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COVID-19 大流行对罕见脑部疾病以及共济失调、肌张力障碍和苯丙酮尿症的连续护理提供的影响。范围综述。

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.

机构信息

Institute of Management, Scuola Superiore Sant'Anna, Pisa, Italy.

European Brain Council, Brussels, Belgium.

出版信息

Orphanet J Rare Dis. 2024 Feb 21;19(1):81. doi: 10.1186/s13023-023-03005-9.


DOI:10.1186/s13023-023-03005-9
PMID:38383420
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10880288/
Abstract

One of the most relevant challenges for healthcare providers during the COVID- 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID-19 pandemic accelerated the healthcare sector's digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded and, many healthcare services not directly related to COVID-19 treatments shifted online remotely. Many hospitals, specialist centres, patients and families started to use telemedicine because they were forced to. This trend could directly represent a good practice on how care services could be organized and continuity of care could be ensured for patients. If done properly, it could boast improved patient outcomes and become a post COVID-19 major shift in the care paradigm. There is a fragmented stakeholders spectrum, as many questions arise on: how is e-health interacting with 'traditional' healthcare providers; about the role of the European Reference Networks (ERNs); if remote care can retain a human touch and stay patient centric. The manuscript is one of the results of the European Brain Council (EBC) Value of Treatment research project on rare brain disorders focusing on progressive ataxias, dystonia and phenylketonuria with the support of Academic Partners and in collaboration with European Reference Networks (ERNs) experts, applying empirical evidence from different European countries. The main purpose of this work is to investigate the impact of the COVID-19 pandemic on the continuity of care for ataxias, dystonia and phenylketonuria (PKU) in Europe. The analysis carried out makes it possible to highlight the critical points encountered and to learn from the best experiences. Here, we propose a scoping review that investigates this topic, focusing on continuity of care and novel methods (e.g., digital approaches) used to reduce the care disruption. This scoping review was designed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) standards. This work showed that the implementation of telemedicine services was the main measure that healthcare providers (HCPs) put in place and adopted for mitigating the effects of disruption or discontinuity of the healthcare services of people with rare neurological diseases and with neurometabolic disorders in Europe.

摘要

在 COVID-19 大流行期间,医疗保健提供者面临的最相关挑战之一是确保有复杂健康需求的患者(如患有罕见病的患者)的医疗服务连续性。COVID-19 大流行加速了医疗保健部门的数字化转型议程。远程医疗服务的提供已经扩大,许多与 COVID-19 治疗不直接相关的医疗服务也已经转移到线上远程进行。许多医院、专科中心、患者和家庭开始使用远程医疗,因为他们被迫这样做。这种趋势可以直接代表一种良好的实践,即如何组织护理服务并确保患者的医疗服务连续性。如果做得好,它可以提高患者的治疗效果,并成为 COVID-19 后医疗护理模式的重大转变。有一个碎片化的利益相关者群体,因为出现了许多问题:电子医疗保健如何与“传统”医疗保健提供者相互作用;关于欧洲参考网络(ERNs)的作用;远程护理是否可以保留人性化关怀并以患者为中心。该手稿是欧洲脑理事会(EBC)关于罕见脑疾病治疗价值研究项目的结果之一,该项目重点关注进行性共济失调、肌张力障碍和苯丙酮尿症,得到学术合作伙伴的支持,并与欧洲参考网络(ERNs)专家合作,应用来自不同欧洲国家的经验证据。这项工作的主要目的是调查 COVID-19 大流行对欧洲进行性共济失调、肌张力障碍和苯丙酮尿症(PKU)患者医疗服务连续性的影响。所进行的分析使我们能够突出遇到的关键点,并从最佳经验中学习。在这里,我们提出了一项范围综述,旨在调查这一主题,重点关注医疗服务连续性和用于减少护理中断的新方法(例如,数字方法)。这项范围综述是根据系统评价和荟萃分析扩展的首选报告项目(PRISMA-ScR)标准设计的。这项工作表明,在欧洲,远程医疗服务的实施是医疗保健提供者(HCPs)为减轻对患有罕见神经疾病和神经代谢疾病的患者的医疗服务中断或不连续的影响而采取的主要措施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/667e2807494d/13023_2023_3005_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/4576a7051d92/13023_2023_3005_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/c4888bbc1522/13023_2023_3005_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/667e2807494d/13023_2023_3005_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/4576a7051d92/13023_2023_3005_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/c4888bbc1522/13023_2023_3005_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f78/10880288/667e2807494d/13023_2023_3005_Fig3_HTML.jpg

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本文引用的文献

[1]
Dystonia management across Europe within ERN-RND: current state and future challenges.

J Neurol. 2023-2

[2]
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era.

Mol Genet Metab Rep. 2022-7-8

[3]
Development of a patient journey map for people living with cervical dystonia.

Orphanet J Rare Dis. 2022-3-21

[4]
Phenylketonuria Patients' and Their Caregivers' Perception of the Pandemic Lockdown: The Results of a National Online Survey.

Children (Basel). 2022-1-19

[5]
2 Years into the Pandemic: What Did We Learn About the COVID-19 and Cerebellum?

Cerebellum. 2022-2

[6]
Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.

Healthcare (Basel). 2021-10-20

[7]
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.

J Clin Med. 2021-10-22

[8]
COVID-19-related anxiety in phenylketonuria patients.

Turk J Pediatr. 2021

[9]
Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.

Intern Med J. 2021-10

[10]
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.

Orphanet J Rare Dis. 2021-8-19

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