A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy

Department of Paediatric Neurology, Catholic University, Rome, Italy.  Dubowitz Neuromuscular Centre, Institute of Child Health, London
Developmental Medicine & Child Neurology (Impact Factor: 3.51). 06/2012; 54(10):879-885. DOI: 10.1111/j.1469-8749.2012.04345.x
Source: PubMed


The recent development of therapeutic approaches for Duchenne muscular dystrophy (DMD) has highlighted the need to identify clinical outcome measures for planned efficacy studies. Although several studies have reported the value of functional scales, timed tests, and measures of endurance aimed at ambulant individuals, less has been done to identify reliable measures of function in individuals who have lost ambulation. The aim of this paper is to provide a critical review of the existing literature on functional measures assessing upper extremity function in DMD. Four observer-rated, performance-based measures and four self-reported scales have been previously used in DMD. Each scale provides useful information but none reflects all the different levels of functional ability in activities of daily living observed in individuals with DMD at different ages.


Available from: Anna Mayhew, Oct 16, 2014
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    • "Boys who cannot walk are therefore not eligible for participation in these initial pivotal trials. The biggest obstacle to performing clinical trials that address function in the boys and men who are non-ambulatory is the dearth of adequate, quantifiable, and sensitive upper extremity (UE) outcome measures to capture changes over time9. This leaves an enormous unmet need for a large proportion of persons with neuromuscular disease who can no longer walk; and therefore given delayed access to these potentially lifesaving drugs due to the lack of a valid and reliable UE functional outcome measure. "
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    ABSTRACT: Individuals with dystrophinopathy lose upper extremity strength in proximal muscles followed by those more distal. Current upper extremity evaluation tools fail to fully capture changes in upper extremity strength and function across the disease spectrum as they tend to focus solely on distal ability. The Kinect by Microsoft is a gaming interface that can gather positional information about an individual's upper extremity movement which can be used to determine functional reaching volume, velocity of movement, and rate of fatigue while playing an engaging video game. The purpose of this study was to determine the feasibility of using the Kinect platform to assess upper extremity function in individuals with dystrophinopathy across the spectrum of abilities. Investigators developed a proof-of-concept device, ACTIVE (Abilities Captured Through Interactive Video Evaluation), to measure functional reaching volume, movement velocity, and rate of fatigue. Five subjects with dystrophinopathy and 5 normal controls were tested using ACTIVE during one testing session. A single subject with dystrophinopathy was simultaneously tested with ACTIVE and a marker-based motion analysis system to establish preliminary validity of measurements. ACTIVE proof-of-concept ranked the upper extremity abilities of subjects with dystrophinopathy by Brooke score, and also differentiated them from performance of normal controls for the functional reaching volume and velocity tests. Preliminary test-retest reliability of the ACTIVE for 2 sequential trials was excellent for functional reaching volume (ICC=0.986, p<0.001) and velocity trials (ICC=0.963, p<0.001). The data from our pilot study with ACTIVE proof-of-concept demonstrates that newly available gaming technology has potential to be used to create a low-cost, widely-accessible and functional upper extremity outcome measure for use with children and adults with dystrophinopathy.
    PLoS Currents 03/2013; 5. DOI:10.1371/currents.md.9ab5d872bbb944c6035c9f9bfd314ee2
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    ABSTRACT: Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially important to evaluations of efficacy of new treatments in non-ambulant patients. In patients who have lost ambulation, there are few validated and informative outcome measures. In addition, longitudinal data demonstrating sensitivity to clinical evolution of outcome measures over short-term periods are lacking. We report here the results of a one-year multicenter study using specifically designed tools to assess grip, pinch strength, and hand function in wheelchair-bound patients. Our study assessed 53 non-ambulant patients with Duchenne muscular dystrophy aged 17.1 ± 4.8 years (range: 9 - 28.1 years). The average Brooke functional score of these patients was 4.6 ± 1.1. The average forced vital capacity was 44.5% predicted and 19 patients used non-invasive ventilation. Patients were assessed at baseline, 6 months, and one year using the Motor Function Measure and innovative devices (namely the MyoSet composed of MyoGrip, MyoPinch, and MoviPlate). Our study confirmed preliminary data previously reported regarding feasibility of use and of reliability of the MyoSet and the correlation at baseline between distal strength and clinical outcomes such as FVC, Brooke score, age, and duration since loss of ambulation. A significant correlation was observed between the distal upper limb strength and clinical variables. The sensitive dynamometers (MyoGrip and MyoPinch) and MoviPlate captured a 12-month change in non-ambulant Duchenne muscular dystrophy patients of all ages. ClinicalTrials.gov NCT00993161 NCT00993161.
    PLoS ONE 02/2015; 10(2):e0113999. DOI:10.1371/journal.pone.0113999 · 3.23 Impact Factor

  • Neuromuscular Disorders 07/2012; 22(11). DOI:10.1016/j.nmd.2012.06.006 · 2.64 Impact Factor
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