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Abstract Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. Methods Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ). Results Of 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted. Conclusions The EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain.

Human motion tracking is a valuable task for many medical applications. Marker-based optoelectronic systems are considered the gold standard in human motion tracking. However, their use is not always feasible in clinics and industrial environments. On the other hand, marker-less sensors became valuable tools, as they are inexpensive, noninvasive and easy to use. However, their accuracy can depend on many factors including sensor positioning, light conditions and body occlusions. In this study, following previous works on the feasibility of marker-less systems for human motion monitoring, we investigate the performance of the Microsoft Azure Kinect sensor in computing kinematic and dynamic measurements of static postures and dynamic movements. According to our knowledge, it is the first time that this sensor is compared with a Vicon marker-based system to assess the best camera positioning while observing the upper body part movements of people performing several tasks. Twenty-five healthy volunteers were monitored to evaluate the effects of the several testing conditions, including the Azure Kinect positions, the light conditions, and lower limbs occlusions, on the tracking accuracy of kinematic, dynamic, and motor control parameters. From the statistical analysis of the performed measurements, the camera in the frontal position was the most reliable, the lighting conditions had almost no effects on the tracking accuracy, while the lower limbs occlusion worsened the accuracy of the upper limbs. The assessment of human static postures and dynamic movements based on experimental data proves the feasibility of applying the Azure Kinect to the biomechanical monitoring of human motion in several fields.

Recent human-centered developments in the industrial field (Industry 5.0) lead companies and stakeholders to ensure the wellbeing of their workers with assessments of upper limb performance in the workplace, with the aim of reducing work-related diseases and improving awareness of the physical status of workers, by assessing motor performance, fatigue, strain and effort. Such approaches are usually developed in laboratories and only at times they are translated to on-field applications; few studies summarized common practices for the assessments. Therefore, our aim is to review the current state-of-the-art approaches used for the assessment of fatigue, strain and effort in working scenarios and to analyze in detail the differences between studies that take place in the laboratory and in the workplace, in order to give insights on future trends and directions. A systematic review of the studies aimed at evaluating the motor performance, fatigue, strain and effort of the upper limb targeting working scenarios is presented. A total of 1375 articles were found in scientific databases and 288 were analyzed. About half of the scientific articles are focused on laboratory pilot studies investigating effort and fatigue in laboratories, while the other half are set in working places. Our results showed that assessing upper limb biomechanics is quite common in the field, but it is mostly performed with instrumental assessments in laboratory studies, while questionnaires and scales are preferred in working places. Future directions may be oriented towards multi-domain approaches able to exploit the potential of combined analyses, exploitation of instrumental approaches in workplace, targeting a wider range of people and implementing more structured trials to translate pilot studies to real practice.

Abstract Background Patients with cerebellar malformations exhibit not only movement problems, but also important deficits in social cognition. Thus, rehabilitation approaches should not only involve the recovery of motor function but also of higher-order abilities such as processing of social stimuli. In keeping with the general role of the cerebellum in anticipating and predicting events, we used a VR-based rehabilitation system to implement a social cognition intensive training specifically tailored to improve predictive abilities in social scenarios (VR-Spirit). Methods/design The study is an interventional randomised controlled trial that aims to recruit 42 children, adolescents and young adults with congenital cerebellar malformations, randomly allocated to the experimental group or the active control group. The experimental group is administered the VR-Spirit, requiring the participants to compete with different avatars in the reaching of recreational equipment and implicitly prompting them to form expectations about their playing preference. The active control group participates in a VR-training with standard games currently adopted for motor rehabilitation. Both trainings are composed by eight 45-min sessions and are administered in the GRAIL VR laboratory (Motekforce Link, Netherlands), an integrated platform that allows patients to move in natural and attractive VR environments. An evaluation session in VR with the same paradigm used in the VR-Spirit but implemented in a different scenario is administered at the beginning (T0) of the two trainings (T1) and at the end (T2). Moreover, a battery of neurocognitive tests spanning different domains is administered to all participants at T0, T2 and in a follow-up session after 2 months from the end of the two trainings (T3). Discussion This study offers a novel approach for rehabilitation based on specific neural mechanisms of the cerebellum. We aim to investigate the feasibility and efficacy of a new, intensive, social cognition training in a sample of Italian patients aged 7–25 years with congenital cerebellar malformations. We expect that VR-Spirit could enhance social prediction ability and indirectly improve cognitive performance in diverse domains. Moreover, through the comparison with a VR-active control training we aim to verify the specificity of VR-Spirit in improving social perception skills. Trial registration ISRCTN, ID: ISRCTN 22332873. Retrospectively registered on 12 March 2018.

