Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endosomal function. We performed whole-exome sequencing (WES) in 84 (78 unrelated) unsolved PME-affected individuals, with or without additional family members, to discover novel causes. We identified likely disease-causing variants in 24 out of 78 (31%) unrelated individuals, despite previous genetic analyses. The diagnostic yield was significantly higher for individuals studied as trios or families (14/28) versus singletons (10/50) (OR = 3.9, p value = 0.01, Fisher's exact test). The 24 likely solved cases of PME involved 18 genes. First, we found and functionally validated five heterozygous variants in NUS1 and DHDDS and a homozygous variant in ALG10, with no previous disease associations. All three genes are involved in dolichol-dependent protein glycosylation, a pathway not previously implicated in PME. Second, we independently validate SEMA6B as a dominant PME gene in two unrelated individuals. Third, in five families, we identified variants in established PME genes; three with intronic or copy-number changes (CLN6, GBA, NEU1) and two very rare causes (ASAH1, CERS1). Fourth, we found a group of genes usually associated with developmental and epileptic encephalopathies, but here, remarkably, presenting as PME, with or without prior developmental delay. Our systematic analysis of these cases suggests that the small residuum of unsolved cases will most likely be a collection of very rare, genetically heterogeneous etiologies.

Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks?

Regulatory agencies have recently discouraged the prescription of topiramate (TPM) to women of childbearing potential with epilepsy due to growing evidence of the teratogenic and neurodevelopmental risks associated with its use during pregnancy. It remains, however, unclear whether the use of TPM in this population can be supported to some extent by its high effectiveness. In this multicenter, retrospective, cohort study performed at 22 epilepsy centers, we investigated the comparative effectiveness of TPM and levetiracetam (LEV) given as first-line antiseizure medication in a cohort of women of childbearing potential with idiopathic generalized epilepsy (IGE). A total of 336 participants were included, of whom 24 (7.1%) received TPM and 312 (92.9%) LEV. Women treated with TPM had significantly higher risks of treatment failure and treatment withdrawal and were less likely to achieve seizure freedom at 12 months compared to women treated with LEV. In conclusion, this study highlighted a low tendency among clinicians to use TPM in women of childbearing potential with IGE, anticipating the recently released restrictions on its use. Furthermore, the available data on effectiveness do not appear to support the use of TPM in this population.

Exploring the knowledge, attitudes, and practices on sexual and gender minorities patients: a survey on Italian Neurologists.

BACKGROUND: Sexual and gender minorities (SGM) encompass individuals identifying as lesbian, gay, bisexual, transgender, and queer (LGBTQ). SGM patients experience difficulties in accessing healthcare and may face discrimination, impacting their overall health outcomes. Enhancing healthcare professionals' knowledge is the initial step in dismantling these barriers. MATERIALS AND METHODS: The study has been conducted on the neurologists of the Italian Society of Neurology (SIN). We utilized a survey instrument comprising 24 Likert-type questions to investigate knowledge, attitudes, and practices concerning sexual orientation and gender identity minorities. Likert scales were assessed with scores 1 and 2 as negative response, 3 as neutral, and 4 and 5 as positive responses. RESULTS: A total of 177 neurologists (103 women; 58.2%) participated, with a mean age of 44.3 ± 14.6 years answered the survey. Over half recognized sexual and gender orientation as social determinants of health, yet only a minority acknowledged the elevated prevalence of physical and mental health issues in SGM populations. Nearly, all respondents felt confident in examining a sexual minority patient, while only half felt the same regarding transgender patients. The majority of neurologists expressed a need for more comprehensive training and supervision in treating SGM patients. CONCLUSION: To enhance healthcare quality for SGM populations, healthcare professionals must receive appropriate training in how to approach, assess, and treat patients within this demographic.

Retinal Thickness in Essential Tremor and Early Parkinson Disease: Exploring Diagnostic Insights.

