Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy

Abstract

As the potential for a treatment of Duchenne muscular dystrophy (DMD) grows, the need for methods for the early diagnosis of DMD becomes more and more important. Clinical experiences suggest that children with DMD will show some lack of motor ability in the early stage when compared with children at the same age, especially in balance and coordination abilities. Is it possible to quantify the coordination differences between DMD and typically developing (TD) children to achieve the goal of screening for DMD diseases? In this study, we introduced a Local Manifold Structure Mapping approach in phase space and extracted a novel index, relative coupling coefficient (RCC), from gait pattern signals, which were acquired by wearable accelerometers to evaluate the coordination of children with DMD during a walking task. Furthermore, we compared the RCC of 100 children with DMD and 100 TD children in four different age groups and verified the feasibility and reliability of the proposed indices to distinguish children with TD from DMD. T-test results show that, for all age groups, children of the same age with DMD and TD show significant differences in RCC (p < 0.001). Moreover, RCC comprehensively reflects that the coordination ability of DMD patients under walking tasks gradually decreases with age, which is consistent with clinical experience. As a functional biomarker extracted in the phase space of the gait data, the proposed coupling degree index RCC could sensitively distinguish between DMD and TD children at the same age and provide alternative insights and potentially valuable tools for the screening of DMD.

Wearable Inertial Devices in Duchenne Muscular Dystrophy: A Scoping Review

“…Van der Geest et al [39] Strong and significant correlation between objective outcomes and the clinical score Small sample size, not all data available for all patients, no specific inclusion criteria for the selection of patients Haberkamp et al [40] Stride Velocity 95th Centile continuously monitored in home environment was recognized as a new endpoint in DMD patients by European regulators -Siegel et al [41] Non-ambulatory participants had significantly lower sleep efficiencies, less wake time after sleep onset, and less daytime activity than those in the ambulatory group. There were no significant correlations between rest-activity data and SDSC and PedsQL questionnaires Small sample size and limited statistical power to detect significant association with clinical data Ann et al [42] The proposed RCC is a sensitive index to distinguish children with DMD and controls at the same age in terms of motor coordination…”

“…Ann and colleagues [42] proposed a new relative coupling coefficient RCC to evaluate walking coordination and to distinguish between DMD and control children. 100 DMD patients and 100 control children were involved in the experimental study.…”

“…Instruments' small dimensions and their lack of invasiveness contribute to acceptance of wearing them for a long interval of time for both patients and caregivers. Several typologies of wearable devices were used in the current research (Table 2), both customized systems [32,33] and commercial products [41,42,47,50]. The configuration of a 3-axis accelerometer was shown to be the most widespread in the past, but in the last few years studies have proposed the use of inertial sensors, including accelerometers, gyroscopes, and magnetometers.…”

“…Most of the studies used the accelerometric measurement system as actigraphy, in particular to monitor patients' physical activity levels [34,43], to differentiate the type of activity performed (walking, sitting, lying) [33], to distinguish between sedentary and active behavior [36,50], to represent sleep quality [41,53], and to assess the total amount of steps during walking in ambulatory subjects [45,46]. The integration of a 3-axis gyroscope and a 3-axis magnetometer contributes to the definition and calculation of objective outcomes suitable for measuring the human segment's orientation and for describing more complex movements, also involving the upper body part of the human [35,39,42].…”

Epigenetic modifications in muscle regeneration and progression of Duchenne muscular dystrophy

“…Duchenne muscular dystrophy (DMD, OMIM 310200), the most severe and the most common adult form of muscular dystrophy in humans, is caused by a lack of functional dystrophin due to mutations in the dystrophin gene (DMD) [1,2]. This largest gene in the human genome (> 2.5 Mbp) gives rise to several transcripts that encode protein isoforms ranging in size from 40 to 427 kDa, which are variously distributed in many cell types [3][4][5][6][7][8][9][10][11].…”