Research progress on motor function assessments and their clinical applications in spinal muscular atrophy

ZHOU Chun-ming; CHEN Tu-rong; CHEN Yi; CAO Jian-guo

doi:10.11852/zgetbjzz2021-0558

PDF(526 KB)

Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (7) : 741-745. DOI: 10.11852/zgetbjzz2021-0558

Review

Research progress on motor function assessments and their clinical applications in spinal muscular atrophy

ZHOU Chun-ming, CHEN Tu-rong, CHEN Yi, CAO Jian-guo

Author information +

History +

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease mainly characterized by progressive muscle weakness and atrophy.SMA has a large number of subtypes and a wide range of motor functions involved.Currently, the assessment of motor function for SMA mainly includes muscle strength, walking ability and mobility, but no consensus has been reached.This review aims to provide a brief overview of current assessment tools related to motor function commonly used in SMA patients

Key words

spinal muscular atrophy / motor function / assessment / review

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

ZHOU Chun-ming, CHEN Tu-rong, CHEN Yi, CAO Jian-guo. Research progress on motor function assessments and their clinical applications in spinal muscular atrophy[J]. Chinese Journal of Child Health Care. 2022, 30(7): 741-745 https://doi.org/10.11852/zgetbjzz2021-0558

References

[1] 北京医学会罕见病分会, 北京医学会医学遗传学分会, 北京医学会神经病学分会神经肌肉病学组, 等.脊髓性肌萎缩症多学科管理专家共识[J].中华医学杂志, 2019,99(19):1460-1467.
[2] Mercuri E, Finkel RS, Muntoni F, et al.Diagnosis and management of spinal muscular atrophy:Part 1:Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care[J].Neuromuscul Disord, 2018,28(2):103-115.
[3] Schorling DC, Pechmann A, Kirschner J.Advances in treatment of spinal muscular atrophy-new phenotypes, new challenges, new implications for care[J].J Neuromuscul Dis, 2020,7(1):1-13.
[4] 黄美欢, 曹建国, 韩春锡, 等.脊髓性肌萎缩症的诊断及多学科综合管理进展[J].中华物理医学与康复杂志, 2020,42(7):665-670.
[5] Wadman RI, Wijngaarde CA, Stam M, et al.Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4[J].Eur J Neurol, 2018,25(3):512-518.
[6] Wijngaarde CA, Stam M, Otto L, et al.Muscle strength and motor function in adolescents and adults with spinal muscular atrophy[J].Neurology, 2020,95(14):e1988-e1998.
[7] Febrer A, Rodriguez N, Alias L, et al.Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy[J].J Rehabil Med, 2010,42(3):228-231.
[8] Wel BD, Goosens V, Sobota A, et al.Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4[J].J Neurol, 2021,268(3):923-935.
[9] Werlauff U, Fynbo SB.The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type Ⅱ[J].Disabil Rehabil, 2014,36(25):2120-2126.
[10] Dunaway YS, Montes J, Kramer SS, et al.Six-minute walk test is reliable and valid in spinal muscular atrophy[J].Muscle Nerve, 2016,54(5):836-842.
[11] Goodwin AM, Cornett K, McKay MJ, et al.Limitations of 6-minute walk test reference values for spinal muscular atrophy[J].Muscle Nerve, 2020,61(3):375-382.
[12] Montes J, McDermott MP, Mirek E, et al.Ambulatory function in spinal muscular atrophy:Age-related patterns of progression[J].PLoS One, 2018,13(6):e199657.
[13] Mazzone E, Bianco F, Main M, et al.Six minute walk test in type Ⅲ spinal muscular atrophy:A 12month longitudinal study[J].Neuromuscul Disord, 2013,23(8):624-628.
[14] Andersen LK, Knak KL, Witting N, et al.Two-and 6-minute walk tests assess walking capability equally in neuromuscular diseases[J].Neurology, 2016,86(5):442-445.
[15] Witherspoon JW, Vasavada R, Logaraj RH, et al.Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease:Is the 2-minute walk test an effective alternative to a 6-minute walk test?[J].Eur J Paediatr Neurol, 2019,23(1):165-170.
[16] Vill K, Ille L, Schroeder SA, et al.Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy:Is more time more information?[J].Eur J Paediatr Neurol, 2015,19(6):640-646.
[17] Dunaway S, Montes J, Garber CE, et al.Performance of the timed "up & go" test in spinal muscular atrophy[J].Muscle Nerve, 2014,50(2):273-277.
[18] Pereira AC, Ribeiro MG, Araujo AP.Timed motor function tests capacity in healthy children[J].Arch Dis Child, 2016,101(2):147-151.
[19] 陈土容, 黄美欢, 曹建国.神经肌肉病运动功能评估量表的应用进展[J].中国康复理论与实践, 2018,24(9):1043-1047.
[20] Main M, Kairon H, Mercuri E, et al.The Hammersmith Functional Motor Scale for children with spinal muscular atrophy:A scale to test ability and monitor progress in children with limited ambulation[J].Eur J Paediatr Neurol, 2003,7(4):155-159.
