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.

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.

Can total electrical energy (TEED) after subthalamic DBS alter verbal fluency in Parkinson's disease patients? A preliminary evidence.

OBJECTIVE: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) improves motor outcomes in Parkinson's disease (PD) but may have adverse long-term effects on specific cognitive domains. The aim of this study was to investigate the association between total electrical energy (TEED) delivered by DBS and postoperative changes in verbal fluency. METHODS: Seventeen PD patients undergoing bilateral STN-DBS were assessed with the Alternate Verbal Fluency Battery (AVFB), which includes phonemic (PVF), semantic (SVF), and alternate verbal fluency (AVF) tests, before surgery (T0) and after 6 (T1) and 12 months (T2). Bilateral TEED and average TEEDM were recorded at T1 and T2. For each AVFB measurement, changes from T0 to T1 (Δ-01) and from T0 to T2 (Δ-02) were calculated. RESULTS: At T1, PVF (p = 0.007) and SVF scores (p = 0.003) decreased significantly. TEED measures at T1 and T2 were unrelated to Δ-01 and Δ-02 scores, respectively. However, an inverse, marginally significant association was detected between the TEEDM and Δ-01 scores for the AVF (p = 0.041, against an αadjusted = 0.025). CONCLUSIONS: In conclusion, the present reports provide preliminary evidence that TEED may not be responsible or only slightly responsible for the decline in VF performance after STN-DBS in PD.

Psychometrics and diagnostics of the Italian version of the Alternate Verbal Fluency Battery (AVFB) in non-demented Parkinson's disease patients.

BACKGROUND: Verbal fluency (VF) tasks are known as suitable for detecting cognitive impairment (CI) in Parkinson's disease (PD). This study thus aimed to evaluate the psychometrics and diagnostics of the Alternate Verbal Fluency Battery (AVFB) by Costa et al. (2014) in an Italian cohort of non-demented PD patients, as well as to derive disease-specific cut-offs for it. METHODS: N = 192 non-demented PD patients were screened with the Montreal Cognitive Assessment (MoCA) and underwent the AVFB-which includes phonemic, semantic and alternate VF tests (PVF; SVF; AVF), as well as a Composite Shifting Index (CSI) reflecting the "cost" of shifting from a single- to a double-cued VF task. Construct validity and diagnostics were assessed for each AVFB measure against the MoCA. Internal reliability and factorial validity were also tested. RESULTS: The MoCA proved to be strongly associated with PVF, SVF and AVF scores, whilst moderately with the CSI. The AVFB was internally consistent and underpinned by a single component; however, an improvement in both internal reliability and fit to its factorial structure was observed when dropping the CSI. Demographically adjusted scores on PVF, SVF and AVF tests were diagnostically sound in detecting MoCA-defined cognitive impairment, whilst this was not true for the CSI. Disease-specific cut-offs for PVF, SVF and AVF tests were derived. DISCUSSION: In conclusion, PVF, SVF and AVF tests are reliable, valid and diagnostically sound instruments to detect cognitive impairment in non-demented PD patients and are therefore recommended for use in clinical practice and research.

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.

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.

Energy Delivered by Subthalamic Deep Brain Stimulation for Parkinson Disease Correlates With Depressive Personality Trait Shift.

