Reachable workspace analysis is a potential measurement for impairment of the upper extremity in neuralgic amyotrophy.

INTRODUCTION/AIMS: Neuralgic amyotrophy (NA) is a multifocal neuropathy involving the nerves of the upper extremity, limiting functional capability and reducing range of motion. The reachable workspace (RWS) is a computerized three-dimensinal analysis system that evaluates the relative surface area (RSA) of an individual's arm reachability and has shown utility in several neuromuscular disorders. The aims of this study were to examine the ability of the RWS to quantitatively detect limitations in upper extremity active range of motion in patients with NA, and correlate these with other upper extremity functional outcome measures. METHODS: Forty-seven patients with NA and 25 healthy age- and sex-matched controls were measured with the RWS. Study participants' RSAs were correlated with scores on the Shoulder Rating Questionnaire (SRQ), the Disabilities of Arm Shoulder and Hand (DASH) questionnaire, and upper extremity strength measurements using hand-held dynamometry. RESULTS: Patients with NA showed significantly lower values in the affected arm for all quadrants (except for the ipsilateral lower quadrant) and total RSA compared with controls (P < 0.001). We found moderate correlations between the reachable workspace, the DASH questionnaire result (r = -0.415), and serratus anterior muscle strength (r = 0.414). DISCUSSION: RWS is able to detect limitations in active range of motion of the affected arm in patients with NA, and is moderately correlated with upper extremity functional measures. RWS can demonstrate impairment of the affected upper extremity in NA and it has potential as a clinical outcome measure.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Importance: Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen and dosage. Objective: To compare efficacy and adverse effects of the 3 most frequently prescribed corticosteroid regimens in boys with Duchenne muscular dystrophy. Design, Setting, and Participants: Double-blind, parallel-group randomized clinical trial including 196 boys aged 4 to 7 years with Duchenne muscular dystrophy who had not previously been treated with corticosteroids; enrollment occurred between January 30, 2013, and September 17, 2016, at 32 clinic sites in 5 countries. The boys were assessed for 3 years (last participant visit on October 16, 2019). Interventions: Participants were randomized to daily prednisone (0.75 mg/kg) (n = 65), daily deflazacort (0.90 mg/kg) (n = 65), or intermittent prednisone (0.75 mg/kg for 10 days on and then 10 days off) (n = 66). Main Outcomes and Measures: The global primary outcome comprised 3 end points: rise from the floor velocity (in rise/seconds), forced vital capacity (in liters), and participant or parent global satisfaction with treatment measured by the Treatment Satisfaction Questionnaire for Medication (TSQM; score range, 0 to 100), each averaged across all study visits after baseline. Pairwise group comparisons used a Bonferroni-adjusted significance level of .017. Results: Among the 196 boys randomized (mean age, 5.8 years [SD, 1.0 years]), 164 (84%) completed the trial. Both daily prednisone and daily deflazacort were more effective than intermittent prednisone for the primary outcome (P < .001 for daily prednisone vs intermittent prednisone using a global test; P = .017 for daily deflazacort vs intermittent prednisone using a global test) and the daily regimens did not differ significantly (P = .38 for daily prednisone vs daily deflazacort using a global test). The between-group differences were principally attributable to rise from the floor velocity (0.06 rise/s [98.3% CI, 0.03 to 0.08 rise/s] for daily prednisone vs intermittent prednisone [P = .003]; 0.06 rise/s [98.3% CI, 0.03 to 0.09 rise/s] for daily deflazacort vs intermittent prednisone [P = .017]; and -0.004 rise/s [98.3% CI, -0.03 to 0.02 rise/s] for daily prednisone vs daily deflazacort [P = .75]). The pairwise comparisons for forced vital capacity and TSQM global satisfaction subscale score were not statistically significant. The most common adverse events were abnormal behavior (22 [34%] in the daily prednisone group, 25 [38%] in the daily deflazacort group, and 24 [36%] in the intermittent prednisone group), upper respiratory tract infection (24 [37%], 19 [29%], and 24 [36%], respectively), and vomiting (19 [29%], 17 [26%], and 15 [23%]). Conclusions and Relevance: Among patients with Duchenne muscular dystrophy, treatment with daily prednisone or daily deflazacort, compared with intermittent prednisone alternating 10 days on and 10 days off, resulted in significant improvement over 3 years in a composite outcome comprising measures of motor function, pulmonary function, and satisfaction with treatment; there was no significant difference between the 2 daily corticosteroid regimens. The findings support the use of a daily corticosteroid regimen over the intermittent prednisone regimen tested in this study as initial treatment for boys with Duchenne muscular dystrophy. Trial Registration: ClinicalTrials.gov Identifier: NCT01603407.

