Search Results (32)

Background and Objectives: The use of antiseizure medications (ASMs) during pregnancy is critical to seizure control in women with epilepsy but raises concerns regarding the use of these drugs and their possible effect on the maternal serum biochemical markers used for second-trimester prenatal screening. The aim of this study was to assess the effect of ASMs on the levels of maternal serum alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG) assessed in the serum biomarker analyses part of second-trimester prenatal screening. Materials and Methods: This retrospective cohort study included 43 pregnant women in the ASM-exposed group (levetiracetam, lamotrigine, carbamazepine, or combined therapy) and 43 matched controls without medication use. Groups were matched based on maternal age, gravidity, parity, abortion history, gestational age at testing, body mass index, and smoking status with propensity score matching. Serum AFP, uE3, and hCG levels measured at 15–20 weeks of gestation were compared between groups. The incidence of fetal congenital anomalies or aneuploidies was also compared between groups. Results: Pregnant women in the ASM-exposed group had significantly higher maternal serum AFP (1.34 ± 0.42 vs. 1.01 ± 0.31 MoM; p < 0.001) and uE3 (1.28 ± 0.39 vs. 1.05 ± 0.34 MoM; p = 0.004) than the controls. However, hCG did not differ significantly between the groups (1.07 ± 0.46 vs. 1.01 ± 0.42 MoM; p = 0.523). Regarding the ASM subgroups (levetiracetam, lamotrigine, and carbamazepine), there were no significant differences in the serum biomarkers (p > 0.05). There was no significant difference between the ASM-exposed and control groups in terms of the incidence of congenital anomalies or aneuploidies (2.3% in the ASM-exposed group vs. 2.3% in the control group; p = 1.000). Conclusions: The use of ASMs during pregnancy significantly alters second-trimester maternal serum biochemical markers, including our primary concerns, AFP and uE3, which could cause inaccurate interpretations of second-trimester prenatal screening. Clinicians should carefully consider maternal medication exposure when interpreting these biochemical markers in pregnant women with epilepsy to prevent the misclassification of fetal risks and avoid unnecessary invasive procedures. Full article

Background and Objectives: Arteriovenous malformations (AVMs) are abnormal connections between arteries and veins, lacking a normal capillary network. Seizures are a common clinical manifestation in patients with brain AVMs, ranking as the second most frequent presentation. The objective of this study was to evaluate the dynamics of seizure activity in patients with brain AVMs following surgical treatment. Materials and Methods: This study included 27 patients with brain AVMs who underwent microsurgical AVM resection for symptomatic epilepsy. All surgical interventions were performed at JSC “National Centre for Neurosurgery” between 2008 and 2020. Results: Over an average follow-up period of 98.07 ± 45.6 months, 82 patients with brain AVMs underwent open microsurgical resection at the National Centre for Neurosurgery. Among them, 27 patients presented with seizures and had complete follow-up information, qualifying them for inclusion in this study. The participants had a mean age of 32.59 ± 9.06 years, with 13 of them being women. The Spetzler–Martin grading system was used to classify the AVMs: 6 patients had grade 1, 13 had grade 2, 7 had grade 3, and 1 had grade 4. More than half of the patients experienced generalized seizures. Microsurgical removal of the AVMs resulted in seizure remission for all patients. Only one patient experienced postoperative hemorrhage during the follow-up period. Additionally, one patient developed acute postoperative anemia, which resolved with a favorable outcome. Conclusions: Microsurgical resection of brain AVMs, when performed with careful patient selection, leads to a significant reduction in seizure activity. It is a safe and effective treatment option for symptomatic epilepsy associated with brain AVMs. Full article

