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Background Cognitive and behavioural symptoms due to involvement of the central nervous system (CNS) are among the main clinical manifestations of Myotonic Dystrophy type 1 (DM1). Such symptoms affect patients’ quality of life and disease awareness, impacting on disease prognosis by reducing compliance to medical treatments. Therefore, CNS is a key therapeutic target in DM1. Deeper knowledge of DM1 pathogenesis is prompting development of potential disease-modifying therapies: as DM1 is a rare, multisystem and slowly progressive disease, there is need of sensitive, tissue-specific prognostic and monitoring biomarkers in view of forthcoming clinical trials. Circulating Neurofilament light chain (NfL) levels have been recognized as a sensitive prognostic and monitoring biomarker of neuroaxonal damage in various CNS disorders. Methods We performed a cross-sectional study in a cohort of 40 adult DM1 patients, testing if serum NfL might be a potential biomarker of CNS involvement also in DM1. Moreover, we collected cognitive data, brain MRI, and other DM1-related diagnostic findings for correlation studies. Results Mean serum NfL levels resulted significantly higher in DM1 (25.32 ± 28.12 pg/ml) vs 22 age-matched healthy controls (6.235 ± 0.4809 pg/ml). Their levels positively correlated with age, and with one cognitive test (Rey’s Auditory Verbal learning task). No correlations were found either with other cognitive data, or diagnostic parameters in the DM1 cohort. Conclusions Our findings support serum NfL as a potential biomarker of CNS damage in DM1, which deserves further evaluation on larger cross-sectional and longitudinal studies to test its ability in assessing brain disease severity and/or progression.

Reach&grasp requires highly coordinated activation of different brain areas. We investigated whether reach&grasp kinematics is associated to EEG-based networks changes. We enrolled 10 healthy subjects. We analyzed the reach&grasp kinematics of 15 reach&grasp movements performed with each upper limb. Simultaneously, we obtained a 64-channel EEG, synchronized with the reach&grasp movement time points. We elaborated EEG signals with EEGLAB 12 in order to obtain event related synchronization/desynchronization (ERS/ERD) and lagged linear coherence between Brodmann areas. Finally, we evaluated network topology via sLORETA software, measuring network local and global efficiency (clustering and path length) and the overall balance (small-worldness). We observed a widespread ERD in α and β bands during reach&grasp, especially in the centro-parietal regions of the hemisphere contralateral to the movement. Regarding functional connectivity, we observed an α lagged linear coherence reduction among Brodmann areas contralateral to the arm involved in the reach&grasp movement. Interestingly, left arm movement determined widespread changes of α lagged linear coherence, specifically among right occipital regions, insular cortex and somatosensory cortex, while the right arm movement exerted a restricted contralateral sensory-motor cortex modulation. Finally, no change between rest and movement was found for clustering, path length and small-worldness. Through a synchronized acquisition, we explored the cortical correlates of the reach&grasp movement. Despite EEG perturbations, suggesting that the non-dominant reach&grasp network has a complex architecture probably linked to the necessity of a higher visual control, the pivotal topological measures of network local and global efficiency remained unaffected.

The use of quantitative methods to analyze the loss in gait smoothness, an increase in movement intermittency which is a distinguishing hallmark of motor deficits in stroke patients, has gained considerable attention in recent years. In the literature, the spectral arc length (SPARC), as well as metrics based on the measurement of the jerk, such as the log dimensionless jerk (LDLJ), are currently employed to assess smoothness. However, the optimal measure for evaluating the smoothness of walking in stroke patients remains unknown. Here, we investigated the smoothness of the body’s center of mass (BCoM) trajectory during gait, using an optoelectronic system, in twenty-two subacute and eight chronic patients before and after a two-month rehabilitation program. The two measures were evaluated for their discriminant validity (ability to differentiate the smoothness of the BCoM trajectory calculated on the cycle of the affected and unaffected limb, and between subacute and chronic patients), validity (correlation with clinical scales), and responsiveness to the intervention. According to our findings, the LDLJ outperformed the SPARC in terms of the examined qualities. Based on data gathered using an optoelectronic system, we recommend using the LDLJ rather than the SPARC to investigate the gait smoothness of stroke patients.

