Papers by Oscar Crisafulli
Clinical nutrition ESPEN, May 1, 2024
Frontiers in sports and active living, May 14, 2024
Wearable sensors like inertial measurement units (IMUs), and those available as smartphone or sma... more Wearable sensors like inertial measurement units (IMUs), and those available as smartphone or smartwatch applications, are increasingly used to quantify lumbar mobility. Currently, wearable sensors have to be placed on the back to measure lumbar mobility, meaning it cannot be used in unsupervised environments. This study aims to compare lumbar sagittal plane angles quantified from a wrist-worn against that of a lumbar-worn sensor. Twenty healthy participants were recruited. An IMU was placed on the right wrist and the L3 spinal level. Participants had to position their right forearm on their abdomen, parallel to the floor. Three sets of three consecutive repetitions of flexion, and extension were formed. Linear mixed models were performed to quantify the effect of region (lumbar vs. wrist) on six outcomes [minimum, maximum, range of motion (ROM) of flexion and extension]. Only flexion ROM was significantly different between the wrist and lumbar sensors, with a mean of 4.54°(95% CI = 1.82°-7.27°). Across all outcomes, the maximal difference between a wrist-worn and lumbar-worn sensor was <8°. A wrist-worn IMU sensor could be used to measure gross lumbar sagittal plane mobility in place of a lumbar-worn IMU. This may be useful for remote monitoring during rehabilitation.
PubMed, 2024
Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onse... more Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life. All the clinical variants share the same molecular defect, the difference being driven mainly by the copy number of SMN2 gene, a centromeric gene nearly identical to SMN1 with a unique C to T transition in Exon 7 that results in exclusion of Exon 7 during post-transcriptional processing. In all the types of SMA the clinical picture is characterized by hypotonia, weakness and areflexia. Clinical severity can vary a lot between the four main recognized types of SMA. As for the most of patients affected by different neuromuscular disorders, also in SMA fatigability is a major complaint as it is frequently reported in common daily activities and negatively impacts on the overall quality of life. The increasing awareness of fatigability as an important dimension of impairment in Neuromuscular Disorders and particularly in SMA, is making it both a relevant subject of study and identifies it as a fundamental therapeutic target. In this review, we aimed to overview the current literature articles concerning this problem, in order to highlight what is known and what deserves further research.
BMC Musculoskeletal Disorders, Jan 4, 2024
Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical act... more Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). Methods People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age. Results 368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73-0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51-0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B).
Frontiers in physiology, Apr 5, 2024
Background: It is unclear whether prolonged periods of training can be well tolerated. In Charcot... more Background: It is unclear whether prolonged periods of training can be well tolerated. In Charcot-Marie Tooth disease (CMT). We report the effects of an 8month, adapted motor activity (AMA) program in a 16-years-old CMT1A male patient. The program included strength, mobility, and balance training (two sessions per week, 1 h per session).
Annals of physical and rehabilitation medicine, Sep 1, 2016
Physiological Reports, Jul 1, 2023
Type I diabetes has an incidence of 15 per 100,000 people. Though it is a metabolic disorder, it ... more Type I diabetes has an incidence of 15 per 100,000 people. Though it is a metabolic disorder, it can be seen in top, even professional athletes. Physical activity is recommended to manage diabetes, but there is a lack of specific knowledge on diabetes management and exercise from dedicated medical staff. This bias leads to suboptimal diabetes management, causing frequent hyper and hypoglycemia, a dysregulation of glycated hemoglobin, blood glucose out of control, and consequent needs to often intervene with extra insulin or carbohydrates. For 5 years, we followed a highly competitive male Caucasian athlete Vovinam Viet Vo Dao, with type I diabetes, aged 17. We monitored his glycated hemoglobin, the insulin drug administered, and glycemia blood level averages. We obtained, over time, a decrease in glycated hemoglobin by almost −22% and insulin administered by −37.33%, and average blood glycemia levels diminished by almost −27%. In addition, we carried out bioimpedance analysis and stratigraphy on the abdomen. Federation trainers supervised all physical training; we recorded an improvement in the general condition, underlined in particular by an increase in phase angle (from bioimpedance) of +17%.