Background: Tuberous sclerosis complex (TSC) can present prenatally, often with cardiac rhabdomyomas, which, if large, may cause complications such as hydrops fetalis and reduced cardiac output. Prenatal treatment of these lesions with mTOR inhibitors, approved for other TSC manifestations, is under investigation. We hypothesize that mTOR inhibitors could help manage or prevent other TSC-related conditions, particularly neurological issues like epilepsy and CNS lesions, potentially improving neurodevelopmental outcomes. However, the safety of prenatal mTOR treatment remains a concern, especially for foetal development, and limited data are available on neurological outcomes. Methods: We conducted a literature review using PubMed, EMBASE, and Cochrane CENTRAL, focusing on studies involving mTOR inhibitors for prenatal TSC management. The search included case reports and series involving pregnant women diagnosed with TSC or early manifestations like cardiac rhabdomyomas. Keywords included “mTOR Inhibitor”, “Rapamycin”, “tuberous sclerosis complex”, “prenatal”, and “rhabdomyoma”. Results: Three prenatal mouse studies and eight papers reporting on ten pregnant women treated with mTOR inhibitors were identified. Conclusions: The literature confirms that prenatal mTOR inhibitors may reduce cardiac rhabdomyomas. However, further studies are needed to explore their broader potential, particularly in preventing neurological complications, while carefully considering their impact on intrauterine growth and neurodevelopment. Full article

Background: Patients with supratentorial cavernous malformations (SCMs) commonly present with seizures. First-line treatments for cavernoma-related epilepsy (CRE) include conservative management (antiepileptic drugs (AEDs)) and surgery. We compared seizure outcomes of CRE patients after early (≤6 months) vs. delayed (>6 months) surgery. Methods: We compared outcomes of CRE patients with SCMs surgically treated at our large-volume cerebrovascular center (1 January 2010–31 July 2020). Patients with 1 sporadic SCM and ≥1-year follow-up were included. Primary outcomes were International League Against Epilepsy (ILAE) class 1 seizure freedom and AED independence. Results: Of 63 CRE patients (26 women, 37 men; mean ± SD age, 36.1 ± 14.6 years), 48 (76%) vs. 15 (24%) underwent early (mean ± SD, 2.1 ± 1.7 months) vs. delayed (mean ± SD, 6.2 ± 7.1 years) surgery. Most (32 (67%)) with early surgery presented after 1 seizure; all with delayed surgery had ≥2 seizures. Seven (47%) with delayed surgery had drug-resistant epilepsy. At follow-up (mean ± SD, 5.4 ± 3.3 years), CRE patients with early surgery were more likely to have ILAE class 1 seizure freedom and AED independence than those with delayed surgery (92% (44/48) vs. 53% (8/15), p = 0.002; and 65% (31/48) vs. 33% (5/15), p = 0.03, respectively). Conclusions: Early CRE surgery demonstrated better seizure outcomes than delayed surgery. Multicenter prospective studies are needed to validate these findings. Full article

Neurocysticercosis (NCC), the infection of the central nervous system caused by Taenia solium larvae (cysticerci), is a major cause of acquired epilepsy worldwide. Calcification in NCC is the most common neuroimaging finding among individuals with epilepsy in T. solium-endemic areas. We describe the demographic, clinical, and radiological profiles of a large hospital cohort of patients with calcified NCC in Peru (during the period 2012–2022) and compared profiles between patients with and without a previous known diagnosis of viable infection. A total of 524 patients were enrolled (mean age at enrollment: 40.2 ± 15.2 years, mean age at symptom onset: 29.1 ± 16.1 years, 56.3% women). Of those, 415 patients (79.2%) had previous seizures (median time with seizures: 5 years, interquartile range (IQR): 2–13 years; median number of seizures: 7 (IQR: 3–32)), of which 333 (80.2%) had predominantly focal to bilateral tonic-clonic seizures; and 358 (68.3%) used antiseizure medication). Patients had a median number of three calcifications (IQR: 1–7), mostly located in the frontal lobes (79%). In 282 patients (53.8%) there was a previous diagnosis of viable infection, while 242 only had evidence of calcified NCC since their initial neuroimaging. Most patients previously diagnosed with viable infection were male, had previous seizures, had seizures for a longer time, had more calcifications, and had a history of taeniasis more frequently than patients without previously diagnosed viable infection (all p < 0.05). Patients with calcified NCC were heterogeneous regarding burden of infection and clinical manifestations, and individuals who were diagnosed after parasites calcified presented with milder disease manifestations. Full article

