Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy

Brogna, Claudia; Cristiano, Lara; Tartaglione, Tommaso; Verdolotti, Tommaso; Fanelli, Lavinia; Ficociello, Luana; Tasca, Giorgio; Battini, Roberta; Coratti, Giorgia; Forcina, Nicola; Santis, Roberto De; Norcia, Giulia; Carnicella, Sara; Colosimo, Cesare; Carlier, Pierre; Pane, Marika; Mercuri, Eugenio

doi:10.1371/journal.pone.0199222

Cited by 25 publications

(33 citation statements)

References 23 publications

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“…Patients with congenital muscular dystrophy were assessed exclusively by one instrument 47,48 . The other seven instruments were used to evaluate different types of NMDs 9,16,19,27–31,33,36,38–46,49,53–55,58 …”

Section: Resultsmentioning

confidence: 99%

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Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

Davoli¹,

Cardoso²,

Silva³

et al. 2021

Develop Med Child Neuro

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Aim To synthesize clinical and scientific evidence regarding the instruments available to assess upper‐limb function in paediatric patients with neuromuscular disease (NMD). Method This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses and COnsensus‐based Standards for the selection of health Measurement INstruments (COSMIN) guidelines (Prospective Registry of Systematic Reviews no. CRD42020140343). Two independent reviewers searched the PubMed/MEDLINE, LILACS, Embase, and Scopus databases. Inclusion criteria were cross‐sectional or longitudinal studies or randomized controlled trials that used scales or questionnaires to assess upper‐limb function in paediatric patients with NMDs. The COSMIN Risk of Bias checklist and criteria for good measurement properties were applied to assess the methodological quality of the instruments. Results In total, 34 articles and 12 instruments were included. The Brooke Upper Extremity (n=16) and Performance of Upper Limb (PUL) (n=12) instruments were the most used tools. The PUL and Duchenne muscular dystrophy (DMD) Upper Limb patient‐reported outcome measures (PROMs) tested more measurement properties and provided higher methodological quality scores for patients with DMD. Likewise, the Revised Upper Limb Module (RULM) was the most suitable instrument for patients with spinal muscular atrophy. No instrument has been devised to assess upper‐limb function in patients with Charcot–Marie–Tooth disease and no other disease‐specific instruments were found. Interpretation The PUL, DMD Upper Limb PROM, and RULM are the most suitable instruments to assess upper‐limb function in the two most prevalent paediatric NMDs. The identified gaps and methodological flaws of the available instruments indicate a need to develop high‐quality instruments to assess other types of paediatric NMDs. The most suitable observer–rater instrument to assess upper‐limb function in Duchenne muscular dystrophy (DMD) is the Performance of Upper Limb. The most suitable observer–rater instrument to assess upper‐limb function in spinal muscular atrophy is the Revised Upper Limb Module. The DMD Upper Limb patient‐reported outcome measure is recommended to assess the upper‐limb performance of patients with DMD. Literature gaps and methodological flaws indicate the need to develop high‐quality instruments to assess other types of paediatric neuromuscular disease.

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Section: Resultsmentioning

confidence: 99%

“…Most studies were conducted in the USA, 19,27,29,37,41,42,46–48 followed by Italy, 40,45,50,51 Turkey, 28,34,35,39 and the Netherlands 33,36,38,58 . Five studies were multisite and included countries such as France, Spain, Germany, Belgium, Switzerland, Denmark, Canada, Ireland, Australia, Nepal, Peru, and India 9,21,26,52,55 …”

Section: Resultsmentioning

confidence: 99%

Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

Davoli¹,

Cardoso²,

Silva³

et al. 2021

Develop Med Child Neuro

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“…Our study also found that PUL scale is effective in detecting early upper limb shoulder involvement in DMD patients still in the ambulatory stage with a mean shoulder score of 13.50 (SD 2.33) ( Table 4) followed by a declining trend with age ( Figure 1). In fact, subclinical involvement in latissimus dorsi, serratus anterior, shoulder rotators and deltoid had been detected in patients with full score in shoulder domain by upper limb muscle MRI [29] . Another study with 164 patients with DMD [30] had shown that the onset of shoulder involvement occurred in the ambulatory phase for patients with DMD and the shoulder scoring could range from 2 to 16 (mean 13.98, SD 3.04).…”

