International Center for the Assessment of Nutritional Status (ICANS), Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan, Via Sandro Botticelli 21, 20133, Milan, Italy.
UO Neurologia dello Sviluppo, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Orphanet J Rare Dis. 2021 Sep 4;16(1):375. doi: 10.1186/s13023-021-02015-9.
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but are not able to walk independently. The Standards of Care has improved quality of life and the increasing availability of disease-modifying treatments is progressively changing the natural history; so, the clinical assessment of nutritional status has become even more crucial. Aims of this multicenter study were to present the growth pattern of treatment-naïve SMA1 and SMA2, and to compare it with the general growth standards.
Body Weight (BW, kg) and Supine Length (SL, cm) were collected using a published standardized procedure. SMA-specific growth percentiles curves were developed and compared to the WHO reference data. We recruited 133 SMA1 and 82 SMA2 (48.8% females). Mean ages were 0.6 (0.4-1.6) and 4.1 (2.1-6.7) years, respectively. We present here a set of disease-specific percentiles curves of BW, SL, and BMI-for-age for girls and boys with SMA1 and SMA2. These curves show that BW is significantly lower in SMA than healthy peers, while SL is more variable. BMI is also typically lower in both sexes and at all ages.
These data on treatment-naïve patients point toward a better understanding of growth in SMA and could be useful to improve the clinical management and to assess the efficacy of the available and forthcoming therapies not only on motor function, but also on growth.
脊髓性肌萎缩症（SMA）是一种以肌肉萎缩和无力为特征的神经肌肉疾病。SMA 型 1（SMA1）是最严重的形式：受影响的婴儿无法独立坐立；SMA 型 2（SMA2）的儿童可以坐立，但无法独立行走。治疗标准已经提高了生活质量，并且越来越多的疾病修正治疗方法正在逐渐改变其自然病史；因此，对营养状况的临床评估变得更加重要。本多中心研究的目的是介绍未经治疗的 SMA1 和 SMA2 的生长模式，并将其与一般生长标准进行比较。
使用已发表的标准化程序收集体重（BW，kg）和仰卧长度（SL，cm）。制定了 SMA 特异性生长百分位数曲线，并与世界卫生组织（WHO）参考数据进行了比较。我们招募了 133 名 SMA1 和 82 名 SMA2（48.8%为女性）。平均年龄分别为 0.6（0.4-1.6）和 4.1（2.1-6.7）岁。我们在此介绍了一组 SMA1 和 SMA2 女孩和男孩的 BW、SL 和 BMI 年龄别疾病特异性百分位数曲线。这些曲线表明，BW 在 SMA 中明显低于健康同龄人，而 SL 则更具变异性。BMI 在两性和所有年龄段通常也较低。
这些关于未经治疗的患者的数据有助于更好地了解 SMA 的生长情况，并可能有助于改善临床管理，并评估现有和即将推出的治疗方法对运动功能和生长的疗效。
