This study examined the association between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT).

We conducted a cross-sectional analysis of 477 patients with CMT who were 3 to 20 years of age from the Inherited Neuropathy Consortium and 316 age- and sex-matched healthy children from the 1,000 Norms Project. BMI was categorized according to the International Obesity Task Force (IOTF) criteria, and BMI categorization was compared with healthy children. IOTF categories (adult equivalent BMI cut points) were severely underweight (BMI <17 kg/m²), underweight (BMI ≥17–<18.5 kg/m²), healthy weight (BMI ≥18.5–<25 kg/m²), overweight (BMI ≥25–<30 kg/m²), and obese (BMI ≥30 kg/m²). Scores on the 0 to 44–point CMT Pediatric Scale (CMTPedS), a well-validated measure of disability, were examined in relation to BMI.

There was a higher proportion of children with CMT categorized as severely underweight (5.7% vs 0.3%), underweight (10.3% vs 5.1%), and obese (7.3% vs 3.8%) (p < 0.05). Fewer children with CMT were categorized as healthy weight (61.8% vs 74.4%) (p < 0.05), and the proportion of overweight (14.9% vs 16.5%) between groups was similar. CMTPedS scores (mean ± SD) for weight categories were as follows: severely underweight 27 ± 9, underweight 20 ± 8, healthy weight 17 ± 9, overweight 17 ± 9, and obese 22 ± 10. Compared to children with a healthy weight with CMT, being severely underweight was associated with being more disabled (p < 0.001), as was being obese (p = 0.015).

The proportion of children with CMT who are underweight or obese is higher compared to age- and sex-matched healthy children. In children with CMT, being underweight or obese is associated with greater disability, when compared to children with CMT of healthy weight.

本研究探讨了患有腓骨肌萎缩症 (CMT) 的儿童的体重指数 (BMI) 与残疾之间的关系。

我们对来自遗传性神经病联盟的 477 名 3 至 20 岁 CMT 患者以及来自 1,000 标准项目的 316 名年龄和性别匹配的健康儿童进行了横断面分析。根据国际肥胖工作组（IOTF）标准对BMI进行分类，并将BMI分类与健康儿童进行比较。IOTF类别（成人等效BMI切点）为严重体重不足（BMI <17 kg/m ²）、体重不足（BMI ≥17–<18.5 kg/m ²）、健康体重（BMI ≥18.5–<25 kg/m ²） 、超重（BMI ≥25–<30 kg/m ²）和肥胖（BMI ≥30 kg/m ²）。我们检查了 0 至 44 分 CMT 儿科量表 (CMTPedS) 的分数（一种经过充分验证的残疾衡量标准）与 BMI 的关系。

患有 CMT 的儿童中，体重严重不足（5.7% vs 0.3%）、体重不足（10.3% vs 5.1%）和肥胖（7.3% vs 3.8%）的比例较高（p < 0.05 ）。被归类为健康体重的 CMT 儿童较少（61.8% vs 74.4%）（p < 0.05），组间超重比例（14.9% vs 16.5%）相似。体重类别的 CMTPedS 评分（平均值±标准差）如下：体重严重不足 27 ± 9、体重不足 20 ± 8、健康体重 17 ± 9、超重 17 ± 9 和肥胖 22 ± 10。 CMT 体重严重不足与残疾程度增加相关（p < 0.001），肥胖也是如此（p = 0.015）。

与年龄和性别匹配的健康儿童相比，患有 CMT 的儿童体重不足或肥胖的比例更高。与健康体重的 CMT 儿童相比，患有 CMT 的儿童体重不足或肥胖与更大的残疾相关。