Motion sensor-acquired reachable workspace correlates with patient-reported upper extremity activities of daily living (ADL) function in facioscapulohumeral dystrophy.

BACKGROUND: This study examines the correlation, and clinical meaningfulness, between reachable workspace outcome and reported activities of daily living (ADL) function of individuals with facioscapulohumeral dystrophy (FSHD). METHODS: Twenty-one FSHD subjects with various disease severity (clinical severity scores 1-4) underwent reachable workspace evaluation and completed the Quality of Life in Neurological Disorders (NeuroQoL) upper extremity questionnaire. Spearman and receiver operator curve analyses were performed. RESULTS: Moderate correlation was found between NeuroQoL scores and total (ρ = 0.7609; P < .01), and upper-quadrants relative surface areas (RSAs) (ρ = 0.6969; P < .01). Five specific items (ie, shirt on, shirt off, use spoon, pull on pants, pick-up clothes) demonstrated even higher correlations with total (ρ = 0.8397; P < .01) and above shoulder (ρ = 0.8082; P < .01) RSAs. A total RSA cuffoff value of 0.70 would achieve 100% sensitivity and 94% specificity (area under the curve = 0.975). CONCLUSIONS: Reachable workspace values identify when individuals have difficulties performing ADLs at home. This information improves patient monitoring, and clinical decision making by enabling more timely recommendations for medications, assistive devices, or considerations for clinical trial enrollments.

Usefulness of Kinect sensor-based reachable workspace system for assessing upper extremity dysfunction in breast cancer patients.

PURPOSE: Recently, the utility of the Kinect sensor-based reachable workspace analysis system for measuring upper extremity outcomes of neuromuscular and musculoskeletal diseases has been demonstrated. Here, we investigated its usefulness for assessing upper extremity dysfunction in breast cancer patients. METHODS: Twenty unilateral breast cancer patients were enrolled. Upper extremity active range of motion was captured by the Kinect sensor, and reachable workspace relative surface areas (RSAs) were obtained. The QuickDASH was completed to assess upper extremity disability. General and breast cancer-specific quality of life (QOL) were assessed by the EORTC QLQ-C30 and EORTC QLQ-BR23. RESULTS: The total RSA ratio of the affected and unaffected sides ranges from 0.64 to 1.11. Total RSA was significantly reduced on the affected versus unaffected side (0.659 ± 0.105 vs. 0.762 ± 0.065; p = 0.001). Quadrant 1 and 3 RSAs were significantly reduced (0.135 ± 0.039 vs. 0.183 ± 0.040, p < 0.001; 0.172 ± 0.058 vs. 0.217 ± 0.031, p = 0.006). Total RSA of the affected side was strongly correlated with the numeric pain rating scale during movement (r = - 0.812, p < 0.001) and moderately with the QuickDASH (r = - 0.494, p = 0.027). Further, quadrant 3 RSA was correlated with EORTC QLQ-C30 role functioning (r = 0.576, p = 0.008) and EORTC QLQ-BR23 arm symptoms (r = - 0.588, p = 0.006) scales. CONCLUSIONS: The Kinect sensor-based reachable workspace analysis system was effectively applied to assess upper extremity dysfunction in breast cancer patients. This system could potentially serve as a quick and simple outcome measure that provides quantitative data for breast cancer patients.

