Revised upper limb module for spinal muscular atrophy: Development of a new module

Mazzone, Elena; Mayhew, Anna; Montes, Jacqueline; Ramsey, Danielle; Fanelli, Lavinia; Young, Sally Dunaway; Salazar, Rachel; Sanctis, Roberto De; Pasternak, Amy; Glanzman, Allan M.; Coratti, Giorgia; Civitello, Matthew; Forcina, Nicola; Gee, Richard; Duong, Tina; Pane, Marika; Scoto, Mariacristina; Pera, Maria Carmela; Messina, Sonia; Tennekoon, Gihan; Day, John W.; Darras, Basil T.; Vivo, Darryl C. De; Finkel, Richard S.; Muntoni, Francesco; Mercuri, Eugenio

doi:10.1002/mus.25430

Cited by 199 publications

(228 citation statements)

References 15 publications

(25 reference statements)

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“…The physical therapists in the participating clinics received the same training programs with establishment of yearly intra and inter‐rater reliability, and standardized procedures of scale administration. Inter and intra observer reliability of the RULM of the same examiners have been reported …”

Section: Methodsmentioning

confidence: 99%

“…The RULM includes a number of additional items that expand the spectrum of upper limb activities included in the ULM in order to reduce the risk of ceiling effect in stronger children. The revised scale has been shown to measure the same construct as the original ULM and has shown robust psychometric properties . While this reliability, validity and suitability of the scale in a multi‐center clinical research setting have been published, there is yet no longitudinal data on the RULM.…”

mentioning

confidence: 99%

“…The revised scale has been shown to measure the same construct as the original ULM and has shown robust psychometric properties. 3 While this reliability, validity and suitability of the scale in a multi-center clinical research setting have been published, 3 there is yet no longitudinal data on the RULM.…”

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confidence: 99%

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Revised upper limb module for spinal muscular atrophy: 12 month changes

et al. 2019

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Introduction: The aim of the study was to assess 12 month changes in upper limb function in patients affected by spinal muscular atrophy type 2 and 3. Methods: Longitudinal 12 month data was collected in 114 patients, 60 type 2 and 54 type 3, using the Revised Upper Limb Module. Results: The 12 month changes ranged between ‐7 and 9 (mean: ‐0.41; SD: 2.93). The mean changes were not significantly different between the three spinal muscular atrophy groups (‐0.45 in type 2, ‐0.23 in non‐ambulant type 3 and ‐0.34 in ambulant type 3, p = 0.96) and the relationship between 12 month change and age classes was not significantly different among the three types of SMA patients. Discussion: Our results confirm that the Module explores a wide range of functional abilities and can be used in ambulant and non‐ambulant patients of different ages in conjunction with other functional scales. Muscle Nerve 59:426–430, 2019

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Section: Methodsmentioning

confidence: 99%

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confidence: 99%

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Revised upper limb module for spinal muscular atrophy: 12 month changes

et al. 2019

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“…While the HFMSE and RULM have a body of literature supporting their use in SMA with training and reliability, they can be problematic for a few reasons. First, an evaluator‐rated ordinal scale may be less responsive to change as large improvements in function may be required to improve the total score and have potential floor and ceiling effects in various SMA cohorts . Additionally, these outcomes require significant training and reliability to ensure consistent administration and scoring across sites .…”

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confidence: 99%

“…[2][3][4][5][6] Several insurers in the USA have published criteria for issuing approvals for treatment contingent on documented improvement or stabilization. 7 Outcomes have been developed to capture the natural history of SMA, such as the Hammersmith Functional Motor Scale Expanded (HFMSE), 4 Revised Upper Limb Module (RULM), 8 and patient-reported outcomes that use a subjective, ordinal scoring system to grade function. While the HFMSE and RULM have a body of literature supporting their use in SMA with training and reliability, they can be problematic for a few reasons.…”

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confidence: 99%

ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy

Alfano

Miller

Iammarino

et al. 2019

Develop Med Child Neuro

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ACTIVE Ability Captured Through Interactive Video Evaluation HFMSE Hammersmith Functional Motor Scale Expanded MCID Minimal clinically important difference PROMIS Patient Reported Outcomes Measurement Information System RULM Revised Upper Limb Module SMA Spinal muscular atrophy WSV Workspace volume AIM To evaluate the utility of Ability Captured Through Interactive Video Evaluation (ACTIVE) scaled scores to quantify meaningful change in individuals with spinal muscular atrophy (SMA) types 2 or 3 due to disease progression or treatment. METHOD ACTIVE is a custom-designed video game that measures workspace volume (WSV). Participants included 62 individuals with SMA (mean age [SD] 10y 9mo [5y], range 2y 9mo-24y) and 362 frequency-matched controls (mean age [SD] 10y 9mo [3y 6mo], range 3y 2mo-24y 9mo). Participants completed ACTIVE, other traditional assessments, and patient-reported outcomes. Responsiveness to change was evaluated by comparing longitudinal data on untreated participants to those receiving Spinraza. RESULTS ACTIVE was significantly correlated to the Hammersmith Functional Motor Scales Expanded and Revised Upper Limb Module (q=0.85 and q=0.92 respectively; p<0.001). Relevance to patients and families was established by strong correlations to the Patient Reported Outcomes Measurement Information System self-and parent proxy-measures of upper extremity ability (q=0.63 and q=0.70 respectively; p<0.001). Responsiveness to change was demonstrated by significant change in scaled scores after treatment (median 15.9 points, Wilcoxon signed-rank test p<0.01). A preliminary minimum clinically important difference is presented.

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Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Freigang

Wurster

Hagenacker

et al. 2021

Ann Clin Transl Neurol

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Objective To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated spinal muscular atrophy (SMA). Methods Within this retrospective, multicenter observational study in 206 adult patients with SMA, we determined clinical subtypes (SMA types, ambulatory ability) and repeatedly measured CK and Crn and examined disease severity scores (Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, and revised Amyotrophic Lateral Sclerosis Functional Rating Scale). Patients were followed under nusinersen treatment for 18 months. Results CK and Crn differed between clinical subtypes and correlated strongly with disease severity scores (e.g., for Hammersmith Functional Motor Scale Expanded: (CK) ρ = 0.786/ (Crn) ρ = 0.558). During the 18 months of nusinersen treatment, CK decreased (∆CK = −17.56%, p < 0.0001), whereas Crn slightly increased (∆Crn = +4.75%, p < 0.05). Interpretation Serum creatine kinase activity and serum creatinine concentration reflect disease severity of spinal muscular atrophy and are promising biomarkers to assess patients with spinal muscular atrophy during disease course and to predict treatment response. The decrease of creatine kinase activity, combined with the tendency of creatinine concentration to increase during nusinersen treatment, suggests reduced muscle mass wasting with improved muscle energy metabolism.

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Revised upper limb module for spinal muscular atrophy: Development of a new module

Abstract: The resulting RULM scale shows good reliability and validity, making it a suitable tool to assess upper extremity function in the SMA population for multi-center clinical research. Muscle Nerve 55: 869-874, 2017.

Cited by 199 publications

References 15 publications

Revised upper limb module for spinal muscular atrophy: 12 month changes

Revised upper limb module for spinal muscular atrophy: 12 month changes

ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy

Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

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