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OBJECTIVE: This study was undertaken to assess the effectiveness/tolerability of adjunctive cenobamate, variations in the load of concomitant antiseizure medications (ASMs) and predictors of clinical response in people with focal epilepsy. METHODS: This was a retrospective study at 21 centers participating in the Italian Expanded Access Program. Effectiveness outcomes included retention and responder rates (≥50% and 100% reduction in baseline seizure frequency). Tolerability/safety outcomes included the rate of treatment discontinuation due to adverse events (AEs) and their incidence. Total drug load was quantified as the number of concomitant ASMs and total defined daily dose (DDD). Concomitant ASMs were also classified according to their mechanism of action and pharmacokinetic interactions to perform explorative subgroup analyses. RESULTS: A total of 236 subjects with a median age of 38 (Q1-Q3 = 27-49) years were included. At 12 months, cenobamate retention rate was 78.8% and responders were 57.5%. The seizure freedom rates during the preceding 3 months were 9.8%, 12.2%, 16.3%, and 14.0% at 3, 6, 9, and 12 months. A higher percentage of responders was observed among subjects treated with clobazam, although the difference was not statistically significant. A total of 223 AEs were recorded in 133 of 236 participants, leading to cenobamate discontinuation in 8.5% cases. At 12 months, a reduction of one or two concomitant ASMs occurred in 42.6% and 4.3% of the subjects. The median total DDD of all concomitant ASMs decreased from 3.34 (Q1-Q3 = 2.50-4.47) at baseline to 2.50 (Q1-Q3 = 1.67-3.50) at 12 months (p < .001, median percentage reduction = 22.2%). The highest rates of cotreatment withdrawal and reductions in the DDD were observed for sodium channel blockers and γ-aminobutyric acidergic modulators (above all for those linked to pharmacokinetic interactions), and perampanel. SIGNIFICANCE: Adjunctive cenobamate was associated with a reduction in seizure frequency and in the burden of concomitant ASMs in adults with difficult-to-treat focal epilepsy. The type of ASM associated did not influence effectiveness except for a favorable trend with clobazam.
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BACKGROUND: Carbamazepine (CBZ) is a first-choice anti-seizure medication (ASM) whose efficacy is often invalidated by adverse effects (AEs). Eslicarbazepine (ESL) is a structural derivative of CBZ with better pharmacokinetic/tolerability profiles. We describe our experience of the overnight CBZ to ESL switch in people with epilepsy (PwE) to improve seizure control, AEs, and ASMs adherence. METHODS: We retrospectively included 19 PwE (12 females, 53 ± 21 years old) who underwent CBZ to ESL overnight switch due to single/multiple issues: poor efficacy (pEff, N = 8, 42%), tolerability (pToll, N = 11, 58%), adherence (pAdh, N = 2, 10%). 9/19 (47%) had psychiatric comorbidities. Clinical variables, seizure frequency, and AEs were recorded at switch time (T0) after 3.5 ± 3 (T1) and 6.5 ± 1.5 months (T2). RESULTS: At T1, in pEff group, 1/8 (13%) was seizure free, 2/8 (25%) were responders (> 50% seizure reduction), 2/8 (25%) had no seizure changes, 3/8 (37%) had seizure worsening; the latter were those with the most severe epilepsy and encephalopathy. In pToll group, all PwE experienced AEs disappearance/amelioration. In pAdh group, all PwE reported adherence amelioration. Four dropouts. At T2, no changes were recorded within groups, while in the whole sample, 6/15 (40%) were responders, and 4/15 (27%) were seizure-free. No one complained of Powered by Editorial Manager® and ProduXion Manager® from Aries Systems Corporation psychiatric worsening, while 6/19 (32%) experienced mood/behavior benefits. CONCLUSIONS: CBZ to ESL overnight switch offers an opportunity to improve efficacy, tolerability, adherence, and psychiatric symptoms.