Upper extremity 3-dimensional reachable workspace assessment in amyotrophic lateral sclerosis by Kinect sensor.

INTRODUCTION: Reachable workspace is a measure that provides clinically meaningful information regarding arm function. In this study, a Kinect sensor was used to determine the spectrum of 3-dimensional reachable workspace encountered in a cross-sectional cohort of individuals with amyotrophic lateral sclerosis (ALS). METHODS: Bilateral 3D reachable workspace was recorded from 10 subjects with ALS and 17 healthy controls. The data were normalized by each individual's arm length to obtain a reachable workspace relative surface area (RSA). Concurrent validity was assessed by correlation with scoring on the ALS Functional Rating Score-revised (ALSFRSr). RESULTS: The Kinect-measured reachable workspace RSA differed significantly between the ALS and control subjects (0.579 ± 0.226 vs. 0.786 ± 0.069; P < 0.001). The RSA demonstrated correlation with ALSFRSr upper extremity items (Spearman correlation ρ = 0.569; P = 0.009). With worsening upper extremity function, as categorized by the ALSFRSr, the reachable workspace also decreased progressively. CONCLUSIONS: This study demonstrates the feasibility and potential of using a novel Kinect-based reachable workspace outcome measure in ALS.

Reachable workspace and performance of upper limb (PUL) in duchenne muscular dystrophy.

INTRODUCTION: The Kinect-based reachable workspace relative surface area (RSA) is compared with the performance of upper limb (PUL) assessment in Duchenne muscular dystrophy (DMD). METHODS: 29 individuals with DMD (ages: 7-23; Brooke: 1-5) underwent both Kinect-based reachable workspace RSA and PUL assessments. RSAs were also collected from 24 age-matched controls. Total and quadrant RSAs were compared with the PUL total, shoulder-, middle-, and distal-dimension scores. RESULTS: The total reachable workspace RSA correlated well with the total PUL score (Spearman ρ = -0.602; P < 0.001), and with each of the PUL dimensional scores: shoulder (ρ = -0.624; P < 0.001), middle (ρ = -0.564; P = 0.001), and distal (ρ = -0.630; P < 0.001). With quadrant RSA, reachability in a particular quadrant was closely associated with respective PUL dimensional-level function (lateral-upper quadrant for shoulder-, lateral-upper/lower quadrants for middle-, and lateral-lower quadrant for distal-level function). CONCLUSIONS: This study demonstrates concurrent validity of the reachable workspace outcome measure (RSA) with the DMD-specific upper extremity outcome measure (PUL).

Personalized Telehealth in the Future: A Global Research Agenda.

As telehealth plays an even greater role in global health care delivery, it will be increasingly important to develop a strong evidence base of successful, innovative telehealth solutions that can lead to scalable and sustainable telehealth programs. This paper has two aims: (1) to describe the challenges of promoting telehealth implementation to advance adoption and (2) to present a global research agenda for personalized telehealth within chronic disease management. Using evidence from the United States and the European Union, this paper provides a global overview of the current state of telehealth services and benefits, presents fundamental principles that must be addressed to advance the status quo, and provides a framework for current and future research initiatives within telehealth for personalized care, treatment, and prevention. A broad, multinational research agenda can provide a uniform framework for identifying and rapidly replicating best practices, while concurrently fostering global collaboration in the development and rigorous testing of new and emerging telehealth technologies. In this paper, the members of the Transatlantic Telehealth Research Network offer a 12-point research agenda for future telehealth applications within chronic disease management.

Reachable workspace reflects dynamometer-measured upper extremity strength in facioscapulohumeral muscular dystrophy.