BACKGROUND: Essential tremor (ET) represents a heterogeneous condition which may overlap with Parkinson disease (PD) even at early stages, by sharing some subtle clinical aspects. Longstanding ET demonstrated also higher risk of developing PD, especially with a Tremor-dominant (TD-PD) phenotype. Therefore, differential diagnosis between ET and early PD could be quite challenging. Optical coherence tomography (OCT) has been recognized as a reliable tool to assess the retina as a proxy of neurodegeneration. We aimed to explore the possible role of retinal assessment in differential diagnosis between ET and early PD. METHODS: Macular layers and peripapillary retinal nerve fiber layer (RNFL) thickness among ET, early PD, and healthy controls (HCs) were assessed using OCT. RESULTS: Forty-two eyes from 23 ET, 41 eyes from 21 early PD, and 33 eyes from 17 HCs were analyzed. Macular RNFL, ganglion cell layer, inner plexiform layer, and inner nuclear layer were thinner in PD as compared with ET and even more in HCs. Differences between ET and PD were more evident when considering the TD-PD subgroup, especially for RNFL. Among ET patients, thickness of the inner macular layers showed negative linear relationship with both age at onset and disease duration. Peripapillary temporal quadrant thinning was found in ET compared with HCs. CONCLUSIONS: Macular inner retina was thinner in patients with ET and early PD compared with HCs. These findings suggest that the retinal assessment may have a utility in the differential diagnosis between ET and PD.

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with/without aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability. In female patients, multivariable logistic regression analysis revealed age at epilepsy onset, eyelid myoclonia status epilepticus, psychiatric comorbidities, and catamenial seizures as significant predictors of drug resistance. In male patients, a history of febrile seizures was the only predictor of drug resistance. Hence, our study reveals sex-specific differences in terms of both electroclinical features and prognostic factors. Our findings support the importance of a sex-based personalized approach in epilepsy care and research, especially in genetic generalized epilepsies.

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.

OBJECTIVE: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome. METHODS: In this multicenter retrospective cohort study, we included 267 EEM patients from 9 countries. Data about electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO). RESULTS: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EEM subgroups: early-onset (EO-EEM), intermediate-onset (IO-EEM) and late-onset subgroup (LO-EEM). EO-EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EEM was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO-EEM and LO-EEM compared with EO-EEM. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome. SIGNIFICANCE: Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians towards a more accurate classification and prognostic profiling of EEM patients.

Morphometric magnetic resonance imaging cortico-subcortical features in Parkinson's disease with mild cognitive impairment.

BACKGROUND AND PURPOSE: Parkinson's disease (PD) patients with cognitive impairment undergo progressive atrophy of several cortical and subcortical areas. The aim was to study the magnetic resonance imaging (MRI) morphometric features of PD patients with mild cognitive impairment (MCI). METHODS: Patients from the Parkinson's Disease Cognitive Impairment Study (PACOS) cohort with an available structural volumetric brain MRI and morphometric measurements of the midbrain and pons areas, middle cerebellar peduncle, superior cerebellar peduncle width and midbrain anteroposterior diameter (A-Pdiam) were included. MCI was diagnosed according to the Movement Disorder Society level II criteria. Additionally, cortical thickness analysis was performed and correlated with morphometric brainstem measurements. RESULTS: Morphometric measurements were available for 168 subjects, of whom 67 (39.9%) were diagnosed with PD-MCI. The mean age (± standard deviation) of the sample was 64.2 ± 9.8. Amongst patients, 84 (50%) were men with a disease duration of 5.2 ± 5.4 years and a Unified Parkinson's Disease Rating Scale-Motor Examination score of 32.1 ± 12.9. In the univariate and multivariate analysis, after adjusting for age, sex, years of schooling and disease duration, MCI was associated with midbrain area (odds ratio 0.98; 95% confidence interval 0.96-0.99; p = 0.048) and A-Pdiam (odds ratio 0.63; 95% confidence interval 0.46-0.86; p = 0.005). Furthermore, 121 PD patients underwent cortical thickness analysis, which showed the presence of cortical thinning in lateral orbitofrontal regions of patients with PD-MCI. No correlation was found between cortical thickness and brainstem morphometric measurements. CONCLUSIONS: A mild midbrain atrophy and the presence of frontal cortical thickness reduction might be considered a structural MRI feature of PD patients with MCI.

