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
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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  • [1] A Health Telematics Policy in Support of WHO’s Health-For-All Strategy for Global Health Development: Report of the WHO Group Consultation on Health Telematics, 11–16 December, Geneva, 1997, (1998)
  • [2] Adachi T., El-Hattab A.W., Jain R., Nogales Crespo K.A., Quirland Lazo C.I., Scarpa M., Summar M., Wattanasirichaigoon D., Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges, Int. J. Envron. Res. Public Health, 20, (2023)
  • [3] Chung C.C.Y., Chu A.T.W., Chung B.H.Y., Rare Disease Emerging as a Global Public Health Priority, Front. Public Health, 10, (2022)
  • [4] Leon-Salas B., Gonzalez-Hernandez Y., Infante-Ventura D., De Armas-Castellano A., Garcia-Garcia J., Garcia-Hernandez M., Carmona-Rodriguez M., Olazaran J., Dobato J.L., Rodriguez-Rodriguez L., Et al., Telemedicine for Neurological Diseases: A Systematic Review and Meta-analysis, Eur. J. Neurol, 30, pp. 241-254, (2023)
  • [5] Esposito S., Rosafio C., Antodaro F., Argentiero A., Bassi M., Becherucci P., Bonsanto F., Cagliero A., Cannata G., Capello F., Et al., Use of Telemedicine Healthcare Systems in Children and Adolescents with Chronic Disease or in Transition Stages of Life: Consensus Document of the Italian Society of Telemedicine (SIT), of the Italian Society of Preventive and Social Pediatrics (SIPPS), of the Italian Society of Pediatric Primary Care (SICuPP), of the Italian Federation of Pediatric Doctors (FI
  • [6] Holler A., Welte S., Schonlaub A.K., Uhlisch C., Scholl-Burgi S., Male-Dressler A., Pfeifer B., Schreier G., Telemedicine for Ketogenic Dietary Treatment in Refractory Epilepsy and Inherited Metabolic Disease: State of Play and Future Perspectives, Stud. Health Technol. Inform, 313, pp. 160-166, (2024)
  • [7] Rovelli V., Zuvadelli J., Ercoli V., Montanari C., Paci S., Dionigi A.R., Scopari A., Salvatici E., Cefalo G., Banderali G., PKU and COVID19: How the Pandemic Changed Metabolic Control, Mol. Genet. Metab. Rep, 27, (2021)
  • [8] Witt S., Schuett K., Wiegand-Grefe S., Boettcher J., Quitmann J., Living with a Rare Disease-Experiences and Needs in Pediatric Patients and Their Parents, Orphanet. J. Rare Dis, 18, (2023)
  • [9] Teutsch S., Zurynski Y., Eslick G.D., Deverell M., Christodoulou J., Leonard H., Dalkeith T., Johnson S.L.J., Elliott E.J., Australian Children Living with Rare Diseases: Health Service Use and Barriers to Accessing Care, World J. Pediatr, 19, pp. 701-709, (2023)
  • [10] Rosselli D., Rueda J.-D., Solano M., Ethical and Economic Considerations of Rare Diseases in Ethnic Minorities: The Case of Mucopolysaccharidosis VI in Colombia, J. Med. Ethics, 38, pp. 699-700, (2012)