The Charcot‐Marie‐Tooth Health Index (CMT‐HI) is a disease‐specific patient‐reported outcome measure measuring overall disease burden in Charcot‐Marie‐Tooth (CMT) patients, designed for natural history studies and clinical trials in English‐speaking affected individuals. We developed and validated its Italian Charcot‐Marie‐Tooth Health Index (I‐CMT‐HI) version. The questionnaire was translated and culturally adapted from source into Italian by two neurologists experienced in CMT and neuromuscular disorders (NMDs). The two translations were reviewed by a panel of seven experts in CMT and NMD. The provisional version was back‐translated into English by a professional translator. The definitive Italian version was developed during a consensus teleconference by the panel and a patient representative from ACMT‐Rete. A series of clinically and genetically characterized CMT patients completed the final questionnaire; 11 participated in a test‐retest reliability assessment of the instrument. The I‐CMT‐HI was administered to 30 CMT patients (13 CMT1A, eight CMTX1, two CMT1B, two CMT1E, two CMT2I, one CMT2A, one CMT2N, one distal Hereditary Motor Neuropathy), with test‐rest in 11:14 females and 16 males, aged (mean ± SD) 48.0 ± 16.4 years (range 18‐81), with CMT Examination Score (CMTES) = 10.0 ± 4.4 (range 2‐18). The I‐CMT‐HI mean total score was 29.4 ± 21.2 (range 0.1‐60.3). The I‐CMT‐HI showed a high test‐retest reliability: intraclass correlation coefficient = 0.95 (95% confidence interval, 0.84‐0.99). No patient had difficulty in completing the questionnaire and none reported any problem with the questions' formulation. The total CMT‐HI score was positively correlated with age and CMTES, with higher disease burden with increasing age and disease severity according to the CMTES. The I‐CMT‐HI is now ready for use in clinical studies in the Italian population.

中文翻译：

---

意大利版 Charcot-Marie-Tooth 健康指数的验证。

Charcot-Marie-Tooth 健康指数 (CMT-HI) 是一种疾病特定的患者报告结果指标，用于衡量 Charcot-Marie-Tooth (CMT) 患者的整体疾病负担，专为英语自然史研究和临床试验而设计受影响的个人。我们开发并验证了其意大利 Charcot-Marie-Tooth 健康指数 (I-CMT-HI) 版本。调查问卷由两位在 CMT 和神经肌肉疾病 (NMD) 方面经验丰富的神经学家翻译和文化改编成意大利语。这两个翻译由 CMT 和 NMD 的七位专家组成的小组审阅。临时版本由专业翻译人员回译成英文。最终的意大利语版本是在专家组和 ACMT-Rete 的患者代表的共识电话会议期间制定的。一系列具有临床和基因特征的 CMT 患者完成了最终问卷；11 人参加了该仪器的重测信度评估。对 30 名 CMT 患者（13 名 CMT1A、8 名 CMTX1、2 名 CMT1B、2 名 CMT1E、2 名 CMT2I、1 名 CMT2A、1 名 CMT2N、1 名远端遗传性运动神经病）进行了 I-CMT-HI，并在 11:14 的女性中进行了测试休息和 16 名男性，年龄（平均值 ± SD）48.0 ± 16.4 岁（范围 18-81），CMT 考试分数 (CMTES) = 10.0 ± 4.4（范围 2-18）。I-CMT-HI 平均总分为 29.4 ± 21.2（范围 0.1-60.3）。I-CMT-HI 显示出较高的重测信度：组内相关系数 = 0.95（95% 置信区间，0.84-0.99）。没有患者在完成问卷时遇到困难，也没有患者报告问题的制定有任何问题。CMT-HI 总分与年龄和 CMTES 呈正相关，根据 CMTES，随着年龄和疾病严重程度的增加，疾病负担更高。I-CMT-HI 现在已准备好用于意大利人群的临床研究。