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1.
Epilepsy Behav ; 152: 109607, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38277852

RESUMO

AIM: The current study aims to investigate the effect of Executive Functions (EFs) on Health Related Quality of Life (HRQoL) in a cohort of children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and to identify possible factors that impact HRQoL specifically related to epilepsy-related variables and EFs skills. MATERIAL AND METHOD: The Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL) and The Behavior Rating Inventory of Executive Function (BRIEF-2 and BRIEF-P) were completed by the parents of 129 patients with SeLECTS. Demographic variables and epilepsy-related variables were collected. RESULTS: Our sample performed in the average range across all the subscales and summary scores of the PedsQL and performed in the normal range of the BRIEF questionnaire. We observed that a lower functioning in EFs was associated with lower overall HRQoL scores. We explored the relationship between epilepsy characteristics and scores on the PedsQL. We found that the use of antiseizure medications (ASMs), longer duration of the treatment, and a higher seizure frequency were associated with a lower HRQoL. Moreover, we observed that executive dysfunction was a significant predictor of reduced HRQoL. CONCLUSION: Our results suggest the importance of the identification of patients with SeLECTS with a high level of risk for a poor HRQoL. We may now add executive dysfunction to the list of known risk factors for poor HRQoL in children with SeLECTS, along with such factors as seizure frequency, recent seizures, use of ASMs and longer duration of therapy. The early identification of children with SeLECTS at risk of a poor HRQoL could allow the activation of adequate interventions.


Assuntos
Disfunção Cognitiva , Epilepsia , Criança , Humanos , Função Executiva/fisiologia , Qualidade de Vida , Epilepsia/tratamento farmacológico , Convulsões , Inquéritos e Questionários
2.
Int J Mol Sci ; 25(17)2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39273354

RESUMO

Pain is an unpleasant sensory and emotional experience. Adequate pain control is often challenging, particularly in patients with chronic pain. Despite advances in pain management, drug addiction, overtreatment, or substance use disorders are not rare. Hence the need for further studies in the field. The substantial progress made over the last decade has revealed genes, signalling pathways, molecules, and neuronal networks in pain control thus opening new clinical perspectives in pain management. In this respect, data on the epigenetic modulation of opioid and cannabinoid receptors, key actors in the modulation of pain, offered new perspectives to preserve the activity of opioid and endocannabinoid systems to increase the analgesic efficacy of opioid- and cannabinoid-based drugs. Similarly, upcoming data on cannabidiol (CBD), a non-psychoactive cannabinoid in the marijuana plant Cannabis sativa, suggests analgesic, anti-inflammatory, antioxidant, anticonvulsivant and ansiolitic effects and supports its potential application in clinical contexts such as cancer, neurodegeneration, and autoimmune diseases but also in health and fitness with potential use in athletes. Hence, in this review article, we summarize the emerging epigenetic modifications of opioid and cannabinoid receptors and focus on CBD as an emerging non-psychoactive cannabinoid in pain management in clinical practice, health, and fitness.


Assuntos
Analgésicos Opioides , Canabinoides , Receptores de Canabinoides , Humanos , Analgésicos Opioides/uso terapêutico , Analgésicos Opioides/farmacologia , Canabinoides/uso terapêutico , Canabinoides/farmacologia , Receptores de Canabinoides/metabolismo , Animais , Dor/tratamento farmacológico , Dor/metabolismo , Canabidiol/uso terapêutico , Canabidiol/farmacologia , Receptores Opioides/metabolismo , Epigênese Genética/efeitos dos fármacos , Manejo da Dor/métodos , Dor Crônica/tratamento farmacológico , Dor Crônica/metabolismo , Endocanabinoides/metabolismo
3.
Epilepsy Behav ; 121(Pt A): 108069, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34077902