OBJECTIVES: Despite the large amount of literature examining the potential influence of subthalamic nucleus deep brain stimulation (STN-DBS) on psychiatric symptoms and cognitive disorders, only a few studies have focused on its effect on personality. We investigated the correlation between total electrical energy delivered (TEED) and the occurrence of depressive traits in patients with Parkinson disease (PD) after one year of DBS. MATERIALS AND METHODS: Our study involved 20 patients with PD (12 women, mean [±SD] age 57.60 ± 7.63 years) who underwent bilateral STN-DBS, whose personality characteristics were assessed using the Minnesota Multiphasic Personality Inventory-2 (MMPI-2), according to the core assessment program for surgical interventional therapies in Parkinson's disease (CAPSIT-PD) procedure. RESULTS: We found that despite a marked improvement in motor functions and quality of life after 12 months, patients showed a significant increase in MMPI-2 subscales for depression (D scale and Depression scale) and in other content component scales (low self-esteem, work interference, and negative treatment indicators). Interestingly, only the TEED on the right side was inversely correlated with the changes in scale D (rs = -0.681, p = 0.007), whereas depressive traits did not correlate with disease duration, levodopa equivalent daily dose (LEDD) reduction, patient's age, or severity of motor symptoms. CONCLUSIONS: Our preliminary observations indicate that despite the excellent motor outcome and general improvement in quality of life, DBS treatment can result in patients poorly adjusting to their personal, familiar, and socio-professional life. Different influences and multiple factors (such as TEED, intra/postsurgical procedure, coping mechanisms, and outcome expectations) may affect depressive traits. Further advances are expected to improve stimulation methods.

Anodal Transcranial Direct Current Stimulation over the Cerebellum Enhances Sadness Recognition in Parkinson's Disease Patients: a Pilot Study.

Emotional processing impairments, resulting in a difficulty to decode emotions from faces especially for negative emotions, are characteristic non-motor features of Parkinson's disease (PD). There is limited evidence about the specific contribution of the cerebellum to the recognition of emotional contents in facial expressions even though patients with cerebellar dysfunction often lose this ability. In this study, we aimed to evaluate whether the recognition of facial expressions can be modulated by cerebellar transcranial direct current stimulation (tDCS) in PD patients. Nine PD patients were enrolled and received anodal and sham tDCS (2 mA, 20 min), for 5 consecutive days, in two separate cycles at intervals of at least 1 month. The facial emotion recognition task was administered at baseline (T0) and after cerebellar tDCS on day 5 (T1). Our preliminary study showed that anodal cerebellar tDCS significantly enhanced emotional recognition in response to sad facial expressions by about 16%, but left recognition of anger, happiness, and neutral facial expressions unchanged. Despite the small sample size, our preliminary results show that anodal tDCS applied for five consecutive days over the cerebellum modulates the way PD patients recognize specific facial expressions, thus suggesting that the cerebellum plays a crucial role in recognition of negative emotions and corroborating previous knowledge on the link between social cognition and the cerebellum.

Ecological Validity of the Montreal Cognitive Assessment in Non-Demented Parkinson's Disease Patients.

BACKGROUND: The ecological validity of performance-based cognitive screeners needs to be tested in order for them to be fully recommended for use within clinical practice and research. OBJECTIVES: The objective of this study was to examine, within an Italian cohort of non-demented Parkinson's disease (PD) patients, the ecological validity of the Montreal Cognitive Assessment (MoCA) by assessing its association with (1) functional independence (FI), (2) quality of life (QoL), and (3) behavioural-psychological (BP) outcomes. METHODS: Seventy-four non-demented PD patients were administered the MoCA and underwent motor functional - i.e., Unified Parkinson's Disease Rating Scale (UPDRS), Modified Hoehn-Yahr Scale (HY), and Schwab and England Scale (SES) -, behavioural and psychological - i.e., State- and Trait-Anxiety Inventory-Form Y (STAI-Y1/-Y2), Beck Depression Inventory (BDI), and Dimensional Apathy Scale (DAS) - and QoL evaluations - i.e., MOS 36-Item Short Form Health Survey (SF-36). Associations of interest against FI, QoL, and BP outcomes were tested via Bonferroni-corrected Pearson's/Spearman's correlations while covarying for demographics, disease duration as well as UPDRS-III, UPDRS-IV, and HY scores. Intake of psychotropic drugs was also covaried when assessing the association between the MoCA and BP/QoL measures. RESULTS: MoCA scores were significantly associated with the SES (rs(73) = 0.34; p = 0.005) and the DAS-Executive (r(67) = -0.47; p < 0.001), while not to other FI/BP outcomes and QoL measures. CONCLUSIONS: The MoCA is a valid estimate of daily life functional autonomy in non-demented PD patients, also reflecting apathetic features of a dysexecutive nature.

