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通过新生儿筛查鉴定 5q 型脊髓性肌萎缩症患者的综合治疗方法和实用建议。

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.

机构信息

Newborn Screening Reference Center, Instituto Jô Clemente (IJC), São Paulo 04040-033, Brazil.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo 05403-010, Brazil.

出版信息

Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858.

DOI:10.3390/genes15070858
PMID:39062637
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11276409/
Abstract

In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis. This work addresses key considerations in implementing 5q-SMA screening within the Brazilian National Newborn Screening Program and explores Brazil's unique challenges and opportunities, including genetic tests, time-to-patient referral to specialized centers, program follow-up, and treatment algorithms. We aim to guide healthcare professionals and policymakers, facilitating global discussions, including Latin American countries, and knowledge-sharing on this critical subject to improve the care for newborns identified with 5q SMA.

摘要

近年来，5q 型脊肌萎缩症的治疗取得了重大进展，强调了早期诊断和干预对于获得更好临床结果的重要性。5q-SMA 以脊髓运动神经元变性为特征，导致肌肉无力、吞咽困难、呼吸功能不全和骨骼畸形。通过筛查和确认性遗传测试来识别有症状前阶段至关重要。这项工作解决了在巴西国家新生儿筛查计划中实施 5q-SMA 筛查的关键问题，并探讨了巴西独特的挑战和机遇，包括遗传测试、将患者转诊至专门中心的时间、计划随访和治疗算法。我们旨在为医疗保健专业人员和政策制定者提供指导，促进全球讨论，包括拉丁美洲国家，并就这一关键主题进行知识共享，以改善对被诊断为 5q-SMA 的新生儿的护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/43e2ab9e97bf/genes-15-00858-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/950d28384e06/genes-15-00858-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/78da21be79c9/genes-15-00858-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/82ad4d285de0/genes-15-00858-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/ef0690b5902a/genes-15-00858-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/c5a23a260d18/genes-15-00858-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/43e2ab9e97bf/genes-15-00858-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/950d28384e06/genes-15-00858-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/78da21be79c9/genes-15-00858-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/82ad4d285de0/genes-15-00858-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/ef0690b5902a/genes-15-00858-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/c5a23a260d18/genes-15-00858-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4015/11276409/43e2ab9e97bf/genes-15-00858-g006.jpg

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Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers.多重数字 PCR 与多重连接依赖性探针扩增定量运动神经元基因拷贝数存活率的准确性比较。
Clin Chim Acta. 2024 Jan 15;553:117708. doi: 10.1016/j.cca.2023.117708. Epub 2023 Dec 13.
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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
巴西脊髓性肌萎缩症新生儿筛查：一项试点研究。
Genet Mol Biol. 2023 Dec 11;46(3 Suppl 1):e20230126. doi: 10.1590/1678-4685-GMB-2023-0126. eCollection 2023.
4
Brazilian version of the CHOP INTEND scale: cross-cultural adaptation and validation.巴西版 CHOP INTEND 量表：跨文化调适与验证。
Arq Neuropsiquiatr. 2023 Sep;81(9):816-824. doi: 10.1055/s-0043-1772832. Epub 2023 Oct 4.
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Pilot Study on Newborn Screening for Spinal Muscular Atrophy.脊髓性肌萎缩症新生儿筛查的初步研究。
Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122955.
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High-resolution gridded population datasets for Latin America and the Caribbean using official statistics.利用官方统计数据生成拉丁美洲和加勒比地区高分辨率网格化人口数据集。
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