Epilepsia Open最新文献

Landau–Kleffner syndrome (LKS) is a rare epileptic syndrome causing language regression. In this preliminary study, we investigated the effects of simultaneous transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (rTMS) on LKS patients and the underlying mechanism based on magnetoencephalography (MEG) network analysis. Three LKS patients were included, all receiving daily stimulation for 15 days in 3 weeks, with MEG data collected to determine stimulation target and measure functional connectivity through normalized phase transfer entropy (PTE). The primary clinical outcome was measured through the Peabody Picture Vocabulary Test. Two patients with clustered spike dipoles in the right inferior parietal lobe (IPL) showed profound clinical improvement after stimulation. PTE analysis showed increased dorsal pathway information flow, mainly in the left hemisphere, and increased ventral pathway information flow in both hemispheres. This study preliminarily showed that tDCS-rTMS was safe to undergo and likely to improve language function in LKS patients. Stimulating the right IPL not only affects the right hemisphere language network but also profoundly affects the left hemisphere network that participates in language perception, processing, and understanding. The dynamic balance of the language network connections was reconstructed, which may be associated with improved language function in LKS.

Plain Language Summary

Due to the lack of effective long-term treatment options, we investigated the effects of transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (rTMS) on language function in Landau–Kleffner syndrome (LKS) patients and the possible therapeutic mechanism by magnetoencephalography network analysis. Three LKS patients were included. We found tDCS-rTMS improved language function without side effects in two of the patients whose stimulation target was the right inferior parietal lobe, possibly due to significantly enhanced information flow in bilateral language streams, indicating modulated language network connections. Thus, we preliminarily proved the safety and effectiveness of tDCS-rTMS and unveiled underlying network mechanisms.

Objective

To assess early signs of atherosclerosis following long-term treatment with the ketogenic diet therapy due to concerns regarding the impact of this low-carbohydrate, high-fat diet on cardiovascular health.

Method

In this cohort study, 28 patients aged 6 to 49 years who had been treated with ketogenic diet therapy for more than five years and 28 age- and gender-matched controls underwent ultrasound assessment of carotid intima media (cIMT). Measurements were compared between the two groups. Traditional cardiovascular risk factors were recorded in the patient group.

Results

We found increased cIMT in patients treated with the ketogenic diet compared with controls (median 0.62 mm (IQR 0.12) vs. 0.53 mm (IQR 0.14), p < 0.001). This difference increased with age (median 0.69 (IQR 0.18) vs. 0.60 mm (IQR 0.12), p = 0.029). The type of ketogenic diet (classical or modified) did not affect cIMT. Blood pressure, body mass index (BMI), and blood lipids in patients treated with the ketogenic diet for more than 5 years were within the normal range.

Significance

cIMT may be an early biomarker for cardiovascular risk and be warranted in the standard follow-up of patients with long-term ketogenic diet treatment.

Plain Language Summary

This study documents increased thickness of the inner layers of the carotid artery (carotid intima media) (cIMT) in 28 patients treated with a high-fat, low-carbohydrate, and adequate protein (ketogenic) diet for more than 5 years compared with controls and that this difference increased with age. The type of ketogenic diet (classical or modified) did not affect cIMT. Blood pressure, body mass index, and blood lipids in patients treated with the ketogenic diet for more than 5 years were within the normal range.

We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co-occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra-rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients, the presence of developmental delay, intellectual disability, and behavioral abnormalities was consistent with a primary genetic disorder—TRIO-related neurodevelopmental disorder in one, and Phelan-McDermid syndrome in the other. However, the onset of epilepsy with atypical features, coupled with progressive neurological decline in one patient and a positive family history of LD in the other, prompted the additional diagnosis of LD. These cases illustrate how overlapping clinical presentations can obscure the presence of concomitant genetic conditions, potentially delaying diagnosis and appropriate management. Our findings underscore the importance of considering dual diagnoses and show that phenotypical variability in ultra-rare disorders such as LD may be influenced by concurrent genetic conditions.

