32例威廉姆斯综合征儿童营养状况分析

Nutritional status in 32 children with Williams syndrome

摘要

目的 分析威廉姆斯综合征(WS)儿童的营养状况,为WS患儿的规范化营养管理提供临床参考。方法 采用横断面调查,纳入2023年3—9月就诊于浙江大学医学院附属儿童医院并经基因检测确诊的42例WS患儿;其中4例未完成膳食调查、6例因饮食记录不全被排除,最终32例纳入人体测量与膳食摄入分析。采用营养风险及发育不良筛查工具(STRONGkids)进行营养风险筛查;测量身高、体重并基于WHO 2006生长标准使用WHO Anthro/AnthroPlus计算年龄别身高Z评分(HAZ)、身高别体重Z评分(WHZ)(<5岁)与年龄别体质量指数Z评分BAZ(≥5岁),以WHZ/BAZ<-2判定为消瘦、HAZ<-2判定为生长迟缓,符合任一项诊断为营养不良。采用3天饮食记录法评估膳食摄入,利用营养软件计算日均能量及三大产能营养素摄入量,并按实际摄入量/同年龄同性别DRIs×100%计算摄入占比,<80%定义为摄入不足。结果 32例WS患儿中,男24例(75.0%)、女8例(25.0%),平均年龄3.88岁。STRONGkids筛查中风险12例(37.5%)、高风险19例(59.4%)。营养不良13例(40.6%)。能量摄入不足27例(84.4%),碳水化合物摄入不足29例(90.6%),脂肪摄入不足23例(71.9%),蛋白质摄入不足4例(12.5%)。结论 WS儿童营养风险较高,营养不良发生率较高,且能量及宏量营养素摄入普遍不足。建议开展持续的营养监测与个体化营养干预,以改善其营养结局。

Abstract

Objective To characterize nutritional status of children with Williams syndrome (WS), so as to provide clinical evidence for standardized nutritional management. Methods A cross-sectional survey was conducted in children with genetically confirmed WS who attended the Children′s Hospital, Zhejiang University School of Medicine, from March to September 2023.Forty-two children were enrolled; 4 did not complete the dietary survey and 6 were excluded due to incomplete dietary records, leaving 32 children for the anthropometric and dietary analysis.Nutritional risk was assessed using STRONGkids.Height and weight were measured, and Z-scores were calculated based on the WHO 2006 growth standards using WHO Anthro/AnthroPlus, including height-for-age Z score (HAZ), weight-for-height Z score (WHZ,<5 years old), and BMI-for-age Z score (BAZ, ≥5 years old).Wasting was defined as WHZ/BAZ<-2 and stunting as HAZ<-2; either criterion indicated malnutrition.Dietary intake was assessed using 3-day food records.Daily mean energy and macronutrient intakes were calculated with nutrition software, and adequacy was expressed as intake/age- and sex-specific DRIs ×100%;<80% was considered inadequate. Results Among the 32 children, 24 (75.0%) were male and 8 (25.0%) were female, with a mean age of 3.88 years old.STRONGkids indicated moderate risk in 13 (40.6%) children and high risk in 19 (59.4%) children.Malnutrition was identified in 12 (37.5%) children.Inadequate intake was observed for energy in 27 (84.4%) children, carbohydrate in 29 (90.6%) children, fat in 23 (71.9%) children, and protein in 4 (12.5%) children. Conclusions Children with WS have a high nutritional risk and a considerable prevalence of malnutrition, along with widespread inadequacy of energy and macronutrient intake.Long-term nutritional assessment and individualized interventions are warranted to improve the nutritional outcome.

关键词

威廉姆斯综合征 / 营养状况 / 能量营养素 / 营养不良 / 膳食调查 / 儿童

Key words

Williams syndrome / nutritional status / energy nutrients / malnutrition / dietary survey / children

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基金资助

国家重点研发计划(2024YFC3308300)