Abstract：
Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common nutrition issues include feeding difficulties, obesity, and metabolic complications. This systematic scoping review aimed to identify key nutrition issues, management strategies, and gaps in knowledge regarding nutrition in skeletal dysplasia.
The databases Ovid MEDLINE, Ovid EMBASE, Ebsco CINAHL, Scopus, and Cochrane Central Register of Controlled Trials and Database of Systematic Reviews were searched. Reference lists and citing literature for included studies were searched. Eligible studies included participants with skeletal dysplasia and described: anthropometry, body composition, nutrition-related biochemistry, clinical issues, dietary intake, measured energy or nutrition requirements, or nutrition interventions.
The literature search identified 8509 references from which 138 studies were included (130 observational, 3 intervention, 2 systematic reviews, and 3 clinical guidelines). Across 17 diagnoses identified, most studies described osteogenesis imperfecta (n = 50) and achondroplasia or hypochondroplasia (n = 47). Nutrition-related clinical issues, biochemistry, obesity, and metabolic complications were most commonly reported, and few studies measured energy requirements (n = 5).
Nutrition-related comorbidities are documented in skeletal dysplasia; yet, evidence to guide management is scarce. Evidence describing nutrition in rarer skeletal dysplasia conditions is lacking. Advances in skeletal dysplasia nutrition knowledge is needed to optimize broader health outcomes.
The databases Ovid MEDLINE, Ovid EMBASE, Ebsco CINAHL, Scopus, and Cochrane Central Register of Controlled Trials and Database of Systematic Reviews were searched. Reference lists and citing literature for included studies were searched. Eligible studies included participants with skeletal dysplasia and described: anthropometry, body composition, nutrition-related biochemistry, clinical issues, dietary intake, measured energy or nutrition requirements, or nutrition interventions.
The literature search identified 8509 references from which 138 studies were included (130 observational, 3 intervention, 2 systematic reviews, and 3 clinical guidelines). Across 17 diagnoses identified, most studies described osteogenesis imperfecta (n = 50) and achondroplasia or hypochondroplasia (n = 47). Nutrition-related clinical issues, biochemistry, obesity, and metabolic complications were most commonly reported, and few studies measured energy requirements (n = 5).
Nutrition-related comorbidities are documented in skeletal dysplasia; yet, evidence to guide management is scarce. Evidence describing nutrition in rarer skeletal dysplasia conditions is lacking. Advances in skeletal dysplasia nutrition knowledge is needed to optimize broader health outcomes.
摘要：
目的：骨骼发育不良是影响骨骼的异质性疾病。常见的营养问题包括喂养困难，肥胖，和代谢并发症。这项系统的范围审查旨在确定关键的营养问题，骨骼发育不良营养相关知识的管理策略和差距。
方法：数据库OvidMEDLINE，OvidEmbase,EbscoCINAHL,搜索了Scopus和Cochrane中央对照试验登记册和系统评价数据库。检索了纳入研究的参考列表和引用文献。符合条件的研究包括骨骼发育不良的参与者，并描述：人体测量学，身体成分,营养相关生物化学，临床问题,饮食摄入量，测量能量或营养需求或营养干预。
结果：文献检索确定了8509个参考文献，其中包括138个研究（130个观察性，三个干预,两项系统评价和三项临床指南)。在确定的17个诊断中，大多数研究描述了成骨不全症（n=50）和软骨发育不全或软骨发育不全（n=47）。营养相关的临床问题，生物化学,肥胖，代谢并发症是最常见的报道，很少有研究测量能源需求(n=5)。
结论：在骨骼发育不良中记录了与营养相关的合并症，然而，指导管理的证据很少。缺乏描述罕见骨骼发育不良状况下营养的证据。需要骨骼发育不良营养知识的进步来优化更广泛的健康结果。
方法：数据库OvidMEDLINE，OvidEmbase,EbscoCINAHL,搜索了Scopus和Cochrane中央对照试验登记册和系统评价数据库。检索了纳入研究的参考列表和引用文献。符合条件的研究包括骨骼发育不良的参与者，并描述：人体测量学，身体成分,营养相关生物化学，临床问题,饮食摄入量，测量能量或营养需求或营养干预。
结果：文献检索确定了8509个参考文献，其中包括138个研究（130个观察性，三个干预,两项系统评价和三项临床指南)。在确定的17个诊断中，大多数研究描述了成骨不全症（n=50）和软骨发育不全或软骨发育不全（n=47）。营养相关的临床问题，生物化学,肥胖，代谢并发症是最常见的报道，很少有研究测量能源需求(n=5)。
结论：在骨骼发育不良中记录了与营养相关的合并症，然而，指导管理的证据很少。缺乏描述罕见骨骼发育不良状况下营养的证据。需要骨骼发育不良营养知识的进步来优化更广泛的健康结果。