Toxoplasma gondii and multiple sclerosis: A systematic review and meta-analysis.

BACKGROUND AND PURPOSE: According to the hygiene hypothesis, infections by agents such as parasites have a protective role against the risk of developing multiple sclerosis (MS). Among parasites, Toxoplasma gondii, an intracellular parasite, showed evidence of a protective effect. This study was undertaken to summarize the available evidence on the association between T. gondii infection and MS. METHODS: A systematic review of all the available articles published up to November 2020 has been conducted independently by two investigators in the following databases: PubMed, Scopus, Lissa, and SciELO. The association between T. gondii infection and MS has been pooled with a random effects model. RESULTS: From 562 articles, seven were included in the systematic review and meta-analysis for a global population of 752 MS cases and 1282 controls. T. gondii infection was associated with MS with a pooled odds ratio of 0.68 (95% confidence interval = 0.50-0.93). CONCLUSIONS: The available evidence supports the hypothesis that T. gondii infection represents a protective factor against the development of MS.

The impact of COVID-19 pandemic on frail health systems of low- and middle-income countries: The case of epilepsy in the rural areas of the Bolivian Chaco.

INTRODUCTION: The Coronavirus disease 2019 (COVID-19) has put some health systems under pressure, especially in low- and middle-income countries. We aimed at evaluating the impact of COVID-19 emergency on the management of people with epilepsy (PWE) living in the rural communities of the Gran Chaco area of the Plurinational State of Bolivia. MATERIALS AND METHODS: We selected a sample of PWE living in the rural communities of the Bolivian Chaco. A standardized questionnaire was developed, consisting of six questions addressing drug availability, drug discontinuation, personnel responsible for drug retrieval during the lockdown, and the presence of seizures in the two months preceding the interview. Questionnaires were administered by community health workers of the rural health centers in September 2020. RESULTS: Seventy PWE (38 men, 54.3%; mean age 26.9 ±â€¯16.7) were interviewed. During the lockdown the large majority of them (n = 51, 73.9%) reported an irregular medication intake mainly due to the lack of antiseizure medications in the local health posts, leading to an increase in seizure frequency. CONCLUSION: The COVID-19 pandemic has unmasked the frailty of the Bolivian health system, especially for the management of chronic diseases such as epilepsy in the rural communities.

Usefulness of a smartphone application for the diagnosis of epilepsy: Validation study in high-income and rural low-income countries.

INTRODUCTION: In low- and middle-income countries (LMIC), the diagnosis of epilepsy should be made by Non-Physician Health Workers (NPHW) who are widely available in these settings. Recently a smartphone app (Epilepsy Diagnosis Aid) has been developed and validated to be used by NPHW, in order to confirm the diagnosis of epilepsy. The aim of our study was to perform a validation of the app in two different contexts: a hospital-based setting of a high-income country (HIC) and a population-based setting of the rural communities of a LMIC. MATERIAL AND METHODS: For the hospital-based setting, the app was administered to a sample of patients with epilepsy (PWE) and to a sample of subjects affected by syncope attending the epilepsy center of the University of Catania. For the population-based setting, performed in the rural communities of the Gran Chaco region in Bolivia,the app was administered by NPHW to a sample of PWE previously identified. Sensitivity and specificity were calculated for the diagnosis of epilepsy. RESULTS: In the hospital-setting, the app was administered to 100 PWE and 20 syncopes. A probability score > 80 showed a sensitivity of 76% (95%CI 66.4-84) and a specificity of 100% (95%CI 83.2-100) for the diagnosis of epilepsy; higher values were found for active epilepsy with tonic-clonic seizures. In the rural-setting, the app was administered to 38 PWE, giving a sensitivity of 92.1% (95%CI 78.6-98.3). CONCLUSION: The app for epilepsy could represent a valuable instrument, which can be easily employed by trained NPHW to diagnose epilepsy in primary health-care settings of LMIC.

