Eletti Francesca, Tagi Veronica Maria, Greco Ilenia Pia, Stucchi Eliana, Fiore Giulia, Bonaventura Eleonora, Bruschi Fabio, Tonduti Davide, Verduci Elvira, Zuccotti Gianvincenzo
Department of Pediatrics, Vittore Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy.
Department of Biomedical and Clinical Science, University of Milan, 20157 Milan, Italy.
Nutrients. 2025 Jan 26;17(3):455. doi: 10.3390/nu17030455.
Telemedicine represents a growing opportunity to improve access to personalized care for patients with rare diseases, addressing the challenges of specialized healthcare that is often limited by geographical barriers. The aim of this narrative review is to explore how telemedicine can facilitate tailored nutritional interventions for rare diseases, focusing on inherited metabolic diseases, rare neurological disorders, such as leukodystrophies, and neuromuscular disorders, including spinal muscular atrophies. This narrative review is based on a systematic search of the published literature over the past 20 years, and includes systematic reviews, meta-analysis, retrospective studies, and original articles. References were selected through searches in databases such as PubMed and Scopus, applying predefined inclusion and exclusion criteria. Among the inclusion criteria, studies focusing on pediatric patients aged 0 to 18 years, diagnosed with rare neurological diseases or inherited metabolic disorders, and using telemedicine in addition to in-person visits at their reference center were considered. Among the exclusion criteria, studies involving patients with other pathologies or comorbidities and those involving patients older than 18 years were excluded. A total of 66 documents were analyzed to examine the challenges and specific needs of patients with rare diseases, highlighting the advantages and limitations of telemedicine compared to traditional care. The use of telemedicine has revolutionized the medical approach, facilitating integrated care by multidisciplinary teams. Telemedicine still faces several technical, organizational, and security challenges, as well as disparities in access across different geographical areas. Emerging technologies such as artificial intelligence could positively transform the monitoring and management of patients with rare diseases. Telemedicine has great potential ahead of it in the development of increasingly personalized and effective care, in fact, emerging technologies are important to provide remote care, especially for patients with rare diseases.
远程医疗为改善罕见病患者获得个性化护理的机会提供了越来越多的可能，解决了专科医疗常常受到地理障碍限制的挑战。本叙述性综述的目的是探讨远程医疗如何促进针对罕见病的个性化营养干预，重点关注遗传性代谢疾病、罕见神经疾病（如脑白质营养不良）以及神经肌肉疾病（包括脊髓性肌萎缩症）。本叙述性综述基于对过去20年已发表文献的系统检索，包括系统评价、荟萃分析、回顾性研究和原创文章。通过在PubMed和Scopus等数据库中检索，应用预定义的纳入和排除标准来选择参考文献。纳入标准中，考虑聚焦于0至18岁被诊断患有罕见神经疾病或遗传性代谢疾病的儿科患者，且除了在其参考中心进行面对面就诊外还使用远程医疗的研究。排除标准中，排除涉及患有其他病理或合并症患者的研究以及涉及18岁以上患者的研究。共分析了66份文献，以研究罕见病患者的挑战和特殊需求，突出远程医疗相较于传统护理的优势和局限性。远程医疗的使用彻底改变了医疗方式，促进了多学科团队的综合护理。远程医疗仍面临若干技术、组织和安全挑战，以及不同地理区域在获取医疗服务方面的差异。人工智能等新兴技术可能会积极改变对罕见病患者的监测和管理。远程医疗在发展日益个性化和有效的护理方面前景广阔，事实上，新兴技术对于提供远程护理至关重要，尤其是对于罕见病患者。
