开发核黄素转运体缺乏症的功能结果测量方法。

IF 3.9 3区 医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2024-03-06 DOI:10.1111/jns.12619
Jack R. Fennessy, Gabrielle A. Donlevy, Marnee J. McKay, Joshua Burns, Kayla M. D. Cornett, Manoj P. Menezes
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引用次数: 0

摘要

背景和目的:核黄素转运体缺乏症(RTD)是一种儿童期发病的进行性遗传神经病,临床表现为桥脑麻痹、感觉性共济失调、感音神经性耳聋、肌无力、视神经萎缩和呼吸衰竭。对于未来包括基因疗法在内的疾病改变疗法的临床试验而言,一个可靠且反应灵敏的功能结果测量指标至关重要。Charcot-Marie-Tooth病儿科量表(CMTPedS)是针对CMT和相关神经病的一种经过充分验证的结果测量方法,可能对测量RTD患者的疾病进展有用。然而,CMTPedS 需要根据 CMT 和 RTD 儿童的表型差异进行修改。本研究的目的是在 CMTPedS 的基础上开发一种功能结果测量方法,专门用于 RTD 患者:方法:对过去 10 年中收集的在韦斯特米德儿童医院(澳大利亚悉尼)周围神经病变管理诊所就诊的 RTD 患者的 CMTPedS 数据进行回顾,以评估 CMTPedS 中的每个项目。通过对 2021 年 9 月之前发表的有关功能结果测量的文章进行文献回顾,建立了一个用于试点测试的项目库。试点测试的结果以及对 RTD 队列中现有 CMTPedS 项目得分的分析为 CMTPedS 的修改提供了依据:对过去 10 年中 8 人的 CMTPedS 数据进行了审查。发现有两个项目需要修改或删除,另外还需要考虑近端力量和功能项目。在文献回顾中确定了六项研究,并选择了五个项目进行试点测试。增加了 "肩内旋 "和 "30 秒坐立测试 "作为近端力量和功能测量项目。在 CMTPedS 中,由九项任务组成的综合平衡项目出现了天花板效应,因此被 "双脚分开站在一条线上,眼睛睁开 "的单一平衡项目所取代。而 "针刺感 "则因出现地板效应而被删除:本研究提供了初步证据,证明核黄素转运体缺乏症儿科量表(RTDPedS)是一种功能性结果测量方法,适用于核黄素转运体缺乏症患者的力量、上下肢功能、平衡和活动能力,可用于评估临床试验和队列研究中疾病的严重程度和进展情况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Development of a functional outcome measure for riboflavin transporter deficiency

Background and Aims

Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot–Marie–Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD. However, the CMTPedS requires modifications to account for phenotypic differences between children with CMT and RTD. The aim of this study was to develop a functional outcome measure based on the CMTPedS for specific use in individuals with RTD.

Methods

The CMTPedS data collected over the last 10 years in individuals with RTD attending the Peripheral Neuropathy Management Clinic at the Children's Hospital at Westmead (Sydney, Australia) were reviewed to evaluate each item within the CMTPedS. A literature review of articles published until September 2021 for functional outcome measures generated an item pool for pilot testing. The results of this pilot testing, alongside analysis of existing CMTPedS item scores in the RTD cohort, informed the modification of the CMTPedS.

Results

CMTPedS data were reviewed for eight individuals over the past 10 years. Two items were identified as requiring modification or removal and additional items of proximal strength and function needed to be considered. Six studies were identified in the literature review, and five items were selected for pilot testing. ‘Shoulder internal rotation’ and the ‘30-s sit to stand test’ were added as proximal measures of strength and function. The composite balance item comprising nine tasks in the CMTPedS showed a ceiling effect and was replaced with the single ‘Feet apart on a line eyes open’ balance item. ‘Pinprick sensation’ was removed due to a floor effect.

Interpretation

This study provides preliminary evidence that the Riboflavin Transporter Deficiency Pediatric Scale (RTDPedS) is a functional outcome measure covering strength, upper and lower limb function, balance and mobility for individuals with RTD to assess disease severity and progression in clinical trials and cohort studies.

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来源期刊
CiteScore
6.10
自引率
7.90%
发文量
45
审稿时长
>12 weeks
期刊介绍: The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
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