脊髓性肌肉萎缩症（SMA）患者呼吸、吞咽、进食和语言功能自然史的系统性文献综述。

IF 3.2 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI:10.3233/JND-230248

Yasmina Martí, Valerie Aponte Ribero, Sarah Batson, Stephen Mitchell, Ksenija Gorni, Nicole Gusset, Maryam Oskoui, Laurent Servais, Nicolas Deconinck, Katlyn Elizabeth McGrattan, Eugenio Mercuri, C Simone Sutherland

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引用次数: 0

摘要

背景：呼吸和球部功能障碍（包括吞咽、进食和语言功能）是脊髓性肌萎缩症（SMA）的主要症状，尤其是最严重的脊髓性肌萎缩症。要证明疾病改变疗法（DMT）的长期疗效，就必须了解 SMA 的自然病史：本研究总结了已发表的未接受 DMTs 的 SMA 患者的呼吸、吞咽、进食和语言功能的自然病史数据：检索电子数据库（Embase、MEDLINE 和 Evidence-Based Medicine Reviews），检索时间从数据库建立之初至 2022 年 6 月 27 日，检索报告 1-3 型 SMA 呼吸和/或球部功能结果的研究数据。数据被提取到预定义的模板中，并提供了这些数据的描述性摘要：结果：共纳入 91 篇文献：结果：共纳入 91 篇文献：43 篇文献报告了呼吸、吞咽、喂养和/或语言功能结果的数据。数据显示，1 型 SMA 患者很早就丧失了呼吸功能，通常在 12 个月大时就需要呼吸机支持。2 型或 3 型 SMA 患者的呼吸功能有可能随着时间的推移而逐渐丧失，在患者出生后的第一至第五个十年期间需要呼吸机支持。据报道，在所有 SMA 患者中都存在吞咽和进食困难，包括窒息、咀嚼问题和吸入。据报道，1 型 SMA 患者在 1 岁前出现吞咽和进食困难，需要非口营养支持，而 2 型 SMA 患者在 10 岁前出现吞咽和进食困难。有关其他球部功能的数据有限：自然病史数据表明，未经治疗的 SMA 患者会出现呼吸和球部功能衰退，疾病严重程度越高，衰退速度越快。这项研究提供了有关 SMA 中枢神经系统功能自然病史的全面数据，并强调有必要对这一领域的结果进行持续评估，以促进对新疗法的理解和批准。

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A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).

Background: Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most severe forms. Demonstrating the long-term efficacy of disease-modifying therapies (DMTs) necessitates an understanding of SMA natural history.

Objective: This study summarizes published natural history data on respiratory, swallowing, feeding, and speech functions in patients with SMA not receiving DMTs.

Methods: Electronic databases (Embase, MEDLINE, and Evidence-Based Medicine Reviews) were searched from database inception to June 27, 2022, for studies reporting data on respiratory and/or bulbar function outcomes in Types 1-3 SMA. Data were extracted into a predefined template and a descriptive summary of these data was provided.

Results: Ninety-one publications were included: 43 reported data on respiratory, swallowing, feeding, and/or speech function outcomes. Data highlighted early loss of respiratory function for patients with Type 1 SMA, with ventilatory support typically required by 12 months of age. Patients with Type 2 or 3 SMA were at risk of losing respiratory function over time, with ventilatory support initiated between the first and fifth decades of life. Swallowing and feeding difficulties, including choking, chewing problems, and aspiration, were reported in patients across the SMA spectrum. Swallowing and feeding difficulties, and a need for non-oral nutritional support, were reported before 1 year of age in Type 1 SMA, and before 10 years of age in Type 2 SMA. Limited data relating to other bulbar functions were collated.

Conclusions: Natural history data demonstrate that untreated patients with SMA experience respiratory and bulbar function deterioration, with a more rapid decline associated with greater disease severity. This study provides a comprehensive repository of natural history data on bulbar function in SMA, and it highlights that consistent assessment of outcomes in this area is necessary to benefit understanding and approval of new treatments.

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来源期刊

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.