Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot-Marie-Tooth disease: a real-practice retrospective study.

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies and can lead to progressive muscular weakness, pes cavus, loss of deep tendon reflexes, distal sensory loss, and gait impairment. There are still no effective drugs or surgical therapies for CMT, and supportive treatment is limited to rehabilitative therapy and surgical treatment of skeletal deformities. Many rehabilitative therapeutic approaches have been proposed, but timing and cadence of rehabilitative intervention are not clearly defined, and long-term follow-up is lacking in literature. The aim of this real-practice retrospective study was to assess the effectiveness of an intensive neurorehabilitation protocol on muscle strength and functioning in CMT patients. We analyzed data of patients with diagnosis of mild to moderate CMT. The rehabilitation program lasted 2-4 h a day, 5 days a week, for 3 weeks and consisted of manual treatments, strengthening exercises, stretching, core stability, balance and resistance training, aerobic exercises, and tailored self-care training. Data were collected at baseline (T0), after treatment (T1), and at the 12-month mark (T2) in terms of the following outcome measures: muscle strength, pain, fatigue, cramps, balance, walking speed, and ability. We included 37 CMT patients with a median age of 50.72 ± 13.31 years, with different forms: demyelinating (n = 28), axonal (n = 8), and mixed (n = 1). After intensive rehabilitation treatment, all outcomes significantly improved. This improvement was lost at the 1-year mark. Taken together, these findings suggest that an intensive rehabilitation program improves short-term symptoms and functional outcomes in a cohort of inpatients affected by mild to moderate CMT.

The Italian guideline on comprehensive geriatric assessment (CGA) for the older persons: a collaborative work of 25 Italian Scientific Societies and the National Institute of Health.

BACKGROUND: The guideline was promoted by the Italian General Practitioners-Primary Care and Geriatrics Hospital-Community Societies and was carried out involving the National Institute of Health and an Expert Panel including representatives from 25 Scientific and Health-Professional Organizations. The aim of the Guideline was to develop evidence-based recommendations on the efficacy of CGA in older people across different clinical settings and the accuracy and utility of CGA-based tools to assess prognosis. METHODS: According to the methodological handbook of the Italian National System of Guidelines and NICE criteria (National Institute for Health and Care Excellence in England), the Guideline was produced based on the Grading of Recommendations Assessment, Development and Evaluation. Over 20,000 records gathered through databases searches were initially selected. Sixteen recommendations on CGA efficacy were defined based on 117 studies that met the inclusion criteria and were performed in general practices and primary care (26 studies included), medical and surgical clinics (16 studies), emergency departments (17 studies), hospital medical and surgical wards (53 studies), long-term care facilities and nursing homes (5 studies), hospices and palliative care networks (no studies). Nine recommendations on CGA-based prognostic tools were issues based on 42 included studies carried out in general practices and primary care (5 studies), medical and surgical clinics (4 studies), and hospital wards (33 studies). RESULTS: Using CGA can be useful to reduce hospitalization, mortality, institutionalization, the risk of delirium, and improve appropriateness in drug prescription and maintain functional activities in different settings. Further research on the efficacy of CGA in rehabilitative facilities, nursing homes, and hospice and palliative-care settings is recommended. CGA-based tools, particularly the Multidimensional Prognostic Index, should be used to predict some negative outcomes in different settings. CONCLUSIONS: This Guideline may be useful in clinical practice and as a tool to support research on the use of CGA in older people.

Interplay between speech and gait variables in Parkinson's disease patients treated with subthalamic nucleus deep brain stimulation: A long-term instrumental assessment.