Background Stroke, the incidence of which increases with age, has a negative impact on motor and cognitive performance, quality of life, and the independence of the person and his or her family, leading to a number of direct and indirect costs. Motor recovery is essential, especially in elderly patients, to enable the patient to be independent in activities of daily living and to prevent falls. Several studies have shown how robotic training associated with physical therapy influenced functional and motor outcomes of walking after stroke by improving endurance and walking strategies. Considering data from previous studies and patients’ needs in gait and balance control, we hypothesized that robot-assisted balance treatment associated with physical therapy may be more effective than usual therapy performed by a physical therapist in terms of improving static, dynamic balance and gait, on fatigue and cognitive performance. Methods This is an interventional, single-blinded, preliminary randomized control trial. Twenty-four patients of both sexes will be recruited, evaluated, and treated at the UOC Rehabilitation and Physical Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome from January to December 2022. Patients will be randomized into two groups: the experimental group will perform specific rehabilitation for balance disorder using the Hunova® robotic platform (Movendo Technology srl, Genoa, IT) for 3 times a week, for 4 weeks (12 total sessions), and for 45 min of treatment, in addition to conventional treatment, while the conventional group (GC) will perform only conventional treatment as per daily routine. All patients will undergo clinical and instrumental evaluation at the beginning and end of the 4 weeks of treatment. Conclusions The study aims to evaluate the improvement in balance, fatigue, quality of life, and motor and cognitive performance after combined conventional and robotic balance treatment with Hunova® (Movendo Technology srl, Genoa, IT) compared with conventional therapy alone. Robotic assessment to identify the most appropriate and individualized rehabilitation treatment may allow reducing disability and improving quality of life in the frail population. This would reduce direct and indirect social costs of care and treatment for the National Health Service and caregivers. Trial registration ClinicalTrials.gov NCT05280587. Registered on March 15, 2022.

Background Stroke units provide patients with a multiparametric monitoring of vital functions, while no instruments are actually available for a continuous monitoring of patients motor performance. Our aim was to develop an actigraphic index able both to identify the paretic limb and continuously monitor the motor performance of stroke patients in the stroke unit environment. Methods Twenty consecutive acute stroke patients (mean age 69.2 years SD 10.1, 8 males and 12 females) and 17 bed-restrained patients (mean age 70.5 years SD 7.3, 7 males and 10 females) hospitalized for orthopedic diseases of the lower limbs, but not experiencing neurological symptoms, were enrolled. This last group represented our control group. The motor activity of arms was recorded for 24 h using two programmable actigraphic systems showing off as wrist-worn watches. The firmware segmented the acquisition in epochs of 1 minute and for each epoch calculates two motor activity indices: MAe1 (Epoch-related Motor Activity index) and MAe2 (Epoch-related Motor Activity index 2). MAe1 is defined as the standard deviation of the acceleration module and MAe2 as the module of the standard deviation of acceleration components. To describe the 24 h motor performance of each limb, we calculated the mean value of MAe1 and MAe2 (respectively MA1_24h and MA2_24h). Then we obtained two Asymmetry Rate Indices: AR1_24h and AR2_24h to show the motor activity prevalence. AR1_24h refers to the asymmetry index between the values of MAe1 of both arms and AR2_24h to MAe2 values. The stroke patients were clinically evaluated by NIHSS at the beginning (NIHSST0) and at the end (NIHSST1) of the 24 h actigraphic recordings. Results Both MA1_24h and MA2_24h indices were smaller in the paretic than in the unaffected arm (respectively p = 0.004 and p = 0.004). AR2_24h showed a better capability (95% of paretic arms correctly identified, Phi Coefficient: 0.903) to discriminate the laterality of the clinical deficit than AR1_24h (85% of paretic arms correctly identified, Phi Coefficient: 0,698). We also found that AR1_24h did not differ between the two groups of patients while AR2_24h was greater in stroke patients than in controls and positively correlated with NIHSS total scores (r: 0.714, p p Conclusions Our data show that actigraphic monitoring of upper limbs can detect the laterality of the motor deficit and measure the clinical severity. These findings suggest that the above described actigraphic system could implement the existing multiparametric monitoring in stroke units.

