Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy.
Università Cattolica del Sacro Cuore, 00168, Rome, Italy.
Eur J Pediatr. 2024 Oct;183(10):4563-4571. doi: 10.1007/s00431-024-05715-z. Epub 2024 Aug 20.
Our study aims to define resting energy expenditure (REE) and describe the main nutritional patterns in a single-center cohort of children with Smith-Magenis syndrome (SMS). REE was calculated using indirect calorimetry. Patients' metabolic status was assessed by comparing measured REE (mREE) with predictive REE (pREE). Patients also underwent multidisciplinary evaluation, anthropometric measurements and an assessment of average energy intake, using a 3-day food diary, which was reviewed by a specialized dietitian. Twenty-four patients (13 M) were included, the median age was 9 years (IC 95%, 6-14 years), 84% had 17p11.2 deletion, and 16% had RAI1 variants. REE was not reduced in SMS pediatric patients, and the mREE did not differ from the pREE. In patients with RAI1 variants (16%, n = 3/24), obesity was more prevalent than those with 17p11.2 deletion (100% vs 38%). Lower proteins intake and higher total energy intake were reported in obese and overweight patients, compared to healthy weight children. No significant difference was found between males and females in energy or macronutrient intake.
In SMS, the onset of obesity is not explained by REE abnormalities, but dietary factors seem to be crucial. Greater concern should be addressed to patients with RAI1 variants. A better understanding of the molecular mechanisms causing obesity in SMS patients could set the basis for possible future targeted therapies.
• More than 90% of SMS patients after the age of 10 are overweight or obese.
• Onset of overweight and obesity in SMS pediatric patients is not explained by abnormal resting energy expenditure. • The development of syndrome-specific dietary guidelines for SMS patients should be of utmost relevance and are highly needed.
本研究旨在定义静止能量消耗（REE），并描述单一中心队列中 Smith-Magenis 综合征（SMS）患儿的主要营养模式。REE 通过间接热量法计算。通过比较实测 REE（mREE）与预测 REE（pREE）来评估患者的代谢状态。患者还接受了多学科评估、人体测量学测量以及平均能量摄入评估，方法是使用 3 天食物日记，由专门的营养师进行审查。
纳入了 24 名患者（13 名男性），中位年龄为 9 岁（IC95%，6-14 岁），84%有 17p11.2 缺失，16%有 RAI1 变异。SMS 儿科患者的 REE 并未降低，且 mREE 与 pREE 无差异。在有 RAI1 变异的患者（16%，n=3/24）中，肥胖的比例高于 17p11.2 缺失的患者（100%比 38%）。与健康体重的儿童相比，肥胖和超重患者的蛋白质摄入量较低，总能量摄入量较高。男性和女性的能量或宏量营养素摄入量之间没有发现显著差异。
在 SMS 中，肥胖的发生不是由 REE 异常引起的，但饮食因素似乎很重要。对于有 RAI1 变异的患者应更加关注。更好地了解导致 SMS 患者肥胖的分子机制可能为未来可能的靶向治疗奠定基础。
•10 岁以上的 SMS 患者超过 90%超重或肥胖。
•超重和肥胖在 SMS 儿科患者中的发生不能用异常的静息能量消耗来解释。•制定针对 SMS 患者的综合征特异性饮食指南应是至关重要的，并且非常有必要。
