'Knock down the brain': a nonlinear analysis of electroencephalography to study the effects of sub-concussion in boxers.

BACKGROUND AND PURPOSE: Boxing is associated with a high risk of head injuries and increases the likelihood of chronic traumatic encephalopathy. This study explores the effects of sub-concussive impacts on boxers by applying both linear and nonlinear analysis methods to electroencephalogram (EEG) data. METHODS: Twenty-one boxers were selected (mean ± SD, age 28.38 ± 5.5 years; weight 67.55 ± 8.90 kg; years of activity 6.76 ± 5.45; education 14.19 ± 3.08 years) and divided into 'beginner' and 'advanced' groups. The Montreal Cognitive Assessment and the Frontal Assessment Battery were administered; EEG data were collected in both eyes-open (EO) and eyes-closed (EC) conditions during resting states. Analyses of EEG data included normalized power spectral density (nPSD), power law exponent (PLE), detrended fluctuation analysis and multiscale entropy. Statistical analyses were used to compare the groups. RESULTS: Significant differences in nPSD and PLE were observed between the beginner and advanced boxers, with advanced boxers showing decreased mean nPSD and PLE (nPSD 4-7 Hz, p = 0.013; 8-13 Hz, p = 0.003; PLE frontal lobe F3 EC, p = 0.010). Multiscale entropy analysis indicated increased entropy at lower frequencies and decreased entropy at higher frequencies in advanced boxers (F3 EC, p = 0.024; occipital lobe O1 EO, p = 0.029; occipital lobe O2 EO, p = 0.036). These changes are similar to those seen in Alzheimer's disease. CONCLUSION: Nonlinear analysis of EEG data shows potential as a neurophysiological biomarker for detecting the asymptomatic phase of chronic traumatic encephalopathy in boxers. This methodology could help monitor athletes' health and reduce the risk of future neurological injuries in sports.

How the COVID-19 pandemic reshaped telepsychology: Insights from an Italian survey.

The coronavirus disease 2019 (COVID-19) pandemic rapidly boosted the introduction of certain changes in mental healthcare services, consequently driving up the adoption of remote care delivery options. We conducted an online Italian survey to evaluate telepsychology use, attitudes, acceptance, and training needs, as well as to understand patient-professional interactions in video-consultations, aiming to inform future mental healthcare practices and policies. The current study's survey responses were collected using an anonymous, self-reported questionnaire on the 'REDCap' platform from 25 October 2022 to 26 July 2023. In total, 128 mental health professionals and 113 patients completed the survey. In our sample, 69 % of patients and 79.7 % of mental health professionals reported having used telepsychology during COVID-19 pandemic; in particular, 84.6 % of patients and 95.1 % of professionals selected video-consultation modality. Data showed that participants expressed high satisfaction with this communication tool. The increase in satisfaction was directly proportional to increase in the quality of interactions and in relation to the quality of the experiences. The critical factors influencing the video-consultation experience include communication style, information completeness, patient-centredness, and the comfort underscoring the central role of the professional-patient relationship, which, substantially, remains a key element in the psychological treatment process. These findings reinforce the need for continued refinement and expansion of telepsychology services, thus highlighting the potential for integrating innovative technologies into mental health practise.

The Impact of COVID-19 on Neuropsychological and Emotional-Behavioural Development in a Group of 8- and 9-Year-Old Children.