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 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.

Home-Based Treatment for Chronic Pain Combining Neuromodulation, Computer-Assisted Training, and Telemonitoring in Patients With Breast Cancer: Protocol for a Rehabilitative Study.

BACKGROUND: Chronic pain is a disabling symptom frequently reported in patients with breast cancer with a prevalence ranging from 25% to 60%, representing a major health issue. It has negative consequences on health status, causing psychological distress and affecting quality of life. Furthermore, the clinical management of chronic pain is often inadequate, and many patients do not benefit from the administration of pharmacological treatments. Alternative therapeutic options have been implemented to improve the psychophysical well-being of patients, including neuromodulation and complementary interventions. OBJECTIVE: We aimed to investigate the effectiveness of a home care strategy combining computerized rehabilitation, transcranial direct current stimulation (tDCS), and remote telemonitoring via a web-based platform in patients with breast cancer suffering for chronic pain. METHODS: A web-based structured survey aimed at monitoring chronic pain and its effect on psychological functions will be delivered to patients with breast cancer through social media and email. In total, 42 patients with breast cancer affected by chronic pain will be recruited during the medical screening visit. The patients will be randomly divided into 3 treatment groups that will carry out either tDCS only, exercise therapy only, or a combination of both over a 3-week period. All the treatments will be delivered at the patients' home through the use of a system including a tablet, wearable inertial sensors, and a tDCS programmable medical device. Using web-based questionnaires, the perception of pain (based on the pain self-efficacy questionnaire, visual analogue scale, pain catastrophizing scale, and brief pain inventory) and psychological variables (based on the hospital and anxiety depression scale and 12-item short form survey) will be assessed at the beginning of treatment, 1 week after the start of treatment, at the end of treatment, 1 month after the start of treatment, and 3 months after the start of treatment. The system's usability (based on the mobile app rating scale and system usability scale) and its involvement in the decision-making process (based on the 9-item shared decision-making questionnaire) will be also evaluated. Finally, at the end of the treatment, a digital focus group will be conducted with the 42 patients to explore their unexpressed needs and preferences concerning treatment. RESULTS: The study project is scheduled to start in June 2023, and it is expected to be completed by August 2025. CONCLUSIONS: We expect that the combination of tDCS and telemedicine programs will reduce pain perceived by patients with breast cancer and improve their mental well-being more effectively than single interventions. Furthermore, we assume that this home-based approach will also improve patients' participation in routine clinical care, reducing disparities in accessing health care processes. This integrated home care strategy could be useful for patients with breast cancer who cannot find relief from chronic pain with pharmacological treatments or for those who have limited access to care due to poor mobility or geographical barriers, thus increasing the patients' empowerment and reducing health care costs. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/49508.

Brain tumours in the time of COVID-19: An online survey on patients' disease experience in one Italian region.

Background: Since the outbreak, in 2019, of COVID-19, the world has experienced marked changes in daily habits, partly reflecting the exceptional social restrictions and health measures adopted to contain the disease. All these measures significantly affected not only peoples's daily lives and psychological well-being but also the possibility for the healthcare system to function properly. In this setting, brain tumour patients were at risk due to their higher physical and mental fragility and their need for regular care. The aim of the present study was to assess, using a self-reported online questionnaire, the patients's perceptions regarding their disease experience. Materials and methods: We developed an online anonymous self-report survey to assess patients's disease experience during the pandemic. We investigated the impact of the COVID-19 pandemic on patients's cancer care schedules, their psychological distress and emotions felt during the pandemic, their levels of worry about COVID-19, and their oncological conditions. Results: 107 patients answered our survey, most of them suffering from a glioma. Less than one-third of the sample had their appointments cancelled, delayed or converted into online visits due to the pandemic. Of the patients who answered the survey, 95% declared they were satisfied with their Institute's oncological management. The feelings reported most often were peacefulness or anxiety/worry; the majority of the sample reported high levels of loneliness, which tended to increase with age, whilst the psychological distress was correlated with age and with having a recurrence of the disease. Half of the sample declared severe worry about their oncological condition, in particular subjects with a recurrence or who were receiving adjuvant therapies. Patients with recurrence tended to worry more about the possibility of contracting COVID-19, and its effects. Conclusion: Our findings illustrate how fragile and in need of care patients with a brain tumour may be, especially those with more severe clinical conditions. These data may help boost healthcare professionals's knowledge about brain tumour patients's needs and fears, so as to be able to offer them a better hospital experience and improve their clinical management, while possibly also reducing the psychological burden on patients and their families.