RESUMO

INTRODUCTION: The main of the present study was to assess the effectiveness and tolerability of perampanel (PER) in association with 1 or 2 concomitant antiseizure medications (ASMs) in patients with epilepsy throughout a follow-up period of 24 months or longer in a real-world setting. METHODS: This retrospective, observational, multi-center study collected data from both underage (<18 years old) and adult patients who had started PER in association with 1 or 2 ASMs. Only patients who had started PER and were followed up for at least 24 months were included. Response to treatment was analyzed at the 24-, 36-, and 48-month visits by considering the last visit undergone by patients. Subgroup analyses were performed according to age, gender, and epilepsy type and patients were categorized following PER treatment in concomitance with 1 or 2 ASMs to evaluate the factors affecting the achievement of seizure freedom (SF) at the 24-month FU. RESULTS: Ninety-four patients were included (mean age 36.89 years; 51.1% female). At the 24-month follow-up visit, 90 (95.74%) patients were still receiving PER concomitantly with 1 or 2 ASMs. The mean PER dose was 6.02 mg/day and SF was achieved by 33 (35.1%) patients. A significantly higher SF rate was found in patients who had started PER with only 1 ASM when compared to those who had started PER with 2 concomitant ASMs. Effectiveness was maintained also in the subgroups of patients with a 36- or 48-month follow-up visit. Adult patients had a higher final daily dosage of PER than underage patients. Logistic regression found that the lowest number of previously failed ASMs was associated with a higher SF rate (p = 0.036). CONCLUSION: Perampanel demonstrated a good effectiveness in association with 1 or 2 ASMs in both pediatric and adult patients, without having to use a high dose of the drug. The possibility to present SF was higher when PER was added early. Finally, the maintenance of effectiveness was observed also in the subgroups of patients with a follow-up of 36 and 48 months.


Assuntos
Anticonvulsivantes , Epilepsia , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Feminino , Seguimentos , Humanos , Masculino , Nitrilas , Piridonas/uso terapêutico , Estudos Retrospectivos , Resultado do Tratamento
4.
Epilepsy Behav ; 102: 106648, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31715510

RESUMO

OBJECTIVES: Cognitive abilities and executive functions in children and adolescents are important indicators of quality of life as well as academic and social achievements. Cognitive and executive functioning are often impaired in patients with epilepsy and can be exacerbated by seizures and antiseizure drugs. The aim of our observational retrospective study was to assess executive functioning in patients with pediatric epilepsy, currently taking a single antiseizure medication. MATERIALS AND METHODS: Records of 172 children and adolescents aged between 6 and 18 years (mean age = 12 ±â€¯3.4 years) with newly diagnosed epilepsy who had not yet commenced an antiepileptic treatment were included in the study. Longitudinal changes in executive functioning were assessed using the EpiTrack Junior test at baseline, before the introduction of antiepileptic monotherapy, and at 3-month, 6-month, and 9-month follow-up visits. All patients commenced a single antiepileptic treatment (levetiracetam n = 54; valproic acid n = 52; ethosuximide n = 20; oxcarbazepine n = 22; carbamazepine n = 24). Age, sex, seizure types, and seizure baseline frequency were also recorded. RESULTS: Relative to baseline, Epitrack Junior mean scores deteriorated at the 9-month follow-up visit for patients taking valproic acid, ethosuximide, and carbamazepine, but this was only statistically significant for patients taking carbamazepine. In contrast, mean scores improved for subjects taking levetiracetam and oxcarbazepine at the 9-month follow-up visit relative to baseline, but this was only statistically significant for patients taking levetiracetam. CONCLUSIONS: Levetiracetam was the only antiseizure medication that led to slight improvements in executive functioning; whereas carbamazepine led to deteriorations in cognitive functioning. Further research using double-blinded, placebo-controlled trials are needed to confirm these results.


Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/psicologia , Função Executiva/efeitos dos fármacos , Levetiracetam/uso terapêutico , Adolescente , Fatores Etários , Anticonvulsivantes/efeitos adversos , Carbamazepina/efeitos adversos , Criança , Função Executiva/fisiologia , Feminino , Humanos , Levetiracetam/efeitos adversos , Masculino , Oxcarbazepina/efeitos adversos , Oxcarbazepina/uso terapêutico , Qualidade de Vida/psicologia , Estudos Retrospectivos
5.
Epilepsy Behav ; 111: 107118, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32563891