Introduction: The rapid spread of the COVID-19 pandemic has had a significant impact on the psychological well-being of millions of people around the world, and even more so among children. Contracting SARS-CoV-2, resulting in home confinement and restrictions on daily and school activities, led to negative effects on the mental health of the paediatric population. Although children suffering from COVID-19 had milder general symptoms compared to adults, impairments in cognitive, neuropsychological, and emotional-behavioural development were noted. Objective: The main aim of the present study was to detect possible changes in the neuropsychological and emotional-behavioural development of children after infection with the SARS-CoV-2 virus. The second aim was to investigate possible relationships between cognitive abilities and psychosocial characteristics. Methods: A total of 40 patients aged 8-9 years were recruited and divided into two groups: children who contracted (CG) and did not contract (NCG) SARS-CoV-2. The BVN 5-11 (Neuropsychological evaluation battery for developmental age from 5 to 11 years) instrument was administered to assess attention, memory, verbal recall, planning, phonemics, and categorical fluency domains in the paediatric population. Data on changes in emotional-behavioural profile and daily activities were collected through a questionnaire to parents. Results: The Wilcoxon signed-rank test revealed a significant change in mood after the COVID-19 period only in the CG participants (p = 0.019). However, the neuropsychological performance of the two identified groups on BVN 5-11 sub-items was below the cutoff of clinical significance. Correlations were found between sub-items of the BVN 5-11 battery, extracurricular activities, and children's psycho-motor development. Significant positive correlations were observed between Naming on visual presentation and Reading time (p = 0.006), backward digit span and time of motor activity (p = 0.009), Visual attention and Reading time (p = 0.048), and Phonemic fluency and time observed using devices (p = 0.030). Positive statistically significant correlations were also found between Mood and Free behaviour (p = 0.000), between Mood and Structured behaviour (p = 0.005), and between Mood and peer Interaction (p = 0.013). Conclusions: SARS-CoV-2 infection negatively affected the emotional development of children contracting the virus. The neuropsychological functioning of the paediatric population was influenced by psychosocial variables and time spent on daily activities, which played a protective role in children's cognitive development.

The Protective Role of Cognitive Reserve: A Preliminary Study on Parkinsonian Patients Undergoing Deep Brain Stimulation.

Background/Objectives: High cognitive reserve (CR) has been shown to have beneficial effects on global cognition, cognitive decline, and risk of dementia in Parkinson's disease (PD). We evaluated the influence of CR on the long-term cognitive outcomes of patients with PD who underwent subthalamic nucleus deep brain stimulation (STN-DBS). Methods: Twenty-five patients with PD underwent neuropsychological screening using the Montreal Cognitive Assessment (MoCA) at baseline, 1 year, and 5 years after bilateral STN-DBS. CR was assessed using the Cognitive Reserve Index questionnaire. According to CR score, patients were assigned to two different groups (LowCR group ≤ 130, HighCR group > 130). Results: Our data showed that patients in the HighCR group obtained a better performance with the MoCA total score at long-term follow-up compared to those in the LowCR group ([mean ± SE] LowCR group: 21.4 ± 1.2 vs. HighCR group: 24.5 ± 1.3, p = 0.05). The cognitive profile of the HighCR group remained unchanged over time. Conversely, the LowCR group had worse global cognition 5 years after surgery (T0: 25.3 ± 0.6 vs. T2: 21.4 ± 1.2, p = 0.02). Cognitive decline was not associated with mood, demographics, or clinical variables. Conclusions: These preliminary findings suggest that higher CR may be protective in PD cognition after STN-DBS. Specifically, a high CR may help cope with long-term decline in the context of surgical treatment. Quantifying a patient's CR could lead to more personalized medical care, tailoring postoperative support and monitoring for those at higher risk of cognitive decline.

Retrospective study on neonatal seizures in a tertiary center of northern Italy after ILAE classification: Incidence, seizure type, EEG and etiology.