During the COVID-19 outbreak, we experienced the suspension of both work-related and spare activities, with the closure of shops, companies, services, as well as schools. Children probably are the ones who have suffered the most from this situation, due to the limited socialization with peers and boredom experienced at home. In this context, schools and childhood services tried to relieve the negative effects brought by the pandemic through actions aimed at actively engaging students and their parents in promoting child development and wellbeing. Therefore, several worldwide actions have been implemented to guarantee educational continuity. However, most of these actions targeted 3–18years old children/adolescents, while the subgroup 0–3 was rarely included. Cooperativa Sociale Aeris, a social enterprise based in northern Italy that deals with socio-educational and welfare services, took several measures to overcome problems resulting from the closure of its services dedicated to 0–3 aged children. In this manuscript, we depict how Aeris kept engaged children and their parents, reporting families’ evaluation on the actions taken. For assessing their proposed activities, Aeris promptly distributed an on-line survey to the families in May 2020. The answers showed that the organized activities had a positive impact on both children and parents, diminishing the sense of loneliness and boredom for the former, and acting as an important support for the latter. Therefore, this manuscript could work as a reference for policy-makers and managers of educational services in implementing activities and initiatives during home schooling.

Although anatomical brain hemispheric asymmetries have been clearly documented in the infant brain, findings concerning functional hemispheric specialization have been inconsistent. The present report aims to assess whether bilaterally symmetric synchronous activity between the two hemispheres is a characteristic of the infant brain. To asses cortical bilateral synchronicity, we used decomposition by independent component analysis (ICA) of high-density electroencephalographic (EEG) data collected in an auditory passive oddball paradigm. Decompositions of concatenated 64-channel EEG data epochs from each of 34 typically developing 6-month-old infants and from 18 healthy young adults participating in the same passive auditory oddball protocol were compared to characterize differences in functional brain organization between early life and adulthood. Our results show that infant EEG decompositions comprised a larger number of independent component (IC) effective source processes compatible with a cortical origin and having bilaterally near-symmetric scalp projections (13.8% of the infant data ICs presented a bilateral pattern vs. 4.3% of the adult data ICs). These IC projections could be modeled as the sum of potentials volume-conducted to the scalp from synchronous locally coherent field activities in corresponding left and right cortical source areas. To conclude, in this paradigm, source-resolved infant brain EEG exhibited more bilateral synchronicity than EEG produced by the adult brain, supporting the hypothesis that more strongly unilateral and likely more functionally specialized unihemispheric cortical field activities are concomitants of brain maturation.

In the last few years, there has been increased interest in the preservation of physical and mental health of workers that cooperate with robots in industrial contexts, such as in the framework of the European H2020 Mindbot Project. Since biomechanical analysis contributes to the characterization of the subject interacting with a robotic setup and platform, we tested different speed and loading conditions in a simulated environment to determine upper-limb optimal performance. The simulations were performed starting from laboratory data of people executing upper-limb frontal reaching movements, by scaling the motion law and imposing various carried loads at the hand. The simulated velocity ranged from 20% to 200% of the original natural speed, with step increments of 10%, while the hand loads were 0, 0.5, 1, and 2 kg, simulating carried objects. A 3D inverse kinematic and dynamic model was used to compute upper-limb kinematics and dynamics, including shoulder flexion, shoulder abduction, and elbow flexion. An optimal range of velocities was found in which the expended energy was lower. Interestingly, the optimal speed corresponding to lower exerted torque and energy decreased when the load applied increased. Lastly, we introduced a preliminary movement inefficiency index to evaluate the deviation of the power and expended energy for the shoulder flexion degree of freedom when not coinciding with the minimum energy condition. These results can be useful in human–robot collaboration to design minimum-fatigue collaborative tasks, tune setup parameters and robot behavior, and support physical and mental health for workers.

