the reliability was unchanged (ICC = 0.95).

CONCLUSIONS

The UBDRS Physical Impairment subscale is reliable and feasible for remote administration. Telemedicine has the potential to be a useful tool in rare neurologic disease research and clinical assessment.

摘要

目的

通过远程医疗确定广泛疾病严重程度范围内远程管理统一脑腱黄瘤病评定量表(UBDRS)身体损伤分量表是否可靠且可行。

方法

对于大多数(n=10)受试者,由经过培训但不评分的非医师进行检查。经过培训的评分员通过实时视频对受试者进行评分;另一位经过培训的评分员亲自进行单独检查并对该检查进行评分。对于 3 次远程医疗评估,由经过培训的评分员进行检查和评分,同时第二位经过培训的评分员通过实时视频同时对受试者进行评分。可靠性通过组内相关系数(ICC)确定。

结果

受试者(n=13)代表了广泛的疾病严重程度。UBDRS 身体损伤分量表的远程管理在所有受试者中均具有很高的评分者间可靠性(ICC=0.94)。当仅包括由非医师检查和远程评分的受试者(n=10)进行分析时,可靠性保持不变(ICC=0.95)。

结论

UBDRS 身体损伤分量表可靠且适用于远程管理。远程医疗有可能成为罕见神经疾病研究和临床评估的有用工具。