OBJECTIVE: We aimed to evaluate epidemiology, seizure type, EEG, and etiology of neonatal seizures (NS) in a tertiary neonatal intensive care unit. METHODS: Data on infants with a neurophysiological confirmation of NS were collected between 2009 and 2022. Seizure types and epileptic syndromes were classified by the ILAE classification and EEG by the Italian Neonatal Seizure Collaborative Network (INNESCO) score. RESULTS: Out of 91,253 neonates, 145 presented with NS; 69.7 % were born at term and 30.3 % were preterm infants. The incidence of NS in neonates born at our center was 1.2 per 1,000 live newborns (96/80697 neonates) while in the entire neonatal population admitted to our center it was 1.6 per 1,000 live births, increasing with lower preterm age. Compared to previous studies, we found a lower proportion of hypoxic-ischemic encephalopathy (HIE) (23.4 %) and a higher rate of genetic contribution (26.2 %). The infection rate was higher in preterm (31.8 %) than in full term (9.9 %) infants. Electrographic seizures were associated with acute provoked seizures (35.9 %), preterm age (52.3 %), and HIE (52.9 %). Vascular etiology was associated with focal clonic seizures (56.8 %). Non-structural neonatal genetic epilepsy was associated with sequential seizures (68.2 %), particularly KCNQ2 and SCN2A epilepsy. Background EEG was abnormal in all HIE, infections (85.7 %) and metabolic NS (83.3 %). In genetic epilepsy, background EEG depended on the epileptic syndrome: normal in 80 % of self-limited neonatal epilepsy and abnormal in 77.8 % of developmental and epileptic encephalopathy. Electroclinical seizures were associated with focal onset, while electrographic seizures correlated with a multifocal onset. CONCLUSIONS: A low incidence of HIE and a high incidence of genetic etiology were observed in our cohort of NS. Seizure type and EEG features are fundamental to address etiology.

Beyond pain: the influence of psychological factors on functional status in fibromyalgia.

OBJECTIVES: Fibromyalgia (FM) is characterised by chronic widespread pain, often associated with fatigue, sleep disturbance, cognitive and mood impairment. Pain is a complex and multidimensional experience that significantly impacts personal, social, and professional functioning. Psychological factors related to chronic pain include catastrophising and self-efficacy in managing the painful condition. Therefore, this study explores the influence of chronic pain and related psychological factors on functional outcomes in FM patients. METHODS: In this study, 91 Italian patients with FM were assessed using an online questionnaire. The questionnaire included instruments to assess pain, such as the Numerical Rating Scale (NRS) and the Brief Pain Inventory (BPI), psychological characteristics, such as the Pain Self-Efficacy Questionnaire (PSEQ) and the Pain Catastrophizing Scale (PCS), and health-related quality of life with the 12-item Short Form Survey (SF-12). Multiple regression models were run, using the Interference subscale of the BPI and the physical and mental components of the SF-12 as outcomes, and the NRS, PCS and PSEQ scales as predictors. RESULTS: Our analysis revealed that in our model, both PCS and PSEQ were significant predictors of BPI-Interference (PCS: ß=0.29; p=0.001; PSEQ: ß=-0.36; p<0.001); NRS and PSEQ significantly predicted SF-12-Physical score (NRS: ß=-0.32; p=<0.001; PSEQ: ß=.50; p<0.001); PCS was found to be the only significant predictor of SF-12-Mental scores (ß=-0.53; p<0.001). CONCLUSIONS: Our results suggested that psychological variables such as catastrophic thinking and self-efficacy play a significant role in determining daily functioning and physical and mental health status in FM patients, showing greater influence than pain intensity.

Does botulinum toxin affect psycho-social aspects in dystonia?

Dystonia is a movement disorder in which sustained muscle contractions give rise to abnormal postures or involuntary movements. It is a disabling and disfiguring disorder that affects activities of daily living and gives people a bizarre appearance often associated with psychological morbidity, embarrassment and social avoidance. Intramuscular injection of botulinum toxin (BoNT) is the most effective treatment for motor symptoms in focal dystonia, but little is known about its impact on the psycho-social dimension. The main aim of this study was to evaluate psycho-social changes in patients with focal dystonia after starting BoNT treatment using self-reported scales. The Beck Depression Inventory (BDI-II), the 36-Item Short Form Health Survey (SF-36), the Body Uneasiness Test (BUT), the State-Trait Anxiety Inventory (STAI) and the Visual Analogue Scale (VAS) assessing body self-image, satisfaction with physical aspects, social avoidance, self-reported depression, and self-distress were completed by 11 patients with dystonia and 9 patients with hyperhidrosis as a control group before BoNT (T0). VAS was then performed after four weeks (T1) to assess whether BoNT induced changes in the psychosocial dimension. Our results showed that only depressive symptoms and rumination about body defects improved in patients with dystonia after BoNT treatment, while improvement in self-distress and satisfaction with physical aspects was also found in hyperhidrosis. Individuals with hyperhidrosis experience poorer psychological well-being and suffer from higher levels of distress compared to dystonic patients. This suggests that individuals with this disabling condition are more vulnerable to social impact than dystonic patients.