Event-related mu-rhythm activity has become a common tool for the investigation of different socio-cognitive processes in pediatric populations. The estimation of the mu-rhythm desynchronization/synchronization (mu-ERD/ERS) in a specific task is usually computed in relation to a baseline condition. In the present study, we investigated the effect that different types of baseline might have on toddler mu-ERD/ERS related to an action observation (AO) and action execution (AE) task. Specifically, we compared mu-ERD/ERS values computed using as a baseline: (1) the observation of a static image (BL1) and (2) a period of stillness (BL2). Our results showed that the majority of the subjects suppressed the mu-rhythm in response to the task and presented a greater mu-ERD for one of the two baselines. In some cases, one of the two baselines was not even able to produce a significant mu-ERD, and the preferred baseline varied among subjects even if most of them were more sensitive to the BL1, thus suggesting that this could be a good baseline to elicit mu-rhythm modulations in toddlers. These results recommended some considerations for the design and analysis of mu-rhythm studies involving pediatric subjects: in particular, the importance of verifying the mu-rhythm activity during baseline, the relevance of single-subject analysis, the possibility of including more than one baseline condition, and caution in the choice of the baseline and in the interpretation of the results of studies investigating mu-rhythm activity in pediatric populations.

Wearable sensors are becoming increasingly popular for complementing classical clinical assessments of gait deficits. The aim of this review is to examine the existing knowledge by systematically reviewing a large number of papers focusing on the use of wearable inertial sensors for the assessment of gait during the 6-minute walk test (6MWT), a widely recognized, simple, non-invasive, low-cost and reproducible exercise test. After a systematic search on PubMed and Scopus databases, two raters evaluated the quality of 28 full-text articles. Then, the available knowledge was summarized regarding study design, subjects enrolled (number of patients and pathological condition, if any, age, male/female ratio), sensor characteristics (type, number, sampling frequency, range) and body placement, 6MWT protocol and extracted parameters. Results were critically discussed to suggest future directions for the use of inertial sensor devices in the clinics.

Virtual reality (VR) creates computer-generated virtual environments where users can experience and interact in a similar way as they would do in real life. VR systems are increasingly being used for rehabilitation goals, mainly with adults, but also with children, extending their application to the educational field. This report concerns a study of the impact of a semi-immersive VR system in a group of 25 children in a kindergarten context. The children were involved in several different games and activity types, specifically developed with the aim of learning specific skills and foster team collaboration. Their reactions and behaviors were recorded by their teachers and by trained psychologists through observation grids addressing task comprehension, participation and enjoyment, interaction and cooperation, conflict, strategic behaviors, and adult-directed questions concerning the activity, the device or general help requests. The grids were compiled at the initial, intermediate and final timepoint during each session. The results show that the activities are easy to understand, enjoyable, and stimulate strategic behaviors, interaction and cooperation, while they do not elicit the need for many explanations. These results are discussed within a neuroconstructivist educational framework and the suitability of semi-immersive, virtual-reality-based activities for cognitive empowerment and rehabilitation purposes is discussed.

Simultaneous electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) allow for a non-invasive investigation of cerebral functions with high temporal and spatial resolution. The main challenge of such integration is the removal of the pulse artefact (PA) that affects EEG signals recorded in the magnetic resonance (MR) scanner. Often applied techniques for this purpose are Optimal Basis Set (OBS) and Independent Component Analysis (ICA). The combination of OBS and ICA is increasingly used, since it can potentially improve the correction performed by each technique separately. The present study is focused on the OBS-ICA combination and is aimed at providing the optimal ICA parameters for PA correction in resting-state EEG data, where the information of interest is not specified in latency and amplitude as in, for example, evoked potential. A comparison between two intervals for ICA calculation and four methods for marking artefactual components was performed. The performance of the methods was discussed in terms of their capability to 1) remove the artefact and 2) preserve the information of interest. The analysis included 12 subjects and two resting-state datasets for each of them. The results showed that none of the signal lengths for the ICA calculation was highly preferable to the other. Among the methods for the identification of PA-related components, the one based on the wavelets transform of each component emerged as the best compromise between the effectiveness in removing PA and the conservation of the physiological neuronal content.