RESUMO

Several studies have documented learning disabilities (LDs) in subjects with epilepsy, who have been shown to be at greater risk of mild neuropsychological damage, with the consequent risk of academic failure. This retrospective study aimed to investigate the peculiarities of reading and writing disorders in subjects with idiopathic epilepsy. The reading and writing performance of 35 children affected by reading and writing disorders and idiopathic epilepsy (R/WD + E group) has been compared with the performance of 37 children with only reading and writing disorders (R/WD group). A comparison group of 22 typical developing healthy children (TDC group) was also included in the study. As expected, the TDC group reached better performances in the reading and writing tests administered. Between R/WD + E and R/WD groups, there was a substantial analogy in reading and writing disabilities. The differences between the two clinical groups concern writing ability in sentences dictation and verbal and visuospatial short-term memory in digit span and memory-for-location (MFL) tests.


Assuntos
Dislexia/psicologia , Epilepsia/psicologia , Testes Neuropsicológicos , Redação , Criança , Dislexia/diagnóstico , Dislexia/epidemiologia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Deficiências da Aprendizagem/diagnóstico , Deficiências da Aprendizagem/epidemiologia , Deficiências da Aprendizagem/psicologia , Masculino , Memória de Curto Prazo/fisiologia , Estudos Retrospectivos
6.
Epilepsy Behav ; 103(Pt A): 106879, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31937512

RESUMO

OBJECTIVES: Perampanel (PER) is a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) glutamate receptor antagonist recently approved for focal and generalized epilepsies as an add-on therapy. It is well tolerated and effective as treatment of various pediatric epilepsy syndromes; PER does not seem to negatively affect the cognitive profile of children and adolescents, but its influence on executive functions is still to be assessed. METHODS: Our sample included 37 children aged 12-18 years, with focal pharmacoresistant epilepsy already in therapy with 2 or 3 antiepileptic drug (AED); PER was added with 1 mg/week increments up to a dose of 2-4 mg/day. Changes in executive functions were assessed by the EpiTrack Junior test. Emotional and behavioral aspects were evaluated through the interview for parents Child Behavior Checklist (CBCL). Both tests were performed before taking PER and after 6 and 12 months of treatment. RESULTS: After 12 months of PER in 22/30 patients, global score of the EpiTrack Junior test remained almost unchanged; in 7/30 patients, this score improved. The CBCL did not show significant changes in emotional or behavioral problems. CONCLUSIONS: Adjunctive treatment with PER did not negatively affect executive functions that could also be improved. No emotional/behavioral negative effects have been reported, and this suggests a good tolerability in the middle/long term.


Assuntos
Comportamento do Adolescente/efeitos dos fármacos , Anticonvulsivantes/administração & dosagem , Comportamento Infantil/efeitos dos fármacos , Epilepsias Parciais/tratamento farmacológico , Função Executiva/efeitos dos fármacos , Piridonas/administração & dosagem , Adolescente , Comportamento do Adolescente/fisiologia , Comportamento do Adolescente/psicologia , Criança , Comportamento Infantil/fisiologia , Comportamento Infantil/psicologia , Quimioterapia Combinada , Epilepsias Parciais/psicologia , Antagonistas de Aminoácidos Excitatórios/uso terapêutico , Função Executiva/fisiologia , Feminino , Humanos , Masculino , Nitrilas , Resultado do Tratamento
7.
Epilepsy Behav ; 112: 107445, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32920379

RESUMO

INTRODUCTION: Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by multiple drug-resistant seizure types. Children with LGS usually experience cognitive regression, and LGS is almost always associated with moderate to severe cognitive impairment. Rufinamide (RFM) was approved by the European Medicines Agency in 2007 for the adjunctive treatment of seizures associated with LGS in patients ≥4 years of age. The primary objective of our study was to assess cognitive, adaptive, and behavior functioning of patients with LGS after 12 months of RFM therapy. METHODS: This was an observational, multicenter, prospective study involving 16 patients diagnosed with LGS aged between 7 and 58 years (mean = 22 ±â€¯16.3). Fourteen of 16 patients were already on therapy with 3 antiseizure drugs and 2/16 with 4 antiseizure drugs; RFM has been added with 100 mg/week increments up to a dose of 300-2400 mg/day. The participants and their parents underwent a neuropsychological evaluation for the assessment of intellectual, adaptive, and emotional/behavioral functioning (Leiter International Performance Scale-Revised (LEITER-R), Vineland, and Child Behavior CheckList (CBCL), respectively) before the RFM introduction (baseline) and 12 months after the RFM therapy (T2). Physical and neurological examination, electroencephalography (EEG) recording, seizure type and frequency, and adverse reactions were also considered. RESULTS: After 12 months, the total intelligence quotient (IQ) assessed by LEITER-R did not show statistical significant changes, such as there were no statistically significant changes in adaptive functions, assessed by Vineland. Furthermore, there were no statistically significant changes in internalizing and externalizing problems assessed by CBCL. CONCLUSION: Adjunctive treatment with RFM did not negatively affect cognitive, adaptive function, and emotional profile in patients with LGS after 1 year of follow-up.