Section: Discussionmentioning

confidence: 97%

Performance of the Upper Limb Module—A Reliable and Valid Evaluation for Chinese Patients with Duchenne Muscular Dystrophy

Chiu

Hui

et al. 2020

Preprint

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Background Duchenne muscular dystrophy is a genetic disease leading to progressive muscle weakness and degeneration. Effective assessment tool is needed to allow monitoring of progress to guide the management. This study assessed the reliability and validity of the Performance of Upper Limb (PUL) Module when used in patients with Duchenne Muscular Dystrophy (DMD). MethodsTotal thirty-three Chinese DMD patients were included. Twenty-five video-recorded PUL Module version 1.3 assessments were performed for the recruited patients with three raters evaluated the same recorded video for inter-rater reliability and evaluated the same performance one month later for intra-rater reliability. Construct validity was assessed correlating the PUL Module scores with the patients’ age, their forced vital capacity (N=25) and their Hammersmith motor scale scores (N=25) performed on the same day. ResultsThe intra-rater and inter-rater reliability (ICC 0.92 - 0.99), internal consistency (Cronbach’s alpha 0.97 - 0.99) and known groups validity (AUC 0.97) of PUL module were excellent. PUL was negatively correlated with age (r = -0.912), and positively correlated with the forced vital capacity (r = 0.87) and the Hammersmith motor scale (r = 0.84). The findings confirm the high reliability and validity of PUL module, and its high clinical relevancy in monitoring the deteriorating upper limb motor performance that strongly correlated with the lung function and generalized motor performance as age increased in DMD. ConclusionThis first study of PUL module in Chinese patients with DMD confirmed that it is a reliable valid tool to monitor clinical progress and outcome for DMD.

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“…PUL module has the advantage of providing evidence on the functional evolution over time of the disease from distal to proximal levels. After the beginning of this study, a novel version of the PUL module (PUL 2.0) has been validated and shared with the scientific community [13,36,37]. PUL 2.0 is constituted by 22 items, and some items of the previous version were deleted (i.e., items B, I, K, U, and V).…”

Section: Discussionmentioning

confidence: 99%

“…In DMD, the PUL module has been widely studied and used to evaluate changes in the muscular function of upper limbs along with time [36,37]. However, in LGMD and BMD, only Artilhiero studied some patients to investigate the relationship between the PUL module and Jebsen-Taylor Test to assess and monitor upper limb function progression in patients with different MD types [21].…”

Section: Discussionmentioning

confidence: 99%

Test-retest reliability of the Performance of Upper Limb (PUL) module for muscular dystrophy patients

et al. 2020

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The Performance of the Upper Limb (PUL) module is an externally-assessed clinical scale, initially designed for the Duchenne muscular dystrophy population. It provides an upper extremity functional score suitable for both weaker ambulatory and non-ambulatory phases up to the severely impaired patients. It is capable of characterizing overall progression and severity of disease and of tracking the stereotypical proximal-to-distal progressive loss of upper limb function in muscular dystrophy. Since the PUL module has been validated only with Duchenne patients, its use also for Becker and Limb-Girdle muscular dystrophy patients has been here evaluated, to verify its reliability and extend its use. In particular, two different assessors performed this scale on 32 dystrophic subjects in two consecutive days. The results showed that the PUL module has high reliability, both absolute and relative, based on the calculation of Pearson's r (0.9942), Intraclass Correlation Coefficient (0.9943), Standard Error of Measurement (1.36), Minimum Detectable Change (3.77), and Coefficient of Variation (3%). The Minimum Detectable Change, in particular, can be used in clinical trials to perform a comprehensive longitudinal evaluation of the effects of interventions with the lapse of time. According to this analysis, an intervention is effective if the difference in the PUL score between subsequent evaluation points is equal or higher than 4 points; otherwise, the observed effect is not relevant. Inter-rater reliability with ten different assessors was evaluated, and it has been demonstrated that deviation from the mean is lower than calculated Minimum Detectable Change. The present work provides evidence that the PUL module is a reliable and valid instrument for measuring upper limb ability in people with different forms of muscular dystrophy. Therefore, the PUL module might be extended to other pathologies and reliably used in multicenter settings.

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Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy

Cited by 25 publications

References 23 publications

Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

Performance of the Upper Limb Module—A Reliable and Valid Evaluation for Chinese Patients with Duchenne Muscular Dystrophy

Test-retest reliability of the Performance of Upper Limb (PUL) module for muscular dystrophy patients

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