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唐氏综合征患儿的营养——当前知识、挑战及临床建议——一项叙述性综述

Nutrition for Children with Down Syndrome-Current Knowledge, Challenges, and Clinical Recommendations-A Narrative Review.

作者信息

Żur Sebastian, Sokal Adam, Staśkiewicz-Bartecka Wiktoria, Kiciak Agata, Grajek Mateusz, Krupa-Kotara Karolina, Kowalski Oskar, Białek-Dratwa Agnieszka

机构信息

Department of Human Nutrition, Department of Dietetics, Faculty of Public Health in Bytom, Medical University of Silesia in Katowice, Jordana 19, 41-808 Zabrze, Poland.

Department of Food Technology and Quality Evaluation, Department of Dietetics, Faculty of Public Health in Bytom, Medical University of Silesia in Katowice, Jordana 19, 41-808 Zabrze, Poland.

出版信息

Healthcare (Basel). 2025 Sep 4;13(17):2222. doi: 10.3390/healthcare13172222.

Abstract

Children with Down syndrome (DS) present unique and multifaceted nutritional challenges arising from genetic, metabolic, and developmental factors. Despite growing interest in the health of individuals with DS, dedicated nutritional guidelines tailored to their specific needs remain lacking. This narrative review aims to summarize current scientific evidence on nutritional status, challenges, and therapeutic strategies in children with DS, with an emphasis on clinical implications and practical recommendations for healthcare professionals. A literature search was conducted across four databases (PubMed, Scopus, Web of Science, and Google Scholar) for English-language publications from 1993 to June 2025. Thirty-five peer-reviewed articles were included, comprising original studies, narrative reviews, and expert guidelines (e.g., the American Academy of Pediatrics [AAP], the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN], and the European Federation of Associations of Dietitians [EFAD]). The selection process followed the PRISMA protocol. Studies were categorized according to key themes: energy requirements, comorbidities, feeding difficulties, nutrient needs, and therapeutic interventions. Children with DS typically exhibit lower basal metabolic rates and altered body composition (i.e., higher fat mass and reduced lean mass), which increase their risk of both obesity and nutrient deficiencies. Common comorbidities-such as hypothyroidism, celiac disease, and gastrointestinal or immune disorders-further complicate dietary management. Feeding difficulties, including sucking/swallowing impairments, food selectivity, neophobia, and delayed independence in eating, are prevalent and significantly affect diet quality. Key nutrients of concern include protein, omega-3 fatty acids, fiber, vitamins B12 and D, iron, and antioxidants. Although no official nutrition guidelines currently exist for this population, existing recommendations from pediatric and dietetic organizations provide partial guidance that can be adapted to clinical practice. There is an urgent need to develop evidence-based, population-specific dietary guidelines for children with Down syndrome. Clinical nutrition care should be individualized, multidisciplinary, and proactive, integrating regular assessments of growth, feeding abilities, and biochemical markers. Dietitians must play a central role in both early intervention and long-term management. Further research, particularly interventional studies, is essential to optimize dietary strategies and improve health outcomes in this vulnerable population.

摘要

唐氏综合征(DS)患儿由于遗传、代谢和发育因素面临着独特且多方面的营养挑战。尽管人们对DS患者的健康关注度不断提高,但针对其特殊需求的专门营养指南仍然缺乏。本叙述性综述旨在总结关于DS患儿营养状况、挑战及治疗策略的现有科学证据,重点关注对医疗保健专业人员的临床意义和实用建议。通过在四个数据库(PubMed、Scopus、Web of Science和谷歌学术)中进行文献检索,查找1993年至2025年6月期间的英文出版物。纳入了35篇经过同行评审的文章,包括原创研究、叙述性综述和专家指南(如美国儿科学会[AAP]、欧洲儿科胃肠病学、肝病学和营养学会[ESPGHAN]以及欧洲营养师协会联合会[EFAD])。选择过程遵循PRISMA协议。研究根据关键主题进行分类:能量需求、合并症、喂养困难、营养需求和治疗干预。DS患儿通常表现出较低的基础代谢率和改变的身体成分(即较高的脂肪量和减少的瘦体重),这增加了他们肥胖和营养缺乏的风险。常见的合并症,如甲状腺功能减退、乳糜泻以及胃肠道或免疫紊乱,使饮食管理更加复杂。喂养困难,包括吸吮/吞咽障碍、食物选择性、新食物恐惧症和进食独立性延迟,很普遍且显著影响饮食质量。值得关注的关键营养素包括蛋白质、ω-3脂肪酸、纤维、维生素B12和D、铁以及抗氧化剂。尽管目前该人群尚无官方营养指南,但儿科和饮食组织的现有建议提供了部分可应用于临床实践的指导。迫切需要为唐氏综合征患儿制定基于证据、针对特定人群的饮食指南。临床营养护理应个性化、多学科且积极主动,整合对生长、喂养能力和生化指标的定期评估。营养师必须在早期干预和长期管理中发挥核心作用。进一步的研究,尤其是干预性研究,对于优化饮食策略和改善这一弱势群体的健康结局至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/033e/12428001/54c6acf7935b/healthcare-13-02222-g001.jpg

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