Abstract：
The nutritional implications of spinal muscular atrophy (SMA) are profound. Disease modifying therapies (DMT) have improved clinical outcomes. This review describes the impact of DMT on nutrition outcomes. A systematic search strategy was applied across seven databases until May 2023. Eligible studies measured nutrition outcomes in individuals with SMA on DMT (nusinersen, risdiplam or onasemnogene abeparvovec [OA]) compared to untreated comparators. Nutrition outcomes included anthropometry, feeding route, swallowing dysfunction, dietary intake, dietetic intervention, nutritional biochemistry, metabolism, gastrointestinal issues and energy expenditure. Articles retrieved were screened in duplicate, data were extracted and appraised systematically. Sixty three articles from 54 studies were included; 41% (n = 22) investigated nusinersen in pediatric participants with SMA type 1. Anthropometry (n = 18), feeding route (n = 39), and swallowing dysfunction (n = 18) were the most commonly reported outcomes. In combined pediatric and adult cohorts, BMI z-score remained stable post nusinersen therapy. The proportion of children with SMA requiring enteral nutrition was stable post nusinersen therapy. Ability to thrive at age 1.5 years was higher in children treated in early infancy with OA compared to historical controls. Significant heterogeneity existed across study population characteristics and outcome measures. Nusinersen may prevent deterioration in some nutrition outcomes; and OA in early infancy may be associated with improved nutrition outcomes. Timing of DMT initiation is an important consideration for future nutrition research. Studies investigating nutrition as a primary outcome of DMT, using consistent outcome measures are required for nutritional management strategies for this cohort to be appropriately tailored.
摘要：
脊髓性肌萎缩症（SMA）的营养意义深远。疾病改善疗法(DMT)改善了临床结果。这篇综述描述了DMT对营养结果的影响。直到2023年5月，系统的搜索策略已在七个数据库中应用。符合条件的研究测量了DMT上SMA患者的营养结果(nusinersen，risdiplam或onasemnogeneabeparvovec[OA]）与未处理的比较物相比。营养结果包括人体测量，喂食路线,吞咽功能障碍,饮食摄入量，饮食干预，营养生物化学，新陈代谢，胃肠道问题和能量消耗。检索到的文章一式两份进行筛选，对数据进行了系统的提取和评价。纳入了54项研究的63篇文章；41％（n=22）调查了1型SMA儿科参与者的nusinersen。人体测量学（n=18），喂食路线(n=39)，和吞咽功能障碍(n=18)是最常见的结局.在合并的儿科和成人队列中，nusinersen治疗后BMIz评分保持稳定。nusinersen治疗后，需要肠内营养的SMA患儿比例稳定。与历史对照相比，在婴儿早期接受OA治疗的儿童在1.5岁时茁壮成长的能力更高。在研究人群特征和结果测量中存在显著的异质性。Nusinersen可以预防某些营养结局的恶化；婴儿期早期的OA可能与营养结局的改善有关。DMT起始时间是未来营养研究的重要考虑因素。研究将营养作为DMT的主要结果，需要使用一致的结局衡量标准,以适当调整该队列的营养管理策略.