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Anticonvulsivantes , Carbamazepina , Dibenzazepinas , Epilepsia , Humanos , Feminino , Carbamazepina/uso terapêutico , Carbamazepina/análogos & derivados , Masculino , Estudos Retrospectivos , Pessoa de Meia-Idade , Anticonvulsivantes/uso terapêutico , Dibenzazepinas/uso terapêutico , Adulto , Epilepsia/tratamento farmacológico , Idoso , Substituição de Medicamentos , Adesão à Medicação , Resultado do Tratamento , Adulto JovemRESUMO
INTRODUCTION: High-density EEG (hdEEG) is a validated tool in presurgical evaluation of people with epilepsy. The aim of this national survey is to estimate diffusion and knowledge of hdEEG to develop a network among Italian epilepsy centers. METHODS: A survey of 16 items (and 15 additional items) was distributed nationwide by email to all members of the Italian League Against Epilepsy and the Italian Society of Clinical Neurophysiology. The data obtained were analyzed using descriptive statistics. RESULTS: A total of 104 respondents were collected from 85 centers, 82% from the Centre-North of Italy; 27% of the respondents had a hdEEG. The main applications were for epileptogenic focus characterization in the pre-surgical evaluation (35%), biomarker research (35%) and scientific activity (30%). The greatest obstacles to hdEEG were economic resources (35%), acquisition of dedicated personnel (30%) and finding expertise (17%). Dissemination was limited by difficulties in finding expertise and dedicated personnel (74%) more than buying devices (9%); 43% of the respondents have already published hdEEG data, and 91% of centers were available to participate in multicenter hdEEG studies, helping in both pre-processing and analysis. Eighty-nine percent of respondents would be interested in referring patients to centers with established experience for clinical and research purposes. CONCLUSIONS: In Italy, hdEEG is mainly used in third-level epilepsy centers for research and clinical purposes. HdEEG diffusion is limited not only by costs but also by lack of trained personnel. Italian centers demonstrated a high interest in educational initiatives on hdEEG as well as in clinical and research collaborations.
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Epilepsia , Humanos , Eletroencefalografia , Epilepsia/diagnóstico , Itália , Inquéritos e QuestionáriosRESUMO
Cenobamate (CNB) is a new anti-seizure medication (ASM) recently introduced in clinical practice after approval by the FDA and EMA for the add-on treatment of focal onset seizures in adult patients. Although its mechanism of action has not been fully understood, CNB showed promising clinical efficacy in patients treated with concomitant ASMs. The accessibility of CNB could pave a way for the treatment of refractory or drug-resistant epilepsies, which still affect at least one-third of the patients under pharmacological treatment. In this context, therapeutic drug monitoring (TDM) offers a massive opportunity for better management of epileptic patients, especially those undergoing combined therapy. Here, we describe the first fully validated ultra-high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) method for the quantification of CNB and concomitant ASMs in human plasma, with samples extracted either manually or by means of a liquid handler. Our method was validated according to the most recent ICH International Guideline M10 for Bioanalytical Method Validation and Study Sample Analysis. The method proved to be selective for CNB and displayed a linear range from 0.8 to 80 mg/L; no matrix effect was found (98.2 ± 4.1%), while intra-day and inter-day accuracy and precision were within the acceptance range. Also, CNB short- and long-term stability in plasma under different conditions was assessed. Leftover human plasma samples were employed as study samples for method validation. Our method proved to be highly sensitive and selective to quantify CNB and concomitant ASMs in human plasma; therefore, this method can be employed for a routinely TDM-based approach to support physicians in the management of an epileptic patient.