Background: It is often challenging to formulate a reliable prognosis for patients with acute ischemic stroke. The most accepted prognostic factors may not be sufficient to predict the recovery process. In this view, describing the evolution of motor deficits over time via sensors might be useful for strengthening the prognostic model. Our aim was to assess whether an actigraphic-based parameter (Asymmetry Rate Index for the 24 h period (AR2_24 h)) obtained in the acute stroke phase could be a predictor of a 90 d prognosis. Methods: In this observational study, we recorded and analyzed the 24 h upper limb movement asymmetry of 20 consecutive patients with acute ischemic stroke during their stay in a stroke unit. We recorded the motor activity of both arms using two programmable actigraphic systems positioned on patients’ wrists. We clinically evaluated the stroke patients by NIHSS in the acute phase and then assessed them across 90 days using the modified Rankin Scale (mRS). Results: We found that the AR2_24 h parameter positively correlates with the 90 d mRS (r = 0.69, p &lt, 0.001). Moreover, we found that an AR2_24 h &gt, 32% predicts a poorer outcome (90 d mRS &gt, 2), with sensitivity = 100% and specificity = 89%. Conclusions: Sensor-based parameters might provide useful information for predicting ischemic stroke prognosis in the acute phase.

Background End-effector robots allow intensive gait training in stroke subjects and promote a successful rehabilitation. A comparison between conventional and end-effector Robot-Assisted Gait Training (RAGT) in subacute stroke patients is needed. Objective To investigate the efficacy of end-effector RAGT in subacute stroke patients. Methods Twenty-six subacute stroke patients were divided into two group: 14 patients performed RAGT (RG); 12 patients performed conventional gait training (CG). Clinical assessment and gait analysis were performed at the beginning (T0) and at the end (T1) of the rehabilitation. Results The RG revealed a significant improvement in body function, activities, participation scales, and in the distance measured with the 6 MWT. The affected lower limb's spasticity significantly decreased at T1. In gait analysis, RG showed significantly increases in many parameters. The CG significantly improved clinical assessments but showed no significant changes in gait parameters. Statistically significant differences between RG and CG were found in MRC-HE, TCT, 10 MWT, 6 MWT, and TUG. No significant difference between groups was registered in gait kinematics. Conclusions Both rehabilitation treatments produce promising effects in subacute stroke patients. RAGT device offers a more intensive, controlled, and physiological gait training and significantly improved deambulation.

Background The use of high heels is widespread in modern society in professional and social contests. Literature showed that wearing high heels can produce injurious effects on several structures from the toes to the pelvis. No studies considered shoe length as an impacting factor on walking with high heels. Research question The aim of this study is to evaluate walking parameters in young healthy women wearing high heels, considering not only the heel height but also the foot/shoe size. Methods We evaluate spatio-temporal, kinematic and kinetic data, collected using a 8-camera motion capture system, in a sample of 21 healthy women in three different walking conditions: 1) barefoot, 2) wearing 12 cm high heel shoes independently from shoe size, and 3) wearing shoes with heel height based on shoe size, keeping the ankles’ plantar flexion angle constant. The main outcome measures were: spatio-temporal parameters, gait harmony measurement, range of motion, flexion and extension maximal values, power and moment of lower limb joints. Results Comparing the three walking conditions, the Mixed Anova test, showed significant differences between both high heeled conditions (variable and constant height) and barefoot in spatio-temporal, kinematic and kinetic parameters. Significance Regardless of the shoe size, both heeled conditions presented a similar gait pattern and were responsible for negative effects on walking parameters. Considering our results and the relevance of the heel height, further studies are needed to identify a threshold, over which it is possible to observe that wearing high heels could cause harmful effects, independently from the foot/shoe size.

