Validity and Reliability of the 32-Item Motor Function Measure in 2- to 5-Year-Olds with Neuromuscular Disorders and 2- to 25-Year-Olds with Spinal Muscular Atrophy

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.

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

Neuromuscular Disorders ◽

10.1016/j.nmd.2006.03.005 ◽

2006 ◽

Vol 16 (6) ◽

pp. 374-380 ◽

Cited By ~ 49

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

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M.P.2.08 Use of the motor function measure to assess motor function in patients with spinal muscular atrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2009.06.096 ◽

2009 ◽

Vol 19 (8-9) ◽

pp. 573 ◽

Cited By ~ 1

Author(s):

C. Vuillerot ◽

C. Payan ◽

C. Bérard

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Muscular Atrophy ◽

Function Measure

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

Child Neurology Open ◽

10.1177/2329048x18780477 ◽

2018 ◽

Vol 5 ◽

pp. 2329048X1878047 ◽

Cited By ~ 2

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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Responsiveness of the Motor Function Measure in Patients With Spinal Muscular Atrophy

Archives of Physical Medicine and Rehabilitation ◽

10.1016/j.apmr.2013.01.014 ◽

2013 ◽

Vol 94 (8) ◽

pp. 1555-1561 ◽

Cited By ~ 41

Author(s):

Carole Vuillerot ◽

Christine Payan ◽

Jean Iwaz ◽

René Ecochard ◽

Carole Bérard

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Muscular Atrophy ◽

Function Measure

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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1

Neurology ◽

10.1212/wnl.0000000000006281 ◽

2018 ◽

Vol 91 (14) ◽

pp. e1312-e1318 ◽

Cited By ~ 34

Author(s):

Karolina Aragon-Gawinska ◽

Andreea M. Seferian ◽

Aurore Daron ◽

Elena Gargaun ◽

Carole Vuillerot ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Treatment Initiation ◽

Muscular Atrophy ◽

Neuromuscular Disorders ◽

Survival Motor Neuron ◽

Spinal Muscular Atrophy Type ◽

Nutritional Data

ObjectiveTo evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1).MethodsPatients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32).ResultsWe treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene.ConclusionsOur results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease.ClinicalTrials.gov identifier:NCT02865109.Classification of evidenceThis study provides Class IV evidence that for patients with SMA1 who are older than 7 months, nusinersen is beneficial.

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Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1

Journal of Neurodevelopmental Disorders ◽

10.1186/s11689-021-09355-4 ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Grazia Zappa ◽

Antonella LoMauro ◽

Giovanni Baranello ◽

Emilia Cavallo ◽

Priscilla Corti ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Language Comprehension ◽

Muscular Atrophy ◽

Neuromuscular Disorders ◽

Stable Condition ◽

Motor Dysfunction ◽

Speech Impairment ◽

Normal Range ◽

Spinal Muscular Atrophy Type

Abstract Background Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. Methods This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3–11 years in clinical stable condition with a coded way to communicate “yes” and “no”. Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. Results SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. Conclusions Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment.

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