Abstract：
UNASSIGNED: 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.
UNASSIGNED: This study summarizes published natural history data on respiratory, swallowing, feeding, and speech functions in patients with SMA not receiving DMTs.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: This study summarizes published natural history data on respiratory, swallowing, feeding, and speech functions in patients with SMA not receiving DMTs.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■呼吸和球功能障碍（包括吞咽，喂养,和言语功能）是脊髓性肌萎缩症（SMA）的主要症状，尤其是最严重的形式。证明疾病修饰疗法（DMT）的长期疗效需要了解SMA自然史。
■这项研究总结了已发表的关于呼吸，吞咽,喂养,未接受DMT的SMA患者的语音功能。
■电子数据库(Embase，MEDLINE,和循证医学评论）从数据库开始到2022年6月27日进行搜索，以获取报告1-3型SMA中呼吸和/或球功能结局数据的研究。将数据提取到预定义的模板中，并提供了这些数据的描述性摘要。
■包括91种出版物：43种关于呼吸系统的报告数据，吞咽,喂养,和/或言语功能结果。数据强调了1型SMA患者呼吸功能的早期丧失，通常需要12个月大的通气支持。2型或3型SMA患者随着时间的推移有失去呼吸功能的风险，在生命的第一个和第五个十年之间开始通气支持。吞咽和进食困难，包括窒息，咀嚼问题,和愿望，在SMA光谱中的患者中报告。吞咽和进食困难，需要非口服营养支持，在1岁之前报告了1型SMA，在2型SMA的10岁之前。整理了与其他bulbar功能有关的有限数据。
■自然史数据表明，未经治疗的SMA患者呼吸和延髓功能恶化，与更严重的疾病相关的更快的下降。本研究提供了SMA中Bulbar功能的自然历史数据的综合存储库，它强调了对该领域结局的一致评估对于理解和批准新疗法是必要的。
■这项研究总结了已发表的关于呼吸，吞咽,喂养,未接受DMT的SMA患者的语音功能。
■电子数据库(Embase，MEDLINE,和循证医学评论）从数据库开始到2022年6月27日进行搜索，以获取报告1-3型SMA中呼吸和/或球功能结局数据的研究。将数据提取到预定义的模板中，并提供了这些数据的描述性摘要。
■包括91种出版物：43种关于呼吸系统的报告数据，吞咽,喂养,和/或言语功能结果。数据强调了1型SMA患者呼吸功能的早期丧失，通常需要12个月大的通气支持。2型或3型SMA患者随着时间的推移有失去呼吸功能的风险，在生命的第一个和第五个十年之间开始通气支持。吞咽和进食困难，包括窒息，咀嚼问题,和愿望，在SMA光谱中的患者中报告。吞咽和进食困难，需要非口服营养支持，在1岁之前报告了1型SMA，在2型SMA的10岁之前。整理了与其他bulbar功能有关的有限数据。
■自然史数据表明，未经治疗的SMA患者呼吸和延髓功能恶化，与更严重的疾病相关的更快的下降。本研究提供了SMA中Bulbar功能的自然历史数据的综合存储库，它强调了对该领域结局的一致评估对于理解和批准新疗法是必要的。