Neuroanatomical changes in early Parkinson's disease with mild cognitive impairment: a VBM study; the Parkinson's Disease Cognitive Impairment Study (PaCoS).

INTRODUCTION: Mild cognitive impairment (MCI) is common in Parkinson's disease (PD), but the underlying pathological mechanism has not been fully understood. Voxel-based morphometry could be used to evaluate regional atrophy and its relationship with cognitive performances in early PD-MCI. PATIENTS AND METHODS: One hundred and six patients with PD were recruited from a larger cohort of patients, the Parkinson's Disease Cognitive Impairment Study (PaCoS). Subject underwent a T1-3D MRI and a complete clinical and neuropsychological evaluation. Patients were divided into PD with normal cognition (PD-NC) and PD-MCI according to the MDS level II criteria-modified for PD-MCI. A subgroup of early patients with short disease duration (≤ 2 years) was also identified. VBM analysis between PD-NC and PD-MCI and between early PD-NC and PD-MCI was performed using two-sample t tests with whole-brain statistical threshold of p < 0.001 uncorrected in the entire PD group and p < 0.05 FWE inside ROIs, in the early PD. RESULTS: Forty patients were diagnosed with MCI and 66 were PD-NC. PD-MCI patients showed significant gray matter (GM) reduction in several brain regions, including frontal gyrus, precuneus, angular gyrus, temporal lobe, and cerebellum. Early PD-MCI showed reduction in GM density in superior frontal gyrus and cerebellum. Moreover, correlation analysis between neuropsychological performances and GM volume of early PD-MCI patients showed associations between performances of Raven and superior frontal gyrus volume, Stroop time and inferior frontal gyrus volume, accuracy of Barrage and volume of precuneus. CONCLUSION: The detection of frontal and cerebellar atrophy, even at an early stage, could be used as an early marker of PD-related cognitive impairment.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. Mean age of onset was 28 years (range 12-51) with bimodal peaks in teenage and early adult life. The typical presentation was of progressive myoclonus epilepsy with debilitating myoclonic seizures and relatively infrequent tonic-clonic seizures. Patients became wheelchair-bound with a mean 12 years post-onset. Ataxia was the most prominent motor feature. Dementia appeared to be an invariable accompaniment, although it could take a number of years to manifest and occasionally cognitive impairment preceded myoclonic seizures. Patients were usually highly photosensitive on EEG. MRI showed progressive cerebral and cerebellar atrophy. The median survival time was 26 years from disease onset. Ultrastructural examination of the pathology revealed fingerprint profiles as the characteristic inclusions, but they were not reliably seen in tissues other than brain. Curvilinear profiles, which are seen in the late infantile form, were not a feature. Of the 13 unrelated families we observed homozygous CLN6 pathogenic variants in four and compound heterozygous variants in nine. Compared to the variant late infantile form, there was a lower proportion of variants that predicted protein truncation. Certain heterozygous missense variants in the same amino acid position were found in both variant late infantile and Kufs disease. There was a predominance of cases from Italy and surrounding regions; this was partially explained by the discovery of three founder pathogenic variants. Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. The diagnosis of Kufs remains challenging but, with the availability of genetic diagnosis, this will largely supersede the use of diagnostic biopsies, particularly as biopsies of peripheral tissues has unsatisfactory sensitivity and specificity.

Comic book-based educational program on epilepsy for high-school students: Results from a pilot study in the Gran Chaco region, Bolivia.

