Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Mazzone, Elena; Sanctis, Roberto De; Fanelli, Lavinia; Bianco, F.; Main, Marion; Hauwe, M. van den; Ash, M.; Vries, Rob de; Fagoaga, J; Schaefer, Karen Moore; D’Amico, Adele; Colia, Giulia; Palermo, Concetta; Scoto, Mariacristina; Mayhew, Anna; Eagle, Michelle; Servais, Laurent; Vigo, M.; Febrer, Anna; Korinthenberg, Rudolf; Jeukens, M.; Viesser, M. de; Totoescu, A.; Voït, Thomas; Bushby, Kate; Muntoni, Francesco; Goemans, Nathalie; Bertini, Enrico; Pane, Marika; Mercuri, Eugenio

doi:10.1016/j.nmd.2014.01.003

Cited by 49 publications

(46 citation statements)

References 22 publications

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“…It is also validated in children and adults who are both ambulatory and non-ambulatory. However, Mazzone and colleagues recently noted that the HFMS and the MFM20, which is validated through a younger age group than the MFM32, may provide different information at the extreme levels of the spectrum of motor performance [37]. …”

Section: Discussionmentioning

confidence: 99%

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Meilleur

Jain²,

Hynan

et al. 2015

Neuromuscular Disorders

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Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: Collagen VI Related Myopathy (COL6-RM) and Laminin α2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RM and LAMA2-RD. In the first year, outcome measures tested included: Motor Function Measure 32 (MFM32), forced vital capacity (FVC) percent predicted sitting, myometry, goniometry, 10-meter walk, Egen Klassification 2, and PedsQL™ Generic and Neuromuscular Cores. In the second year, we added the North Star Ambulatory Assessment (NSAA), Hammersmith Functional Motor Scale (HFMS), timed functional tests, Measure of Activity Limitations (ACTIVLIM), Quality of Upper Extremity Skills Test (QUEST), and Patient-Reported Outcomes Measurement Information System (PROMIS) fatigue subscale. The MFM32 showed strong inter-rater (0.92) and internal consistency (0.96) reliabilities. Concurrent validity for the MFM32 was supported by large correlations (range 0.623–0.936) with the following: FVC, NSAA, HFMS, timed functional tests, ACTIVLIM, and QUEST. Significant correlations of the MFM32 were also found with select myometry measurements, mainly of the proximal extremities and domains of the PedsQL™ scales focusing on physical health and neuromuscular disease. Goniometry measurements were less reliable. The Motor Function Measure is reliable and valid in the two specific subtypes of CMD evaluated, COL6-RM and LAMA2-RD. The NSAA is useful as a complementary outcome measure in ambulatory individuals. Preliminary concurrent validity of several other clinical outcome measures was also demonstrated for these subtypes.

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Section: Discussionmentioning

confidence: 99%

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Meilleur

Jain²,

Hynan

et al. 2015

Neuromuscular Disorders

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show abstract

“…One criticism to the MFM highlighted by a recent paper was that although there are items in the MFM 20 that explore transfers and axial motor function, that are important in the stronger type 2 and weaker type 3 patients, there is a paucity of items that fill the gap between the non-ambulant and ambulant patients, with possible ceiling effect in non-ambulant patients [35]. This topic warrants further examination in a larger longitudinal cohort.…”

Section: Natural History Studies and Relevant Outcome Measuresmentioning

confidence: 99%

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

Finkel

Bertini²,

Muntoni

et al. 2015

Neuromuscular Disorders

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198

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“…Основными являются методы функциональной оценки, для которых разработано большое число из-мерительных устройств и протоколов, причем многие из них оптимизированы для измерения отдельных движений, тогда как другие направлены на выявление глобальных изменений в активности пациента [14][15][16][17][18][19][20][21][22][23][24][25]. Методы функциональной оценки относятся к акти-метрии, новой быстро развивающейся дисциплине, и часто становятся единственным способом оценки состояния пациента в привычной для него среде через определенные периоды времени.…”

Section: лекции и обзорыunclassified

Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials (Part I)

Carlier¹,

Marty²,

Scheidegger³

et al. 2016

Neuromuscular Diseases

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Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Cited by 49 publications

References 22 publications

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials (Part I)

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