Learning via imagery - merging techniques to improve the outcomes: a commentary on Frank et al. (2023).

In their article, Frank and colleagues review the effectiveness of motor imagery in learning motor skills, proposing a perceptual-cognitive theory that may facilitate learning. Imagery effectiveness could be enhanced by different techniques, influencing neurophysiological processes. Identifying individuals who could benefit from MI is crucial, and incorporating MI into strong motor representations may lead to better outcomes. Combining MI with other treatments like virtual reality and brain stimulation can further enhance its effectiveness. The purpose of this commentary is to analyze these interventions in light of their potential to influence perceptual-cognitive states in order to strengthen imagery practice and achieve the desired outcomes.

The role of nutritional supplement on post-stroke fatigue: a pilot randomized controlled trial.

OBJECTIVES: Post-stroke fatigue (PSF) is an experience characterized by an early feeling of exhaustion with fatigue, a lack of energy, and difficulty in exertion, both motor and cognitive. To counteract fatigue and limit its effects on activities of daily living, the use of vitamins and minerals is known in addition to the pharmacological approach. However, few studies have evaluated the effect of vitamin and mineral supplementation on fatigue management. SiderAL® Med is a food for special medical purposes with a complete formulation containing vitamins, sucrosomal minerals, copper and algal calcium. The aim of the study is to evaluate whether nutritional supplementation with SiderAL® Med improves the symptom of fatigue and motor and cognitive function in stroke patients. DESIGN: This is a pilot, randomized study with a control group. SETTING: Post-Acute Rehabilitation Unit of the Fondazione Policlinico "A. Gemelli" IRCCS. PARTICIPANTS: Twenty-four patients with stroke outcomes, admitted to rehabilitation, were recruited and randomized into the experimental group (Sid-G) and the control group (CG). INTERVENTION: The Sid-G patients, in association with the pharmacological and rehabilitation therapy foreseen during hospitalization, took SiderAL® Med, one sachet per day for 8 weeks, while the CG patients underwent only the pharmacological and rehabilitation therapy foreseen in the daily routine. MEASUREMENTS: All patients were assessed at baseline (T0), after 4 weeks (T1), after 8 weeks (T2) and after 12 weeks (T3) for motor and cognitive fatigue, balance, walking, functional capacity, cognitive performance, autonomy, quality of life and body composition. RESULTS: Both Sid-G and CG patients showed significant improvement on most rating scales between T0-T1-T2-T3 (p = 0.0001). When comparing the two groups, a statistically significant difference emerged in favor of Sid-G with regard to motor fatigue (p = 0.007), cognitive fatigue (p = 0.009) and total fatigue (p = 0.034); balance (p < 0.001), functional capacity (p < 0.001); cognitive performance (p = 0.004); bone mineral content (p = 0.005), lean mass (p = 0.005), total mass (p < 0.001) and percentage of fat mass (p = 0.039). CONCLUSION: Nutritional supplementation with SiderAL® Med, in concert with intensive rehabilitation treatment, appears to be effective in managing fatigue and improving motor and cognitive performance and body composition, representing a valuable tool to associate with rehabilitation treatment in stroke patients.

Modification of heart rate variability induced by focal muscle vibration in patients with severe acquired brain injury.

BACKGROUND/PURPOSE: Heart rate variability (HRV) is a biomarker of autonomic nervous system (ANS) reaction in persons with severe acquired brain injury (sABI) who undergo a rehabilitation treatment, such as focal muscle vibration (FMV).This study aims to evaluate if and how FMV can modulate HRV and to compare potential differences in FMV modulation in HRV between patients with sABI and healthy controls. METHODS: Ten patients with sABI and seven healthy controls have been recruited. Each individual underwent the same stimulation protocol (four consecutive trains of vibration of 5 minutes each with a 1-minute pause). HRV was analyzed through the ratio of frequency domain heart-rate variability (LF/HF). RESULTS: In the control group, after performing FMV, a significant LF/HF difference was observed in the in the second vibration session compared to the POST phase. Patients with SABI treated on the affected side showed a statistically significant LF/HF difference in the PRE compared to the first vibration session. CONCLUSION: These preliminary results suggest that FMV may modify the cardiac ANS activity in patients with sABI.

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.