OBJECTIVE: To evaluate correlations between speech and gait parameters in the long term and under different medication and subthalamic nucleus deep brain stimulation (STN-DBS) conditions in a cohort of advanced Parkinson's disease (PD) patients. METHODS: This observational study included consecutive PD patients treated with bilateral STN-DBS. Axial symptoms were evaluated using a standardized clinical-instrumental approach. Speech and gait were assessed by perceptual and acoustic analyses and by the instrumented Timed Up and Go (iTUG) test, respectively. Disease motor severity was evaluated with the total score and subscores of the Unified Parkinson's Disease Rating Scale (UPDRS) Part III. Different stimulation and drug treatment conditions were assessed: on-stimulation/off-medication, off-stimulation/off-medication, and on-stimulation/on-medication. RESULTS: Twenty-five PD patients with a 5-year median follow-up after surgery (range 3-7 years) were included (18 males; disease duration at surgery: 10.44 [SD 4.62] years; age at surgery: 58.40 [SD 5.73] years). In the off-stimulation/off-medication and on-stimulation/on-medication conditions, patients who spoke louder had also the greater acceleration of the trunk during gait; whereas in the on-stimulation/on-medication condition only, patients with the poorer voice quality were also the worst to perform the sit to stand and gait phases of the iTUG. Conversely, patients with the higher speech rate performed well in the turning and walking phases of the iTUG. CONCLUSIONS: This study underlines the presence of different correlations between treatment effects of speech and gait parameters in PD patients treated with bilateral STN-DBS. This may allow us to better understand the common pathophysiological basis of these alterations and to develop a more specific and tailored rehabilitation approach for axial signs after surgery.

Automatic Identification of Involuntary Muscle Activity in Subacute Patients with Upper Motor Neuron Lesion at Rest-A Validation Study.

Sustained involuntary muscle activity (IMA) is a highly disabling phenomenon that arises in the acute phase of an upper motor neuron lesion (UMNL). Wearable probes for long-lasting surface EMG (sEMG) recordings have been recently recommended to detect IMA insurgence and to quantify its evolution over time, in conjunction with a complex algorithm for IMA automatic identification and classification. In this study, we computed sensitivity (Se), specificity (Sp), and overall accuracy (Acc) of this algorithm by comparing it with the classification provided by two expert assessors. Based on sample size estimation, 6020 10 s-long sEMG epochs were classified by both the algorithm and the assessors. Epochs were randomly extracted from long-lasting sEMG signals collected in-field from 14 biceps brachii (BB) muscles of 10 patients (5F, age range 50-71 years) hospitalized in an acute rehabilitation ward following a stroke or a post-anoxic coma and complete upper limb (UL) paralysis. Among the 14 BB muscles assessed, Se was 85.6% (83.6-87.4%); Sp was 89.7% (88.6-90.7%), and overall Acc was 88.5% (87.6-89.4%) and ranged between 78.6% and 98.7%. The presence of IMA was detected correctly in all patients. These results support the algorithm's use for in-field IMA assessment based on data acquired with wearable sensors. The assessment and monitoring of IMA in acute and subacute patients with UMNL could improve the quality of care needed by triggering early treatments to lessen long-term complications.

Fundamental Concepts of Bipolar and High-Density Surface EMG Understanding and Teaching for Clinical, Occupational, and Sport Applications: Origin, Detection, and Main Errors.

Surface electromyography (sEMG) has been the subject of thousands of scientific articles, but many barriers limit its clinical applications. Previous work has indicated that the lack of time, competence, training, and teaching is the main barrier to the clinical application of sEMG. This work follows up and presents a number of analogies, metaphors, and simulations using physical and mathematical models that provide tools for teaching sEMG detection by means of electrode pairs (1D signals) and electrode grids (2D and 3D signals). The basic mechanisms of sEMG generation are summarized and the features of the sensing system (electrode location, size, interelectrode distance, crosstalk, etc.) are illustrated (mostly by animations) with examples that teachers can use. The most common, as well as some potential, applications are illustrated in the areas of signal presentation, gait analysis, the optimal injection of botulinum toxin, neurorehabilitation, ergonomics, obstetrics, occupational medicine, and sport sciences. The work is primarily focused on correct sEMG detection and on crosstalk. Issues related to the clinical transfer of innovations are also discussed, as well as the need for training new clinical and/or technical operators in the field of sEMG.

