143P Swallowing physiology and function in untreated patients with Spinal Muscular Atrophy type 1: establishing natural history reference values

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.050

K. McGrattan , R. Graham , A. Miles , J. Allen , A. Hofelich Mohr , V. Rao , L. Alfano , L. Smith , J. Brandesma , C. Leon Astudillo , D. Levy , W. Tang , A. Brown , A. Spoden , G. Schenck , B. Darras

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引用次数: 0

Abstract

Dysphagia has been a leading source of morbidity in patients with spinal muscular atrophy type 1 (SMA 1). The paucity of investigations has impeded the ability to judge the effect of disease modifying therapies (DMT). We report a natural history dataset characterizing swallowing biomechanics and function in untreated children with SMA 1. Infants with SMA 1 who had not received DMT and underwent a videofluoroscopic swallow study (VFSS) were retrospectively identified from 13 international children's hospitals. Charts were reviewed for oral intake and secretion management. VFSS’ were prospectively evaluated for biomechanics. Differences in swallowing between patients referred for VFSS due to swallowing concerns vs. those referred as part of a routine high-risk referral were tested using paired t-tests. Of the 77 children included, 30% of required suctioning, and 39% received alternative nutrition. Profound deficits were observed in sucking, with the inability to extract a bolus in 25% of children. Impairments in bolus clearance were common, with severe reductions in tongue base retraction (49%), absent pharyngeal stripping wave (23%), and minimal to no upper esophageal segment opening (50%) resulting in a majority-no clearance of the bolus from the pharynx in 40% of children. Pharyngeal constriction ratio (0.41 ± 0.28) and upper esophageal segment opening (0.12 ± 0.09) were consistent with these results. More than trace aspiration (56%) on >1 occurrence was seen in 52% of children. Deficits were significant worse in patients referred due to symptoms than asymptomatic (p < 0.05). Without pharmaceuticals patients with type 1 SMA exhibit profound deficits in swallowing. Although the presence of clinical signs of swallowing impairment may identify those children with the most profound deficits, they are not reliable for identifying a magnitude of other clinically significant impairments.

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143P 未经治疗的 1 型脊髓性肌肉萎缩症患者的吞咽生理和功能：建立自然史参考值

吞咽困难一直是1型脊髓性肌萎缩症（SMA 1）患者的主要发病原因。由于缺乏调查，因此无法判断疾病调整疗法（DMT）的效果。我们报告了一个自然病史数据集，该数据集描述了未经治疗的 SMA 1 型患儿的吞咽生物力学和功能。我们从 13 家国际儿童医院中回顾性地找出了未接受过 DMT 并接受过视频荧光屏吞咽研究 (VFSS) 的 SMA 1 型婴儿。审查了口腔摄入和分泌物管理的病历。对 VFSS 的生物力学进行了前瞻性评估。使用配对 t 检验法检验了因吞咽问题而转诊至 VFSS 的患者与常规高风险转诊患者在吞咽方面的差异。在纳入的 77 名儿童中，30% 需要吸痰，39% 需要接受替代营养。吸吮能力严重不足，25% 的患儿无法吸出栓子。由于舌根后缩（49%）严重减弱、咽部剥离波消失（23%）以及食管上段开口极小甚至没有（50%），导致 40% 的患儿无法从咽部清除大部分栓子。咽部收缩比（0.41 ± 0.28）和食管上段开口率（0.12 ± 0.09）与上述结果一致。52%的患儿在 1 次吸入时出现超过微量吸入（56%）。因症状而转诊的患者比无症状患者的缺陷明显更严重（p <0.05）。如果不服用药物，1 型 SMA 患者会表现出严重的吞咽障碍。虽然存在吞咽障碍的临床表现可以确定哪些儿童存在最严重的吞咽障碍，但这些临床表现并不能可靠地确定其他临床重大障碍的程度。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.