Rasch analysis of clinical outcome measures in spinal muscular atrophy

Cano, Stefan; Mayhew, Anna; Glanzman, Allan M.; Krosschell, Kristin J.; Swoboda, Kathryn J.; Main, Marion; Steffensen, Birgit F.; Bérard, C.; Girardot, F.; Payán, C.; Mercuri, Eugenio; Mazzone, Elena; Elsheikh, Bakri; Florence, Julaine; Hynan, Linda S.; Iannaccone, Susan T.; Nelson, Leslie; Pandya, Shree; Rose, Michael R.; Scott, Charles; Sadjadi, Reza; Yore, Mackensie; Joyce, Cynthia; Kissel, John T.

doi:10.1002/mus.23937

Cited by 64 publications

(65 citation statements)

References 49 publications

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“…24 This kind of analysis was recently used by Cano et al 9 for spinal muscular atrophy outcome measures. It is used here to identify some items that affect the validity of MFM-32 and introduce the minimal changes that can ensure the fit of the data to the Rasch model.…”

Section: Discussionmentioning

confidence: 99%

“…Within this context, the Rasch analysis, developed by Georg Rasch, 5 is a rigorous approach for an in-depth understanding of a scale’s metrological properties 6–9 and an evaluation of properties not analyzed by the classical test theory—for example, how well an item performs in terms of relevance or usefulness in measuring the underlying test construct, the amount of the construct targeted by each question, the possible redundancy of an item regarding other items in the scale, and the appropriateness of response categories along the entire range of disease severity. 10 The Rasch model assumes that the probability of a participant’s endorsing (ie, ability to perform) an item is a logistic function of the relative difference between the item’s location (its difficulty) and the person’s location (his or her ability).…”

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confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

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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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“…Mayhew discussed the Rasch analyses of the motor function scales in SMA [61]. She highlighted where these scales had more robust areas of strength, where gaps need to be addressed and how rescoring selected items would optimize the linearity of the scales.…”

Section: Outcome Measures -Older Scales Revisited and Newer Testing Tmentioning

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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“…Eight of eleven were clinical responders and had a significant increase at V3 and V4 versus V0 (median ≥3 points; signed-rank test, p≤0.042, online supplementary figure 1E); this improvement was also confirmed when linearising the data, according to the Rasch analysis (p≤0.035) 24…”

Section: Resultsmentioning

confidence: 72%

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

Tiziano¹,

Lomastro²,

Abiusi³

et al. 2018

J Med Genet

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BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, due to the loss of function of the survival motor neuron (SMN1) gene. The first treatment for the condition, recently approved, is based on the reduction of exon 7 skipping in mRNAs produced by a highly homologous gene (SMN2). The primary objective of the present study was to evaluate the applicability of the dosage of SMN gene produts in blood, as biomarker for SMA, and the safety of oral salbutamol, a beta2-adrenergic agonist modulating SMN2 levels.MethodsWe have performed a 1-year multicentre, double-blind, placebo-controlled study with salbutamol in 45 adult patients with SMA. Patients assumed 4 mg of salbutamol or placebo/three times a day. Molecular tests were SMN2 copy number, SMN transcript and protein levels. We have also explored the clinical effect, by the outcome measures available at the time of study design.ResultsThirty-six patients completed the study. Salbutamol was safe and well tolerated. We observed a significant and progressive increase in SMN2 full-length levels in peripheral blood of the salbutamol-treated patients (p<0.00001). The exploratory analysis of motor function showed an improvement in most patients.ConclusionsOur data demonstrate safety and molecular efficacy of salbutamol. We provide the first longitudinal evaluation of SMN levels (both transcripts and protein) in placebo and in response to a compound modulating the gene expression: SMN transcript dosage in peripheral blood is reliable and may be used as pharmacodynamic marker in clinical trials with systemic compounds modifying SMN2levels.Trial registration numberEudraCT no. 2007-001088-32.

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Rasch analysis of clinical outcome measures in spinal muscular atrophy

Cited by 64 publications

References 49 publications

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

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

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

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

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