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Clorofenóis , Epilepsia , Tetrazóis , Adulto , Humanos , Cromatografia Líquida de Alta Pressão/métodos , Espectrometria de Massas em Tandem/métodos , Carbamatos , Epilepsia/tratamento farmacológico , Reprodutibilidade dos TestesRESUMO
The well-known neuroprotective role and involvement of vitamin D in the function of the central nervous system has raised the speculation about the possible antiseizure effect of vitamin D supplementation. This issue is crucial when considering people with epilepsy (PWE), who frequently display vitamin D deficiency, but nowadays data are still unconclusive. In our study, we enrolled 25 adult patients affected by drug-resistant epilepsy and hypovitaminosis D to test the effect of Calcifediol on seizure frequency after 6 months of supplementation. Our findings evidenced that Calcifediol administration completely restored 25-hydroxy vitamin D (25-OHD) and intact parathyroid hormone (iPTH) serum values (p < 0.001 for both) without significant changes of median seizure frequency (-6.1%). Anyway, we observed some rate of PWE responders (32%) to Calcifediol supplementation. Further randomized controlled trials with larger subjects 'samples will be needed to verify the possible antiseizure effect of vitamin D.
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Epilepsia Resistente a Medicamentos , Epilepsia , Deficiência de Vitamina D , Adulto , Humanos , Calcifediol , Suplementos Nutricionais , Vitamina D/uso terapêutico , Vitaminas , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Hormônio Paratireóideo , Convulsões/tratamento farmacológico , Epilepsia/tratamento farmacológico , Epilepsia Resistente a Medicamentos/tratamento farmacológicoRESUMO
To determine the effects of Levetiracetam (LEV) therapy using EEG microstates analysis in a population of newly diagnosed Temporal Lobe Epilepsy (TLE) patients. We hypothesized that the impact of LEV therapy on the electrical activity of the brain can be globally explored using EEG microstates. Twenty-seven patients with TLE were examined. We performed resting-state microstate EEG analysis and compared microstate metrics between the EEG performed at baseline (EEGpre) and after 3 months of LEV therapy (EEGpost). The microstates A, B, C and D emerged as the most stable. LEV induced a reduction of microstate B and D mean duration and occurrence per second (p < 0.01). Additionally, LEV treatment increased the directional predominance of microstate A to C and microstate B to D (p = 0.01). LEV treatment induces a modulation of resting-state EEG microstates in newly diagnosed TLE patients. Microstates analysis has the potential to identify a neurophysiological indicator of LEV therapeutic activity. This study of EEG microstates in people with epilepsy opens an interesting path to identify potential LEV activity biomarkers that may involve increased neuronal inhibition of the epileptic network.
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Epilepsia do Lobo Temporal , Humanos , Epilepsia do Lobo Temporal/tratamento farmacológico , Levetiracetam , Eletroencefalografia , Mapeamento Encefálico , Encéfalo/fisiologiaRESUMO
PURPOSE: In March 2020, the World Health Organization declared the SARS-CoV-2 infection-related coronavirus Disease (COVID-19) a pandemic. During the first and second waves of the pandemic spread, there have been several reports of COVID-19-associated neurological manifestations, including acute seizures and status epilepticus (SE). In this systematic review, we summarized the available data on clinical features, diagnosis, and therapy of COVID-19-related SE. METHODS: We performed a systematic search of the literature to identify data on demographics, clinical, neurophysiological, and neuroradiological data of patients with COVID-19-related SE. We used regression models (linear or logistic) with a stepwise forward method to identify features associated with mortality or severity of SE. RESULTS: Thirty-nine articles were included with a total of 47 cases of SE associated with COVID-19. Age, time between the acute respiratory phase of SARS-CoV-2 infection and SE onset, and hospitalization correlated with a higher SE severity as assessed by quantitative validated scales. CONCLUSIONS: SE can be a neurological manifestation of SARS-CoV-2 infection. Although a possible association between SE and COVID-19 has been reported, the exact mechanisms are still not fully understood. Systemic inflammatory syndrome due to cytokine release could play a role in COVID-19-related SE.