Background The gait recovery is a realist goal in the rehabilitation of almost Stroke patients. Over the last years, the introduction of robotic technologies in gait rehabilitation of stroke patients has had a greatest interest. Objective The aim of this study was to evaluate efficacy of Robotic Gait Training (RGT) in chronic stroke patients. Methods Fourteen chronic stroke patients were divided into two groups. Six patients received RGT, eight patients received traditional gait rehabilitation. Patients were assessed with clinical scales, as well as with gait analysis, at the beginning and at the end of the treatment. Results Significant changes in some clinical scales for both the groups were detected. In the robotic group, patients showed higher percentage changes in the MRC scale (p = 0.020), in the 6MWT (p = 0.043) and in the Ashworth scale (hip: p = 0.008; knee: p = 0.043; ankle: p = 0.043) when compared with the traditional group. With respect to the gait analysis, we did not found any difference neither in the within-group analysis, nor in the between-group analysis. Conclusions Both rehabilitation treatments do not change the compensatory strategies in chronic patients but the RGT offers to the patients a more intensive and controlled gait training increasing the gait endurance and decreasing spasticity in the lower limb.

Objective Although deficit of coordination between the upper and lower body segments might play an important role in impairing gait and stability in ataxic patients, this deficit has not been investigated in subjects with ataxia so far. To evaluate the coordination between trunk and thigh in a sample of patients with ataxia compared with healthy controls and to correlate the coordination measures with the clinical severity. Design Prospective observational study. Subjects Sixteen patients with degenerative cerebellar ataxia and sixteen age- and sex-matched controls were studied. Methods We assessed the coordination on the sagittal plane between trunk and thigh, considered as rigid segments, by the continuous relative phase (CRP) method. We used the coefficient of multiple correlation (CMC) to measure the within-subject (CMCWS) variability, and the SARA scale to assess clinical severity. Results CRP curves are dissimilar between ataxic patients and controls, the former showing a chaotic behavior compared to the well-shaped CRP curves observed in the latter. Trunk-thigh coordination has a higher within-subject variability in ataxic patients (median CMCWS: 0.53 for patients, 0.89 for controls, p Conclusions Ataxia shows a deficit of spatio-temporal coordination between trunk and thigh. Such a deficit is correlated with the degree of the clinical impairment indicating an important role of inter-segmental coordination in determining the severity of ataxia.

OBJECTIVES Back pain is one of the major problems for the public health system in the western world. The purposes of this study were to assess back pain in a large cohort of adolescents; to evaluate the prevalence, intensity, and features; and obtain information about drug management of this symptom. METHODS One thousand four hundred seventy-one healthy students aged 14 to 19 years were enrolled in the study. The subjects underwent a face-to-face interview using an ad hoc questionnaire, the Numeric Rating Scale, the Neuropathic Pain Symptom Inventory, and the Short-Form 36 questionnaire. RESULTS Sixty-eight percent of adolescents reported moderate to severe pain, with a higher prevalence of moderate/severe pain in female. The intensity of pain was higher (P < 0.001) in females than in men. A correlation was found between pain and quality of life. Considering the adolescents with severe pain, 21.6% requested a doctor's opinion, and 18% used analgesics (63.2% of them without a doctor's prescription), with a frequency of about 2 times per month. CONCLUSIONS We found that the prevalence of back pain in adolescents is very high, with the consequences on quality of life, and it becomes frequently a self-managed symptom. This should encourage research on the causes of pain in order to limit the risk factors underlying the pain development and obtain a good prevention strategy.