Electrode Size and Placement for Surface EMG Bipolar Detection from the Brachioradialis Muscle: A Scoping Review.

The brachioradialis muscle (BRD) is one of the main elbow flexors and is often assessed by surface electromyography (sEMG) in physiology, clinical, sports, ergonomics, and bioengineering applications. The reliability of the sEMG measurement strongly relies on the characteristics of the detection system used, because of possible crosstalk from the surrounding forearm muscles. We conducted a scoping review of the main databases to explore available guidelines of electrode placement on BRD and to map the electrode configurations used and authors' awareness on the issues of crosstalk. One hundred and thirty-four studies were included in the review. The crosstalk was mentioned in 29 studies, although two studies only were specifically designed to assess it. One hundred and six studies (79%) did not even address the issue by generically placing the sensors above BRD, usually choosing large disposable ECG electrodes. The analysis of the literature highlights a general lack of awareness on the issues of crosstalk and the need for adequate training in the sEMG field. Three guidelines were found, whose recommendations have been compared and summarized to promote reliability in further studies. In particular, it is crucial to use miniaturized electrodes placed on a specific area over the muscle, especially when BRD activity is recorded for clinical applications.

Monitoring Involuntary Muscle Activity in Acute Patients with Upper Motor Neuron Lesion by Wearable Sensors: A Feasibility Study.

Sustained involuntary muscle activity (IMA) is a highly disabling and not completely understood phenomenon that occurs after a central nervous system lesion. We tested the feasibility of in-field IMA measuring at an acute rehabilitation ward. We used wearable probes for single differential surface EMG (sEMG), inclusive of a 3D accelerometer, onboard memory and remote control. We collected 429 h of data from the biceps brachii of 10 patients with arm plegia. Data quality was first verified in the time and frequency domains. Next, IMA was automatically identified based on the steady presence of motor unit action potential (MUAP) trains at rest. Feasibility was excellent in terms of prep time and burden to the clinical staff. A total of 350.5 h of data (81.7%) were reliable. IMA was found in 85.9 h (25%). This was often present in the form of exceedingly long-lasting trains of one or a few MUAPs, with differences among patients and variability, both within and between days in terms of IMA duration, root mean square (RMS) and peak-to-peak amplitude. Our results proved the feasibility of using wearable probes for single differential sEMG to identify and quantify IMA in plegic muscles of bedridden acute neurological patients. Our results also suggest the need for long-lasting acquisitions to properly characterize IMA. The possibility of easily assessing IMA in acute inpatients can have a huge impact on the management of their postures, physiotherapy and treatments.

Long-term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot-Marie-Tooth disease: A retrospective study.

Structural foot deformities consequent to Charcot Marie Tooth (CMT) can be treated by functional surgery (FS). This study aims to evaluate both long-term walking ability and patients' satisfaction in CMT subjects who underwent FS during their lifetime. We conducted a retrospective observational study. Age, sex, CMT type, comprehensive surgical history, current walking ability assessed by the Walking Handicap Scale (WHS) and patients' global impression of change (pGIC) were retrieved from a custom database managed at our institution. WHS and pGIC were assessed between mid-2018 and mid-2019. Data from 79 patients were screened and 63 were included, 35W-28M, mean age 42 (15), with demyelinating (75%), axonal (20%), and other types (5%) of CMT, who underwent FS between 1967 and 2018. FS evolved significantly over the years from bone-related procedures (e.g., arthrodesis) to both bone and soft tissues-related procedures. The re-intervention rate decreased from 70% before 2000 to 32% in the last decade. Complications arose in five cases. FS was mainly performed on adults (73%). WHS was ≥ 5 in three-quarters of the sample (range 1-6) and was significantly affected by age groups in patients with demyelinating CMT (n=47, p<0.01, non-parametric ANOVA). Nearly 80% of patients were satisfied with FS (pGIC ≥ 4). In conclusion, CMT subjects who underwent FS surgery maintained a high gait efficiency in the long-term period, with middle to high levels of satisfaction in the majority of the cases. This confirms the validity of FS in the management of acquired foot deformities in CMT patients.