INTRODUCTION: It is not known whether a reduction in reachable workspace closely reflects loss of upper extremity strength in facioscapulohumeral muscular dystrophy (FSHD). In this study we aimed to determine the relationship between reachable workspace and quantitative upper extremity strength measures. METHODS: Maximal voluntary isometric contraction (MVIC) testing of bilateral elbow flexion and shoulder abduction by hand-held dynamometry was performed on 26 FSHD and 27 control subjects. In addition, Kinect sensor-based 3D reachable workspace relative surface areas (RSAs) were obtained. Loading (500-g weight) effects on reachable workspace were also evaluated. RESULTS: Quantitative upper extremity strength (MVIC of elbow flexion and shoulder abduction) correlated with Kinect-acquired reachable workspace RSA (R = 0.477 for FSHD, P = 0.0003; R = 0.675 for the combined study cohort, P < 0.0001). Progressive reduction in RSA reflected worsening MVIC measures. Loading impacted the moderately weak individuals the most with additional reductions in RSA. CONCLUSIONS: Reachable workspace outcome measure is reflective of upper extremity strength impairment in FSHD.

Upper extremity 3-dimensional reachable workspace analysis in dystrophinopathy using Kinect.

INTRODUCTION: An innovative upper extremity 3-dimensional (3D) reachable workspace outcome measure acquired using the Kinect sensor is applied toward Duchenne/Becker muscular dystrophy (DMD/BMD). The validity, sensitivity, and clinical meaningfulness of this novel outcome measure are examined. METHODS: Upper extremity function assessment (Brooke scale and NeuroQOL questionnaire) and Kinect-based reachable workspace analyses were conducted in 43 individuals with dystrophinopathy (30 DMD and 13 BMD, aged 7-60 years) and 46 controls (aged 6-68 years). RESULTS: The reachable workspace measure reliably captured a wide range of upper extremity impairments encountered in both pediatric and adult, as well as ambulatory and non-ambulatory individuals with dystrophinopathy. Reduced reachable workspaces were noted for the dystrophinopathy cohort compared with controls, and they correlated with Brooke grades. In addition, progressive reduction in reachable workspace correlated directly with worsening ability to perform activities of daily living, as self-reported on the NeuroQOL. CONCLUSION: This study demonstrates the utility and potential of the novel sensor-acquired reachable workspace outcome measure in dystrophinopathy.

Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by Kinect.

INTRODUCTION: A depth-ranging sensor (Kinect) based upper extremity motion analysis system was applied to determine the spectrum of reachable workspace encountered in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Reachable workspaces were obtained from 22 individuals with FSHD and 24 age- and height-matched healthy controls. To allow comparison, total and quadrant reachable workspace relative surface areas (RSAs) were obtained by normalizing the acquired reachable workspace by each individual's arm length. RESULTS: Significantly contracted reachable workspace and reduced RSAs were noted for the FSHD cohort compared with controls (0.473 ± 0.188 vs. 0.747 ± 0.082; P < 0.0001). With worsening upper extremity function as categorized by the FSHD evaluation subscale II + III, the upper quadrant RSAs decreased progressively, while the lower quadrant RSAs were relatively preserved. There were no side-to-side differences in reachable workspace based on hand-dominance. CONCLUSIONS: This study demonstrates the feasibility and potential of using an innovative Kinect-based reachable workspace outcome measure in FSHD.

Reliability Assessment of Various Sonographic Techniques for Evaluating Carpal Tunnel Syndrome.

Objectives-The aim of this study was to determine the intra- and inter-rater reliability of sonographic measurements of the median nerve cross-sectional area in individuals with carpal tunnel syndrome and healthy control participants.Methods-The median nerve cross-sectional area was evaluated by sonography in 18 participants with carpal tunnel syndrome (18 upper extremities) and 9 control participants (18 upper extremities) at 2 visits 1 week apart. Two examiners, both blinded to the presence or absence of carpal tunnel syndrome, captured independent sonograms of the median nerve at the levels of the carpal tunnel inlet, pronator quadratus, and mid-forearm. The cross-sectional area was later measured by each examiner independently. Each also traced images that were captured by the other examiner.Results-Both the intra- and inter-rater reliability rates were highest for images taken at the carpal tunnel inlet (radiologist, r = 0.86; sonographer, r = 0.87; inter-rater, r = 0.95; all P < .0001), whereas they was lowest for the pronator quadratus (r = 0.49, 0.29, and 0.72, respectively; all P < .0001). At the mid-forearm, the intra-rater reliability was lower for both the radiologist and sonographer, whereas the inter-rater reliability was relatively high (r = 0.54, 0.55, and 0.81; all P < .0001). Tracing of captured images by different examiners showed high concordance for the median cross-sectional area at the carpal tunnel inlet (r = 0.96-0.98; P < .0001).Conclusions-The highest intra- and inter-rater reliability was found at the carpal tunnel inlet. The results also demonstrate that tracing of the median nerve cross-sectional area from captured images by different examiners does not contribute significantly to measurement variability.