Plain Language Summary

This report describes two patients who have both Lafora disease, an ultra-rare, progressive type of epilepsy, and other rare genetic disorders that affect development and behavior. In one case, the patient showed a progressive and unusual neurological deterioration, while the other had atypical epileptic seizures and a family history of Lafora disease. These cases highlight how different genetic conditions can share similar symptoms, making it difficult to identify all the issues a patient may have. Understanding these overlaps is important for proper diagnosis and treatment.

Objective

Epilepsy affects approximately 70 million people worldwide, with 80% living in low- and middle-income countries (LMICs), where many people with epilepsy (PWE) go undiagnosed or untreated. Over the last few decades, many efforts have been made worldwide to reduce the treatment gap (TG) in LMICs. However, while Western countries emphasize personalized antiseizure medications (ASM) management in Women with Epilepsy (WwE), little data are available on this topic in LMICs. Our study aimed to assess healthcare standards regarding epilepsy in women from a rural area of Bolivia.

Methods

We interviewed a sample of WwE living in rural communities of the Bolivian Chaco, previously identified by community health workers (CHWs) and/or general practitioners (GPs) and who had been prescribed at least one ASM. A previously validated questionnaire was used addressing epilepsy management and maternal health.

Results

We interviewed 54 women aged 7–64 years. Among them, 18 (33.3%) had experienced at least one pregnancy. Of these seven (38.9%) continued ASM treatment during pregnancy, but only two received specific counseling. One woman spontaneously discontinued treatment during the pregnancy. There were 15 pregnancies while on treatment, with ASM dosage adjusted in only two cases. No major congenital malformations were reported in the offspring.

Significance

This pilot study explored the reproductive health challenges faced by WwE in rural Bolivia. The lack of data in LMICs highlights the need for awareness campaigns to ensure an adequate management of WwE in these areas.

Plain Language Summary

Women with epilepsy face additional challenges related to their reproductive and social life. There are few data on the management of epilepsy in women living in low- and middle-income countries. We performed a study in the rural areas of Bolivia to explore the standard of care of women with epilepsy. We found a lack of systematic preconceptional counseling in these women. However, there were few negative outcomes reported in their children, which may relate to the small sample size, the variable rates of responses to specific questions, and conscious concealment.

Objective

Alterations to brain structures and networks involved in central autonomic and respiratory control are possible biomarkers of SUDEP, but were mainly demonstrated in people at high risk. Postictal generalized EEG suppression (PGES) has been recorded in every case of near or confirmed SUDEP. The structural alterations underpinning PGES are not known.

Methods

This retrospective study included the brain MRIs of 100 patients with focal and generalized epilepsy who had experienced at least one generalized tonic-clonic seizure (GTCS) documented through long-term video-EEG monitoring, with PGES defined as postictal EEG activity below 10 microvolts lasting at least 20 s. Brain MRIs were parcellated into cortical and subcortical volumes, with further parcellation of thalamic subfields, and univariate and multivariate logistic regression models were applied to identify brain regions associated with PGES.

Results

PGES was observed in 52 of 100 patients. Patients with PGES were older and had a slower heart rate before and after seizures compared to those without PGES. The tonic phase of GTCS was longer in patients with PGES. Univariate logistic regression analysis identified significant associations between PGES and six brain regions: the left and right lateral occipital cortices, left and right precuneus, and left and right thalamus. Multivariate analysis revealed that the right thalamus and both precuneus were independent predictors of PGES. Further analysis of thalamic subfields showed an increased volume of the ventral anterior nucleus of the right thalamus in patients with PGES.

Significance

Structural alterations in the right thalamus and precuneus are significantly associated with the presence of PGES in epilepsy patients.

Plain Language Summary

Some people with epilepsy show a period of very low brain activity after a seizure, called PGES, which may be linked to a higher risk of sudden death. We analyzed brain scans from 100 people with epilepsy and found that two brain regions—the right thalamus and the precuneus—were different in those with PGES. These findings may help doctors understand which patients are more at risk after seizures and how to better protect them.