The role of perspective in discriminating between social and non-social intentions from reach-to-grasp kinematics.

Making correct inferences regarding social and individual intentions may be crucial for successful interactions, especially when we are required to discriminate between cooperative and competitive behaviors. The results of previous studies indicate that reach-to-grasp kinematic parameters may be used to infer the social or individual outcome of a movement. However, the majority of the studies investigated this ability by presenting reach-to-grasp movements from a third-person perspective only. The aim of the present study was to assess whether the ability to recognize the intent associated to a reach-to-grasp movement varies as a function of perspective by manipulating the perspective of observation (second- and third-perspective) within participants. To this end, we presented participants with video clips of models performing a reach-to-grasp movement with different intents. The video clips were recorded both from a lateral view (third-person perspective) and from a frontal view (second-person perspective). After viewing the clips, in two subsequent tasks participants were asked to distinguish between social and non-social intentions by observing the initial phase of the same action recorded from the two different views. Results showed that, when a fast-speed movement was presented from a lateral view, participants were able to predict its social intention. In contrast, when the same movement was observed from a frontal view, performance was impaired. These results indicate that the ability to detect social intentions from motor cues can be biased by the visual perspective of the observer, specifically for fast-speed movements.

Feasibility and predictive performance of the Hendrich Fall Risk Model II in a rehabilitation department: a prospective study.

BACKGROUND: Falls are a common adverse event in both elderly inpatients and patients admitted to rehabilitation units. The Hendrich Fall Risk Model II (HIIFRM) has been already tested in all hospital wards with high fall rates, with the exception of the rehabilitation setting. This study's aim is to address the feasibility and predictive performances of HIIFRM in a hospital rehabilitation department. METHODS: A 6 months prospective study in a Italian rehabilitation department with patients from orthopaedic, pulmonary, and neurological rehabilitation wards. All admitted patients were enrolled and assessed within 24 h of admission by means of the HIIFRM. The occurrence of falls was checked and recorded daily. HIIFRM feasibility was assessed as the percentage of successful administrations at admission. HIIFRM predictive performance was determined in terms of area under the Receiver Operating Characteristic (ROC) curve (AUC), best cutoff, sensitivity, specificity, positive and negative predictive values, along with their asymptotic 95% confidence intervals (95% CI). RESULTS: One hundred ninety-one patents were admitted. HIIFRM was feasible in 147 cases (77%), 11 of which suffered a fall (7.5%). Failures in administration were mainly due to bedridden patients (e.g. minimally conscious state, vegetative state). AUC was 0.779(0.685-0.873). The original HIIFRM cutoff of 5 led to a sensitivity of 100% with a mere specificity of 49%(40-57%), thus suggesting using higher cutoffs. Moreover, the median score for non-fallers at rehabilitation units was higher than that reported in literature for geriatric non fallers. The best trade-off between sensitivity and specificity was obtained by using a cutoff of 8. This lead to sensitivity = 73%(46-99%), specificity = 72%(65-80%), positive predictive value = 17% and negative predictive value = 97%. These results support the use of the HIIFRM as a predictive tool. CONCLUSIONS: The HIIFRM showed satisfactory feasibility and predictive performances in rehabilitation wards. Based on both available literature and these results, the prediction of falls among all hospital wards, with high risk of falling, could be achieved by means of a unique tool and two different cutoffs: a standard cutoff of 5 in geriatric wards and an adjusted higher cutoff in rehabilitation units, with predictive performances similar to those of the best-preforming pathology specific tools for fall-risk assessment.

Instrumental indices for upper limb function assessment in stroke patients: a validation study.