BACKGROUND: Shoe inserts, orthopaedic shoes, ankle-foot orthoses (AFOs) are important devices in Charcot-Marie-Tooth disease (CMT) management, but data about use, benefits and tolerance are scanty. METHODS: We administered to Italian CMT Registry patients an online ad hoc questionnaire investigating use, complications and perceived benefit/tolerability/emotional distress of shoe inserts, orthopaedic shoes, AFOs and other orthoses/aids. Patients were also asked to fill in the Quebec User Evaluation of Satisfaction with assistive Technology questionnaire, rating satisfaction with currently used AFO and related services. RESULTS: We analysed answers from 266 CMT patients. Seventy per cent of subjects were prescribed lower limb orthoses, but 19% did not used them. Overall, 39% of subjects wore shoe inserts, 18% orthopaedic shoes and 23% AFOs. Frequency of abandonment was high: 24% for shoe inserts, 28% for orthopaedic shoes and 31% for AFOs. Complications were reported by 59% of patients and were more frequently related to AFOs (69%). AFO users experienced greater emotional distress and reduced tolerability as compared with shoe inserts (p<0.001) and orthopaedic shoes (p=0.003 and p=0.045, respectively). Disease severity, degree of foot weakness, customisation and timing for customisation were determinant factors in AFOs' tolerability. Quality of professional and follow-up services were perceived issues. CONCLUSIONS: The majority of CMT patients is prescribed shoe inserts, orthopaedic shoes and/or AFOs. Although perceived benefits and tolerability are rather good, there is a high rate of complications, potentially inappropriate prescriptions and considerable emotional distress, which reduce the use of AFOs. A rational, patient-oriented and multidisciplinary approach to orthoses prescription must be encouraged.

The Immediate Effects of Immersive Virtual Reality on Autonomic Nervous System Function in Patients with Disorders of Consciousness after Severe Acquired Brain Injury: A Pilot Study.

Disorders of Consciousness (DoCs) after severe acquired brain injury involve substantial impairment of cognition and physical functioning, requiring comprehensive rehabilitation and support. Technological interventions, such as immersive Virtual Reality (VR), have shown promising results in promoting neural activity and enhancing cognitive and motor recovery. VR can induce physical sensations that may activate the Autonomic Nervous System (ANS) and induce ANS-regulated responses. This study aimed to investigate the effects of immersive VR on the ANS in patients with DoCs through the analysis of the electrodermal activity (EDA). EDA was measured with a wearable device during a single immersive VR session consisting of static and dynamic videos depicting naturalistic environments. A pilot case-control study was conducted with 12 healthy participants and 12 individuals with DoCs. Results showed higher EDA values in patients than in healthy participants (p = 0.035), suggesting stronger autonomic activation during immersive VR exposure, while healthy subjects, in turn, showed a decrease in EDA values. Our results revealed a significant interaction between conditions and groups (p = 0.003), with patients showing significantly increased EDA values from the baseline compared to dynamic video observation (p = 0.014) and final rest (p = 0.007). These results suggest that immersive VR can elicit sympathetic arousal in patients with DoCs. This study highlights the potential of immersive VR as a tool to strengthen autonomic responses in patients with impaired consciousness.

Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.

BACKGROUND: Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series. METHODS: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls. ESS score > 10 indicated abnormal daytime somnolence, PSQI score > 5 bad sleep quality. We analyzed correlation with disease severity and characteristics, Hospital Anxiety and Depression Scale (HADS), Modified Fatigue Impact Scale (MFIS), Body Mass Index, drug use. RESULTS: ESS and PSQI questionnaires were filled by 257 and 253 CMT patients, respectively, and 58 controls. Median PSQI score was higher in CMT patients than controls (6 vs 4, p = 0.006), with no difference for ESS score. Abnormal somnolence and poor sleep quality occurred in 23% and 56% of patients; such patients had more frequently anxiety/depression, abnormal fatigue, and positive sensory symptoms than those with normal ESS/PSQI. Moreover, patients with PSQI score > 5 had more severe disease (median CMT Examination Score, CMTES, 8 vs 6, p = 0.006) and more frequent use of anxiolytic/antidepressant drugs (29% vs 7%, p < 0.001). CONCLUSIONS: Bad sleep quality and daytime sleepiness are frequent in CMT and correlated with anxiety, depression and fatigue, confirming that different components affect sleep. Sleep disorders, such as sleep apnea and restless leg syndrome, not specifically investigated here, are other factors known to impact on sleep quality and somnolence. CMT patients' management must include sleep behavior assessment and evaluation of its correlated factors, including general distress and fatigue.

Nerve Torsion as a Pattern of Parsonage-Turner Syndrome: Literature Review and Two Representative Cases.