Assuntos
Síndrome de Lennox-Gastaut , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Criança , Cognição , Humanos , Síndrome de Lennox-Gastaut/tratamento farmacológico , Pessoa de Meia-Idade , Estudos Prospectivos , Triazóis , Adulto Jovem
8.
Medicina (Kaunas) ; 56(10)2020 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-32998279

RESUMO

Psychogenic non-epileptic seizures (PNES) or dissociative seizures are found under the umbrella headings of functional/dissociative neurological disorders (FND) in psychiatric classifications (DSM-5; ICD-11). PNES are not characterized by any specific ictal or postictal EEG abnormalities. Patients with PNES can present with motor or non-motor symptoms, frequently associated with a change in the level of consciousness. PNES duration is variable, often longer than that of epileptic seizures. Prolonged PNES, sometimes termed PNES status, involve continuous or repetitive events that exceed 30 min. Prolonged PNES are often misdiagnosed as an epileptic event and are often inappropriately treated with high doses of antiseizure drugs. In this report, we describe two adolescent patients who presented with prolonged PNES characterized by generalized hypertonic posturing and low levels of consciousness. Despite multiple presentation to the Emergency department, and multiple normal video-EEG, the patients were misdiagnosed with epilepsy and were inappropriately treated with antiseizure medications. Both patients presented psychiatric comorbidity, consisting of a major depressive disorder, obsessive-compulsive symptoms, social withdrawal, difficulty of social interaction, and anxious-perfectionist personality traits. The episodes of prolonged PNES gradually declined within 18 months in both patients.


Assuntos
Transtorno Depressivo Maior , Epilepsia , Adolescente , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Humanos , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Gravação em Vídeo
9.
Medicina (Kaunas) ; 56(9)2020 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-32825169

RESUMO

A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD.


Assuntos
Transtorno do Espectro Autista/tratamento farmacológico , Transtorno do Espectro Autista/fisiopatologia , Eletroencefalografia , Anticonvulsivantes/uso terapêutico , Transtorno do Espectro Autista/complicações , Criança , Transtornos do Comportamento Infantil/etiologia , Transtornos do Comportamento Infantil/fisiopatologia , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/fisiopatologia , Epilepsia/etiologia , Epilepsia/fisiopatologia , Medicina Baseada em Evidências , Feminino , Humanos , Masculino
10.
Acta Neurol Scand ; 140(2): 87-92, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31002402

RESUMO

OBJECTIVE: To assess maternal and paternal stress in two groups of children with different types of epilepsy, at the time of diagnosis and after one year of follow-up. METHODS: We investigated parental stress in a sample of 85 children aged between 2 and 14 years, divided into two groups based on the diagnosis: Group 1 (50 patients) with childhood absence epilepsy or idiopathic focal epilepsy with rolandic discharges and Group 2 (35 patients) with different forms of drug-resistant epilepsy. Parents independently completed the Parental Stress Index-Short Form at Time 0, when they received the diagnosis and patients started therapy, and at Time 1, after 1 year of follow-up. RESULTS: We found high levels of stress in both mothers and fathers at Time 0, without statistically significant differences between the two groups. At Time 1, stress values were unchanged in Group 1 mothers; conversely, the levels of stress in Group 1 fathers reduced, with average values that all fell within the "normal range." In Group 2, stress levels were reduced both in mothers and in fathers at Time 1, compared to Time 0, but equally fell into the "pathological range," for both parents. CONCLUSION: In our study, the diagnosis of the epilepsy itself tended to increase parental stress, apparently regardless of the severity of the epilepsy; even after a period of follow-up, when the epilepsy was better controlled, overall parental stress remained high. It might have been related to feelings of parental inadequacy or concerns about issues such as safety or the outcome for the child.