Journal of Neural Transmission, Jul 29, 2021
Day-today walking-related activities frequently involve the simultaneous performance of two or mo... more Day-today walking-related activities frequently involve the simultaneous performance of two or more tasks (i.e., dual task). Dual task ability is influenced by higher order cognitive and cortical control mechanisms. Recently, it has been shown that the concomitant execution of an attention-demanding task affected postural control in subject with cervical dystonia (CD). However, no study has investigated whether dual tasking might deteriorate gait performance in CD patients. To investigate whether adding a concomitant motor and cognitive tasks could affect walking performance in CD subjects.17 CD patients and 19 healthy subjects (HS) participated in this pilot case-control study. Gait performance was evaluated during four walking tasks: usual, fast, cognitive dual task and obstacle negotiation. Spatiotemporal parameters, dual-task cost and coefficients of variability (CV%) were measured by GaitRite ® and were used to detect differences between groups. Balance performance was also assessed with Mini-BEST and Four Step Square tests. In CD participants, correlation analysis was computed between gait parameters and clinical data. Significant differences in complex gait and balance performance were found between groups. CD patients showed lower speed, longer stance time and higher CV% and dual-task cost compared to HS. In CD, altered gait parameters correlated with balance performance and were not associated with clinical features of CD. Our findings suggest that complex walking performance is impaired in patients with CD and that balance and gait deficits might be related
Neural Plasticity, Mar 11, 2019
Unilateral axial muscle vibration, eliciting a proprioceptive volley, is known to incite steering... more Unilateral axial muscle vibration, eliciting a proprioceptive volley, is known to incite steering behavior. Whole-body rotation while stepping in place also occurs as an after-effect of stepping on a circular treadmill (podokinetic after-rotation, PKAR). Here, we tested the hypothesis that PKAR is modulated by axial muscle vibration. If both phenomena operate through a common pathway, enhancement or cancellation of body rotation would occur depending on the stimulated side when vibration is administered concurrently with PKAR. Seventeen subjects participated in the study. In one session, subjects stepped in place eyes open on the center of a platform that rotated counterclockwise 60°/s for 10 min. When the platform stopped, subjects continued stepping in place blindfolded. In other session, a vibratory stimulus (100 Hz, 2 min) was administered to right or left paravertebral muscles at lumbar level at two intervals during the PKAR. We computed angular body velocity and foot step angles from markers fixed to shoulders and feet. During PKAR, all subjects rotated clockwise. Decreased angular velocity was induced by right vibration. Conversely, when vibration was administered to the left, clockwise rotation velocity increased. The combined effect on body rotation depended on the time at which vibration was administered during PKAR. Under all conditions, foot step angle was coherent with shoulder angular velocity. PKAR results from continuous asymmetric input from the muscles producing leg rotation, while axial muscle vibration elicits a proprioceptive asymmetric input. Both conditioning procedures appear to produce their effects through a common mechanism. We suggest that both stimulations would affect our straight ahead by combining their effects in an algebraic mode.
Journal of Neurophysiology, Dec 1, 2015
We investigated the integration time of haptic and visual input and their interaction during stan... more We investigated the integration time of haptic and visual input and their interaction during stance stabilization. Eleven subjects performed four tandem-stance conditions (60 trials each). Vision, touch, and both vision and touch were added and withdrawn. Furthermore, vision was replaced with touch and vice versa. Body sway, tibialis anterior, and peroneus longus activity were measured. Following addition or withdrawal of vision or touch, an integration time period elapsed before the earliest changes in sway were observed. Thereafter, sway varied exponentially to a new steady-state while reweighting occurred. Latencies of sway changes on sensory addition ranged from 0.6 to 1.5 s across subjects, consistently longer for touch than vision, and were regularly preceded by changes in muscle activity. Addition of vision and touch simultaneously shortened the latencies with respect to vision or touch separately, suggesting cooperation between sensory modalities. Latencies following withdrawal of vision or touch or both simultaneously were shorter than following addition. When vision was replaced with touch or vice versa, adding one modality did not interfere with the effect of withdrawal of the other, suggesting that integration of withdrawal and addition were performed in parallel. The time course of the reweighting process to reach the new steadystate was also shorter on withdrawal than addition. The effects of different sensory inputs on posture stabilization illustrate the operation of a time-consuming, possibly supraspinal process that integrates and fuses modalities for accurate balance control. This study also shows the facilitatory interaction of visual and haptic inputs in integration and reweighting of stance-stabilizing inputs.
Medicina Dello Sport, Mar 1, 2023
Frontiers in Physiology, Nov 17, 2022
Background: COVID-19 may require hospitalization in an intensive care unit (ICU) and is often ass... more Background: COVID-19 may require hospitalization in an intensive care unit (ICU) and is often associated with the onset of critical illness polyneuropathy (CIP) and critical illness myopathy (CIM). Due to the spread of the disease around the world, the identification of new rehabilitation strategies for patients facing this sequence of events is of increasing importance. Case presentation: We report the clinical presentation and the beneficial effects of a prolonged, supervised adapted motor activity (AMA) program in a highly deconditioned 61-year-old male COVID-19 patient discharged from the ICU and complicated by residual CIP and CIM. The program included aerobic, strength, gait, and balance training (1 h, 2 sessions per week). Measures: Pulmonary (spirometry), metabolic (indirect calorimetry and bioimpedance), and neuromuscular functions (electromyography) were evaluated at baseline and after 1 year of training. Results: Relative to baseline, an amelioration of several spirometric parameters such as vital capacity (VC, +40%), total lung capacity (TLC, +25%), and forced expiratory volume in 1 s (FEV1, +28%) was appreciable. Metabolic parameters such as body water (60%-46%), phase angle (3.6°-5.9°), and respiratory quotient (0.92-0.8) returned to the physiological range. Electromyographic parameters were substantially unchanged. The overall amelioration in clinical parameters resulted in a significant improvement of patient autonomy and the quality of life.