BACKGROUND: Robotic exoskeletons are increasingly being used in objective and quantitative assessment of upper limb (UL) movements. A set of instrumental indices computed during robot-assisted reaching tasks with the Armeo®Spring has been proven to assess UL functionality. The aim of this study was to test the construct validity of this indices-based UL assessment when used with patients who have had a stroke. METHODS: Forty-four 45- to 79-year-old stroke patients with a Wolf Motor Function Test ability score (WMFT-FAS) ranging from 10 to 75 and a Motricity Index (MI) ranging from 14 to 33 at shoulder and elbow were enrolled, thus covering a wide range of impairments. Residual UL function was assessed by both the WMFT-FAS and the WMFT-TIME, as well as by a set of 9 numerical indices assessing movement accuracy, velocity and smoothness computed from a 3D endpoint trajectory obtained during the "Vertical Capture" task of the Armeo®Spring device. To explore which variables better represented motor control deficits, the Mann-Whitney U Test was used to compare patients' indices to those obtained from 25 healthy individuals. To explore the inner relationships between indices and construct validity in assessing accuracy, velocity and smoothness, a factor analysis was carried out. To verify the indices concurrent validity, they were compared to both WMFT-FAS and WMFT-TIME by the Spearman's correlation coefficient. RESULTS: Seven indices of stroke subjects were significantly different from those of healthy controls, with effect sizes in the range 0.35-0.74. Factor analysis confirmed that specific subsets of indices belonged to the domains of accuracy, velocity and smoothness (discriminant validity). One accuracy index, both velocity indices and two smoothness indices were significantly correlated with WMFT-FAS and WMFT-TIME (|rho| = 0.31-0.50) (concurrent validity). One index for each of the assessed movement domains was proven to have construct validity (discriminant and concurrent) and was selected. Moreover, the indices were able to detect differences in accuracy, velocity and/or smoothness in patients with the same WMFT level. CONCLUSIONS: The proposed index-based UL assessment can be used to integrate and support clinical evaluation of UL function in stroke patients.

PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease or Obesity.

BACKGROUND: Retinol is a lipid-soluble essential nutrient that is stored as retinyl esters in lipid droplets of hepatic stellate cells. Patatin-like phospholipase domain-containing 3 (PNPLA3), through its retinyl-palmitate lipase activity, releases retinol from lipid droplets in hepatic stellate cells in vitro and ex vivo. We have shown that the genetic variant I148M (rs738409) reduces the PNPLA3 retinyl-palmitate lipase activity. OBJECTIVE: The aim of the present genetic association study was to test whether overweight/obese carriers of the PNPLA3 148M mutant allele had lower circulating concentrations of retinol than individuals who are homozygous for the 148I allele. METHODS: PNPLA3 I148M (rs738409) was genotyped by Taqman assay in 76 overweight/obese individuals [BMI (kg/m(2)) ≥25; mean ± SD age: 59.7 ± 11.4 y; male gender: 70%] with a histologic diagnosis of nonalcoholic fatty liver disease (NAFLD; namely the Milan NAFLD cohort) and in 413 obese men (BMI ≥30; mean ± SD age: 57.1 ± 4.9 y) from the α-Tocopherol, ß-Carotene Cancer Prevention (ATBC) Study. Serum concentrations of retinol and α-tocopherol were measured by HPLC in both cohorts. ß-Carotene concentrations in the ATBC study were measured by using HPLC. RESULTS: The PNPLA3 148M mutant allele was associated with lower fasting circulating concentrations of retinol (ß = -0.289, P = 0.03) in adults with NAFLD (Milan NAFLD cohort). The PNPLA3 148M mutant allele was also associated with lower fasting circulating concentrations of retinol in adults with a BMI ≥30 (ATBC study; ß = -0.043, P = 0.04). CONCLUSION: We showed for the first time, to our knowledge, that carriers of the PNPLA3 148M allele with either fatty liver plus obesity or obesity alone have lower fasting circulating retinol concentrations.

Machine learning applied to gait analysis data in cerebral palsy and stroke: A systematic review.

