Evan de Bie

The 6-Minute Walk Test and Person-Reported Outcomes in Boys with Duchenne Muscular Dystrophy and Typically Developing Controls: Longitudinal Comparisons and Clinically-Meaningful Changes Over One Year.

Introduction: Data is currently lacking anchoring a 30-meter longitudinal change in walking ability by 6-minute walk test (6MWT) in Duchenne muscular dystrophy as a minimal clinically important difference and “clinically meaningful” person-reported outcomes (PROs) at differing levels of ambulatory ability. Methods: We describe correlation between measures, 1-year change in measures, and correlation of 1-year changes between measures for the six-minute walk test (6MWT), 10-meter run/walk velocity, PedsQL and POSNA Pediatric Outcomes Data Collection Instrument (PODCI) in 24 4-12 year old. ambulatory DMD and 36 typical controls, and determine if minimal clinically important differences (MCID) of PROs contribute to different estimates of 6-minute walk distance (6MWD) change at differing levels of ability. Results: PedsQL total and physical function and PODCI global, transfer/mobility and sports/physical function PROs demonstrated significant differences between DMD and controls (p<0.00001). In DMD, 6MWD and 10-meter run/walk velocity were correlated with PODCI domain scores, with the transfer/mobility scale showing the strongest relationship (r=0.79 and r=0.76). In DMD, 6MWD distance and 10-meter run/walk velocity weakly correlated with PedsQL domain scores. In DMD, 6MWD, 10-meter run/walk velocity, and PODCI global and transfer and basic mobility demonstrated significant one-year change and exceeded the amount of change representing MCID. In DMD, 6MWD change highly correlated with change in PODCI global and PODCI transfer/mobility scores (r=0.76 and r=0.93). PODCI global and PODCI transfer/mobility scales provided the best estimates of 6MWT performance. A “meaningful” 4.5 point change in a low PODCI transfer / basic mobility score of 30 to 34.5 was associated with a 5.6m 6MWD change from 150.3 to 155.9m. At PODCI levels closer to normative levels for healthy controls, the change in 6MWD distance associated with a “meaningful” change in PODCI scores was almost 46m. Discussion: At lower levels of function, smaller increases in 6MWD result in meaningful change in quality of life (QoL) instrument scores. At higher levels of function, larger increases may be necessary to achieve the same QoL change score.

Sex, puberty, and the timing of sleep EEG measured adolescent brain maturation

The steep adolescent decline in the slow wave (delta, 1–4 Hz) electroencephalogram (EEG) of nonrapid eye movement (NREM) sleep is a dramatic maturational change in brain electrophysiology thought to be driven by cortical synaptic pruning. A perennial question is whether this change in brain electrophysiology is related to sexual maturation. Applying Gompertz growth models to longitudinal data spanning ages 9–18 y, we found that the timing of the delta decline was significantly (P < 0.0001) linked to timing of pubertal maturation. This timing relation remained significant when sex differences in the timing of the delta decline were statistically controlled. Sex differences and the relation to the timing of puberty jointly explained 67% of the between-subject variance in the timing of the delta decline. These data provide a demonstration of a temporal relation between puberty and an electrophysiological marker of adolescent brain development. They can guide research into whether the neuroendocrine events of puberty are mechanistically linked to cortical maturation or whether, instead, the two maturational processes are parallel but independent programs of human ontogenesis.

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 individuals 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. Muscle Nerve 51: 168–175, 2015

Validity and reliability of smartphone magnetometer-based goniometer evaluation of shoulder abduction – A pilot study

BACKGROUND Goniometers are commonly used by physical therapists to measure range-of-motion (ROM) in the musculoskeletal system. These measurements are used to assist in diagnosis and to help monitor treatment efficacy. With newly emerging technologies, smartphone-based applications are being explored for measuring joint angles and movement. OBJECTIVE This pilot study investigates the intra- and inter-rater reliability as well as concurrent validity of a newly-developed smartphone magnetometer-based goniometer (MG) application for measuring passive shoulder abduction in both sitting and supine positions, and compare against the traditional universal goniometer (UG). DESIGN This is a comparative study with repeated measurement design. METHODS Three physical therapists utilized both the smartphone MG and a traditional UG to measure various angles of passive shoulder abduction in a healthy subject, whose shoulder was positioned in eight different positions with pre-determined degree of abduction while seated or supine. Each therapist was blinded to the measured angles. Concordance correlation coefficients (CCCs), Bland-Altman plotting methods, and Analysis of Variance (ANOVA) were used for statistical analyses. RESULTS Both traditional UG and smartphone MG were reliable in repeated measures of standardized joint angle positions (average CCC > 0.997) with similar variability in both measurement tools (standard deviation (SD) ± 4°). Agreement between the UG and MG measurements was greater than 0.99 in all positions. CONCLUSION Our results show that the smartphone MG has equivalent reliability compared to the traditional UG when measuring passive shoulder abduction ROM. With concordant measures and comparable reliability to the UG, the newly developed MG application shows potential as a useful tool to assess joint angles.

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. Muscle Nerve 52:344–355, 2015

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). Muscle Nerve 53: 545–554, 2016

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 individuals 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. Muscle Nerve 53: 234–241, 2016

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. Muscle Nerve 52: 948–955, 2015

Upper extremity 3D 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. Muscle Nerve 52:344–355, 2015

Longitudinal evaluation of upper extremity reachable workspace in ALS by Kinect sensor

Abstract Our objective was to evaluate longitudinal changes in Microsoft Kinect measured upper extremity reachable workspace relative surface area (RSA) versus the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), ALSFRS-R upper extremity sub-scale and Forced Vital Capacity (FVC) in a cohort of patients diagnosed with amyotrophic lateral sclerosis (ALS). Ten patients diagnosed with ALS (ages 52–76 years, ALSFRS-R: 8–41 at entry) were tested using single 3D depth sensor, Microsoft Kinect, to measure reachable workspace RSA across five visits spanning one year. Changes in RSA, ALSFRS-R, ALSFRS-R upper extremity sub-scale, and FVC were assessed using a linear mixed model. Results showed that upper lateral quadrant RSA declined significantly in one year by approximately 19% (p <0.01) while all other quadrants and total RSA did not change significantly in this time-period. Simultaneously, ALSFRS-R upper extremity sub-scale worsened significantly by 25% (p <0.01). In conclusion, upper extremity reachable workspace RSA as a novel ALS outcome measure is capable of objectively quantifying declines in upper extremity ability over time in patients with ALS with more granularity than other common outcome measures. RSA may serve as a clinical endpoint for the evaluation of upper extremity targeted therapeutics.