Assuntos
Epilepsia/psicologia , Pais/psicologia , Estresse Psicológico/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Emoções , Feminino , Humanos , Masculino , Estresse Psicológico/epidemiologia , Inquéritos e Questionários
11.
Epilepsy Behav ; 94: 239-242, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30978636

RESUMO

OBJECTIVE: The objective of the study was to explore stress levels in the parents of children with idiopathic epilepsy at different time points of the disease, specifically, at the time of diagnosis, during follow-up, and 1 and 2 years after discontinuation of antiepileptic drugs. METHODS: Our study included 50 patients between 5 and 14 years of age, who were diagnosed with childhood absence epilepsy or idiopathic focal epilepsy with Rolandic paroxysms. Parents of the participants independently completed the Parenting Stress Index-Short Form at the time of initial diagnosis, and when the children started antiepileptic drugs (Time 0), and at 1 year (Time 1) and 2 years (Time 2) after discontinuation of therapy. RESULTS: At Time 0, parental stress levels were increased, both in mothers and fathers, with average scores in the "clinical range" of the parental distress (PD), dysfunctional parent-child interaction (P-CDI), and total stress (TS) scales. At Time 1, the scores on these scales remained high. At Time 2, a mild reduction in the stress scores was observed in both parents, despite values remaining in the "clinical range" for all the scales. CONCLUSIONS: Results suggested that parents of children with epilepsy were not reassured about the child's condition, even after clinical improvement. Parental stress levels remained higher than expected, even 2 years after the discontinuation of therapy and freedom from seizures. This was probably due to concerns with the reappearance of new seizures or a more severe type of epilepsy with the discontinuation of drug(s), and feelings of inadequacy with their parental role(s).


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/terapia , Pais/psicologia , Estresse Psicológico/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Epilepsia/enfermagem , Feminino , Humanos , Masculino
12.
Epilepsy Behav ; 97: 187-191, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31252277

RESUMO

INTRODUCTION: Benign epilepsy with centrotemporal spikes (BECTS) is a common epileptic syndrome in childhood, characterized by brief and infrequent partial motor seizures, with or without generalization and mostly recurring during sleep. Because of its favorable efficacy, tolerability, and safety profile, levetiracetam (LEV) monotherapy is often administered in these patients. Long-term effects of LEV therapy and its influence on cognitive functions remain controversial. PURPOSE: This evaluated the changes in the cognitive profile of children with BECTS treated with LEV monotherapy for 2 years, compared with a control group of children with specific learning disabilities. METHOD: Our patient cohort included 20 children aged 8-14 years diagnosed as having BECTS and administered LEV monotherapy and 10 age/sex-matched controls with specific learning disabilities. All participants underwent a standardized test for assessing cognitive profile (Wechsler Intelligence Scale for Children - Fourth Edition [WISC-IV]) before drug therapy and after 2 years of treatment. Average LEV blood level and electroencephalographic (EEG) recordings were periodically monitored. Several factors such as age, sex, response to therapy, and EEG pattern changes were considered. Statistical analysis was performed using Student's t-test for paired and independent samples. p < 0.05 was considered statistically significant. RESULTS: Children administered LEV for 24 months showed a mild but statistically significant improvement in overall cognitive abilities. Verbal skills, visual-perceptual reasoning, working memory, and processing speed showed slight but significant improvement. In the control group, cognitive profile remained substantially unchanged at 2-year follow-up. CONCLUSIONS: Not only do our data suggest a nonworsening of the cognitive profile in BECTS with LEV but, on the contrary, cognitive scores also improved over time, unlike the control group.


