A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs

被引：9

作者：

Edel, L. ^{[1
]}

Grime, C. ^{[1
]}

Robinson, V ^{[1
]}

Abel, F. ^{[1
]}

Ridout, D. ^{[1
]}

Scoto, M. ^{[1
,2
]}

Muntoni, F. ^{[1
,2
,3
]}

Chan, E. ^{[1
]}

机构：

[1] Great Ormond St Hosp Children NHS Fdn Trust, Resp Physiotherapy, Great Ormond St, London WC1N 3JH, England

[2] UCL, Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, 30 Guilford St, London WC1N 1EH, England

[3] NIHR Great Ormond St Hosp, Biomed Res Ctr, London, England

来源：

NEUROMUSCULAR DISORDERS | 2021年 / 31卷 / 04期

关键词：

Spinal muscular atrophy; Respiratory function; Scoring system; outcomes; Nusinersen; AIRWAY CLEARANCE TECHNIQUES; NEUROMUSCULAR DISORDERS; MANAGEMENT; DIAGNOSIS; CARE;

D O I：

10.1016/j.nmd.2021.01.008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Nusinersen (NUS), the first treatment approved for Spinal Muscular Atrophy type 1 (SMA1), was made available in the UK for SMA1 through the Expanded Access Program (EAP) in 2017. The Great Ormond Street Respiratory (GSR) score was developed as an objective respiratory assessment for children with SMA1 during their treatment. Aims: Track respiratory status of SMA1 children over the course of Nusinersen treatment and compare GSR scores amongst SMA1 sub-types. Single centre study on SMA1 patients using the GSR score at set time points: prior to first NUS dose; 2 weeks post end of loading doses; 2 weeks post-subsequent doses. GSR score ranges 1-28, being 1-9 = Stable minimal support, thorough to 23-28 = Poor reserve with maximum support. 20 SMA1 children underwent NUS treatment between January 2017 - November 2018. Median age of diagnosis was 5.0 months. NUS started at median of 9.57 months. From 5th dose onwards, GSR scores were significantly lower for Type 1C patients compared to Type 1B By month 18, irrespective of subtypes, the whole cohort appears to stabilise GSR Scores. As treatment duration increases, an overall stabilisation of respiratory status across the cohort was observed. Further longitudinal studies are needed to validate the GSR. (c) 2021 Elsevier B.V. All rights reserved.

引用

页码：300 / 309

页数：10

共 32 条

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