[21] O'Hagen JM, Glanzman AM, McDermott MP, et al.An expanded version of the Hammersmith Functional Motor Scale for SMA Ⅱ and Ⅲ patients[J].Neuromuscul Disord, 2007,17(9-10):693-697.
[22] Glanzman AM, O'Hagen JM, McDermott MP, et al.Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type Ⅱ and Ⅲ[J].J Child Neurol, 2011,26(12):1499-1507.
[23] Mercuri E, Lucibello S, Pera MC, et al.Long-term progression in type Ⅱ spinal muscular atrophy:A retrospective observational study[J].Neurology, 2019,93(13):e1241-e1247.
[24] Mercuri E, Darras BT, Chiriboga CA, et al.Nusinersen versus Sham control in later-onset spinal muscular atrophy[J].N Engl J Med, 2018,378(7):625-635.
[25] Pera MC, Coratti G, Forcina N, et al.Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy[J].BMC Neurol, 2017,17(1):39.
[26] Ramsey D, Scoto M, Mayhew A, et al.Revised Hammersmith Scale for spinal muscular atrophy:A SMA specific clinical outcome assessment tool[J].PLoS One, 2017,12(2):e172346.
[27] Berard C, Payan C, Fermanian J, et al.A motor function measurement scale for neuromuscular diseases-description and validation study[J].Rev Neurol (Paris), 2006,162(4):485-493.
[28] Trundell D, Le Scouiller S, Le Goff L, et al.Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy[J].PLoS One, 2020,15(9):e238786.
[29] Huang M, Cao J, Sun J, et al.Cross-cultural Adaptation and Multi-centric Validation of the Motor Function Measure Chinese Version (MFM-32-CN) for Patients with Neuromuscular Diseases[J].Dev Neurorehabil, 2020,23(4):210-217.
[30] De Lattre C, Payan C, Vuillerot C, et al.Motor function measure:validation of a short form for young children with neuromuscular diseases[J].Arch Phys Med Rehabil, 2013,94(11):2218-2226.
[31] Mazzone E, De Sanctis R, Fanelli L, et al.Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients[J].Neuromuscul Disord, 2014,24(4):347-352.
[32] Glanzman AM, Mazzone E, Main M, et al.The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND):Test development and reliability[J].Neuromuscul Disord, 2010,20(3):155-161.
[33] Finkel RS, Hynan LS, Glanzman AM, et al.The test of infant motor performance:Reliability in spinal muscular atrophy type Ⅰ[J].Pediatr Phys Ther, 2008,20(3):242-246.
[34] De Sanctis R, Pane M, Coratti G, et al.Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy[J].Neuromuscul Disord, 2018,28(1):24-28.
[35] Dabbous O, Maru B, Jansen JP, et al.Survival, motor function, and motor milestones:Comparison of avxs-101 relative to nusinersen for the treatment of infants with spinal muscular atrophy type 1[J].Adv Ther, 2019,36(5):1164-1176.
[36] Aragon-Gawinska K, Daron A, Ulinici A, et al.Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen[J].Dev Med Child Neurol, 2020,62(3):310-314.
[37] Wadman RI, Van Der Pol WL, Bosboom WM, et al.Drug treatment for spinal muscular atrophy type I[J].Cochrane Database Syst Rev, 2019,12:D6281.
[38] 陈土容, 曹建国.Hammersmith婴儿神经检查的临床应用进展[J].中华实用儿科临床杂志, 2019(15):1193-1195.
[39] Haataja L, Mercuri E, Regev R, et al.Optimality score for the neurologic examination of the infant at 12 and 18 months of age[J].J Pediatr, 1999,135(2 Pt 1):153-161.
[40] Bishop KM, Montes J, Finkel RS.Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2:Experience from a nusinersen clinical study[J].Muscle Nerve, 2018,57(1):142-146.
[41] De Sanctis R, Coratti G, Pasternak A, et al.Developmental milestones in type Ⅰ spinal muscular atrophy[J].Neuromuscul Disord, 2016,26(11):754-759.
[42] Krosschell KJ, Maczulski JA, Scott C, et al.Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type Ⅰ[J].Pediatr Phys Ther, 2013,25(2):140-148, 149.
[43] Kolb SJ, Coffey CS, Yankey JW, et al.Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study[J].Ann Clin Transl Neurol, 2016,3(2):132-145.
[44] Krosschell KJ, Bosch M, Nelson L, et al.Motor Function Test Reliability during the neuronext spinal muscular atrophy infant biomarker study[J].J Neuromuscul Dis, 2018,5(4):509-521.
[45] Mazzone E, Bianco F, Martinelli D, et al.Assessing upper limb function in nonambulant SMA patients:Development of a new module[J].Neuromuscul Disord, 2011,21(6):406-412.
[46] Mazzone ES, Mayhew A, Montes J, et al.Revised upper limb module for spinal muscular atrophy:Development of a new module[J].Muscle Nerve, 2017,55(6):869-874.
[47] Szabo L, Gergely A, Jakus R, et al.Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy:Real world data from Hungarian patients[J].Eur J Paediatr Neurol, 2020,27:37-42.