Assuntos
Anticonvulsivantes/uso terapêutico , Cognição/efeitos dos fármacos , Epilepsia Rolândica/tratamento farmacológico , Levetiracetam/uso terapêutico , Adolescente , Anticonvulsivantes/farmacologia , Estudos de Casos e Controles , Criança , Eletroencefalografia , Epilepsia Rolândica/psicologia , Feminino , Seguimentos , Humanos , Levetiracetam/farmacologia , Masculino , Estudos Retrospectivos , Escalas de Wechsler
13.
Cogn Behav Neurol ; 32(2): 87-94, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31205122

RESUMO

OBJECTIVE: To describe (a) the observed cognitive, emotional, and behavioral phenotype in a cohort of male children with 47,XYY syndrome and (b) stress levels in their parents. METHODS: We conducted a cross-sectional observational study of 11 boys diagnosed with 47,XYY syndrome and compared them with 11 age-matched boys with normal karyotype (46,XY). The participants performed standardized assessments of cognitive function, emotional state, and behavioral features; the parents completed a questionnaire evaluating parental stress. All data were analyzed using parametric and nonparametric statistical methods. RESULTS: All of the boys exhibited a normal cognitive profile. However, emotional-behavioral profiling revealed that internalizing and externalizing problems were more prevalent in the 47,XYY group. In addition, the stress levels of the parents of the 47,XYY group were reportedly higher than those of the parents of the 46,XY group. We also found that the time of the diagnosis had an effect on the mothers' stress levels; that is, postnatal fetal 47,XYY diagnosis was associated with higher maternal stress, whereas prenatal fetal 47,XYY diagnosis was not. CONCLUSIONS: Generally, 47,XYY syndrome is associated with certain cognitive, emotional, and behavioral features. High stress levels have been reported by the mothers of 47,XYY boys who had been diagnosed postnatally because of unexpected developmental delay and/or learning difficulties. The present study highlights the need to better define the neuropsychiatric phenotype of 47,XYY children; namely, the effect of the chromosomal abnormality on their cognitive function and emotional-behavioral (internalizing and externalizing) features. This study could improve prenatal counseling and pediatric surveillance.


Assuntos
Cognição/fisiologia , Emoções/fisiologia , Pais/psicologia , Transtornos dos Cromossomos Sexuais/psicologia , Estresse Psicológico/psicologia , Cariótipo XYY/psicologia , Adolescente , Criança , Comportamento Infantil , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Fenótipo , Gravidez , Transtornos dos Cromossomos Sexuais/diagnóstico , Estresse Psicológico/diagnóstico , Inquéritos e Questionários , Cariótipo XYY/diagnóstico
15.
Front Neurol ; 15: 1395003, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38984036

RESUMO

Background: The primary aims of our cross-sectional observational study were: (i) to determine the prevalence of depressive symptoms in children and adolescents with epilepsy compared to controls and (ii) to explore the difference in depressive symptoms in patients with epilepsy only and those with epilepsy and primary headache as a comorbidity. The secondary objective was to explore parental stress levels. Methods: 68 pediatric patients aged 6-18 years (44 with epilepsy only and 24 with epilepsy and headache) and 50 controls were recruited. Depressive profile and parental stress were assessed using Children's Depression Inventory, Second Edition (CDI-2) and Parenting Stress Index-Short Form (PSI-SF). Results: The group with epilepsy showed significantly high depressive symptoms and parental stress compared to controls. The patients with headache in comorbidity experienced more depressive symptoms than those with epilepsy only. Conclusion: Depressive symptoms are more prevalent in patients who have comorbid epilepsy and primary headache; therefore, the neurological/psychological mechanisms underlying this condition should be further investigated. The simultaneous presence of epilepsy, headache and depressive symptoms impacts the quality of life of patients and their parents, increasing parental stress and family management.

