scholarly journals Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1039
Author(s):  
Minsu Gu ◽  
Hyun-Ho Kong
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Daily Living ◽  
Muscular Atrophy ◽  
Case Series ◽  
Manual Dexterity ◽  
Gross Motor ◽  
Spinal Muscular Atrophy Type ◽  
Gross Motor Function

Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity. The present study aimed to investigate the ability of nusinersen to improve fine manual dexterity in patients with SMA type 2. A total of five patients with SMA type 2 were included. The Hammersmith Functional Motor Scale (expanded version) (HFMSE) and Purdue Pegboard (PP) tests were used to evaluate gross motor function and fine manual dexterity, respectively, until 18 months after nusinersen administration. HFMSE scores improved by 3–10 points (+13–53%) in all patients following nusinersen administration. PP scores also improved in all patients, from 4 to 9 points (+80–225%) in the preferred hand and from 3 to 7 points (+60–500%) in the non-preferred hand. These results suggest that nusinersen treatment improved both gross motor function and fine manual dexterity in children with SMA type 2. Addition of the PP test may aid in evaluating the fine manual dexterity essential for activities of daily living in these patients.

The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy

2006 ◽  
Vol 16 (6) ◽  
pp. 374-380 ◽  
Author(s):  
Leslie Nelson ◽  
Hollis Owens ◽  
Linda S. Hynan ◽  
Susan T. Iannaccone ◽  
AmSMART Group
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Outcome Measure ◽  
Muscular Atrophy ◽  
Gross Motor ◽  
Gross Motor Function ◽  
Gross Motor Function Measure ◽  
Function Measure

scholarly journals Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy

2018 ◽  
Vol 5 ◽  
pp. 2329048X1878047 ◽  
Author(s):  
Christina Stark ◽  
Ibrahim Duran ◽  
Sebahattin Cirak ◽  
Stefanie Hamacher ◽  
Heike-Katharina Hoyer-Kuhn ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Functional Mobility ◽  
Whole Body ◽  
Gross Motor ◽  
Gross Motor Function ◽  
Home Based ◽  
Gross Motor Function Measure ◽  
Function Measure

The aim of this study was to determine the effect of a new method of vibration-assisted neuromuscular rehabilitation in patients with spinal muscular atrophy types II and III. In this retrospective observational study, 38 children (mean age: 4.64 ± 1.95 years) were analyzed. The physiotherapy program, Auf die Beine, combines 6 months of home-based side-alternating whole-body vibration with interval blocks of intensive, goal-directed rehabilitation: 13 days at the start and 6 days after 3 months. Assessments were applied at the beginning (M0), after 6 months of home-based training (M6), and after 6 months of follow-up (M12). Motor abilities were assessed by the Gross Motor Function Measure 66 and Hammersmith Functional Mobility Scale. The Gross Motor Function Measure showed an increase of 1.69 (3.73) points ( P = .124) and the Hammersmith Functional Mobility Scale a significant increase of 2.73 ± 1.79 points ( P = .007) after 12 months; however, whether this leads to a long-term clinical benefit requires further investigation.

scholarly journals Different trajectories in upper limb and gross motor function in spinal muscular atrophy

2021 ◽  
Author(s):  
Giorgia Coratti ◽  
Maria Carmela Pera ◽  
Jacqueline Montes ◽  
Amy Pasternak ◽  
Mariacristina Scoto ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Upper Limb ◽  
Muscular Atrophy ◽  
Gross Motor ◽  
Gross Motor Function

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

2020 ◽  
Vol 91 (11) ◽  
pp. 1166-1174 ◽  
Author(s):  
Lorenzo Maggi ◽  
Luca Bello ◽  
Silvia Bonanno ◽  
Alessandra Govoni ◽  
Claudia Caponnetto ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Rating Scale ◽  
Muscular Atrophy ◽  
Inclusion Criteria ◽  
Safety And Efficacy ◽  
Spinal Muscular Atrophy Type ◽  
Adult Age ◽  
Median Change

ObjectiveTo retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).MethodsInclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).ResultsWe included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18–72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, p<0.0001), T10 (+2, p<0.0001) and T14 (+3, p<0.0001). HFMSE changes were independently significant in SMA3 sitter and walker subgroups. The Revised Upper Limb Module (RULM) in SMA3 significantly improved between T0 and T14 (median +0.5, p=0.012), with most of the benefit observed in sitters (+2, p=0.018). Conversely, patients with SMA2 had no significant changes of median HFMSE and RULM between T0 and the following time points, although a trend for improvement of RULM was observed in those with some residual baseline function. The rate of patients showing clinically meaningful improvements (as defined during clinical trials) increased from 53% to 69% from T6 to T14.ConclusionsOur data provide further evidence of nusinersen safety and efficacy in adult SMA2 and SMA3, with the latter appearing to be cumulative over time. In patients with extremely advanced disease, effects on residual motor function are less clear.

scholarly journals Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tina Duong ◽  
Jessica Braid ◽  
Hannah Staunton ◽  
Aurelie Barriere ◽  
Fani Petridis ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Online Survey ◽  
Muscular Atrophy ◽  
Qualitative Interviews ◽  
Functional Abilities ◽  
Type 3 ◽  
The Relationship ◽  
Function Measure

Abstract Background The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-part study explored the relationship between the functional abilities assessed in the MFM32 and activities of daily living (ADLs) from the perspective of individuals with Type 2 and Type 3 (non-ambulant and ambulant) SMA and their caregivers through qualitative interviews and a quantitative online survey. Methods In-depth, semi-structured, qualitative interviews were conducted with individuals with SMA and caregivers from the US. Subsequently, a quantitative online survey was completed by individuals with SMA or their caregivers from France, Germany, Italy, Poland, Spain, Canada, the United States (US) and the UK. In both parts of the study, participants were asked to describe the ADLs considered to be related to the functional abilities assessed in the MFM32. Results from the qualitative interviews informed the content of the quantitative online survey. Results Qualitative interviews were conducted with 15 adult participants, and 217 participants completed the quantitative online survey. From the qualitative interviews, all of the functional abilities assessed in the patient-friendly MFM32 were deemed as related to one or more ADL. The specific ADLs that participants considered related to the patient-friendly MFM32 items could be grouped into 10 key ADL domains: dressing, mobility/transferring, self-care, self-feeding, reaching, picking up and holding objects, physical activity, writing and technology use, social contact/engagement, toileting and performing work/school activities. These results were confirmed by the quantitative online survey whereby the ADLs reported to be related to each patient-friendly MFM32 item were consistent and could be grouped into the same 10 ADL domains. Conclusion This study provides in-depth evidence from the patient/caregiver perspective supporting the relevance of the patient-friendly MFM32 items to the ADLs of individuals with Type 2 and Type 3 SMA.

Sign in / Sign up

Export Citation Format

Share Document