The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used.

UNLABELLED: Contemporary natural history data in Duchenne muscular dystrophy (DMD) is needed to assess care recommendations and aid in planning future trials. METHODS: The Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 individuals, aged 2-28 years, with DMD in a longitudinal, observational study at 20 centers. Assessments obtained every 3 months for 1 year, at 18 months, and annually thereafter included: clinical history; anthropometrics; goniometry; manual muscle testing; quantitative muscle strength; timed function tests; pulmonary function; and patient-reported outcomes/health-related quality-of-life instruments. RESULTS: Glucocorticoid (GC) use at baseline was 62% present, 14% past, and 24% GC-naive. In those ≥6 years of age, 16% lost ambulation over the first 12 months (mean age 10.8 years). CONCLUSIONS: Detailed information on the study methodology of the CINRG DMD-NHS lays the groundwork for future analyses of prospective longitudinal natural history data. These data will assist investigators in designing clinical trials of novel therapeutics.

Upper extremity reachable workspace evaluation with Kinect.

We propose a novel low-cost method for quantitative assessment of upper extremity workspace envelope using Microsoft Kinect camera. In clinical environment there are currently no practical and cost-effective methods available to provide arm-function evaluation in three-dimensional space. In this paper we examine the accuracy of the proposed technique for workspace estimation using Kinect in comparison with a motion capture system. The experimental results show that the developed system is capable of capturing the workspace with sufficient accuracy and robustness.

mHealth application for upper extremity range of motion and reachable workspace.

We present mobile health (mHealth) applications utilizing embedded phone sensors as an angle-measuring device for upper-limb range of motion (ROM) and estimation of reachable workspace to assist in evaluation of upper limb functional capacity. Our results show that the phone can record accurate measurements, as well as provide additional functionalities for clinicians.

Consensus treatment recommendations for late-onset Pompe disease.

INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease. METHODS: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken. CONCLUSIONS: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.

Use of the Kinect sensor measured three-dimensional reachable workspace to assess the upper extremity function in older adults.

BACKGROUND: We explored the utility of Kinect sensor-based upper extremity reachable workspace measure in healthy adults aged over 65 years. METHODS: Forty-three healthy older subjects (19 men and 24 women) aged over 65 years and 22 healthy young subjects (11 men and 11 women) were included. All participants were ambulatory and perform the activities of daily living independently. Three-dimensional reachable workspace data were acquired for both arms using the Kinect sensor. We evaluated hand grip strength, manual muscle shoulder strength, and the active shoulder ranges of motion of the dominant and non-dominant sides. We assessed upper limb function using the Disabilities of Arm, Shoulder, and Hand (DASH) instrument and the health-related quality of life employing the descriptive EQ-5D-5L system. FINDINGS: The quadrant 3 relative surface area in older adults was significantly smaller than that of young adults (both dominant and non-dominant sides), while the total and quadrants 1, 2, and 4 relative surface areas did not differ between older and young adults. However, the quadrant 3 relative surface area did not correlate with the DASH or EQ5D scores. The total and quadrant 1, 2, and 4 relative surface areas of the dominant side significantly correlated with the DASH score. The quadrant 4 relative surface area of the dominant side significantly correlated with the EQ5D score. INTERPRETATION: Kinect sensor-based, three-dimensional, reachable workspace analysis may be useful to evaluate upper limb function in older adults.

