Association Between Gross Motor Functions and Upper Limb Functions in Indian Children with Spinal Muscular Atrophy
Abstract
Objective: A progressive neuromuscular disease called Spinal Muscular Atrophy (SMA) is characterized by anterior horn cell degeneration, which leads to proximal muscle weakening and compromised motor function. Although upper limb and gross motor skills are frequently impacted, little is known about how these functions interact in the paediatric population of India. The objective of this study was to investigate the relationship between gross motor functions and upper limb functions in Indian children with Spinal Muscular Atrophy.
Material and Methods: Indian children with SMA Types II and III, ages 2 to 18, participated in the cross-sectional study. The Hammersmith Functional Motor Scale Expanded (HFMSE) was used to measure gross motor function, and the Revised Upper Limb Module (RULM) kit was used to evaluate upper limb function. Pearson’s correlation test was used to assess the relationship between gross motor and upper limb scores.
Results: A total of 22 participants (mean age: 8.84±5.31; 77% male) were included. A significant positive correlation was found between HFMSE and RULM scores (r=0.579 and p-value=0.005), indicating that higher gross motor functions are associated with higher upper limb functions. The strength of association varied with SMA type and ambulatory status.
Conclusion: In Indian children with SMA, there is a strong association between gross motor functions and upper limb functions. This suggests that both domains should be taken into account in assessment and rehabilitation plans to improve functional status and quality of life in children with SMA. A limitation that can be considered in future studies is to gather data from different regions of India.
Keywords
Full Text:
PDFReferences
Wirth B. Spinal muscular atrophy: in the challenge lies a solution. Trends Neurosci 2021;44:306-22.
Yeo CJJ, Darras BT. Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease. Pediatr Neurol 2020;109:12-9.
Munsat TL, Skerry L, Korf B, Pober B, Schapira X, Gascon GG, et al. Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q). Neurology 1990;40:1831.
Qiao Y, Chi Y, Gu J, Ma Y. Safety and efficacy of nusinersen and risdiplam for spinal muscular atrophy: a systematic review and meta-analysis of randomized controlled trials. Brain Sci 2023;13:1419.
Pera MC, Coratti G, Forcina N, Mazzone S, Scoto M, Montes J, et al. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol 2017;17:1-10.
Montes J, Gordon AM, Pandya S, De Vivo DC, Kaufmann P. Clinical outcome measures in spinal muscular atrophy. J Child Neurol 2009;24:968-78.
Coratti G, Lucibello S, Pera MC, Duong T, Lofra MR, Civitello M, et al. Gain and loss of abilities in type II SMA: a 12-month natural history study. Neuromuscul Disord 2020;30:765-71.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28:103-15. doi: 10.1016/j.nmd.2017.11.005.
Pierzchlewicz K, Kępa I, Podogrodzki J, Kotulska K. Spinal muscular atrophy: the use of functional motor scales in the era of disease-modifying treatment. Child Neurol Open 2021;8:2329048X211008725.
O’Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, et al. An expanded version of the hammersmith functional motor scale for SMA II and III patients. Neuromuscul Disord 2007;17:693-7.
Reilly A, Chehade L, Kothary R. Curing SMA: Are we there yet? Gene Ther 2023;30:8-17. doi: 10.1038/s41434-022-00349-y.
Bieniaszewska A, Sobieska M, Steinborn B, Gajewska E. Examination of upper limb function and the relationship with gross motor functional and structural parameters in patients with spinal muscular atrophy. Biomedicines 2023;11:1005.
Montes J, Yong J, Babrowicz J. Awareness and utilization of the hammersmith functional motor scale–expanded (HFMSE): a survey. Neuromuscul Disord 2016;26:S103-4.
Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Mercuri E. Validation of the revised hammersmith functional motor scale in spinal muscular atrophy. J Child Neurol 2019;34:454-60. doi: 10.1177/0883073819840448.
Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, et al. Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve 2017;55:869-74.
Peacock M, Mayhew A, Mazzone ES, Montes J, Ramsey D, De Sanctis R, et al. Reliability and validity of the revised upper limb module (RULM) in spinal muscular atrophy patients across a wide range of functional abilities. Muscle Nerve 2020;62:350-6. doi: 10.1002/mus.26905.
Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997;146:67-72. doi: 10.1016/S0022-510X(96)00284-5.
Annoussamy M, Seferian AM, Daron A, Cances Y, Vuillerot C, De Waele L, Laugel V, et al. Natural history of type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Ann Clin Transl Neurol 2021;8:359–73.
Wadman RI, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijnagaarde CA, Braun KPJ, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4. J NeurolNeurosurg Psychiatry 2017;88:365-7.
Sproule DM, Hasnain R, Koenigsberger D, Montgomery M, De Vivo DC, Kaufmann P. Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2. J Child Neurol 2012;27:845-51.
Wadman RI, Vrancken AFJE, Van Den Berg LH, Van Der Pol WL. Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3. Neurology 2012;79:2050-5.
Iannaccone ST. Spinal muscular atrophy. Semin Neurol 1998; 18:19-26.
Farrar MA, Vucic S, Johnston HM, du Sart D, Kiernan MC. Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatr 2013;162:155-9.
D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis 2011;6:1-10.
Sun J, Harrington MA, Porter B, A TNGRN for SM. Sex difference in spinal muscular atrophy patients–are males more vulnerable? J Neuromuscul Dis 2023;10:847-67.
Chabanon A, Seferian AM, Daron A, Pareon Y, Cances C, Vuillerot C, Waele De L, et al. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One 2018;13:e0201004.
Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79:1889-97.
Coratti G, Pane M, Lucibello S, Pera MC, Pasternak A, Montes J, et al. Age related treatment effect in type II spinal muscular atrophy pediatric patients treated with nusinersen. Neuromuscular Disorders 2021;31:596-602.
Montes J, Yong J, Babrowicz J. Awareness and utilization of the hammersmith functional motor scale–expanded (HFMSE): a survey. Neuromuscul Disord 2016;26:S103-4.
Glanzman AM, O’Hagen JM, McDermott MP, Martens WB Flickinger J, Riley S, Quigley Jet. Validation of the expanded hammersmith functional motor scale in spinal muscular atrophy type II and III. J Child Neurol 2011;26:1499-507.
NeurologyLive. Phase 3b SMART study findings complement real-world evidence for Onasemnogeneabeparvovec in SMA. [homepage on the Internet]. Cranbury (NJ): NeurologyLive; 2021 [cited 2026 Mar 20]. Available from: https://www.neurologylive.com/view/phase-3b-smart-study-findings-complement-real-world-evidence-Onasemnogeneabeparvovec-sma
Bryson S. Nusinersen treatment improves motor function in nonambulatory SMA. [homepage on the Internet]. Ensacola (FL): SMA News Today; 2024. [cited 2026 Mar 20]. Available from: https://smanewstoday.com/news/Nusinersen-treatment-improves-motor-function-nonambulatory-sma/
Refbacks
- There are currently no refbacks.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.