(1) Background: Parsonage-Turner Syndrome (PTS) is a rare peripheral nerve disease characterized by different degrees of nerve impairment. The recent development of nerve ultrasound has enabled the use of new data in the diagnosis of the disease. The aim of this study is to conduct a literature review about the ultrasound evaluation of PTS and present two clinical cases that are characteristic of the disease. (2) Methods: A review of the literature from the last 10 years on the topic containing data regarding nerve ultrasound was performed. In addition, two cases of patients on whom nerve ultrasound was performed at the first evaluation and at follow-up after the indicated treatment were described. (3) Results: The results of our review show that although it is defined as plexopathy, PTS is most often a form of multifocal neuropathy. We also report the most frequently used ultrasound classification and possible prognostic correlations and report our experience with the description of two paradigmatic clinical cases. (4) Conclusions: Further studies are needed to understand the true prognostic power of each degree of nerve impairment and the possible implications in clinical practice regarding treatment indications.

Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.

BACKGROUND AND PURPOSE: Data are reported from the Italian CMT Registry. METHODS: The Italian CMT Registry is a dual registry where the patient registers and chooses a reference center where the attending clinician collects a minimal dataset of information and administers the Charcot-Marie-Tooth (CMT) Examination/Neuropathy Score. Entered data are encrypted. RESULTS: Overall, 1012 patients had registered (535 females) and 711 had received a genetic diagnosis. Demyelinating CMT (65.3%) was more common than axonal CMT2 (24.6%) and intermediate CMT (9.0%). The PMP22 duplication was the most frequent mutation (45.2%), followed by variants in GJB1 and MPZ (both ~10%) and MFN2 (3.3%) genes. A relatively high mutation rate in some "rare" genes (HSPB1 1.6%, NEFL 1.5%, SH3TC2 1.5%) and the presence of multiple mutation clusters across Italy was observed. CMT4A was the most disabling type, followed by CMT4C and CMT1E. Disease progression rate differed depending on the CMT subtype. Foot deformities and walking difficulties were the main features. Shoe inserts and orthotic aids were used by almost one-half of all patients. Scoliosis was present in 20% of patients, especially in CMT4C. Recessive forms had more frequently walking delay, walking support need and wheelchair use. Hip dysplasia occurred in early-onset CMT. CONCLUSIONS: The Italian CMT Registry has proven to be a powerful data source to collect information about epidemiology and genetic distribution, clinical features and disease progression of CMT in Italy and is a useful tool for recruiting patients in forthcoming clinical trials.

Imbalance of Essential Metals in Traumatic Brain Injury and Its Possible Link with Disorders of Consciousness.

Dysfunction of the complex cerebral networks underlying wakefulness and awareness is responsible for Disorders of Consciousness (DoC). Traumatic Brain Injury (TBI) is a common cause of DoC, and it is responsible for a multi-dimensional pathological cascade that affects the proper functioning of the brainstem and brain consciousness pathways. Iron (Fe), Zinc (Zn), and Copper (Cu) have a role in the neurophysiology of both the ascending reticular activating system, a multi-neurotransmitter network located in the brainstem that is crucial for consciousness, and several brain regions. We aimed to summarize the role of these essential metals in TBI and its possible link with consciousness alterations. We found that TBI alters many neuronal molecular mechanisms involving essential metals, causing neurodegeneration, neural apoptosis, synaptic dysfunction, oxidative stress, and inflammation. This final pattern resembles that described for Alzheimer's disease (AD) and other neurological and psychiatric diseases. Furthermore, we found that amantadine, zolpidem, and transcranial direct current stimulation (tDCS)-the most used treatments for DoC recovery-seem to have an effect on essential metals-related pathways and that Zn might be a promising new therapeutic approach. This review summarizes the neurophysiology of essential metals in the brain structures of consciousness and focuses on the mechanisms underlying their imbalance following TBI, suggesting their possible role in DoC. The scenario supports further studies aimed at getting a deeper insight into metals' role in DoC, in order to evaluate metal-based drugs, such as metal complexes and metal chelating agents, as potential therapeutic options.

The Role of Technological Rehabilitation in Patients with Intensive Care Unit Weakness: A Randomized Controlled Pilot Study.

Intensive-Care-Unit-Acquired Weakness (ICU-AW) is the most common neuromuscular impairment in critically ill patients and can have a significant impact on long-term disability. Early rehabilitation has been suggested to facilitate the natural recovery process. This is a pilot, randomized, single-blind study that aimed to evaluate the effectiveness of intensive combined technological rehabilitation treatment including focal muscle vibration and non-immersive virtual reality for patients with severe acquired brain injury (sABI) and ICU-AW. Twenty-four patients were randomized into the conventional group, which performed only conventional rehabilitation, and the experimental group, which also performed technological treatment. At baseline and after 3 weeks of treatment, assessments of motor function, autonomy, disability and quality of life were conducted. At the end of the intervention, both groups showed significant improvements. However, patients in the experimental group achieved greater improvements in disability (p = 0.001) and quality of life (p = 0.001). The results show that intensive structured rehabilitation is effective in improving the motor function, disability and quality of life of patients with severe acquired brain injury and acquired weakness. The combination of non-immersive virtual reality training and focal muscle vibration can result in a significant improvement in overall disability and quality of life compared with conventional treatment alone.