The estimate of a consistent and clinically meaningful joint kinematics using wearable inertial and magnetic sensors requires a sensor-to-segment coordinate system calibration. State-of-the-art calibration procedures for the upper limb are based on functional movements and/or pre-determined postures, which are difficult to implement in subjects that have impaired mobility or are bedridden in acute units. The aim of this study was to develop and validate an alternative calibration procedure based on the direct identification of palpable anatomical landmarks (ALs) for an inertial and magnetic sensor-based upper limb movement analysis protocol. The proposed calibration procedure provides an estimate of three-dimensional shoulder/elbow angular kinematics and the linear trajectory of the wrist according to the standards proposed by the International Society of Biomechanics. The validity of the method was assessed against a camera-based optoelectronic system during uniaxial joint rotations and a reach-to-grasp task. Joint angular kinematics was found as characterised by a low-biased range of motion (2 > 0.995) with respect to the gold standard. Except for the cranio–caudal direction, the linear trajectory of the wrist was characterised by a low-biased range of motion (2 > 0.968). The proposed method enabled the estimation of reliable joint kinematics without requiring any active involvement of the patient during the calibration procedure, complying with the metrological standards and requirements of clinical movement analysis.

Background. Patients suffering from cerebellar ataxia have extremely variable gait kinematic features. We investigated whether and how wearable inertial sensors can describe the gait kinematic features among ataxic patients. Methods. We enrolled 17 patients and 16 matched control subjects. We acquired data by means of an inertial sensor attached to an ergonomic belt around pelvis, which was connected to a portable computer via Bluetooth. Recordings of all the patients were obtained during overground walking. From the accelerometric data, we obtained the harmonic ratio (HR), i.e., a measure of the acceleration patterns, smoothness and rhythm, and the step length coefficient of variation (CV), which evaluates the variability of the gait cycle. Results. Compared to controls, patients had a lower HR, meaning a less harmonic and rhythmic acceleration pattern of the trunk, and a higher step length CV, indicating a more variable step length. Both HR and step length CV showed a high effect size in distinguishing patients and controls (p &lt, 0.001 and p = 0.011, respectively). A positive correlation was found between the step length CV and both the number of falls (R = 0.672, p = 0.003) and the clinical severity (ICARS: R = 0.494, p = 0.044, SARA: R = 0.680, p = 0.003). Conclusion. These findings demonstrate that the use of inertial sensors is effective in evaluating gait and balance impairment among ataxic patients.

We tested whether acute cerebellar stroke may determine changes in brain network architecture as defined by cortical sources of EEG rhythms.Graph parameters of 41 consecutive stroke patients (5 days from the event) were studied using eLORETA EEG sources. Network rearrangements of stroke patients were investigated in delta, alpha 2, beta 2 and gamma bands in comparison with healthy subjects.The delta network remodeling was similar in cerebellar and middle cerebral artery strokes, with a reduction of small-worldness. Beta 2 and gamma small-worldness, in the right hemisphere of patients with cerebellar stroke, increase respect to healthy subjects, while alpha 2 small-worldness increases only among patients with a middle cerebral artery stroke.The network remodeling characteristics are independent on the size of the ischemic lesion. In the early post-acute stages cerebellar stroke differs from the middle cerebral artery one because it does not cause alpha 2 network remodeling while it determines a high frequency network reorganization in beta 2 and gamma bands with an increase of small-worldness characteristics.These findings demonstrate changes in the balance of local segregation and global integration induced by cerebellar acute stroke in high EEG frequency bands. They need to be integrated with appropriate follow-up to explore whether further network changes are attained during post-stroke outcome stabilization.

Sailing might produce a positive effect on a patient’s general health and become an integrated part of rehabilitation. Our hypothesis was that a specific technological rehabilitation program might be used to prepare a group of disabled subjects for sailing. Seventeen patients (age range: 9-20) with impairments in motor coordination and balance and 15 healthy subjects participated in the study. The study was divided into the virtual-technological sailing phase, theory-practice phase, and sports phase. Proprioceptive platforms were used to evaluate balance, and the Child Health Questionnaire–PF50 was used to evaluate quality of life. Trunk displacement and the center of pressure velocity improved significantly after the virtual-technological sailing program. As regards quality of life, the physical and psychosocial score significantly improved at the end of the program. A technological rehabilitation training improved balance in disabled subjects and may be used to prepare them for a real sailing course. Sailing improves the quality of life of disabled subjects and could be used in the rehabilitation.