INTRODUCTION: In low- and middle-income countries (LMIC), epilepsy still represents a significant health challenge. In the Bolivian Chaco, we have previously found high levels of stigma towards people with epilepsy (PWE) especially expressed by high school students. In order to increase the knowledge about epilepsy, we have tested a comic book-based intervention on a sample of high school students. METHODS: The study has been conducted in the Bolivian Chaco region where two urban and two rural classrooms have been randomly selected. Students have been administered a knowledge, attitudes, and practices (KAP) questionnaire, and then they underwent a comic book-based educational program where they were randomly assigned either to an autonomous reading or a character interpretation methodology. The same KAP questionnaire has been administered after the teaching session and at a three months follow-up. Mean KAP scores at the baseline were compared with the after teaching and the three-month assessment. RESULTS: Eighty-three students with a mean age of 15.5 ±â€¯0.9 years, of whom 38 (45.8%) males, were recruited. After the comic book session, students improved in the global score (p < 0.001) and in the knowledge (p < 0.001), attitudes (p = 0.004), and practices (p < 0.001) subscores. Both the autonomous reading and the character interpretation groups significantly improved in the global score, but only the latter improved in all the subscores. At the three months follow-up, there were no differences in the global, knowledge, and attitudes subscores, compared with scores immediately after the intervention. CONCLUSION: Using a comic book to teach about epilepsy led to a significant improvement in the knowledge, attitudes, and practices about the disease in high school students of LMIC. This teaching strategy can be easily implemented in LMIC.

Lack of evidence for Toxocara infection in Italian myelitis patients.

Acute myelitis is a common neurological manifestation due to different causes, but in about 15-30% of cases its etiology remains unknown (idiopathic myelitis). Myelitis represents the most common manifestation of neurotoxocariasis, the infection of the human nervous system by larvae of the nematode Toxocara spp.; however, despite the high seroprevalence worldwide, its contribution to the burden of disease has not been assessed. We evaluated the presence of antibodies against Toxocara spp. in cerebrospinal fluid (CSF) from a sample of 28 patients with a diagnosis of idiopathic myelitis (N = 20) or encephalomyelitis (N = 8) who attended the Neurological Unit of the University Hospital of Catania, Sicily. Antibodies against Toxocara spp. were measured using a multiplex bead-based assay and Toxocara immunoblot using Toxocara canis excretory secretory antigens. All samples tested negative for the presence of anti-T. canis IgG antibodies. In this series, we found no evidence of a contribution of neurotoxocariasis to the burden of myelitis.

Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic review.

BACKGROUND: Vagal nerve stimulation (VNS) is an effective palliative therapy in drug-resistant epileptic patients and is also approved as a therapy for treatment-resistant depression. Depression is a frequent comorbidity in epilepsy and it affects the quality of life of patients more than the seizure frequency itself. The aim of this systematic review is to analyze the available literature about the VNS effect on depressive symptoms in epileptic patients. MATERIAL AND METHODS: A comprehensive search of PubMed, Medline, Scopus, and Google Scholar was performed, and results were included up to January 2020. All studies concerning depressive symptom assessment in epileptic patients treated with VNS were included. RESULTS: Nine studies were included because they fulfilled inclusion criteria. Six out of nine papers reported a positive effect of VNS on depressive symptoms. Eight out of nine studies did not find any correlation between seizure reduction and depressive symptom amelioration, as induced by VNS. Clinical scales for depression, drug regimens, and age of patients were broadly different among the examined studies. CONCLUSIONS: Reviewed studies strongly suggest that VNS ameliorates depressive symptoms in drug-resistant epileptic patients and that the VNS effect on depression is uncorrelated to seizure response. However, more rigorous studies addressing this issue are encouraged.

Eyelid myoclonia with absences: Electroclinical features and prognostic factors.