16.
Curr Neuropharmacol ; 22(11): 1870-1898, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38549522

RESUMO

BACKGROUND: Environmental exposures to non-biodegradable and biodegradable plastics are unavoidable. Microplastics (MPs) and nanoplastics (NPs) from the manufacturing of plastics (primary sources) and the degradation of plastic waste (secondary sources) can enter the food chain directly or indirectly and, passing biological barriers, could target both the brain and the gonads. Hence, the worldwide diffusion of environmental plastic contamination (PLASTAMINATION) in daily life may represent a possible and potentially serious risk to human health. OBJECTIVE: This review provides an overview of the effects of non-biodegradable and the more recently introduced biodegradable MPs and NPs on the brain and brain-dependent reproductive functions, summarizing the molecular mechanisms and outcomes on nervous and reproductive organs. Data from in vitro, ex vivo, non-mammalian and mammalian animal models and epidemiological studies have been reviewed and discussed. RESULTS: MPs and NPs from non-biodegradable plastics affect organs, tissues and cells from sensitive systems such as the brain and reproductive organs. Both MPs and NPs induce oxidative stress, chronic inflammation, energy metabolism disorders, mitochondrial dysfunction and cytotoxicity, which in turn are responsible for neuroinflammation, dysregulation of synaptic functions, metabolic dysbiosis, poor gamete quality, and neuronal and reproductive toxicity. In spite of this mechanistic knowledge gained from studies of non-biodegradable plastics, relatively little is known about the adverse effects or molecular mechanisms of MPs and NPs from biodegradable plastics. CONCLUSION: The neurological and reproductive health risks of MPs/NPs exposure warrant serious consideration, and further studies on biodegradable plastics are recommended.


Assuntos
Reprodução , Humanos , Animais , Reprodução/efeitos dos fármacos , Reprodução/fisiologia , Sistema Nervoso Central/efeitos dos fármacos , Microplásticos/toxicidade , Plásticos/toxicidade , Poluentes Ambientais/toxicidade , Exposição Ambiental/efeitos adversos
17.
Epilepsia Open ; 9(5): 1881-1890, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39110111

RESUMO

OBJECTIVE: Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy characterized by difficult-to-control seizures and cognitive dysfunction. Previous studies mainly focused on pediatric populations, and little is known about the long-term cognitive outcome in adult patients with LGS. The objective of this study was to investigate the long-term functional and adaptive behavior in adult patients with LGS. METHODS: This cross-sectional study enrolled adult patients diagnosed with LGS according to the recently published International League Against Epilepsy (ILAE) diagnostic criteria. The adaptive behavior of participants was assessed using the Vineland Adaptive Behavior Scales, Survey Interview, Second Edition (VABS-II). Demographic, clinical, electroencephalography (EEG), and antiseizure medication (ASM) data were also collected at different timepoints, to investigate their association with VABS-II scores. RESULTS: The study included 38 adult patients with LGS. A low score on the Adaptive Behavior Composite Scale was found in all patients. When considering single VABS-II domains, particularly low scores were found in daily living skills and socialization, whereas slightly higher performances were observed in communication. An earlier age at LGS diagnosis was identified as the most significant predictor of worse adaptive outcomes in adult life. At the time of study evaluation, high seizure frequency, higher EEG background slowing, and multifocal EEG epileptiform abnormalities were significantly associated with lower VABS-II raw scores. Furthermore, in an exploratory correlation analysis with ASM regimen at the study visit, treatment with cannabidiol was associated with higher adaptive behavior scores, whereas benzodiazepine intake correlated with lower scores. SIGNIFICANCE: This study provides relevant insights into the long-term challenges faced by adults with Lennox-Gastaut syndrome (LGS), highlighting significant impairments in adaptive behavior as well as the associated clinical and electroencephalography features. Additionally, this study provides a more specific neuropsychological profile in adults with LGS and underscores the importance of comprehensive care approaches that go beyond seizure control in this population. PLAIN LANGUAGE SUMMARY: This study examined adults with Lennox-Gastaut syndrome (LGS), a severe type of epilepsy, to understand their long-term abilities to perform daily tasks and adapt socially. We found that these adults have significant difficulties with daily living and social skills, although not all areas were equally affected. They performed somewhat better in communication, particularly in understanding others (receptive communication). Importantly, the younger the age at which LGS was diagnosed, the worse their outcomes were as adults. This study highlights the need for research and treatment approaches that focus not only on controlling seizures but also on improving daily life skills.