Frontiers in Neuroscience, Sep 11, 2018
Neurology, Jan 14, 2020
Objective To determine whether different phenotypes of cervical dystonia (CD) express different t... more Objective To determine whether different phenotypes of cervical dystonia (CD) express different types and levels of somatosensory impairment. Methods We assessed somatosensory function in patients with CD with and without tremor (n = 12 each) and in healthy age-matched controls (n = 22) by measuring tactile temporal discrimination thresholds of the nondystonic forearm and proprioceptive acuity in both the dystonic (head/neck) and nondystonic body segments (forearm/hand) using a joint position-matching task. The head or the wrist was passively displaced along different axes to distinct joint positions by the experimenter or through a robotic exoskeleton. Participants actively reproduced the experienced joint position, and the absolute joint position-matching error between the target and the reproduced positions served as a marker of proprioceptive acuity. Results Tactile temporal discrimination thresholds were significantly elevated in both CD subgroups compared to controls. Proprioceptive acuity of both the dystonic and nondystonic body segments was elevated in patients with CD and tremor with respect to both healthy controls and patients with CD without tremor. That is, tactile abnormalities were a shared dysfunction of both CD phenotypes, while proprioceptive dysfunction was observed in patients with CD with tremor. Conclusions Our findings suggest that the pathophysiology in CD can be characterized by 2 abnormal neural processes: a dysfunctional somatosensory gating mechanism involving the basal ganglia that triggers involuntary muscle spasms and abnormal processing of proprioceptive information within a defective corticocerebellar loop, likely affecting the feedback and feedforward control of head positioning. This dysfunction is expressed mainly in CD with tremor.
Frontiers in Human Neuroscience, Aug 31, 2016
Neurological Sciences, Dec 19, 2022
link.springer.com A gait-based paradigm to investigate central body representation in cervical dy... more link.springer.com A gait-based paradigm to investigate central body representation in cervical dystonia patients O Crisafulli, E Ravizzotti, S Mezzarobba, C Cosentino, G Bonassi, A Botta, G Abbruzzese, R Marchese, L Avanzino, E Pelosin Neurological Sciences 44 (4), 1311-1318, 2023 Background Cervical dystonia (CD) is a common adult-onset idiopathic form of dystonia characterized by an abnormal head posture caused by an excessive activity of the neck muscles. The position of the head is important to direct viewpoint in the rounding environment, and the body orientation, during gait, must be coherent with the subjective straight ahead (SSA). An alteration of the SSA, as in the case of CD patients, could affect gait when visual input is not available. The aim of this study was to probe the behavior of patients with CD during blindfolded walking, investigating the ability to walk straight ahead based only on somatosensory and vestibular information. Methods In this observational cross-sectional study, patients with CD and healthy control subjects (HC) were compared. All participants were evaluated through a gait analysis during blindfolded walking on a GAITRite carpet, relying on their own sense of straightness. Results Patients with CD showed lower values of path length (p &lt; 0.001), a lower number of steps on the carpet (p &lt; 0.001). A higher number of CD patients deviated during the task, walking out of the carpet, (p &lt; 0.005) compared to HS. No relation was found between the dystonic side and the gait trajectory deviation. A significant correlation was found between pain symptom and gait performance. Conclusions CD patients showed dysfunctions in controlling dynamic body location during walking without visual afferences, while the dystonic side does not seem to be related to the lateral deviation of the trajectory. Our results would assume that a general proprioceptive impairment could lead to an improper body position awareness in patients with CD.