OBJECTIVE: Eyelid myoclonia with absences (EMA) is a syndrome characterized by eyelid myoclonia with or without absences, eye closure-induced generalized electroencephalographic (EEG) paroxysms and photosensitivity. Few data are available about the prognostic factors of this syndrome. The main objectives of our study were to describe the clinical and EEG features of a group of patients with EMA and to evaluate the presence of prognostic factors. METHODS: We retrospectively selected a cohort of patients with diagnosis of EMA evaluated in the epilepsy service of the Neurological Clinic of Catania, in the Neurology and Clinical Neurophysiopathology Unit of Oasi Research Institute, Troina and in the Regional Epilepsy Centre of Bianchi-Melacrino-Morelli Hospital of Reggio Calabria. We considered the features of the patients during the first year of disease, and at the last follow-up visit. We stratified the patients into two groups: "seizure-free", defined as the absence of seizures for at least 2 years, and "not seizure-free" and we evaluated the evolution of their characteristics and the presence of factors associated with outcome. RESULTS: We enrolled 51 patients (40 women (78%); mean age: 30.8 years ± 15.5 [range 10-79]). The mean follow-up time was 8.7 ± 5.8 years. Eleven patients (21.6%) achieved the condition of seizure-free. Family history of epilepsy was associated with the condition of seizure-free (P = 0.05). At the last follow-up visit, EEG photosensitivity and eye closure sensitivity were significantly associated with the condition of "not seizure-free". SIGNIFICANCE: The results of our study revealed that a positive family history of epilepsy might be associated with a better outcome in EMA. Furthermore, the persistence of photosensitivity and eye closure sensitivity might indicate persistence of seizures, offering an aid in therapeutic management.

Complexity of electrocortical activity as potential biomarker in untreated Parkinson's disease.

In Parkinson's disease (PD), the identification of instrumental biomarkers is crucial to evaluate disease susceptibility and motor stage. We evaluated self-similarity of electrocortical activity as expression of brain signal complexity in untreated PD, to investigate its possible role as a neurophysiological biomarker. We analyzed the data of 34 untreated PD subjects and 18 group-matched controls who underwent standardized electroencephalography. A Welch's periodogram was applied to site-specific electroencephalographic signal epochs. To investigate self-similarity of electrocortical activity, the power law exponent ß was computed for each selected coordinate. In both PD subjects and controls, ß values at each coordinate increased with an antero-posterior gradient, changing from values around one in fronto-temporal sites to values around two among parieto-occipital sites. PD subjects presented overall lower ß values among different sites compared to controls, with significant differences for the left fronto-temporal sites. Our findings suggest an increased level of fronto-temporal neuronal organization in untreated PD. We hypothesize a possible role of ß as a neurophysiological biomarker for early untreated PD.

Knowledge, stigma, and quality of life in epilepsy: Results before and after a community-based epilepsy awareness program in rural Bolivia.

INTRODUCTION: Epilepsy represents around 0.7% of the overall global burden of diseases and is particularly prevalent and associated with significant disability in low- and middle-income countries (LMIC) in Latin American Countries (LAC). A community-based epilepsy awareness program was carried out by our group in the rural areas of the Chaco region, Plurinational state of Bolivia, to improve the knowledge about epilepsy, with a first part directed toward general practitioners and a second part toward nurses and community health workers (CHWs) of the rural communities with a positive outcome. The objective of the study was to assess the level of knowledge, attitudes, and practices toward epilepsy, the stigma related to epilepsy and the quality of life in people with epilepsy (PWE) before and after the interventional campaign directed toward representative members of the rural communities in the Chaco region in Bolivia. METHODS: The study was conducted in three areas of Bolivia. Key subjects from each community were randomly selected. Before and after the courses they answered a questionnaire to assess their knowledge, attitudes, beliefs, and practices about epilepsy, a validated Stigma Scale of Epilepsy (SSE) and Quality of Life in Epilepsy Inventory-10 (QOLIE-10). RESULTS: Two hundred sixteen subjects were involved in the program. Only 133 (61.6%) subjects completed the questionnaires a month after the educational program. A significant improvement was recorded in knowledge, attitudes, and practices toward epilepsy, and a significant reduction was found in the mean SSE total score (38.3 ±â€¯14.7 vs. 28.5 ±â€¯12.3; p < 0.01), reflecting a reduction of stigma levels. Regarding the quality of life, after the training, PWE stated to experience less depression, memory difficulties, work or social issues, and seizure worry. CONCLUSION: Our study confirms that continuous educational campaigns can lead to a significant change in the social perception and attitudes toward epilepsy.