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COVID-19 , Estado Epiléptico , Humanos , Pandemias , SARS-CoV-2 , Convulsões , Estado Epiléptico/diagnóstico , Estado Epiléptico/epidemiologia , Estado Epiléptico/etiologiaRESUMO
PURPOSE: To assess quality of life (QoL) in adult people with epilepsy (PWE) and identify the main factors affecting it. METHODS: We enrolled consecutively 122 PWE. They were interviewed for a careful collection of demographic and clinical data. Patients completed dedicated questionnaires for the assessment of the quality of life (Quality of Life in Epilepsy Scale-31) (Q31) as well as psychosocial features: depressive symptoms (DS) (Beck Depression Inventory-II/BDI-II), difficulties of emotion regulation (Difficulties of Emotion Regulation Scale/DERS), and stigma related to epilepsy (Stigma Scale of Epilepsy/SSE and Jacoby's Stigma Scale/JSS). The results of Q31 and their subscales were correlated with clinical details of PWE, as well as the other scores. A stepwise multiple regression analysis was applied to identify the main factors affecting QoL. RESULTS: Quality of life is inversely correlated mostly with psychosocial features, as DS, emotion dysregulation, and stigma perception, as well as with epilepsy-related factors, as the seizure frequency and number of antiseizure medications (ASMs). The combination of DS, perceived stigma, and number of ASMs best explained the QoL. Worse features of QoL were detected in females and in patients with age of epilepsy onset in adulthood. CONCLUSION: Quality of life in adult PWE is predominantly affected by psychosocial factors more than epilepsy-related ones. These findings suggest that effective epilepsy management requires more than seizure control, and early detection of psychological dysfunction and tailored interventions to improve the QoL should be considered.
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Epilepsia , Qualidade de Vida , Adulto , Depressão , Feminino , Humanos , Convulsões , Estigma Social , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The aim of the present systematic revision is to analyze existing published reports about the use of home-videos recordings (HVRs) to support physicians in the differential diagnosis of paroxysmal seizure-like episodes (PSLE). We also developed practical recommendations in order to ensure adequate quality standards and safety advice for HVRs. MATERIAL AND METHODS: A comprehensive search of PubMed, Medline, Scopus, and Google Scholar was performed, and results were included up to July 2020. All studies concerning the use of HVRs as a diagnostic tool for patients presenting PSLE were included. RESULTS: Seventeen studies satisfied all inclusion and exclusion criteria and were considered for the review. A consistent boost in diagnostic and clinical decision-making was reported across all studies in the literature. One study found that HVRs decreased the stress level in many families and improved their quality of life. Training in performing good-quality videos is necessary and increases the diagnostic value of HVRs. CONCLUSIONS: HVRs can be of diagnostic value in epilepsy diagnosis and management. HVRs are low cost, widespread, and may provide great support for neurologists. It is important to train patients and caregivers in performing good quality videos to optimize this useful tool and to guarantee safety standards during the recording.
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Epilepsia , Qualidade de Vida , Epilepsia/diagnóstico , Humanos , Neurologistas , Convulsões/diagnóstico , Gravação em VídeoRESUMO
OBJECTIVE: The concept of alexithymia refers to difficulty perceiving, identifying, and describing emotions. We aimed at evaluating the prevalence of alexithymia in a sample of adult people with epilepsy (PWE) with and without psychogenic nonepileptic seizures (PNES) and healthy control subjects (HC) and identifying major factors able to affect it. MATERIALS AND METHODS: We enrolled consecutively 91 PWE (12 of which with PNES in addition to seizures) and 146 HC age- and gender-matched. Both groups' subjects completed the following questionnaires: TAS-20, Beck Depression Inventory-II (BDI-II), Difficulties in Emotion Regulation Scale (DERS) and the Italian translation of Stigma Scale of Epilepsy (SSE), able to evaluate stigma related to epilepsy both in epileptic and nonepileptic subjects. Moreover, PWE completed the well-known Jacoby's Stigma Scale (JSS), dedicated to the evaluation of stigma only by patients with epilepsy and QOLIE-31 (Q31) for evaluating the quality of life. We analyzed correlations between alexithymia and several epilepsy-related (seizure frequency, antiseizure medications-ASMs) and psychosocial factors. Finally, a stepwise multiple regression analysis was performed to identify major factor affecting alexithymia in both groups. RESULTS: Alexithymia was prevalent in PWE compared to controls (17.6% of alexithymic subjects in PWE vs 11% in HC), without discriminating epileptic subjects with and without PNES. This predominance disappeared when depressive symptoms (DS) were controlled for. The difficulties of identifying feelings and emotions resulted to be clearly higher in PWE, even when DS are controlled for, and significantly correlated with stigma perception. Alexithymia in PWE was also strongly associated with lower quality of life and education and greater number of ASMs and difficulties in emotion regulation (ER), that turned out to be the main factor affecting alexithymia in both groups (PWE and HC). CONCLUSIONS: Alexithymia is prevalent in PWE, mostly influenced by DS and significantly associated with worse quality of life and higher emotion dysregulation and stigma perception. The latter finding could be explained by difficulty identifying emotions (DIE) that selectively characterizes PWE.