BACKGROUND: Among neurological pathologies, cerebral palsy and stroke are the main contributors to walking disorders. Machine learning methods have been proposed in the recent literature to analyze gait data from these patients. However, machine learning methods still fail to translate effectively into clinical applications. This systematic review addressed the gaps hindering the use of machine learning data analysis in the clinical assessment of cerebral palsy and stroke patients. RESEARCH QUESTION: What are the main challenges in transferring proposed machine learning methods to clinical applications? METHODS: PubMed, Web of Science, Scopus, and IEEE databases were searched for relevant publications on machine learning methods applied to gait analysis data from stroke and cerebral palsy patients until February the 23rd, 2023. Information related to the suitability, feasibility, and reliability of the proposed methods for their effective translation to clinical use was extracted, and quality was assessed based on a set of predefined questions. RESULTS: From 4120 resulting references, 63 met the inclusion criteria. Thirty-one studies used supervised, and 32 used unsupervised machine learning methods. Artificial neural networks and k-means clustering were the most used methods in each category. The lack of rationale for features and algorithm selection, the use of unrepresentative datasets, and the lack of clinical interpretability of the clustering outputs were the main factors hindering the clinical reliability and applicability of these methods. SIGNIFICANCE: The literature offers numerous machine learning methods for clustering gait data from cerebral palsy and stroke patients. However, the clinical significance of the proposed methods is still lacking, limiting their translation to real-world applications. The design of future studies must take into account clinical question, dataset significance, feature and model selection, and interpretability of the results, given their criticality for clinical translation.

Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey.

BACKGROUND: Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency is characterized by unpredictable recurrent episodes of swelling affecting the skin and the mucosa tissues, including gastrointestinal tract and/or oropharyngeal-laryngeal mucosae. Long-term prophylaxis (LTP) is used to prevent attacks. OBJECTIVE: Because C1-INH plays a pivotal role in several biological pathways, we investigated the possible association of comorbidities with C1-INH deficiency and the use of LTP with attenuated androgens (AA) or tranexamic acid (TXA). METHODS: This retrospective cohort study involved adult patients with HAE referred to Milan and Padua angioedema centers in the period 1979-2021. A qualitative comparison was performed to analyze comorbidities versus general population. The incidence of comorbidities was evaluated during LTP with AA or TXA versus patients without LTP. RESULTS: A total of 446 patients were studied. A greater prevalence among patients was found for heart diseases (9.6% vs 4.8%), acute myocardial infarction (5.6% vs 1.4%), hepatitis C virus infection (10.5% vs 2.5%), and appendectomy (15.9% vs 4.3%). In patients taking AA, a greater incidence was found for hypertension (22.8% vs 10.8%; odds ratio [OR]: 2.02), hypercholesterolemia (19.5% vs 5.3%; OR: 3.97), diabetes mellitus (5% vs 1.4%; OR: 3.21), hepatic angioma (4.4% vs 0.7%; OR: 8.35), and focal nodular hyperplasia (2.5% vs 0.4%; OR: 6.9). No association between TXA and comorbidities was found. CONCLUSION: In this large patient population with a rare disease followed for up to a 43-year period, we found a greater prevalence of comorbidities hitherto unreported in the literature and an association between comorbidities and LTP with AA.

Short-term reduction of ankle spasticity after surgical lengthening of the triceps surae in chronic post-stroke patients: a retrospective cohort study.