Caffeine is a psychoactive substance that is widely consumed by individuals of various demographics, including pregnant women. It can readily cross the blood–brain and placental barriers, easily reaching the fetal brain. In addition, caffeine has also shown antioxidant properties, as its consumption reduces oxidative stress in various pathologies, including epilepsy. Febrile seizures (FS) are among the most common convulsive disorders in infants and young children. Here, we used an animal model of FS to learn whether maternal caffeine (1 g/L) intake consumption during gestation and lactation could exert beneficial effects on the rat cortex. Neonatal development was analyzed by measuring pinna opening, eye opening, righting reflex on the surface, and geotaxis reflex. Five and twenty days after HIS, the rats were euthanized, and plasma membranes and cytosolic fractions were isolated from their cortex brain. The enzymatic activities of glutathione reductase, glutathione S-transferase, Na⁺/K⁺-ATPase, and Mg²⁺-ATPase, as well as the levels of thiobarbituric acid reacting substances, were quantified. Results showed that maternal caffeine intake eliminates oxidative stress and normalizes Na⁺/K⁺-ATPase activity disrupted by HIS and also affects some parameters relating to the neurodevelopment of neonates. As FS in infants has been related to epilepsy in adults, the antioxidant properties of caffeine could prevent potential damage from hyperthermia. Full article

Rett syndrome (RTT) is a neurodevelopmental disorder marked by profound cognitive, communication, and motor impairments. Despite identified genotype/phenotype connections, the extent of clinical severity varies even among individuals sharing the same genetic mutation. Diverse sociocultural environments, such as the level of inclusivity of the scholar system, the time spent with family, and the intensity of the rehabilitative intervention provided, might influence their development diversely. This study examines the severity of RTT in people in Italy and Israel, countries with distinct contradictory approaches to caring for those with intricate disabilities, across two age groups. Data from 136 Italian and 59 Israeli girls and women with RTT were assessed and divided into two age categories: above and below 12 years. The RARS, a standardized RTT-specific clinical severity tool, was administered. Despite no differences in age and genetic characteristics, the Italian group showed better scores in the RARS motor and disease-related characteristics areas in both age groups. Moreover, the young Italian participants gathered better total RARS scores and emotional and behavioral characteristics area scores. Furthermore, the young group showed significantly less scoliosis, foot problems, and epilepsy than the older group. These findings endorse the inclusion of girls with RTT in the regular schooling system for a limited daily period, investing in high activity levels within the home and community environments, and suggest continuously providing the person with daily occasions of physical activity and socialization. Full article

Background: Since antimicrobial overuse and misuse can have substantial impacts on both public health and fetal well-being, it is essential to gain comprehensive insights into antimicrobial consumption patterns in pregnant women. This study aims to demonstrate antimicrobial utilization in pregnant women. Methods: We conducted a population-based cohort study using National Health Insurance claims data from January 2009 to December 2020 in South Korea. The target population was pregnancies in women aged 15–45 years who gave birth between 2011 and 2019. The outcome measure was the percentage of antibiotic prescriptions by trimester, subgroup, diagnostic category, and therapeutic category. Antibiotics were defined as J01 in the WHO ATC/DDD classification. To analyze the factors that influenced antibiotic prescriptions, we conducted multivariate logistic regression analysis. Results: Antibiotics were prescribed at least once in 1,808,588 (50%) of the 3,614,478 pregnancies. The proportion of deliveries with exposure to antibiotic therapy during pregnancy increased from 48% in 2011 to 54.8% in 2020. The prescription rate of antibiotics was highest in mothers younger than 25 years old, and it was lowest in participants aged 30–34 years. Also, antibiotic use was highest in the first trimester (30%) and lowest in the second trimester (18.2%). The most commonly used class was J01D (other beta-lactam antibacterials), which includes cephalosporins, and it accounted for 57% of the prescribed antibiotics. An increased probability of being prescribed antibiotics was associated with those younger than 25 years old, insurance (Medical Aid), hospitalization experience, an increase in physician visits, and comorbidities. For comorbidities, the OR was higher for respiratory tract infection (RTI), sexually transmitted infection, and urinary tract infection compared to those without disease, whereas it was decreased for diabetes and epilepsy. Conclusion: The prescribing rate of antibiotics to pregnant women in South Korea has remained stably high. Also, an increase in the use of broad-spectrum beta-lactam penicillin was noted. It is necessary to monitor antibiotics in pregnant women generally in accordance with recommendations. Full article