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Sintomas Afetivos , Epilepsia , Adulto , Sintomas Afetivos/etiologia , Emoções , Epilepsia/complicações , Humanos , Itália/epidemiologia , Qualidade de VidaRESUMO
OBJECTIVE: The objective of the study was to assess depressive symptoms (DS) and difficulties in emotion regulation (ER) in adult people with epilepsy (PWE) and their correlation with quality of life and stigmatization feelings of patients. MATERIALS AND METHODS: We enrolled consecutively 110 PWE who completed the Beck Depression Inventory-II (BDI-II) questionnaire and, for the first time, the Italian translation of Difficulties in Emotion Regulation Scale (DERS) to evaluate DS and ER. They also fulfilled the Italian version of the Stigma Scale of Epilepsy (SSE), which allowed the quantification of the stigma perception by our cohort of patients and a 3-item Jacoby's Stigma Scale (JSS) and QOLIE-31 (Q31) for the evaluation of stigma and the quality of life. The results of BDI-II and DERS were correlated with clinical details of PWE, as well as the Q31 and SSE scores. Finally, a multiple stepwise regression analysis was applied to identify the main factors affecting DS and ER difficulties in these patients. RESULTS: About 30% of PWE evidenced DS, of which 17.3% showed a BDI-II score higher than 19, suggestive of moderate to severe DS. Several factors related to epilepsy (seizure frequency, number of antiepileptic drugs (AEDs)) as well as ER and quality of life/stigmatization perception resulted significantly correlated with DS. As a new finding, the main factors affecting DS in PWE turned out to be the difficulties in ER and quality of life and stigma perception (as evaluated through Q31 and JSS scores). CONCLUSIONS: Our findings evidenced that DS in PWE are highly prevalent and strongly correlated with ER difficulties that mostly influence DS together with quality of life and stigma perception. Depressive symptoms and emotion dysregulation are linked by a bidirectional relationship and are significantly associated with worse quality of life and higher stigmatization feelings.