Introduction: In post-stroke patients with equinovarus foot deformity (EVFD), soft tissue rearrangements may contribute to muscle overactivity when a muscle is stretched or tension is applied. Therefore, we investigated the effects of surgically restoring the triceps surae (TS) length and lengthening ability on TS spasticity. Methods: This retrospective study included chronic post-stroke patients who underwent neuro-orthopedic surgery inclusive of TS lengthening. TS spasticity was measured using the Modified Tardieu Scale (MTS) before and 1 month after surgery, both with the knee extended (KE) and flexed (KF). MTS variations were analyzed using the Wilcoxon test. The time from stroke onset was compared between patients with and without post-surgical spasticity using the t-test. Statistical significance was set at 5%. Results: A total of 120 patients with EVFD, aged 57 (12) years, ranging from 1 to 36 years from stroke, were included in the study. The median MTS_KE score significantly decreased from 3 (range 0-4) to 2 (0-4) (p < 0.001) after surgery. The MTS score decreased by ≥1 point in more than half of the sample. Notably, 19 and 32 patients were completely relieved from spasticity (MTS = 0) in the KE and KF conditions, respectively. Post-surgical spasticity did not depend on the time since stroke onset (p = 0.560). Discussion: TS lengthening led to a short-term reduction of spasticity in 41% and 63% of chronic post-stroke patients in the gastro-soleus complex and soleus, respectively, with complete relief observed in 21% and 30% of the sample. Surgical lengthening can be considered an effective treatment that not only restores joint range of motion but also may reduce spasticity, even in chronic patients.

A survey on the short to medium-term satisfaction of neurological patients treated by functional surgery for the correction of limb deformities.

OBJECTIVES: Functional surgery (FS) is often used to correct congenital or acquired deformities in neurological patients. Along with functional results, short- and medium-term patient satisfaction should always be considered a key goal of surgery and rehabilitation. The aim of this study is to assess the short to medium-term satisfaction of patients who underwent FS and its correlation with perceived improvements. METHODS: Invitation to an anonymous online survey was sent via e-mail to all neurological adult patients or caregivers of children who underwent lower or upper limb FS over the 2018-2020 period. The survey investigated patients' satisfaction with the surgery and the variation in pain, ADLs, level of independence, body image, self-esteem, social interaction skills, participation in social events, leisure activities and sports, and use of orthoses or walking aids. Descriptive data analysis was performed. Correlations were assessed using Kendall's tau. RESULTS: 122 out of 324 adults and 53 out of 163 children's caregivers filled out the questionnaire, with a response rate approaching 40%. Eighty-three percent of adult respondents and 87% of the children's caregivers were satisfied or very satisfied in the short and medium terms and reported their expectations had been met. Satisfaction was significantly correlated (p < 0.01) with improvements in functional abilities, social participation, self-esteem, and pain reduction. Half of the adults and 40% of children stopped using their orthoses or replaced them with lighter ones. Dissatisfaction and worsened conditions were reported by <10% of the respondents. CONCLUSION: According to patients and caregivers, FS was satisfactory in the short and medium terms, following improvements in all the ICF domains for most patients.

In this study, we studied the satisfaction of patients with neurological diseases and their caregivers about two years after having undergone surgery to correct lower and/or upper limb deformities. We mailed a specifically designed survey to adult patients and caregivers of children who had surgery at our hospital. The questionnaire asked about how satisfied they were with the surgery and if they felt any improvements in different domains: meeting previous expectations, pain level, daily activities, being autonomous, body image, self-esteem, social interaction, participation in social events, leisure activities, and the use of orthoses or walking aids. About 40% of the patients we contacted filled out the questionnaire. Most of them said they were happy with the results obtained and felt their pre-surgical expectations had been met. Satisfaction was associated with improvements in functional abilities, social participation, self-esteem, and lessening of pain. Many patients also stopped using orthoses or switched to lighter ones. Only a few people said they were not happy or felt worse after the surgery. These findings highlight the positive impact of surgery on patient well-being and motor abilities.

Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.