The objective of this single-center pilot study was to assess if symptomatic intracranial atherosclerotic disease (ICAD) ultrasound features change through the 2 years after acute ischemic stroke or TIA, being ICAD a relevant cause of acute ischemic stroke or TIA, linked to high rates of recurrent stroke. We consecutively enrolled 48 patients with acute ischemic stroke or TIA with symptomatic ICAD detected by transcranial color-coded duplex sonography (TCCS) and confirmed by MR-angiography and/or CT-angiography. We set a neurosonological and clinical follow-up at 3, 6, 12, and 24 months (T0, T1, T2, T3, and T4). We observed that the hemodynamic effect of the stenosis changed during the 2-year follow-up, as revealed by the modifications of Peak Systolic Velocity (PSV) (Friedman-ANOVA test, p

Purpose To investigate whether prefrontal cortex (PFC) functioning during ataxic gait is linked to compensatory mechanisms or to the typical intra-subject variability of the ataxic gait. Methods Nineteen patients with chronic ataxia and fifteen healthy subjects were evaluated. The subjects were requested to walk along a straight distance of 10 meters while PFC oxygenation and gait parameters were assessed. PFC activity was evaluated by NIRO-200 while gait analysis was performed by the SMART-D500. To investigate the intra-subject variability of gait, we calculated the coefficient of multiple correlation (CMC) of the hip, knee and ankle kinematic waveforms furthermore, we evaluated the step width. Results We observed a positive correlation between PFC bilateral oxygenation changes and the step width (r = 0.54; p = 0.02 for the right PFC, and r = 0.50; p = 0.03 for the left PFC). No correlation was found between PFC activity and CMC of the hip, knee and ankle waveforms. Conclusions Our results suggest that PFC activity is linked to gait compensatory mechanisms more than to the variability of the joint kinematic parameters caused by a defective cerebellar control.

Background. After cerebral ischemia, disruption and subsequent reorganization of functional connections occur both locally and remote to the lesion. Recently, complexity of brain connectivity has been described using graph theory, a mathematical approach that depicts important properties of complex systems by quantifying topologies of network representations. Functional and dynamic changes of brain connectivity can be reliably analyzed via electroencephalography (EEG) recordings even when they are not yet reflected in structural changes of connections. Objective. We tested whether and how ischemic stroke in the acute stage may determine changes in small-worldness of cortical networks as measured by cortical sources of EEG. Methods. Graph characteristics of EEG of 30 consecutive stroke patients in acute stage (no more than 5 days after the event) were examined. Connectivity analysis was performed using eLORETA in both hemispheres. Results. Network rearrangements were mainly detected in delta, theta, and alpha bands when patients were compared with healthy subjects. In delta and alpha bands similar findings were observed in both hemispheres regardless of the side of ischemic lesion: bilaterally decreased small-worldness in the delta band and bilaterally increased small-worldness in the alpha2 band. In the theta band, bilaterally decreased small-worldness was observed only in patients with stroke in the left hemisphere. Conclusions. After an acute stroke, brain cortex rearranges its network connections diffusely, in a frequency-dependent modality probably in order to face the new anatomical and functional frame.

In this study we evaluated whether near-infrared spectroscopy (NIRS) can determine the metabolic patterns of dermatomyositis (DM), polymyositis (PM), and inclusion-body myositis (IBM).We enrolled 10 consecutive patients affected by DM, 11 by PM, and 9 by IBM, and 3 groups of healthy controls. We measured changes in oxygenated and deoxygenated hemoglobin/myoglobin in the extensor digitorum communis during venous and arterial occlusion testing (VOT) and post-occlusion hyperemia.DM showed lower oxygen consumption (P=0.04) during VOT and reduced oxygen supply after VOT (P=0.04) compared with controls. IBM patients showed higher oxygen consumption (P=0.04) during VOT and higher oxygen supply after VOT (P=0.03) than controls. DM patients showed reduced oxidative metabolism compared with IBM (P=0.001), and an impaired ability to supply oxygen compared with PM (P=0.03) and IBM (P=0.001) patients.NIRS differentiated samples of DM and IBM patients from controls, but it could not distinguish PM patients from a sample of healthy subjects.