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Depressão/psicologia , Regulação Emocional/fisiologia , Epilepsia/psicologia , Qualidade de Vida/psicologia , Estigma Social , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Estudos de Coortes , Depressão/diagnóstico por imagem , Depressão/epidemiologia , Epilepsia/diagnóstico por imagem , Epilepsia/epidemiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVE: During the Covid-19 pandemic, government restrictions limited health care to urgent needs. Neurophysiology centers had to suddenly reschedule their activities, with a lack of specific recommendations about electroencephalography (EEG) execution. During the pandemic phase 1, we launched an online survey to understand the flaws and strengths of the EEG management in Italy at the time of Covid-19 pandemic. METHODS: A 45-item online survey (published from April 16 to 30, 2020), endorsed by the Italian Society of Clinical Neurophysiology (SINC), the Italian League Against epilepsy (LICE), and the Italian Association of Neurophysiology technologists (AITN), collected EEG management data (EEG's number and type, indications, personnel and patients safety, devices' sanification) during the Covid-19 pandemic. RESULTS: We received responses from 206 centers. The number of EEGs performed was reduced by 76 ± 20%, and several types of specific EEG (video-EEG, ambulatory-EEG, LTM, polysomnography) were reduced at a minimum. Half of the centers performed inpatient EEGs only for urgencies. Repetitive seizures, encephalitis, and non-convulsive status epilepticus were the most common indications. Covid-19-positive patients received less EEG than negative ones (p < 0.0001). EEG requests came mainly not only from neurologists (n = 176) but also from general practitioners (n = 40), emergentists (n = 79), intensivists (n = 72), and other specialists (n = 53). Those centers which continued performing outpatient EEG examinations were instructed to perform the EEG after a Covid-19-related symptom screening for patients and using personal protective equipment (PPE) through all the procedure. Inpatient EEGs were performed using FFP2/FFP3 masks by neurophysiology technologists in only 50% of cases. Patients executed hyperventilation only for real clinical needs, but often (56%) with a mask. CONCLUSIONS: Italian neurophysiology centers strongly adhered to government restrictions of lockdown. Some issues emerged, ranging from the evaluation of a proper indication for EEG, technical procedures of EEG recording, and protection of neurophysiology technicians.
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Infecções por Coronavirus , Eletroencefalografia , Neurofisiologia , Pandemias , Pneumonia Viral , Quarentena , Betacoronavirus , COVID-19 , Eletroencefalografia/métodos , Eletroencefalografia/normas , Eletroencefalografia/estatística & dados numéricos , Humanos , Itália , Neurofisiologia/métodos , Neurofisiologia/normas , Neurofisiologia/estatística & dados numéricos , Equipamento de Proteção Individual/normas , SARS-CoV-2 , Inquéritos e QuestionáriosRESUMO
BACKGROUND: During COVID-19 lockdown, non-urgent medical procedures were suspended. Grade of urgency of electroencephalography (EEG) may vary according to the clinical indication, setting, and status of infection of SARS-CoV-2 virus. "Italian Society of Clinical Neurophysiology" (SINC), "Italian League Against Epilepsy" (LICE), and the "Italian Association of Neurophysiology Technologists" (AITN) aimed to provide clinical and technical recommendation for EEG indications and recording standards in this pandemic era. METHODS: Presidents of SINC, LICE, and AITN endorsed three members per each society to formulate recommendations: classification of the degree of urgency of EEG clinical indications, management and behavior of physicians and neurophysiology technologists, hygiene and personal protection standards, and use of technical equipment. RESULTS: Scientific societies endorsed a paper conveying the recommendation for EEG execution in accordance with clinical urgency, setting (inpatients/outpatients), status of SARS-CoV-2 virus infection (positive, negative and uncertain), and phase of governmental restrictions (phase 1 and 2). Briefly, in phase 1, EEG was recommended only for those acute/subacute neurological symptoms where EEG is necessary for diagnosis, prognosis, or therapy. Outpatient examinations should be avoided in phase 1, while they should be recommended in urgent cases in phase 2 when they could prevent an emergency room access. Reduction of staff contacts must be encouraged through rescheduling job shifts. The use of disposable electrodes and dedicated EEG devices for COVID-19-positive patients are recommended. CONCLUSIONS: During the different phases of COVID-19 pandemic, the EEG should be reserved for patients really benefiting from its execution in terms of diagnosis, treatment, prognosis, and avoidance of emergency room access.
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Betacoronavirus , Infecções por Coronavirus/fisiopatologia , Eletroencefalografia/normas , Epilepsia/fisiopatologia , Pneumonia Viral/fisiopatologia , Guias de Prática Clínica como Assunto/normas , Sociedades Médicas/normas , Comitês Consultivos/normas , COVID-19 , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Surtos de Doenças/prevenção & controle , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Humanos , Itália/epidemiologia , Pessoal de Laboratório Médico/normas , Neurofisiologia/métodos , Neurofisiologia/normas , Pandemias , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , SARS-CoV-2RESUMO
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.