Valproic acid (VPA) is a known drug for treating epilepsy and mood disorders; however, it is not recommended for pregnant women because of its possible teratogenicity. VPA affects neurotransmission and gene expression through epigenetic mechanisms by acting as a histone deacetylase inhibitor and has been used to establish animal models of autism spectrum disorder (ASD). However, studies on the long-term effects of early exposure to VPA on glucocorticoid and neurosteroid synthesis in the brain are lacking. Therefore, this study aimed to investigate the long-term changes in metabolic alterations and gene expression regulation according to sex, using metabolic steroid profiling data from cerebral cortex samples of rats four weeks after VPA exposure (400 mg/kg). In neonatal VPA-exposed models, estradiol levels decreased, and cytochrome P450 19A1 gene (Cyp19a1) expression was reduced in the prepubertal male cortex. Progesterone and allopregnanolone levels decreased, and 3β-hydroxysteroid dehydrogenase 1 gene (Hsd3b1) expression was also downregulated in the prepubertal female cortex. Furthermore, cortisol levels increased, and mRNA expression of the nuclear receptor subfamily 3 group C member 1 gene (Nr3c1) was downregulated in the cortices of both sexes. Unlike the neonatal VPA-exposed models, although a decrease in progestin and estradiol levels was observed in females and males, respectively, no differences were observed in cortisol levels in the cortex tissues of 8-week-old adult rats administered VPA for four weeks. These results indicate that early environmental chemical exposure induces long-term neurosteroid metabolic effects in the brain, with differences according to sex. Full article

Background: The aim of this study was to analyze whether prescriptions of antiepileptic drugs (AEDs) are significantly associated with an increased incidence of Parkinson’s disease (PD) in the German population. Methods: This study used data from German primary care practices found in the Disease Analyzer database (IQVIA) and included all patients aged ≥18 years who were diagnosed with PD between January 2010 and December 2021 (index date). The controls were patients without PD matched (1:1) by age, sex, and pre-diagnostic observation time in years. Associations between AED prescriptions (any AED as well as separate evaluations for carbamazepine, lamotrigine, levetiracetam, sodium valproate, gabapentin, and pregabalin) and subsequent diagnosis of PD were examined using a logistic regression model adjusted for epilepsy, restless legs syndrome, and neuropathy diagnoses. Results: We identified 24,950 cases that were matched with 24,950 controls (mean age 75.2 years, 47.3% women). Diagnoses of epilepsy, restless legs syndrome, and neuropathy as well as AED prescription were significantly associated with an increased incidence of PD. In the multivariate analysis, incidence of PD was significantly associated with epilepsy (OR: 1.91; 95% CI: 1.69–2.15), restless legs syndrome (OR: 3.02; 95% CI: 2.73–3.34), and neuropathy (OR: 1.53; 95% CI: 1.44–1.62)), as well as the prescription of any AED (OR: 1.43; 95% CI: 1.33–1.53), sodium valproate (OR: 2.39; 95% CI: 1.84–3.11), gabapentin (OR: 1.36; 95% CI: 1.22–1.52), and pregabalin (OR: 1.28; 95% CI: 1.15–1.41). Conclusion: Prescriptions of AEDs, including sodium valproate, gabapentin, and pregabalin, were associated with an increased risk of subsequent PD, even after adjustment for underlying diagnoses. Further studies are needed to confirm the present results. Full article

