Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Pane, Marika; Mazzone, Elena; Fanelli, Lavinia; Sanctis, Roberto De; Bianco, F.; Sivo, Serena; D’Amico, Adele; Messina, Sonia; Battini, Roberta; Scutifero, Marianna; Petillo, Roberta; Frosini, Silvia; Scalise, Roberta; Vita, Gianluca; Bruno, Claudio; Pedemonte, Marina; Mongini, Tiziana; Pegoraro, Elena; Brustia, Francesca; Gardani, Alice; Berardinelli, Angela; Lanzillotta, Valentina; Viggiano, Emanuela; Cavallaro, Fabio; Sframeli, Maria; Bello, Luca; Barp, Andrea; Bonfiglio, S; Rolle, Enrica; Colia, Giulia; Catteruccia, Michela; Palermo, Concetta; D'Angelo, Maria Grazia; Pini, Antonella; Iotti, Elena; Gorni, Ksenija; Baranello, Giovanni; Morandi, Lucia; Bertini, Enrico; Politano, Luisa; Sormani, Maria Pia; Mercuri, Eugenio

doi:10.1016/j.nmd.2013.11.014

Cited by 91 publications

(119 citation statements)

References 12 publications

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“…77,78 In older individuals who are non-ambulatory, the Brooke Upper Extremity Scale, Egen Klassifikation scale, and elbow flexion and grip strength are responsive to change over 1–2 years, 57,79,80 with testing now including reachable workspace 52,81 and assessment of upper limb function (performance of upper limb test). 51,53,58 …”

Section: Rehabilitation Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

878

1,080

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Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

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Section: Rehabilitation Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

878

1,080

View full text Add to dashboard Cite

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“…In comparison, other studies have reported yearly declines in 6MWD ranging between 10 and 57m. 35–37 Even in this young, highly functional group of boys, MR biomarkers were highly responsive to disease progression over 12 months. Notably, we found that even in boys whose 6MWD improved or remained stable over 12 months, a significant increase in FF and MRI-T 2 was noted, indicating that MR biomarkers can detect subclinical disease progression.…”

Section: Discussionmentioning

confidence: 91%

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort

Willcocks

Rooney

Triplett

et al. 2016

Annals of Neurology

137

155

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Objective The aim of this study was to describe Duchenne muscular dystrophy (DMD) disease progression in the lower extremity muscles over 12 months using quantitative magnetic resonance (MR) biomarkers, collected across three sites in a large cohort. Methods A total of 109 ambulatory boys with DMD (8.7±2.0 years; range, 5.0–12.9) completed baseline and 1-year follow-up quantitative MR imaging (transverse relaxation time constant; MRI-T2), MR spectroscopy (fat fraction and 1H2O T2), and 6-minute walk test (6MWT) measurements. A subset of boys completed additional measurements after 3 or 6 months. Results MRI-T2 and fat fraction increased significantly over 12 months in all age groups, including in 5- to 6.9-year-old boys. Significant increases in vastus lateralis (VL) fat fraction were observed in 3 and 6 months. Even in boys whose 6MWT performance improved or remained stable over 1 year, significant increases in MRI-T2 and fat fraction were found. Of all the muscles examined, the VL and biceps femoris long head were the most responsive to disease progression in boys with DMD. Interpretation MR biomarkers are responsive to disease progression in 5- to 12.9-year-old boys with DMD and able to detect subclinical disease progression in DMD, even within short (3–6 months) time periods. The measured sensitivity of MR biomarkers in this multicenter study may be critically important to future clinical trials, allowing for smaller sample sizes and/or shorter study windows in this fatal rare disease.

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“…Following MR data acquisition, subjects completed the Performance of Upper Limb test (PUL) as previously described [14, 16], the Brooke Upper Extremity Scale [5], and grip and pinch strength testing using a Jamar handgrip dynamometer [13]. …”

Section: Methodsmentioning

confidence: 99%

Magnetic resonance imaging of the proximal upper extremity musculature in boys with Duchenne muscular dystrophy

et al. 2016

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There is a pressing need for biomarkers and outcomes that can be used across disease stages in Duchenne muscular dystrophy (DMD), to facilitate the inclusion of a wider range of participants in clinical trials and to improve our understanding of the natural history of DMD. Quantitative magnetic resonance imaging (qMRI) and spectroscopy (MRS) biomarkers show considerable promise in both the legs and forearms of individuals with DMD, but have not yet been examined in functionally important proximal upper extremity muscles such as the biceps brachii and deltoid. The primary objective of this study was to examine the feasibility of implementing qMRI and MRS biomarkers in the proximal upper extremity musculature, and the secondary objective was to examine the relationship between MR measures of arm muscle pathology and upper extremity functional endpoints. Biomarkers included MRS and MRI measures of fat fraction and transverse relaxation time (T2). The MR exam was well tolerated in both ambulatory and nonambulatory boys. qMR biomarkers differentiated affected and unaffected participants and correlated strongly with upper extremity function (r=0.91 for biceps brachii T2 versus Performance of Upper Limb score). These qMR outcome measures could be highly beneficial to the neuromuscular disease community, allowing measurement of the quality of functionally important muscles across disease stages to understand the natural history of DMD and particularly to broaden the opportunity for clinical trial participation.

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Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Cited by 91 publications

References 12 publications

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort

Magnetic resonance imaging of the proximal upper extremity musculature in boys with Duchenne muscular dystrophy

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