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Epilepsia , Estimulação do Nervo Vago , Antidepressivos , Epilepsia/terapia , Humanos , Qualidade de Vida , Resultado do TratamentoRESUMO
OBJECTIVE: The objective of this study was to assess the stigma related to epilepsy from the perspective of people with epilepsy (PWE) and from the Italian community (Rome and central Italy); moreover, the impact of the perceived stigma on the mood and quality of life of patients was also evaluated. MATERIALS AND METHODS: We consecutively enrolled 100 PWE and 202 nonepileptic subjects (NES). Both PWE and NES completed an Italian version of the Stigma Scale of Epilepsy (SSE), a 24-items questionnaire that has been demonstrated to allow the quantification of the stigma perception by patients and people from the community. Moreover, the PWE fulfilled a 3-item Jacoby's Stigma Scale, the Quality of Life in Epilepsy-31 (QOLIE-31 [Q3])), and Beck Depression Inventory II (BDI-II) questionnaires for the evaluation of the quality of life and depressive symptoms. The results of the SSE were correlated with clinical and demographic details of PWE and NES, as well as the Q31 and BDI-II scores in PWE. RESULTS: The SSE scores were significantly higher in NES with respect to PWE (respectively 47.1 vs 39.5, pâ¯<â¯.001). Forty-two percent of PWE reported feeling stigmatized, with 5% reporting feeling highly stigmatized. In PWE, the perceived stigma was not correlated with seizure frequency but was significantly associated with worse quality of life, more severe depressive symptoms, and higher number of AEDs. The multiple regression analysis showed that the quality-of-life overall score and Q31 subscale exploring "social function" are the most significant predictors of stigma. CONCLUSIONS: By using an Italian translation of the SSE questionnaire, even if we cannot consider our sample representative of the whole Italian community our study evidenced higher rates of stigma related to epilepsy in NES than in PWE. The PWE still experience feelings of stigmatization strongly correlated with higher depressive symptoms and worse quality of life that has proven to be the most significant predictor of stigma. Finally, seizure frequency does not affect the perceived stigma, which is instead significantly influenced by antiepileptic therapy.
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Epilepsia/epidemiologia , Epilepsia/psicologia , Vida Independente/psicologia , Qualidade de Vida/psicologia , Estigma Social , Inquéritos e Questionários , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Depressão/epidemiologia , Depressão/psicologia , Epilepsia/tratamento farmacológico , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Convulsões/tratamento farmacológico , Convulsões/epidemiologia , Convulsões/psicologia , Ajustamento Social , Estereotipagem , Adulto JovemRESUMO
OBJECTIVE: Transient epileptic amnesia (TEA) is an underestimated condition in emergency clinical setting, where most of transient amnesic episodes tend to be classified as transient global amnesia (TGA). We designed this study to evaluate the actual frequency of TEA in a real-life scenario and to highlight the features that can help clinicians distinguishing it from TGA. METHODS: We retrospectively collected clinical data of 83 patients who accessed our emergency ward for an abrupt onset of amnesic disorder, initially interpreted as TGA. All patients underwent neurological evaluation, magnetic resonance imaging (MRI) scan, and standard 21-channel scalp electroencephalography (EEG) recording (standard EEG [st-EEG]). Moreover, patients with borderline epileptiform abnormalities on st-EEG or with normal st-EEG but high clinical suspicion for TEA underwent a 16-channel 24-hour ambulatory EEG (24-h EEG). Clinical features, neurophysiological, and neuroimaging data were analyzed and compared in the two groups (TEA and TGA). RESULTS: Diagnosis of TEA, according to Zeman's criteria, was made in 15 patients (18%). From a clinical point of view recurrence (pâ¯<â¯.001) and atypical symptoms such as confusion or language disorder (TGA plus manifestations), appear to be key elements in order to discriminate between TEA and TGA (80% of patients with TEA vs 7.8% of patients with TGA; pâ¯<â¯.001). In our sample, duration of the episodes did not significantly differ between TGA and TEA, even though it is usually described as shorter for TEA. This result could be related with a prolonged postictal state in these patients. The analysis of st-EEG results evidenced low sensitivity for interictal epileptiform abnormalities (IEAs) detection (52.3%), with not conclusive data in distinguishing TEA from TGA. On the contrary, 24-h EEG showed IEAs in all patients with epilepsy, mostly during sleep, suggesting an essential diagnostic role of long-lasting EEG recording for TEA. Finally, structural abnormalities were more frequent in patients with TEA (26.6%). In the group with TGA, the only imaging alteration found was diffusion weighted imaging (DWI) hippocampal hyperintensity. CONCLUSION: Our findings show that in a real-life clinical scenario, TEA is frequent but often overlooked. However, simple clinical data and widely available neurophysiological examinations can truly help to effectively distinguish TEA from TGA.