Longitudinal Feasibility of the Montreal Cognitive Assessment (MoCA) in Non-Demented ALS Patients.

INTRODUCTION: The present study aimed at testing the longitudinal feasibility of the Montreal Cognitive Assessment (MoCA) in an Italian cohort of non-demented amyotrophic lateral sclerosis (ALS) patients. METHODS: N = 39 non-demented ALS patients were followed-up at a 5-to-10-month interval (M = 6.8; SD = 1.4) with the MoCA and the Edinburgh Cognitive and Behavioral ALS Screen (ECAS). Practice effects, test-retest reliability, and predictive validity (against follow-up ECAS scores) were assessed. Reliable change indices (RCIs) were derived via a regression-based approach by accounting for retest interval and baseline confounders (i.e., demographics, disease duration, and severity and progression rate). RESULTS: At retest, 100% and 69.2% of patients completed the ECAS and the MoCA, respectively. Patients who could not complete the MoCA showed a slightly more severe and fast-progressing disease. The MoCA was not subject to practice effects (t[32] = -0.80; p = 0.429) and was reliable at retest (intra-class correlation = 0.82). Moreover, baseline MoCA scores predicted the ECAS at retest. RCIs were successfully derived - with baseline MoCA scores being the only significant predictor of retest performances (ps < 0.001). CONCLUSIONS: As long as motor disabilities do not undermine its applicability, the MoCA appears to be longitudinally feasible at a 5-to-10-month interval in non-demented ALS patients. However, ALS-specific screeners - such as the ECAS - should be preferred whenever possible.

An exploratory study on counterfactual thinking in amyotrophic lateral sclerosis.

Objectives: This study aimed at exploring (1) the motor and non-motor correlates of counterfactual thinking (CFT) abilities in non-demented amyotrophic lateral sclerosis (ALS) patients and (2) the ability of CFT measures to discriminate these patients from healthy controls (HCs) and patients with and without cognitive impairment. Methods: N = 110 ALS patients and N = 51 HCs were administered two CFT tasks, whose sum, resulting in a CFT Index (CFTI), was addressed as the outcome. Patients further underwent an in-depth cognitive, behavioral, and motor-functional evaluation. Correlational analyses were run to explore the correlates of the CFTI in patients. Logistic regressions were performed to test whether the CFTI could discriminate patients from HCs. Results: The CFTI was selectively associated (p ≤ 0.005) with fluency and memory subscales of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), but not with other variables. CFTI scores discriminated patients from HCs (p < 0.001) with high accuracy (82%), but not patients with a normal vs. defective performance on the ECAS-Total. Conclusion: CFT measures in non-demented ALS patients were associated with verbal fluency and memory functions, and they were also able to discriminate them from HCs.

GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.

Developmental and epileptic encephalopathy 45 (DEE45) is a neurogenetic disorder caused by heterozygous pathogenic variants of GABRB1, encoding the beta1 subunit of the GABA type A receptor. Only three infants with DEE45 have been reported so far, and a detailed description of the disease history of these patients is still lacking. We describe the clinical and genetic findings of a 21-year-old woman with DEE45 carrying a novel de novo GABRB1 mutation (c.841A>G, p.T281A). The patient presented at birth with hypotonia and focal apneic seizures evolving in a phenotype of epilepsy of infancy with migrating focal seizures that were refractory to antiseizure medications. Epileptic spasms partially responsive to steroid therapy appeared in the second year of life. Acquired microcephaly, profound mental retardation, and tetraparesis became evident with development. During childhood and adolescence, the epileptic phenotype evolved toward a Lennox-Gastaut Syndrome. Atypical absence status and clusters of tonic seizures occurred, often triggered by respiratory infections. The main strengths of this work are the identification of a novel pathogenic GABRB1 variant localized in the same transmembrane domain of a previously described mutation and the detailed description of the clinical trajectory of GABRB1-related encephalopathy along 21 years of disease history.

