122P A retrospective review of changes in upper limb function following spinal surgery in spinal muscular atrophy

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.029

O. Martineau , E. Milev , M. Main , M. Scoto , F. Muntoni , G. Baranello

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引用次数: 0

Abstract

In recent years, disease-modifying treatments (DMT) for Spinal Muscular Atrophy (SMA) have become readily available on the National Health Service in the UK. Although phenotypes are changing, progressive scoliosis remains common and can affect individuals' quality of life causing a negative impact on mobility, increased pain and worsened respiratory function. Corrective spinal surgery aims to reduce the curvature of the spine with the purpose to improve sitting posture and lung function. Limited data is available on the effects of scoliosis surgery on upper limb function in SMA patients. The revised upper limb module (RULM) is used to monitor changes in the arm function in the SMA cohort assessing both proximal and distal activities. The aim of this study is to review changes in upper limb function of SMA children following spinal surgery identifying possible contributing factors. A single-centre retrospective review has been completed of the current SMA cohort at Great Ormond Street Hospital (GOSH) that underwent corrective spinal surgery (posterior spinal fusion or growth rod insertion). Forty-two patients were identified; 20 were excluded due to insufficient data. Of the remaining 22 patients, 14 were female and 8 male. Nine were classified as type 3, 12 as type 2 and 1 as type 1;12/22 had started on DMT prior to surgery. Scores from 2 RULM assessments taken prior to surgery at least 6 months apart were compared with RULM results post-surgery at two 6-month intervals. Other factors were recorded including age, Cobb angle and time on DMT prior to surgery. Patients receiving DMT post-surgery were used as a control group. At the initial follow-up, 64% showed a decline in RULM score with an average change in score of-2.18. At the second follow-up, 78% had improved or maintained their score with an average score change of 0.09. Comparing the treated and untreated group, there was no significant difference in scores at the initial follow-up, while at the second follow up a significant difference was observed (p=0.018) with an average change of +1 in the DMT group compared to -1 in the untreated group. Our study shows that children with SMA treated with a DMT prior to surgery declined initially however 87% regained or maintained some upper limb function at their second follow-up. We aim to further analyse the data and present the full scope of this study including a larger group across the UK.

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122P 脊柱肌肉萎缩症患者脊柱手术后上肢功能变化的回顾性研究

近年来，脊髓性肌肉萎缩症（SMA）的改良疾病疗法（DMT）已在英国国民健康服务中普及。虽然表型正在发生变化，但进行性脊柱侧弯仍然很常见，会影响患者的生活质量，导致行动不便、疼痛加剧和呼吸功能恶化。脊柱矫正手术旨在减少脊柱弯曲，从而改善坐姿和肺功能。有关脊柱侧弯手术对 SMA 患者上肢功能影响的数据十分有限。修订后的上肢模块（RULM）用于监测 SMA 患者手臂功能的变化，评估近端和远端活动。本研究旨在回顾脊柱手术后 SMA 儿童上肢功能的变化，找出可能的诱因。大奥蒙德街医院（Great Ormond Street Hospital，GOSH）对目前接受脊柱矫正手术（脊柱后路融合术或生长棒植入术）的 SMA 患者进行了单中心回顾性研究。共确定了 42 例患者，其中 20 例因数据不足而被排除。在剩下的 22 名患者中，14 人为女性，8 人为男性。9人被归为3型，12人被归为2型，1人被归为1型；12/22的患者在手术前已开始服用DMT。将手术前至少间隔 6 个月进行的两次 RULM 评估结果与手术后两次间隔 6 个月进行的 RULM 评估结果进行比较。其他因素包括年龄、Cobb 角和手术前接受 DMT 的时间。手术后接受 DMT 治疗的患者作为对照组。在首次随访中，64%的患者 RULM 评分下降，平均分数变化为 2.18。在第二次随访时，78% 的患者的评分有所改善或保持不变，平均分数变化为 0.09。对比治疗组和未治疗组，初次随访时的得分没有显著差异，而在第二次随访时观察到了显著差异（P=0.018），DMT 组的平均得分变化为 +1，而未治疗组的平均得分变化为 -1。我们的研究表明，在手术前接受 DMT 治疗的 SMA 患儿最初上肢功能有所下降，但 87% 的患儿在第二次随访时恢复或保持了一定的上肢功能。我们的目标是进一步分析数据，并展示这项研究的全部内容，包括英国更大规模的群体。

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.