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数字工具在罕见神经系统疾病中的应用:迈向新型护理模式的叙述性综述。

The use of digital tools in rare neurological diseases towards a new care model: a narrative review.

机构信息

Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy.

Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

出版信息

Neurol Sci. 2024 Oct;45(10):4657-4668. doi: 10.1007/s10072-024-07631-4. Epub 2024 Jun 10.


DOI:10.1007/s10072-024-07631-4
PMID:38856822
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11422437/
Abstract

Rare neurological diseases as a whole share peculiar features as motor and/or cognitive impairment, an elevated disability burden, a frequently chronic course and, in present times, scarcity of therapeutic options. The rarity of those conditions hampers both the identification of significant prognostic outcome measures, and the development of novel therapeutic approaches and clinical trials. Collection of objective clinical data through digital devices can support diagnosis, care, and therapeutic research. We provide an overview on recent developments in the field of digital tools applied to rare neurological diseases, both in the care setting and as providers of outcome measures in clinical trials in a representative subgroup of conditions, including ataxias, hereditary spastic paraplegias, motoneuron diseases and myopathies.

摘要

罕见神经疾病整体具有一些共同特征,包括运动和/或认知障碍、较高的残疾负担、常呈慢性病程,且目前治疗选择有限。这些疾病的罕见性既妨碍了重要预后指标的识别,也妨碍了新治疗方法和临床试验的发展。通过数字设备收集客观临床数据可以支持诊断、护理和治疗研究。我们概述了应用于罕见神经疾病领域的数字工具的最新进展,包括在护理环境中的应用,以及作为临床试验中代表性亚组疾病(包括共济失调、遗传性痉挛性截瘫、运动神经元疾病和肌病)的预后指标的应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a79/11422437/683b2d13cea9/10072_2024_7631_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a79/11422437/683b2d13cea9/10072_2024_7631_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a79/11422437/683b2d13cea9/10072_2024_7631_Fig1_HTML.jpg

相似文献

[1]
The use of digital tools in rare neurological diseases towards a new care model: a narrative review.

Neurol Sci. 2024-10

[2]
Rare neurological diseases: a practical approach to management.

Pract Neurol. 2013-8

[3]
Rare neurological diseases: a united approach is needed.

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[4]
Multiomics tools for the diagnosis and treatment of rare neurological disease.

J Inherit Metab Dis. 2018-3-13

[5]
[Have centers of rare neurological diseases changed their practices and management of the hereditary cerebellar ataxias?].

Rev Neurol (Paris). 2013-2

[6]
[Ataxias and hereditary spastic paraplegias].

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[7]
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Arch Dis Child Educ Pract Ed. 2016-8

[8]
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[9]
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

Neurol Sci. 2024-3

[10]
Efficient design and analysis of randomized controlled trials in rare neurological diseases: An example in Guillain-Barré syndrome.

PLoS One. 2019-2-20

引用本文的文献

[1]
Eye Tracking during Passage Reading Supports Precise Oculomotor Assessment in Ataxias.

medRxiv. 2025-1-17

本文引用的文献

[1]
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.

Acta Myol. 2023

[2]
Effectiveness of a 5-Week Virtual Reality Telerehabilitation Program for Children With Duchenne and Becker Muscular Dystrophy: Prospective Quasi-Experimental Study.

JMIR Serious Games. 2023-11-15

[3]
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.

Cerebellum. 2024-8

[4]
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite.

Neuromuscul Disord. 2023-11

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Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System.

Cerebellum. 2024-6

[6]
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Orphanet J Rare Dis. 2023-8-29

[7]
At-home wearables and machine learning sensitively capture disease progression in amyotrophic lateral sclerosis.

Nat Commun. 2023-8-21

[8]
Gait asymmetry in children with Duchenne muscular dystrophy: evaluated through kinematic synergies and muscle synergies of lower limbs.

Biomed Eng Online. 2023-7-31

[9]
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NPJ Digit Med. 2023-3-16

[10]
Wearable device and smartphone data quantify ALS progression and may provide novel outcome measures.

NPJ Digit Med. 2023-3-6

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