The aim of this retrospective analysis is to determine the most frequently prescribed medications for the treatment of NREM parasomnias and evaluate reported outcomes. We performed a retrospective chart review of all patients with NREM parasomnia diagnosed within Brigham and Women’s Hospital (BWH) clinics examining the date of diagnosis, date of starting therapy, comorbidities, type of medication prescribed, and the reported change in symptoms or side effects at follow-up visits. From 2012 to 2019, 110 patients (59 females, 51 male) at BWH clinics received a diagnosis of NREM parasomnia, including sleepwalking and night terrors. The mean age was 44. Comorbidities included obstructive sleep apnea (OSA) (46%), periodic limb movement syndrome (PLMS) (13%), insomnia (19%), Restless leg syndrome (RLS) (9%), epilepsy (4%), and REM behavior disorder (RBD) (9%). Initial treatment strategies include behavioral and safety counseling only (34%), pharmacological treatment (29%), treatment of any comorbidity (28%), and combined treatment of any of the above (9%). Improvement was reported with: treatment of OSA (n = 23 52% reported improvement), melatonin (n = 8, improvement reported by 88%.,benzodiazepine (n = 7, improvement reported by 57%). Treating comorbid conditions is a frequent treatment strategy, often associated with symptom improvement. The pharmacologic treatment most commonly included melatonin and benzodiazepines. Comprehensive management should include behavioral and safety recommendations, assessment of comorbid conditions, and individually tailored pharmaceutical treatment. Full article

Data from literature suggest that the rate of caesarean section (CS) in women with epilepsy (WWE) is higher than in the general population. In Poland, there is neither a national registry nor another data set to access the outcome of pregnancy in WWE. Therefore, we address this gap by prospectively studying CS rates among 1021 WWE pregnancies at a single centre, their trends over time, and factors increasing the likelihood of the CS. To determine whether the diagnosis of epilepsy itself increased this likelihood, mixed models were used to analyse the contributions of specific variables, including the presence of seizures at different pregnancy-related timepoints. Over 20 years, the mean rate of CS in WWE was progressively growing and was higher than in the general population in Mazovia (47% vs. 32%). Generalized seizures in the third trimester increased the likelihood of CS with the highest odds (OR 4.4). The most frequent indication for a CS was obstetric (58.1%), followed by epilepsy-related (25.2%). Almost half of women who indicated epilepsy as the sole reason for CS had no seizure during pregnancy, and nearly 70% did not have generalized seizures. This suggests the overuse of epilepsy as an indication of CS and encourages defining more strict criteria. Full article

(1) Background: Based on the premise that epilepsy is frequently associated with hypnopathies, in this study we aim to analyze the prevalence of sleep disturbances among patients with epilepsy, with exclusively or predominantly nocturnal seizures, in relation to demographic factors as well as clinical and electroencephalography (EEG) aspects. (2) Methods: 69 patients with nocturnal epilepsy were included in our study. Sleep disturbances were measured with the Pittsburgh Sleep Quality Index (PSQI) questionnaire, followed by a long-term video-EEG monitoring during sleep. We analyzed the PSQI results in relation to patients’ gender and age and determined the correlations between the PSQI scores and the modifications on video-EEG recordings, in comparison to a control group of 25 patients with epilepsy but without nocturnal seizures. (3) Results: We found a statistically significant difference between the PSQI of patients with nocturnal seizures compared to those without nocturnal epileptic manifestations. In the experimental group, the mean PSQI score was 7.36 ± 3.91 versus 5.04 ± 2.56 in controls. In women, the average PSQI score was 8.26, whilst in men it only reached 6.41, highlighting a statistically significant difference between genders (p ˂ 0.01). By examining the relationships between the PSQI scores and certain sleep-related factors, evidenced on the nocturnal video-EEG, we found a statistically significant difference between PSQI values of patients who reached the N2 stage, and those who reached the N3 stage of nonrapid eye movement (NREM) sleep, highlighting that those with a more superficial nocturnal sleep also had higher PSQI scores. There were no statistically significant differences regarding the PSQI scores between patients with or without interictal epileptiform discharges, and also in the few patients with nocturnal seizures where we captured ictal activity. (4) Conclusions: we evidenced in this study a poor quality of sleep in patients with nocturnal epilepsy, mostly in women, independent of age. We observed that sleep disturbances were due to superficial and fragmented sleep with frequent microarousals, not necessarily caused by the electrical epileptiform activity. Full article