Assuntos
Adaptação Psicológica , Síndrome de Lennox-Gastaut , Humanos , Síndrome de Lennox-Gastaut/tratamento farmacológico , Masculino , Adulto , Feminino , Estudos Transversais , Adulto Jovem , Anticonvulsivantes/uso terapêutico , Eletroencefalografia , Pessoa de Meia-Idade , Adolescente , Atividades Cotidianas
18.
Nutrients ; 15(4)2023 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-36839414

RESUMO

(1) Background: The aim of our study was to evaluate parental stress after 6 and 12 months of a ketogenic diet, considering demographic and clinical variables (epilepsy type, epilepsy duration, seizure number, antiseizure medications, comorbidities, efficacy, and adverse events). (2) Methods: We consecutively enrolled 36 children aged between 3 and 10 years who had been diagnosed with various types of drug-resistant epilepsy and who were in therapy with a ketogenic diet for better seizure control. A standardized neuropsychological questionnaire (Parenting Stress Index-PSI) was administered to the parents evaluating parental stress at baseline (T0), after 6 (T1) months, and after 12 months (T2). (3) Results: After 6 and 12 months of dietary treatment, Parental Distress and Total Stress mean scores were statistically significantly increased. Post hoc analysis showed no significant changes in the scores between T0 and T1, although there was a significant increase between T1 and T2. We did not find statistically significant relationships between parental stress and the other variables considered. (4) Conclusions: The ketogenic diet can be challenging for parents and can affect the perception of parental stress, especially in the long term. Parents may feel inadequate in their role; therefore, they should be helped and encouraged through additional supports in order to maximize the adherence to diet therapy.


Assuntos
Dieta Cetogênica , Epilepsia , Humanos , Criança , Pré-Escolar , Dieta Cetogênica/efeitos adversos , Resultado do Tratamento , Convulsões , Pais
19.
Artigo em Inglês | MEDLINE | ID: mdl-36900934

RESUMO

INTRODUCTION: Few studies have focused on the long-term effects of the COVID-19 pandemic on mental health. The objective of our work was to evaluate the changes in emotional and behavioral symptoms in patients with neuropsychiatric disorders and the impact on parenting stress 1 year after the first national lockdown. METHODS: We enrolled 369 patients aged 1.5-18 years of age referred to the Child and Adolescent Neuropsychiatry Unit of the University Hospital of Salerno (Italy) by their parents. We asked their parents to complete two standardized questionnaires for the assessment of emotional/behavioral symptoms (Child Behavior CheckList, CBCL) and parental stress (Parenting Stress Index, PSI) prior to the pandemic (Time 0), during the first national lockdown (Time 1) and after 1 year (Time 2), and we monitored the changes in symptoms over time. RESULTS: After 1 year from the start of the first national lockdown, we found a significant increase of internalizing problems, anxiety, depression, somatization, and social and oppositional-defiant problems in older children (6-18 years), and a significant increase of somatization, anxiety problems, and sleep problems in younger children (1.5-5 years). We also observed a significant relationship between emotional/behavioral symptoms and parental stress. CONCLUSION: Our study showed that parental stress levels increased compared to the pre-pandemic months and continues to persist over time, while internalizing symptoms of children and adolescents showed a significant worsening during 1 year follow-up from the first COVID-19 lockdown.


Assuntos
COVID-19 , Humanos , Criança , Adolescente , Lactente , Pré-Escolar , Pandemias , Seguimentos , Controle de Doenças Transmissíveis , Poder Familiar/psicologia
20.
Curr Neuropharmacol ; 21(8): 1646-1665, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35794776

RESUMO

Managing epilepsy in people with an intellectual disability remains a therapeutic challenge and must take into account additional issues such as diagnostic difficulties and frequent drug resistance. Advances in genomic technologies improved our understanding of epilepsy and raised the possibility to develop patients-tailored treatments acting on the key molecular mechanisms involved in the development of the disease. In addition to conventional antiseizure medications (ASMs), ketogenic diet, hormone therapy and epilepsy surgery play an important role, especially in cases of drugresistance. This review aims to provide a comprehensive overview of the mainfactors influencing cognition in children and adolescents with epilepsy and the main therapeutic options available for the epilepsies associated with intellectual disability.


Assuntos
Disfunção Cognitiva , Dieta Cetogênica , Epilepsia , Deficiência Intelectual , Criança , Humanos , Adolescente , Epilepsia/tratamento farmacológico , Cognição
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