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.

The Effects of a New Integrated and Multidisciplinary Cognitive Rehabilitation Program Based on Mindfulness and Reminiscence Therapy in Patients with Parkinson's Disease and Mild Cognitive Impairment: A Pilot Study.

Background: Mindfulness trainings have shown promising results as treatment for behavioural symptoms in several pathologies. In addition, mindfulness protocols induced an improvement in memory and attention. Therefore, mindfulness could be an effective intervention for patients affected by Parkinson's disease (PD) and mild cognitive impairment (MCI), who are characterized by both behavioural and cognitive dysfunctions. Methods: We assessed differences in Montreal Cognitive Assessment (MoCA) scores and in Beck Depression Inventory II (BDI-II) scores in patients affected by PD and MCI enrolled in two different rehabilitation programs (an experimental vs. an usual structured program for cognitive rehabilitation). Participants in the experimental group (MILC-tr) underwent innovative rehabilitation program involving mindfulness and reminiscence activities. Assessments were performed before (T0) and at the end of the rehabilitation program (T1). Results: Friedman test showed a significant improvement between timepoints in MoCA global score (x2 = 4.000, p = 0.046), MoCA memory sub-scale score (x2 = 4.571, p = 0.033), and BDI-II cognitive and affective factors (x2 = 4.000, p = 0.046) only for patients in MILC-tr group. Mann-Whitney test showed a significant difference between group comparing differences in Δ scores between T0 and T1 in the MoCA memory sub-scale score (U = 190.50, p = 0.035). Conclusions: Mindfulness-based rehabilitation programs could be effective in patients affected by PD and MCI.

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.

Changes in non-motor symptoms in patients with Parkinson's disease following COVID-19 pandemic restrictions: A systematic review.

This review discussed the effects of the impact of the Coronavirus Disease 2019 (COVID-19) pandemic on the psychological wellbeing of people with Parkinson's disease (PD) focusing specifically on depressive symptoms, anxiety levels, sleep, and quality of life (QoL). Together with motor symptoms, psychological symptoms are common and disabling conditions in the clinical course of PD becoming a relevant topic as a result of the lockdown measure due to alter their everyday life. We searched on PubMed online electronic databases for English articles published between January 2020 and 31 December 2021. Twenty-eight relevant studies were found and included in the review. Heterogeneous data emerged from the topics analyzed. Overall, data from depression studies showed significant depressive symptoms if the patient was analyzed longitudinally or vs. a control group consisting in healthy subjects, while these differences become minimal when the control group is a family member. Differently, in most of the studies reviewed there is no evidence of a statistically significant impact on anxiety disorders, nor on the quality of sleep. Conversely, PD patients showed a statistically significant negative impact of QoL compared with control groups or other neurological conditions. Although these findings must be interpreted carefully in the light of the studies' limitations, both in methodology and design, collectively our review showed that COVID-19 pandemic has had negative effects on the mental health of people with PD, due to disruption of healthcare services, loss of usual activities and supports and reduction in physical activity.

EEG Evaluation of Stress Exposure on Healthcare Workers During COVID-19 Emergency: Not Just an Impression.