Focal vibration in dysphagia: A technological treatment for severe acquired brain injury rehabilitation.

BACKGROUND: A patient with severe acquired brain injury (sABI) may experience impairment in the physiological swallowing process. Many studies in the rehabilitation field have sought to understand the effects of local vibration therapy at various levels of the central nervous system and the possible benefits in neuro-rehabilitation. There are few studies directed towards the use of vibratory energy for improving swallowing and phonatory function. OBJECTIVES: The purpose of this study is to observe the effects of integrating conventional dysphagia therapy with the focal vibration therapy in patients with sABI. METHODS: This is a pilot, randomized controlled, parallel-arm, single-blind study. Twenty-eight patients with post-sABI dysphagia were included in the study and randomized to Conventional Group (CG, conventional treatment for dysphagia) or Experimental Group (EG, conventional treatment for dysphagia plus focal vibration therapy). Patients were assessed at baseline (T0), after 4 weeks (T1) and after 8 weeks (T2) using the Dysphagia Outcome Severity Scale (DOSS) and the Bedside Swallow Assessment scale (BSAs). RESULTS: Patients in the experimental group showed a statistically significant change at T1 compared with T0 at DOSS (p = .014), and at BSAS between T1 and T2 (p = .024) and between T0 and T2 (p = .027). Overall, all patients improved significantly at DOSS between T0 and T1 (p < .001) and between T0 and T2 (p < .001). CONCLUSION: The results obtained from this pilot study are encouraging and demonstrate how the use of focal vibration therapy in add on to conventional treatment for dysphagia may be another useful tool for improving swallowing in patients with sABI.

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.

BACKGROUND: There is little information about neuropsychiatric comorbidities in Charcot-Marie-Tooth disease (CMT). We assessed frequency of anxiety, depression, and general distress in CMT. METHODS: We administered online the Hospital Anxiety-Depression Scale (HADS) to CMT patients of the Italian registry and controls. HADS-A and HADS-D scores ≥ 11 defined the presence of anxiety/depression and HADS total score (HADS-T) ≥ 22 of general distress. We analysed correlation with disease severity and clinical characteristics, use of anxiolytics/antidepressants and analgesic/anti-inflammatory drugs. RESULTS: We collected data from 252 CMT patients (137 females) and 56 controls. CMT patient scores for anxiety (mean ± standard deviation, 6.7 ± 4.8), depression (4.5 ± 4.0), and general distress (11.5 ± 8.1) did not differ from controls and the Italian population. However, compared to controls, the percentages of subjects with depression (10% vs 2%) and general distress (14% vs 4%) were significantly higher in CMT patients. We found no association between HADS scores and disease duration or CMT type. Patients with general distress showed more severe disease and higher rate of positive sensory symptoms. Depressed patients also had more severe disease. Nineteen percent of CMT patients took antidepressants/anxiolytics (12% daily) and 70% analgesic/anti-inflammatory drugs. Patients with anxiety, depression, and distress reported higher consumption of anxiolytics/antidepressants. About 50% of patients with depression and/or general distress did not receive any specific pharmacological treatment. CONCLUSIONS: An appreciable proportion of CMT patients shows general distress and depression. Both correlated with disease severity and consumption of antidepressants/anxiolytics, suggesting that the disease itself is contributing to general distress and depression.

Carpal tunnel syndrome: updated evidence and new questions.

Carpal tunnel syndrome is the most common entrapment neuropathy, affecting quality of life for many people. Although it is a well recognised condition, new insights into epidemiology, diagnosis, and treatment have emerged in the past 6 years. The availability of disease-modifying treatments for rare systemic disorders associated with carpal tunnel syndrome (eg, amyloidosis) should alert clinicians to these diagnostic possibilities. Besides clinical evaluation and electrophysiology, the role of ultrasonography as a diagnostic tool has been confirmed and new ultrasound techniques have been applied, the clinical use and feasibility of which require further investigation. Surgical and non-surgical interventions are beneficial for the treatment of carpal tunnel syndrome and several treatment options are now available, giving clinicians the possibility to choose the best approach for every patient. New diagnostic and therapeutic techniques require further validation.

Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.

BACKGROUND AND PURPOSE: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated. METHODS: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group. An MFIS score >38 indicated abnormal fatigue. The correlation with disease severity and clinical characteristics, the Hospital Anxiety and Depression Scale and Epworth Sleepiness Scale scores, and drug use was analysed. RESULTS: Data were collected from 251 CMT patients (136 women) and 57 controls. MFIS total (mean ± standard deviation 32 ± 18.3, median 33), physical (18.9 ± 9.7, 20) and psychosocial (2.9 ± 2.4, 3) scores in CMT patients were significantly higher than controls. Abnormal fatigue occurred in 36% of the patients who, compared to patients with normal scores, had more severe disease (median CMT Examination Score 9 vs. 7), more frequent use of foot orthotics (22% vs. 11%), need of support for walking (21% vs. 8%), hand disability (70% vs. 52%) and positive sensory symptoms (56% vs. 36%). Patients with abnormal fatigue had significantly increased frequency of anxiety/depression/general distress (Hospital Anxiety and Depression Scale), somnolence (Epworth Sleepiness Scale), obesity (body mass index ≥ 30) and use of anxiolytic/antidepressant or anti-inflammatory/analgesic drugs. CONCLUSIONS: Fatigue is a relevant symptom in CMT as 36% of our series had scores indicating abnormal fatigue. It correlated with disease severity but also with anxiety, depression, sleepiness and obesity, indicating different components in the generation of fatigue. CMT patients' management must include treatment of fatigue and of its different generators, including general distress, sleepiness and obesity.

Ultrasound of peripheral nerves distinguishes inherited sensory neuronopathy of cerebellar ataxia with neuropathy and vestibular areflexia syndrome from inherited axonopathy.

Introduction/Aims Recent studies have shown that ultrasound of peripheral nerves can distinguish inherited sensory neuronopathy from acquired axonopathy with a high degree of accuracy. In this study we aimed to determine whether ultrasound can also distinguish inherited sensory neuronopathy from inherited axonopathy. Methods We compared the ultrasound cross-sectional areas (CSAs) of the median, ulnar, sural, and tibial nerves of retrospectively recruited patients with cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS), in whom sensory neuronopathy is a cardinal feature, with Charcot-Marie-Tooth type 2 (CMT2) disease patients, who have an inherited axonopathy, using the Kruskal-Wallis test and receiver-operating characteristic curves. Results There were 17 patients with CANVAS and 18 with CMT2. The upper limb nerve CSAs were significantly smaller in CANVAS than in CMT2 (P < .001), with the CSAs of the median nerve at mid-forearm and ulnar nerve at mid-arm being a third or less the size of those of the CMT2 patients. Nerve ultrasound reliably distinguished CANVAS from CMT2 with ROC areas under the curve between 0.97 and 0.99. The lower limb CSAs of the two patient groups were not significantly different. Discussion Ultrasound of the upper limb nerves distinguishes CANVAS sensory neuronopathy from inherited axonopathy with high accuracy and can therefore be proposed as a reliable additional tool in the investigation of these diseases.

Ultrasound-guided-electromyography in plegic muscle: Usefulness of nerve stimulation.

INTRODUCTION/AIMS: In traumatic nerve lesions (TNLs), motor unit potentials (MUPs) may be difficult to detect in early injury. Ultrasound-guided electromyography (US-EMG) can aid in identifying areas of muscle activation, but its sensitivity can be improved. In this study we compare the sensitivity of US-EMG alone with US-EMG after peripheral nerve stimulation (NC-US-EMG) to better identify active muscle regions. METHODS: In this prospective study, 32 patients with severe TNLs were evaluated with standard EMG (ST-EMG), US-EMG, and NC-US-EMG at baseline (T0), after 2 to 3 months (T1), and after 5 to 6 months (T2). RESULTS: NC-US-EMG was more sensitive in detecting MUPs compared with US-EMG and ST-EMG at T0 (19 patients vs 14 and 5 patients, respectively). In addition, both US-guided techniques were more sensitive than ST-EMG in detecting MUPs (ST-EMG vs US-EMG: P = .014; ST-EMG vs NC-US-EMG: P = .003). At T1, ST-EMG remained less sensitive NC-US-EMG (P = .019). No significant differences were observed among the three techniques at T2. DISCUSSION: In the evaluation of severe TNLs, the combination of peripheral nerve stimulation and US increases the sensitivity of EMG for MUP detection at baseline and 2 to 3 months postinjury.