Patient perspectives on the acceptability of mHealth technology for remote measurement and management of epilepsy: A qualitative analysis.

BACKGROUND: Innovative uses of mobile health (mHealth) technology for real-time measurement and management of epilepsy may improve the care provided to patients. For instance, seizure detection and quantifying related problems will have an impact on quality of life and improve clinical management for people experiencing frequent and uncontrolled seizures. Engaging patients with mHealth technology is essential, but little is known about patient perspectives on their acceptability. The aim of this study was to conduct an in-depth qualitative analysis of what people with uncontrolled epilepsy think could be the potential uses of mHealth technology and to identify early potential barriers and facilitators to engagement in three European countries. METHOD: Twenty people currently experiencing epileptic seizures took part in five focus groups held across the UK, Italy, and Spain. Participants all completed written consent and a demographic questionnaire prior to the focus group commencing, and each group discussion lasted 60-120 min. A coding frame, developed from a systematic review of the previous literature, was used to structure a thematic analysis. We extracted themes and subthemes from the discussions, focusing first on possible uses of mHealth and then the barriers and facilitators to engagement. RESULTS: Participants were interested in mHealth technology as a clinical detection tool, e.g., to aid communication about seizure occurrence with their doctors. Other suggested uses included being able to predict or prevent seizures, and to improve self-management. Key facilitators to engagement were the ability to raise awareness, plan activities better, and improve safety. Key barriers were the potential for increased stigma and anxiety. Using familiar and customizable products could be important moderators of engagement. CONCLUSION: People with uncontrolled epilepsy think that there is a scope for mHealth technology to be useful in healthcare as a detection or prediction tool. The costs will be compared with the benefits when it comes to engagement, and ongoing work with patients and other stakeholders is needed to design practical resources.

Valproate and female patients: Prescribing attitudes of Italian epileptologists.

INTRODUCTION: After the European Medicines Agency (EMA) warning on the use of valproate (VPA) in female patients, we explored the antiepileptic drug (AED) prescribing attitudes of Italian epileptologists with regard to sex and VPA use in patients with epilepsy. MATERIAL AND METHODS: A specifically designed 30-item questionnaire was distributed at the annual multicenter meeting of the Italian League Against Epilepsy (LICE), held in Rome on January 2018. One hundred and sixty-nine physicians answered the questionnaire. RESULTS: In females, VPA was significantly less prescribed as first-choice AED in childhood absence epilepsy (22% females vs 64% males, p < 0.001), Dravet syndrome (54% vs 71%, p = 0.01), juvenile myoclonic epilepsy (JME) (2% vs 74%, p < 0.001), and undetermined epilepsy (0% vs 32%, p < 0.001). Ninety-six percent of the respondents inform teenage girls of the detrimental effects of intrauterine exposure to VPA; 74% recommend contraceptive measures when prescribing VPA. All the respondents stated that they were aware of the recommendations on VPA in female patients, and 64% claimed to have had difficulties in implementing them. CONCLUSIONS: The main challenges were represented by women with JME, who were seizure-free on VPA and failed to respond to levetiracetam and lamotrigine, and by little girls for whom VPA was considered the best choice. According to many Italian epileptologists, the decision to withdraw VPA should be shared with the patient.