173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

Bönnemann, C.; Rutkowski, Anne; Muntoni, Francesco

doi:10.1016/j.nmd.2011.04.004

Cited by 17 publications

(14 citation statements)

References 22 publications

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“…An upper extremity scale (Quality of Upper Extremity Skills Test [QUEST]) was added because some individuals with CMD do not achieve ambulation and upper extremity function measurement is very important in this population [3]. Like the MFM32, it would allow assessment of both ambulatory and non-ambulatory individuals on a single scale.…”

Section: Methodsmentioning

confidence: 99%

“…However, both types include early- and late-onset presentations, as well as a severity spectrum [1,2]. Given this broad phenotypic spectrum, the 173 rd European Neuromuscular Centre (ENMC) International workshop on CMD outcome measures recommended evaluating performance using a battery of outcomes such as forced vital capacity (FVC) percent predicted, motor scales, quality of life measures, caregiver assessments, goniometry, and myometry [3]. Because therapeutic interventions are currently under development for these two CMD subtypes, the establishment of validated clinical outcome measures becomes a clinical priority [3].…”

Section: Introductionmentioning

confidence: 99%

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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: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

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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“…While some UCMD patients may not achieve the ability to walk, more commonly walking is achieved for some years, and then is lost again in the late first or early second decade of life due to combined progressive hip contractures and increasing weakness. A steady decline in percent predicted forced vital capacity is observed in virtually all Ullrich patients, leading to predominantly night-time respiratory insufficiency [74–76] in which the diaphragm is disproportionally affected [77,78]. …”

Section: Diagnostic Aspects Of Specific Subtypesmentioning

confidence: 99%

Diagnostic approach to the congenital muscular dystrophies

Bönnemann

Wang

Quijano‐Roy

et al. 2014

Neuromuscular Disorders

295

223

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Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the various CMD subtypes and provide a systematic guide to the use of these resources for achieving an accurate molecular diagnosis. An International Committee on the Standard of Care for Congenital Muscular Dystrophies composed of experts on various aspects relevant to the CMDs performed a review of the available literature as well as of the unpublished expertise represented by the members of the committee and their contacts. This process was refined by two rounds of online surveys and followed by a three-day meeting at which the conclusions were presented and further refined. The combined consensus summarized in this document allows the physician to recognize the presence of a CMD in a child with weakness based on history, clinical examination, muscle biopsy results, and imaging. It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis.

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“…However, significant early weakness and multiple joint contractures are very common; they challenge motor outcome scales 1 and may lead to inaccurate motor-function assessments. It is therefore essential that a scale destined to measure motor-function changes in this population provide clinically meaningful and scientifically robust data, especially for use in clinical trials.…”

mentioning

confidence: 99%

“…The Motor Function Measure (MFM) showed encouraging results in a sample of 52 patients. 1 However, 1 major limitation was that prominent upper and lower extremity contractures interfered with the patients’ ability to perform some items. Because the MFM cannot be assumed to fit all types of neuromuscular disorders equally well (ie, all items useful, achievable, and able to cover the whole severity spectrum), its applicability and validity had to be reviewed in a larger sample of patients in an attempt to identify inadequate or suboptimal items.…”

mentioning

confidence: 99%

Rasch Analysis of the Motor Function Measure in Patients With Congenital Muscle Dystrophy and Congenital Myopathy

Vuillerot

Rippert

Kinet

et al. 2014

Archives of Physical Medicine and Rehabilitation

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Objectives To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. The Motor Function Measure (MFM) was examined for robustness, and changes are proposed for better adequacy. Design Observational study based on data previously collected from several cohorts. Setting Nineteen departments of physical medicine or neuromuscular consultation in France, Belgium, and the United States. Participants Patients (N=289) aged 5 to 77 years. Interventions None. Main Outcome Measures A Rasch analysis examined the robustness of the MFM across the disease spectrum. The 3 domains of the scale (standing position and transfers, axial and proximal motor function, and distal motor function) were independently examined with a partial credit model. Results The original 32-item MFM did not sufficiently fit the Rasch model expectations in either of its domains. Switching from a 4- to a 3-category response scale in 18 items restored response order in 16. Various additional checks suggested the removal of 7 items. The resulting Rasch-scaled Motor Function Measure with 25 items for congenital disorders of the muscle (Rs-MFM25CDM) demonstrated a good fit to the Rasch model. Domain 1 was well targeted to the whole severity spectrum—close mean locations for items and persons (0 vs 0.316)—whereas domains 2 and 3 were better targeted to severe cases. The reliability coefficients of the Rs-MFM25CDM suggested sufficient ability for each summed score to distinguish between patient groups (0.9, 0.8, and 0.7 for domains 1, 2, and 3, respectively). A sufficient agreement was found between results of the Rasch analysis and physical therapists’ opinions. Conclusions The Rs-MFM25CDM can be considered a clinically relevant linear scale in each of its 3 domains and may be soon reliably used for assessment in congenital disorders of the muscle.

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173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

Cited by 17 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

Diagnostic approach to the congenital muscular dystrophies

Rasch Analysis of the Motor Function Measure in Patients With Congenital Muscle Dystrophy and Congenital Myopathy

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