Role of expectations in clinical outcomes after deep brain stimulation in patients with Parkinson's disease: a systematic review.

Deep brain stimulation (DBS) is a well-established treatment that significantly improves the motor symptoms of patients with Parkinson's disease (PD); however, patients may experience post-operative psychological distress and social maladjustments. This phenomenon has been shown to be related to patients' pre-operative cognitive representations, such as expectations. In this systematic review, we discuss the findings on the role of the expectations of patients with PD regarding the clinical outcomes of DBS to identify areas of intervention to improve pre-operative patient education and promote successful post-operative psychosocial adjustment. PubMed was searched for relevant articles published up to 16 January 2023. Of the 84 identified records, 10 articles focusing on the treatment expectations of patients with PD undergoing DBS were included in this review. The selected studies were conducted among cohorts of patients with different DBS targets, among which the most common was the bilateral subthalamic nucleus. Overall, the data showed that patients' expectations contribute to treatment efficacy. Experiments investigating the placebo effect itself have shown clinical improvement after the induction of positive therapeutic expectations; conversely, unrealistic treatment expectations can affect patient satisfaction after surgery, clinical outcomes, and subjective well-being. This review highlights the need for routine clinical practice to better investigate and manage patients' pre-operative expectations, as well as multidisciplinary education to improve patient satisfaction and psychosocial adjustment after DBS.

Telemedicine for cognitive impairment: a telephone survey of patients' experiences with neurological video consultation.

OBJECTIVE: This study aimed to evaluate the experience with telemedicine in patients with cognitive impairments and their caregivers. METHODS: We conducted a survey-based study of patients who completed neurological consultation via video link between January and April 2022. RESULTS: A total of 62 eligible neurological video consultations were conducted for the following categories of patients: Alzheimer's disease (33.87%), amnesic mild cognitive impairment (24.19%), frontotemporal dementia (17.74%), Lewy body dementia (4.84%), mixed dementia (3.23%), subjective memory disorders (12.90%), non-amnesic mild cognitive impairment (1.61%), and multiple system atrophy (1.61%). The survey was successfully completed by 87.10% of the caregivers and directly by the patients in 12.90% of cases. Our data showed positive feedback regarding the telemedicine experience; both caregivers and patients reported that they found neurological video consultation useful (caregivers: 87.04%, 'very useful'; patients: 87.50%, 'very useful') and were satisfied overall (caregivers: 90.74%, 'very satisfied'; patients: 100%, 'very satisfied'). Finally, all caregivers (100%) agreed that neurological video consultation was a useful tool to reduce their burden (Visual Analogue Scale mean ± SD: 8.56 ± 0.69). CONCLUSIONS: Telemedicine is well received by patients and their caregivers. However, successful delivery incorporates support from staff and care partners to navigate technologies. The exclusion of older adults with cognitive impairment in developing telemedicine systems may further exacerbate access to care in this population. Adapting technologies to the needs of patients and their caregivers is critical for the advancement of accessible dementia care through telemedicine.

Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS).

The present study aimed at deriving, by means of a traditional "2 standard deviation-based" (2SD) approach, single task-level cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS). Cutoffs were derived - as M-2*SD - from the sample of healthy participants (HPs) included within 2016 Poletti et al.'s normative study - N = 248; 104 males; age: 57.8 ± 10.6; education: 14.1 ± 4.6 - separately for the four, original demographic classes: 1) education <14 years and age ≤60 years; 2) education <14 years and age >60 years; 3) education ≥14 years and age ≤60 years; 4) education ≥14 years and age >60 years. The prevalence of deficits on each task was then estimated within a cohort of N = 377 amyotrophic lateral sclerosis (ALS) patients without dementia. The distribution of abnormal performance prevalences was overall consistent with the cognitive phenotype of ALS. In conclusion, the single task-level cutoffs herewith provided for the Italian version of the ECAS, which complement those already available within Poletti et al.'s normative framework, will help better profile Italian ALS patients' cognitive phenotype within both clinical and research settings.

Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.

Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive myopathy due to biallelic pathogenic variants in ATP2A1, encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase SERCA1. About 40 patients have been reported so far. Our knowledge about the natural history of this disorder, genotype-phenotype correlations and the effect of symptomatic treatment is partial. This results in incomplete recognition and underdiagnosis of the disease. Here, we report the clinical, instrumental, and molecular features of two siblings presenting childhood-onset exercise-induced muscle stiffness without pain. Both the probands display difficulty in climbing stairs and running, frequent falls, delayed muscle relaxation after exertion. Cold temperatures worsen these symptoms. No myotonic discharges were observed at electromyography. Whole Exome Sequencing analysis in the probands revealed the presence of two ATP2A1 variants: the previously reported frameshift microdeletion c.2464delC and the likely pathogenic novel splice-site variant c.324 + 1G > A, whose detrimental effect was demonstrated in ATP2A1 transcript analysis. The bi-allelic inheritance was verified by Sanger sequencing in the unaffected parents. This study expands the molecular defects associated with Brody myopathy.

Machine Learning Assessment of Spasmodic Dysphonia Based on Acoustical and Perceptual Parameters.

Adductor spasmodic dysphonia is a type of adult-onset focal dystonia characterized by involuntary spasms of laryngeal muscles. This paper applied machine learning techniques for the severity assessment of spasmodic dysphonia. To this aim, 7 perceptual indices and 48 acoustical parameters were estimated from the Italian word /a'jwɔle/ emitted by 28 female patients, manually segmented from a standardized sentence and used as features in two classification experiments. Subjects were divided into three severity classes (mild, moderate, severe) on the basis of the G (grade) score of the GRB scale. The first aim was that of finding relationships between perceptual and objective measures with the Local Interpretable Model-Agnostic Explanations method. Then, the development of a diagnostic tool for adductor spasmodic dysphonia severity assessment was investigated. Reliable relationships between G; R (Roughness); B (Breathiness); Spasmodicity; and the acoustical parameters: voiced percentage, F2 median, and F1 median were found. After data scaling, Bayesian hyperparameter optimization, and leave-one-out cross-validation, a k-nearest neighbors model provided 89% accuracy in distinguishing patients among the three severity classes. The proposed methods highlighted the best acoustical parameters that could be used jointly with GRB indices to support the perceptual evaluation of spasmodic dysphonia and provide a tool to help severity assessment of spasmodic dysphonia.

Clinical usability of the Story-Based Empathy Task (SET) in non-demented ALS patients.

BACKGROUND: This study aimed at assessing the clinical usability of the Story-Based Empathy Task (SET) in non-demented amyotrophic lateral sclerosis (ALS) patients. METHODS: N = 106 non-demented ALS patients and N = 101 healthy controls (HCs) were administered the SET, which includes three subtests assessing Emotion Attribution (SET-EA), Intention Attribution (SET-IA) and causal inference (SET-CI) - the latter being a control task. Patients also underwent the Reading the Mind in the Eyes Test (RMET), the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) and a thorough behavioural and motor-functional evaluation. The diagnostics of the SET-EA and -IA were tested against a defective performance on the RMET. The association between SET subtests and cognitive/behavioural outcomes was examined net of demographic and motor-functional confounders. Case-control discrimination was explored for each SET subtest. RESULTS: Demographically adjusted SET-EA and -IA scores accurately detected defective RMET performances at the optimal cutoffs of <3.04 (AUC = .84) and <3.61 (AUC = .88), respectively. By contrast, the SET-CI performed poorly in doing so (AUC = .58). The SET-EA converged with the RMET, as well as with ECAS-Executive and -Memory scores, whilst the SET-IA was unrelated to cognitive measures (including the RMET); the SET-CI was related to the ECAS-Language the ECAS-Executive. SET subscores were unrelated to behavioural outcomes. Only the SET-EA discriminated patients from HCs. CONCLUSIONS: The SET as a whole should not be addressed as a social-cognitive measure in this population. At variance, its subtest tapping on emotional processing - i.e., the SET-EA - is recommended for use as an estimate of social-cognitive abilities in non-demented ALS patients.