Sensor acquired reachable workspace in the elderly population: A cross-sectional observational study.

The elderly population experiences a decline in upper extremity range of motion (ROM), impairing activities of daily living. The primary mode of quantification is by goniometer measurement. In this cross-sectional observation study, we investigate a sensor-acquired reachable workspace for assessing shoulder ROM decline in an elderly population in comparison to traditional measurements. Sixty-one healthy subjects aged ≥ 65 years were included and compared to a cohort of 39 younger subjects, aged 20 to 64. A sensor acquired reachable workspace using a Kinect motion capture camera measured the maximum reaching ability of both arms while in a seated position, measured in m2 and normalized to arm length to calculate a novel score defined as a relative surface area. This score approximates range of motion in the upper extremity. This measurement was compared to goniometer measurements, including active ROM in shoulder flexion and abduction. Total RSA shows moderate to strong correlation between goniometer in flexion and abduction in the dominant arm (R = 0.790 and R = 0.650, P < .001, respectively) and moderate correlations for the nondominant arm (R = 0.622 and R = 0.615, P < .001). Compared to the younger cohort, the elderly population demonstrated significantly reduced total RSA in the dominant arm (meanelderly = 0.774, SD = 0.09; meanyounger = 0.830, SD = 0.07, P < .001), with significant reductions in the upper lateral quadrant in both arms (dominant: meanelderly = 0.225, SD = 0.04; meanyounger = 0.241, SD = 0.01; P < .001; nondominant: meanelderly = 0.213, SD = 0.03; meanyounger = 0.228, SD = 0.01; P = .004). The test-retest reliability was strong for both dominant and nondominant total RSA (ICC > 0.762). The reachable workspace demonstrates promise as a simple and quick tool for clinicians to assess detailed and quantitative active shoulder ROM decline in the elderly population.

Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis.

BACKGROUND AND OBJECTIVES: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a quantitative whole-body (WB) musculoskeletal MRI (WB-MSK-MRI) protocol analyzing muscles in their entirety. This study aimed to assess WB-MSK-MRI as a potential imaging biomarker providing reliable measurements of muscle health that capture disease heterogeneity and clinically meaningful composite assessments correlating with severity and more responsive to change in clinical trials. METHODS: Participants aged 18-65 years, with genetically confirmed FSHD1, clinical severity 2 to 4 (Ricci scale, range 0-5), and ≥1 short tau inversion recovery-positive lower extremity muscle eligible for needle biopsy, enrolled at 6 sites and were imaged twice 4-12 weeks apart. Volumetric analysis of muscle fat infiltration (MFI), muscle fat fraction (MFF), and lean muscle volume (LMV) in 18 (36 total) muscles from bilateral shoulder, proximal arm, trunk, and legs was performed after automated atlas-based segmentation, followed by manual verification. A WB composite score, including muscles at highest risk for progression, and functional cross-sectional composites for correlation with relevant functional outcomes including timed up and go (TUG), FSHD-TUG, and reachable workspace (RWS), were developed. RESULTS: Seventeen participants enrolled in this study; 16 follow-up MRIs were performed at 52 days (range 36-85 days). Functional cross-sectional composites (MFF and MFI) showed moderate to strong correlations: TUG (ρ = 0.71, ρ = 0.83), FSHD-TUG (ρ = 0.73, ρ = 0.73), and RWS (left arm: ρ = -0.71, ρ = -0.53; right arm: ρ = -0.61, ρ = -0.65). WB composite variability: LMVtot, coefficient of variation (CV) 1.9% and 3.4%; MFFtot, within-subject SD (Sw) 0.5% and 1.5%; and MFItot (Sw), 0.3% and 0.4% for normal and intermediate muscles, respectively. CV and Sw were higher in intermediate (MFI ≥0.10; MFF <0.50) than in normal (MFI <0.10, MFF <0.50) muscles. DISCUSSION: We developed a WB-MSK-MRI protocol and composite measures that capture disease heterogeneity and assess muscle involvement as it correlates with FSHD-relevant clinical endpoints. Functional composites robustly correlate with functional assessments. Stability of the WB composite shows that it could be an assessment of change in therapeutic clinical trials. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that quantitative WB-MSK-MRI findings associate with FSHD1 severity measured using established functional assessments.

