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.

scholarly journals 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

PLoS ONE ◽  
2020 ◽  
Vol 15 (9) ◽  
pp. e0238786
Author(s):  
Dylan Trundell ◽  
Stephanie Le Scouiller ◽  
Laure Le Goff ◽  
Ksenija Gorni ◽  
Carole Vuillerot
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Validity And Reliability ◽  
Type 3 ◽  
Function Measure

scholarly journals Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011051
Author(s):  
Federica Trucco ◽  
Deborah Ridout ◽  
Mariacristina Scoto ◽  
Giorgia Coratti ◽  
Marion L Main ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Paediatric Cohort ◽  
New Treatments ◽  
Type 3

Objective.To describe the respiratory trajectories and their correlation with motor function in an international paediatric cohort of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA).Methods.Eight-year retrospective observational study of patients in the iSMAc natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC% predicted (FVC%P.), Non-Invasive ventilation (NIV) requirement. Hammersmith functional motor scale (HFMS) and Revised performance of upper limb (RULM) were correlated with respiratory function. We excluded patients in interventional clinical trials and on Nusinersen commercial therapy.Results.There were 437 patients with SMA: 348 type 2, 89 non-ambulant type 3. Mean age at first visit was 6.9(±4.4) and 11.1(±4) years. In SMA type 2 FVC%P declined by 4.2%/year from 5 to 13 years, followed by a slower decline (1.0%/year). In type 3 FVC%P declined by 6.3%/year between 8 and 13 years, followed by a slower decline (0.9%/year). 39% SMA type 2 and 9% type 3 required NIV at median age 5.0(1.8-16.6) and 15.1(13.8-16.3) years. 84% SMA type 2 and 80% type 3 had scoliosis, 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM in both subtypes.Conclusions.In SMA type 2 and non-ambulant type 3 lung function declines differently, with a common levelling after age 13 years. Lung and motor function correlated in both subtypes. Our data further defines the milder SMA phenotypes and provides novel information to benchmark the long-term efficacy of new treatments for SMA.

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 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.

scholarly journals Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

2020 ◽  
Vol 30 (12) ◽  
pp. 959-969
Author(s):  
Francesco Muntoni ◽  
Enrico Bertini ◽  
Giacomo Comi ◽  
Janbernd Kirschner ◽  
Anna Lusakowska ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Long Term Follow Up ◽  
Type 3

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.

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