Psychological distress among healthcare professionals, although already a common condition, was exacerbated by the COVID-19 pandemic. This effect has been generally self-reported or assessed through questionnaires. We aimed to identify potential abnormalities in the electrical activity of the brain of healthcare workers, operating in different roles during the pandemic. Cortical activity, cognitive performances, sleep, and burnout were evaluated two times in 20 COVID-19 frontline operators (FLCO, median age 29.5 years) and 20 operators who worked in COVID-19-free units (CFO, median 32 years): immediately after the outbreak of the pandemic (first session) and almost 6 months later (second session). FLCO showed higher theta relative power over the entire scalp (FLCO = 19.4%; CFO = 13.9%; p = 0.04) and lower peak alpha frequency of electrodes F7 (FLCO = 10.4 Hz; CFO = 10.87 Hz; p = 0.017) and F8 (FLCO = 10.47 Hz; CFO = 10.87 Hz; p = 0.017) in the first session. FLCO parietal interhemispheric coherence of theta (FLCO I = 0.607; FLCO II = 0.478; p = 0.025) and alpha (FLCO I = 0.578; FLCO II = 0.478; p = 0.007) rhythms decreased over time. FLCO also showed lower scores in the global cognitive assessment test (FLCO = 22.72 points; CFO = 25.56; p = 0.006) during the first session. The quantitative evaluation of the cortical activity might therefore reveal early signs of changes secondary to stress exposure in healthcare professionals, suggesting the implementation of measures to prevent serious social and professional consequences.

The Impact of Telemedicine on Parkinson's Care during the COVID-19 Pandemic: An Italian Online Survey.

Traditionally, medical care and research in Parkinson's disease (PD) have been conducted through in-person visit. The recent Coronavirus Disease 2019 (COVID-19) pandemic has profoundly impacted the delivery of in-person clinical care. We conducted an online survey to investigate the impact of COVID-19 on access to telehealth care, interviewing both PD patients and neurologists. Survey responses were collected from 1 March to 31 May 2021 through an anonymous, self-reported questionnaire, on the 'Qualtrics' platform. In total, 197 patients and 42 neurologists completed the survey. In our sample, 37.56% of PD patients and 88.10% of neurologists reported having used alternatives to in-person visits, while 13.70% of PD patients and 40.48% of neurologists used telemedicine. Data showed that respondents were generally satisfied with the use of telemedicine during the COVID-19 pandemic. The relational dimension between patient and neurologist seems to be the factor that most positively affected the telemedicine experience, contributing greatly to a more patient-centred care. Current findings suggest the need to improve the access to telehealth services for patients with PD. The technology has the potential to improve the care of frail patients, especially when availability of face-to-face visits is limited.

Alternate fluency in Parkinson's disease: A machine learning analysis.

OBJECTIVE: The aim of the present study was to investigate whether patients with Parkinson's Disease (PD) had changes in their level of performance in extra-dimensional shifting by implementing a novel analysis method, utilizing the new alternate phonemic/semantic fluency test. METHOD: We used machine learning (ML) in order to develop high accuracy classification between PD patients with high and low scores in the alternate fluency test. RESULTS: The models developed resulted to be accurate in such classification in a range between 80% and 90%. The predictor which demonstrated maximum efficiency in classifying the participants as low or high performers was the semantic fluency test. The optimal cut-off of a decision rule based on this test yielded an accuracy of 86.96%. Following the removal of the semantic fluency test from the system, the parameter which best contributed to the classification was the phonemic fluency test. The best cut-offs were identified and the decision rule yielded an overall accuracy of 80.43%. Lastly, in order to evaluate the classification accuracy based on the shifting index, the best cut-offs based on an optimal single rule yielded an overall accuracy of 83.69%. CONCLUSION: We found that ML analysis of semantic and phonemic verbal fluency may be used to identify simple rules with high accuracy and good out of sample generalization, allowing the detection of executive deficits in patients with PD.