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Amnésia Anterógrada/diagnóstico , Amnésia Global Transitória/diagnóstico , Epilepsia/diagnóstico , Adulto , Idoso , Amnésia Anterógrada/epidemiologia , Amnésia Global Transitória/epidemiologia , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia/epidemiologia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neuroimagem , Estudos RetrospectivosRESUMO
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3. The most common mutation is an expansion of unstable dodecamer repetition (CCCCGCCCCGCG), whereas other types of mutations are rare. Among these, heterozygous compound mutations are described to induce a more severe phenotype than that of homozygous dodecameric repetition. We report two siblings affected by heterozygous compound mutations carrying a novel mutation of the deletion of three nucleotides in exon 2 of the gene in position 132-134 of the coding sequence (c.132-134del) in the allele not including the dodecamer repetition. This mutation results in the loss of two amino acid residues and insertion of an asparagine in position 44 (p.Lys44_Ser45delinsAsn). Our patients presented a very different clinical picture. The male patient had a severe myoclonus, drug-resistant epilepsy and psychiatric comorbidity, while his affected sister had only very rare seizures and sporadic myoclonic jerks at awakening. The revision of literature about heterozygous compound EPM1 patients confirms this gender phenotypic expressivity, with female patients carrying less severe symptoms than male patients. These data lead to the hypothesis of complex gender-specific factors interacting with CSTB expressivity in EPM1 patients.
Assuntos
Cistatina B/genética , Deleção de Sequência/genética , Síndrome de Unverricht-Lundborg/genética , Cromossomos Humanos Par 21/genética , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , IrmãosRESUMO
Given the importance of neuronal plasticity in recovery from a stroke and the huge variability of recovery abilities in patients, we investigated neuronal activity in the acute phase to enhance information about the prognosis of recovery in the stabilized phase. We investigated the microstates in 47 patients who suffered a first-ever mono-lesional ischemic stroke in the middle cerebral artery territory and in 20 healthy control volunteers. Electroencephalographic (EEG) activity at rest with eyes closed was acquired between 2 and 10 days (T0) after ischemic attack. Objective criteria allowed for the selection of an optimal number of microstates. Clinical condition was quantified by the National Institute of Health Stroke Scale (NIHSS) both in acute (T0) and stabilized (T1, 5.4 ± 1.7 months) phases and Effective Recovery (ER) was calculated as (NIHSS(T1)-NIHSS(T0))/NIHSS(T0). The microstates A, B, C and D emerged as the most stable. In patients with a left lesion inducing a language impairment, microstate C topography differed from controls. Microstate D topography was different in patients with a right lesion inducing neglect symptoms. In patients, the C vs D microstate duration differed after both a left and a right lesion with respect to controls (C lower than D in left and D lower than C in right lesion). A preserved microstate B in acute phase correlated with a better effective recovery. A regression model indicated that the microstate B duration explained the 11% of ER variance. This first ever study of EEG microstates in acute stroke opens an interesting path to identify neuronal impairments with prognostic relevance, to develop enriched compensatory treatments to drive a better individual recovery.