Objectives: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset ataxia characterized by cerebellar dysfunction, spasticity, and sensory-motor polyneuropathy due to variations in the SACS gene (13q11). To date, no studies have instrumentally assessed vestibular function in this condition. Methods: We report a 36-year-old woman with diagnosis of ARSACS syndrome due to homozygous mutation (c.12232 C>T, p.Arg4078Ter) in the SACS gene. Neurologic examination showed spastic-ataxic gait, dysarthric speech, 4-limb ataxia, and spastic hypertonia with lower limb hyperreflexia. Results: A vestibular instrumental evaluation including bedside oculomotor testing found gaze-evoked and rebound nystagmus on horizontal and vertical gaze, saccadic movements within normality ranges, saccadic pursuit, and slightly impaired visually enhanced vestibulo-ocular reflex (VVOR). A near-normal VOR suppression (VORS) was recorded. Neither head shakings, skull vibrations, nor supine positionings could evoke nystagmus. Finally, the video-head impulse test detected a symmetrical VOR impairment for all the semicircular canals (SCs), mostly involving the horizontal SCs, with corrective saccades in all planes. Discussion: Vestibular hypofunction may be found in ARSACS syndrome and may represent a possible pitfall in the differential diagnosis of recessive cerebellar and afferent ataxias. In this setting, ARSACS syndrome should be considered in the differential diagnosis of CANVAS.

Current practices in clinical gait analysis in Europe: A comprehensive survey-based study from the European society for movement analysis in adults and children (ESMAC) standard initiative.

BACKGROUND: Clinical gait analysis (CGA) is a systematic approach to comprehensively evaluate gait patterns, quantify impairments, plan targeted interventions, and evaluate the impact of interventions. However, international standards for CGA are currently lacking, resulting in various national initiatives. Standards are important to ensure safe and effective healthcare practices and to enable evidence-based clinical decision-making, facilitating interoperability, and reimbursement under national healthcare policies. Collaborative clinical and research work between European countries would benefit from common standards. RESEARCH OBJECTIVE: This study aimed to review the current laboratory practices for CGA in Europe. METHODS: A comprehensive survey was conducted by the European Society for Movement Analysis in Adults and Children (ESMAC), in close collaboration with the European national societies. The survey involved 97 gait laboratories across 16 countries. The survey assessed several aspects related to CGA, including equipment used, data collection, processing, and reporting methods. RESULTS: There was a consensus between laboratories concerning the data collected during CGA. The Conventional Gait Model (CGM) was the most used biomechanical model for calculating kinematics and kinetics. Respondents also reported the use of video recording, 3D motion capture systems, force plates, and surface electromyography. While there was a consensus on the reporting of CGA data, variations were reported in training, documentation, data preprocessing and equipment maintenance practices. SIGNIFICANCE: The findings of this study will serve as a foundation for the development of standardized guidelines for CGA in Europe.

Self-managed physical activity in breast cancer survivors: A scoping review.

OBJECTIVE: Breast cancer survivors (BCS) experience many issues of rehabilitative concern due to the treatments they have undergone. Given the chronicity of these outcomes, the increasing number of survivors, and the positive results obtained by supervised exercise, professionals should consider offering self-managed physical activity (PA) programs to this population. Our aim was to map the currently available evidence about self-care rehabilitation for BCS. METHODS: Medline, CINAHL, and Cochrane databases were searched for primary literature. Scoping review methodological frameworks were used to tackle the heterogeneity of the topic. Studies investigating self-managed PA interventions prescribed to adult BCS were included. RESULTS: One hundred-eight studies were included, with sample sizes ranging from 6 to 692 patients. Information was systematically collected in tables displaying study design, type of PA, duration and recommended frequency, professional leading the study, type of supervision, initial training, strategies used to help patients integrate self-care into their daily lives, and self-managed PA efficacy. Tables were produced for every oncological side effect that BCS might experience: lymphedema, arthralgia, cancer-related fatigue, a decline in physical parameters, treatment-related cardiotoxicity, peripheral neurotoxicity, and a possible decline in the quality of life. CONCLUSIONS: Self-managed PA has the potential to improve BCS oncological issues. Professionals can adopt many strategies to support patients and empower them with long-lasting self-care competencies. This scoping review provided a comprehensive and easy-to-consult overview of self-managed PA interventions for BCS. We also provided recommendations for future primary studies and secondary synthesis.