The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy.

BACKGROUND: Outcome measures for non-ambulant Duchenne muscular dystrophy (DMD) patients are limited, with only the Performance of the Upper Limb (PUL) approved as endpoint for clinical trials. OBJECTIVE: We assessed four outcome measures based on devices developed for the gaming industry, aiming to overcome disadvantages of observer-dependency and motivation. METHODS: Twenty-two non-ambulant DMD patients (range 8.6-24.1 years) and 14 healthy controls (HC; range 9.5-25.4 years) were studied at baseline and 16 patients at 12 months using Leap Motion to quantify wrist/hand active range of motion (aROM) and a Kinect sensor for reached volume with Ability Captured Through Interactive Video Evaluation (ACTIVE), Functional Workspace (FWS) summed distance to seven upper extremity body points, and trunk compensation (KinectTC). PUL 2.0 was performed in patients only. A stepwise approach assessed quality control, construct validity, reliability, concurrent validity, longitudinal change and patient perception. RESULTS: Leap Motion aROM distinguished patients and HCs for supination, radial deviation and wrist flexion (range p = 0.006 to <0.001). Reliability was low and the manufacturer's hand model did not match the sensor's depth images. ACTIVE differed between patients and HCs (p < 0.001), correlated with PUL (rho = 0.76), and decreased over time (p = 0.030) with a standardized response mean (SRM) of -0.61. It was appraised as fun on a 10-point numeric rating scale (median 9/10). PUL decreased over time (p < 0.001) with an SRM of -1.28, and was appraised as fun (median 7/10). FWS summed distance distinguished patients and HCs (p < 0.001), but reliability in patients was insufficient. KinectTC differed between patients and HCs (p < 0.01), but correlated insufficiently with PUL (rho = -0.69). CONCLUSIONS: Only ACTIVE qualified as potential outcome measure in non-ambulant DMD patients, although the SRM was below the commonly used threshold of 0.8. Lack of insight in technological constraints due to intellectual property and software updates made the technology behind these outcome measures a kind of black box that could jeopardize long-term use in clinical development.

Patient Sleep Quality in Acute Inpatient Rehabilitation.

BACKGROUND: Sleep is an important component of neurorehabilitation. This study evaluates sleep quality in the acute inpatient rehabilitation setting and is the first to compare sleep quality in acute rehabilitation versus the acute care hospital and home settings. OBJECTIVE: To assess patient sleep quality in the acute inpatient rehabilitation setting. DESIGN: Cross-sectional survey study. SETTING: Acute inpatient rehabilitation unit. PATIENTS: Seventy-three patients admitted to the acute rehabilitation unit participated in the study. INTERVENTIONS: A validated sleep questionnaire was provided on admission regarding sleep at home and in the acute care hospital. The questionnaire was repeated on discharge from the acute rehabilitation unit regarding sleep during their rehabilitation admission. MAIN OUTCOME MEASURES: Visual analog scale of sleep depth, falling asleep, number of awakenings, percentage of time awake, and quality of sleep were obtained through use of the Richards-Campbell Sleep Questionnaire. These values were averaged to obtain "overall sleep perception." An additional question on environmental noise was added. Scores ranged from 0 for "worst sleep possible" to 100 for "best sleep possible." RESULTS: Patients reported significantly better sleep in all domains and overall in the acute rehabilitation unit compared to the acute care hospital, with the exception of percentage of time awake. Patients also reported significantly better sleep depth but worse noise in the acute rehabilitation unit when compared to home. Similarly, patients reported significantly better sleep in all domains and overall at home in comparison to the acute care hospital with the exception of percentage of time awake. CONCLUSIONS: Patient in the acute rehabilitation unit experience sleep quality that matches their experience at home and exceeds that in the hospital.