Vitamin D is essential for maintaining serum calcium levels, ensuring sufficient bone mineralization, immunomodulatory properties, and a protective effect on the cardiovascular system, renal disease, cancer, as well as in pregnancy. Vitamin D deficiency is prevalent worldwide, and it is not related to a country’s development index. However, the data on vitamin D deficiencies are primarily taken from out-of-date, small-scale studies on target age groups or specific diseases, rather than from large-scale, population-based surveys. In Malaysia, for the past 16 years, studies were conducted involving adult men and women, pregnant women, postmenopausal women, adolescent, and children especially with specific diseases such as spina bifida, epilepsy, chronic liver disease, and atopic dermatitis. Only a few large surveys were conducted involving children and adolescents. Across the specific target population studied, vitamin D deficiency and insufficiency were seen particularly among females, Indians, and those of Malay ethnicity. This is related to widely known causes of vitamin D deficiency such as skin type (melanin) and sun avoidant lifestyles that include covering clothes, largely practiced by Malay Muslims in Malaysia. Other related causes or the high-risk groups are breastfed infants, the elderly, the obese, those on medications, and those characterized by fat malabsorption and geophysical factors. Vitamin D deficiency can be managed with pharmacological or non-pharmacological approaches, depending on the severity. The objective is to raise serum vitamin D to a normal level, hence, relieving the symptoms and reducing the adverse health outcomes. Despite no clear guidelines in treating vitamin D deficiency in Malaysia, this condition can be prevented with taking adequate vitamin D in food resources, sun exposure, or supplementation. Special attention should be given to high-risk groups including infants, obese patients, and the elderly. Full article

An estimated 60 million people worldwide suffer from epilepsy, half of whom are women. About one-third of women with epilepsy are of childbearing age. The childbirth rate in women with epilepsy is about 20–40% lower compared to that of the general population, which may be partly due to a lower number of these women being in relationships. Lower fertility in women with epilepsy may be linked to the disease itself, but it is mainly a result of the treatment provided. Valproate, as an antiepileptic drug inhibiting histone deacetylases, may affect the expression of genes associated with cell cycle control and cellular differentiation. Evidently, this drug is associated with the risk of malformations although other antiepileptic drugs (AEDs) may also trigger birth defects, however, to a lower degree. Valproate (and to a certain degree other AEDs) may induce autism spectrum disorders and attention deficit hyperactivity disorder. The main mechanism responsible for all negative effects of prenatal exposure to valproate seems inhibition of histone deacetylases. Animal studies show a reduction in the expression of genes involved in social behavior and an increase in hippocampal cytokines. Valproate-induced oxidative stress may also contribute to neural tube defects. Interestingly, paternal exposure to this AED in mice may trigger neurodevelopmental disorders as well although a population-based cohort study does not confirm this effect. To lower the risk of congenital malformations and neurodevelopmental disorders, a single AED at the optimal dose and supplementation with folic acid is recommended. VPA should be avoided in women of childbearing age and especially during pregnancy. Full article