Annals of physical and rehabilitation medicine, Sep 1, 2016
Objective Turning around while stepping in place can be produced voluntarily. One way of producin... more Objective Turning around while stepping in place can be produced voluntarily. One way of producing involuntary turning around while stepping-in-place eyes closed is by training subjects onto a rotating platform while stepping-in-place and maintaining a fixed body orientation in space. This task produces a post-effect called “podokinetic after-rotation” (PKAR). Such training has been suggested for Parkinsonian patients. We tested the hypothesis that voluntary stepping-in-place and turning around also produces a post-effect similar to the PKAR. Material/patients and methods Sixteen subjects performed two different trials: 12 min of voluntary rotation around their vertical axes eyes closed and 12 min of stepping-in-place eyes open on the centre of a platform, rotating at of 60 °/s. Then, subjects were asked to continue stepping-in-place eyes closed for 10 min more. We recorded the body's segment positions. Subjects’ rotation velocity was the derivative of the angle described by the shoulders axis in the horizontal plane. Results The post-effect of stepping-in-place while voluntarily turning shares all features of the PKAR induced by the “podokinetic stimulation” of the platform rotation. In particular, stepping cadence, peak rotation velocity and its time decay are similar between the two conditions. Also, the ratio of the turning velocity pre (podokinetic stimulation or voluntary rotation) to the turning velocity of the PKAR is similar. Under both conditions, the post-rotation takes place without perception. Discussion-conclusion We suggest that the post-effect of both protocols is induced by the repeated voluntary contraction of the leg and foot intra-rotating pelvic muscles, which are active when the trunk rotates over the stance foot for aligning these segments, a synergy common to both protocols. We propose that stepping-in-place while voluntarily turning can substitute the rotating platform for learning the rotating coordination in patients with impairment of turning synergies of various origin. Source of funding This study was supported by the “Giovani Ricercatori 2009” grant (GR-2009-1471033) from the Italian Ministry of Health.
Frontiers in Neurology, Mar 1, 2018
Journal of Neurophysiology, Feb 1, 2017
The aim of this study was to test the effects of a concurrent cognitive task on the promptness of... more The aim of this study was to test the effects of a concurrent cognitive task on the promptness of the sensorimotor integration and reweighting processes following addition and withdrawal of vision. Fourteen subjects stood in tandem while vision was passively added and removed. Subjects performed a cognitive task, consisting of counting backward in steps of three, or were "mentally idle." We estimated the time intervals following addition and withdrawal of vision at which body sway began to change. We also estimated the time constant of the exponential change in body oscillation until the new level of sway was reached, consistent with the current visual state. Under the mentally idle condition, mean latency was 0.67 and 0.46 s and the mean time constant was 1.27 and 0.59 s for vision addition and withdrawal, respectively. Following addition of vision, counting backward delayed the latency by about 300 ms, without affecting the time constant. Following withdrawal, counting backward had no significant effect on either latency or time constant. The extension by counting backward of the time interval to stabilization onset on addition of vision suggests a competition for allocation of cortical resources. Conversely, the absence of cognitive task effect on the rapid onset of destabilization on vision withdrawal, and on the relevant reweighting time course, advocates the intervention of a subcortical process. Diverting attention from a challenging standing task discloses a cortical supervision on the process of sensorimotor integration of new balance-stabilizing information. A subcortical process would instead organize the response to removal of the stabilizing sensory input. NEW & NOTEWORTHY This study is the first to test the effect of an arithmetic task on the time course of balance readjustment following visual withdrawal or addition. Performing such a cognitive task increases the time delay following addition of vision but has no effect on withdrawal dynamics. This suggests that sensorimotor integration following addition of a stabilizing signal is performed at a cortical level, whereas the response to its withdrawal is "automatic" and accomplished at a subcortical level.
We investigated the integration time of haptic and visual input and their interaction during stan... more We investigated the integration time of haptic and visual input and their interaction during stance stabilization. Eleven subjects performed four tandem-stance conditions (60 trials each). Vision, touch, and both vision and touch were added and withdrawn. Furthermore, vision was replaced with touch and vice versa. Body sway, tibialis anterior, and peroneus longus activity were measured. Following addition or withdrawal of vision or touch, an integration time period elapsed before the earliest changes in sway were observed. Thereafter, sway varied exponentially to a new steady-state while reweighting occurred. Latencies of sway changes on sensory addition ranged from 0.6 to 1.5 s across subjects, consistently longer for touch than vision, and were regularly preceded by changes in muscle activity. Addition of vision and touch simultaneously shortened the latencies with respect to vision or touch separately, suggesting cooperation between sensory modalities. Latencies following withdrawal of vision or touch or both simultaneously were shorter than following addition. When vision was replaced with touch or vice versa, adding one modality did not interfere with the effect of withdrawal of the other, suggesting that integration of withdrawal and addition were performed in parallel. The time course of the reweighting process to reach the new steadystate was also shorter on withdrawal than addition. The effects of different sensory inputs on posture stabilization illustrate the operation of a time-consuming, possibly supraspinal process that integrates and fuses modalities for accurate balance control. This study also shows the facilitatory interaction of visual and haptic inputs in integration and reweighting of stance-stabilizing inputs.
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Papers by Oscar Crisafulli