Outcome reliability in non‐Ambulatory Boys/Men with duchenne muscular dystrophy

Connolly, Anne M.; Malkus, Elizabeth C.; Mendell, Jerry R.; Flanigan, Kevin M.; Miller, J. Philip; Schierbecker, Jeanine; Siener, Catherine; Golumbek, Paul T.; Zaidman, Craig M.; McDonald, Craig; Johnson, Linda B.; Nicorici, Alina; Karachunski, Peter; Day, John W.; Kelecic, Jason M.; Lowes, Linda; Alfano, Lindsay; Darras, Basil T.; Kang, Peter B.; Quigley, Janet; Pasternak, Amy; Florence, Julaine

doi:10.1002/mus.24346

Cited by 61 publications

(73 citation statements)

References 52 publications

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“…49,61,76 Assessment of, and intervention for, learning, attention, and sensory processing should begin at young ages. 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

806

960

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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

806

960

View full text Add to dashboard Cite

show abstract

“…QUS is feasible in infants and older boys and men with DMD and can be performed regardless of age or willingness to cooperate, which allows for serial assessments across time. No functional outcome measure is feasible in DMD across all ages and abilities . In our study, 2 boys became too old for normative assessments using the Bayley‐III, and 1 was too young to participate in the NSAA.…”

Section: Discussionmentioning

confidence: 84%

Muscle ultrasound quantifies disease progression over time in infants and young boys with duchenne muscular dystrophy

2015

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Introduction Quantitative muscle ultrasound (QUS) in boys with Duchenne Muscular Dystrophy (DMD) shows increased echointensity as muscle is replaced with fat and fibrosis. Studies of quantitative ultrasound in infants/young boys with DMD over time have not been reported. Methods We used calibrated muscle backscatter (cMB), a reproducible measure of ultrasound echointensity, to quantify muscle pathology in 5 young boys with DMD (ages 0.5–2.8 years) over 17–29 months. We compared results to repeated assessments of function (n=4) and to muscle ultrasound images from a cross section of 6 male controls (0.6–3.1 years). Results cMB in boys with DMD increased (worsened) over time (P<0.001), while function improved. After age 2 years, cMB in most (4 of 5) boys with DMD was higher than in any control. Conclusions QUS measures disease progression in young boys with DMD despite functional improvements. QUS could be employed as an outcome measure for serial assessment of young boys with DMD.

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“…They also reported no significant association of QOL with increasing age. [27] Only the score of RP was lower in the young group than in the older group in this study, indicating that oldest patients with DMD may be better adjusted to their self-perceived roles in physical QOL. However, the scores for Social Relationships measured by the WHOQOL-BREF differed significantly in the young and oldest groups.…”

Section: Quality Of Life Of Dmdmentioning

confidence: 75%

Quality of life of patients with Duchenne muscular dystrophy: from adolescence to young men

Lue

Chen

2016

Disability and Rehabilitation

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The adolescent and young men with DMD had poor health-related and global QOL. Poor QOL was related to both physical condition and social health. We suggest that rehabilitation programs focus on using assistive devices to facilitate arm function and encouraging participation in social activities to improve the QOL of patients with DMD. Implications for rehabilitation Duchenne muscular dystrophy (DMD) is a progressive muscle weakness disease that not only impacts physical health but also leads to poor quality of life in many domains. A valuable rehabilitation goal for patients with DMD is to encourage participation in social activities. Medical care and educational programs should plan a formal transition processes for patients with DMD from pediatric to adult care to maximum their quality of life. Arm function is associated with many domains of global quality of life, so a key element in improving quality of life may be to improve arm function.

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Outcome reliability in non‐Ambulatory Boys/Men with duchenne muscular dystrophy

Cited by 61 publications

References 52 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

Muscle ultrasound quantifies disease progression over time in infants and young boys with duchenne muscular dystrophy

Quality of life of patients with Duchenne muscular dystrophy: from adolescence to young men

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