Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives

被引：0
作者：
Eletti, Francesca [1 ,2 ]
Tagi, Veronica Maria [1 ,2 ]
Greco, Ilenia Pia [1 ]
Stucchi, Eliana [1 ]
Fiore, Giulia [1 ,2 ]
Bonaventura, Eleonora [3 ,4 ]
Bruschi, Fabio [2 ,4 ]
Tonduti, Davide [2 ,4 ]
Verduci, Elvira [5 ,6 ]
Zuccotti, Gianvincenzo [1 ,2 ]
机构：
[1] Univ Milan, Vittore Buzzi Childrens Hosp, Dept Pediat, I-20154 Milan, Italy
[2] Univ Milan, Dept Biomed & Clin Sci, I-20157 Milan, Italy
[3] Buzzi Childrens Hosp, Child Neurol Unit, I-20154 Milan, Italy
[4] V Buzzi Childrens Hosp, COALA Ctr Diag & Treatment Leukodystrophies, Unit Pediat Neurol, I-20154 Milan, Italy
[5] Univ Milan, Dept Hlth Sci, I-20146 Milan, Italy
[6] Univ Milan, Vittore Buzzi Childrens Hosp, Dept Pediat, Metab Dis Unit, I-20154 Milan, Italy
来源：
NUTRIENTS | 2025年 / 17卷 / 03期
关键词：
telehealth; telemedicine; neurological impairment; nutrition; rare diseases; inherited metabolic diseases; artificial intelligence; OROPHARYNGEAL DYSPHAGIA; CEREBRAL-PALSY; CHILDREN; TECHNOLOGIES;
D O I：
10.3390/nu17030455
中图分类号：
R15 [营养卫生、食品卫生]; TS201 [基础科学];
学科分类号：
100403 ;
摘要：
Background: 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. Methods: 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. Results: 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. Conclusions: 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.
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页数：15
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