This study was conducted to culturally adapt the Epilepsy-Related Apathy Scale in Adults with Epilepsy (E-RAS) to Turkish and to assess its psychometric properties in adult epilepsy patients.
A total of 172 epilepsy patients receiving care at the Neurology clinic and outpatient clinic of Fırat University Hospital from February to July 2023 were included in this methodological investigation. The E-RAS was translated into Turkish, and its content and construct validity were thoroughly examined. Construct validity was assessed through exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). Reliability was evaluated through item analyses, internal consistency analysis, composite reliability coefficient, and mean explained variance analysis.
The factor loadings of the scale items ranged from 0.66 to 0.89. The fit index values of the scale were X2 = 467.09, df = 245 (p <0.05), X2/df = 1.9, RMSEA = 0.073, CFI = 0.97, RMR = 0.046, SRMR = 0.057, TLI = 0.97, and AIC = 557.09. The Cronbach's alpha coefficients of the sub-dimensions of the scale ranged from 0.880 to 0.992, and the total Cronbach's alpha coefficient was 0.928. The total McDonald's omega coefficient was 0.916, and the McDonald's omega coefficients of the sub-dimensions ranged from 0.880 to 0.947. The Turkish form of the 24-item and 4-sub-dimensional scale was validated without any changes to the original scale form.
The Turkish adaptation of E-RAS is a valid and reliable instrument for measuring apathy in adult epilepsy patients. Its use in clinical practice is strongly recommended.
The E-RAS scale can be used to assess apathy in adults with epilepsy. The was determined that the adapted Turkish form had a similar structure to the original scale. It was determined that the E-RAS scale is valid and reliable in Turkish culture. The fact that the Turkish adaptation of the scale is similar to the original structure and other adapted cultures is a factor that facilitates its use and acceptance in international comparisons. The scale can be used to assess apathy in adults with epilepsy.
Epilepsy is one of the common chronic neurological diseases, affecting more than 70 million people worldwide. The brains of people with epilepsy exhibit a pathological and persistent propensity for recurrent seizures. Epilepsy often coexists with cardiovascular disease, cognitive dysfunction, depression, etc., which seriously affects the patient's quality of life. Although our understanding of epilepsy has advanced, the pathophysiological mechanisms leading to epileptogenesis, drug resistance, and associated comorbidities remain largely unknown. The use of newer antiepileptic drugs has increased, but this has not improved overall outcomes. We need to deeply study the pathogenesis of epilepsy and find drugs that can not only prevent the epileptogenesis and interfere with the process of epileptogenesis but also treat epilepsy comorbidities. Sphingosine-1-phosphate (S1P) is an important lipid molecule. It not only forms the basis of cell membranes but is also an important bioactive mediator. It can not only act as a second messenger in cells to activate downstream signaling pathways but can also exert biological effects by being secreted outside cells and binding to S1P receptors on the cell membrane. Fingolimod (FTY720) is the first S1P receptor modulator developed and approved for the treatment of multiple sclerosis. More and more studies have proven that the S1P signaling pathway is closely related to epilepsy, drug-resistant epilepsy, epilepsy comorbidities, or other epilepsy-causing diseases. However, there is much controversy over the role of certain natural molecules in the pathway and receptor modulators (such as FTY720) in epilepsy. Here, we summarize and analyze the role of the S1P signaling pathway in epilepsy, provide a basis for finding potential therapeutic targets and/or epileptogenic biomarkers, analyze the reasons for these controversies, and put forward our opinions.
This article combines the latest research literature at home and abroad to review the sphingosine 1-phosphate signaling pathway and epileptogenesis, drug-resistant epilepsy, epilepsy comorbidities, other diseases that can cause epilepsy, as well as the sphingosine-1-phosphate signaling pathway regulators and epilepsy, with the expectation of providing a certain theoretical basis for finding potential epilepsy treatment targets and/or epileptogenic biomarkers in the sphingosine-1-phosphate signaling pathway.
Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively. However, owing to immense molecular and genetic progress in the last decades, important features of their pathomechanisms have been elucidated. This has led to advancements in the development of novel diagnostic approaches and specific therapies for a considerable number of these unique disorders. This review provides an overview of the broad approach to the diagnosis and management of IMEs, along with their eminent and new individual treatment options, ranging from dietary therapies and vitamins to enzyme and gene replacement therapies. PLAIN LANGUAGE SUMMARY: Inherited metabolic disorders (IMDs) in which epilepsy is a main symptom are considered inherited metabolic epilepsies (IMEs). It is challenging to develop targeted therapies for IMEs since they are rare and individually different in characteristics. Therefore, many of the IMEs are currently treated only symptomatically. However, scientific progress in the last decades led to the creation of specific treatments for many of these unique disorders. This review provides an overview of the approach to the diagnosis and management of IMEs, including the available newer therapeutic modalities.
Generalized epilepsy is classically thought of as a disease of the young and adolescent, with rarely reported cases among older adults. We aimed to analyze management and outcomes in a population sparsely described in the literature through a retrospective single-center cohort design. After excluding individuals without follow-up, we identified 151 people ≥50 years at the time of electrographically confirmed generalized epilepsy. Just over a quarter were late-onset (≥26 years), and 77% were diagnosed with genetic generalized epilepsy (GGE). Active seizures (in the last year of follow-up) were present in 57% of individuals, despite most of them having experienced prolonged seizure remission periods (median 7 years) in the past. Only five people were off antiseizure medication (ASM) at their last appointment, with most on an average of 2 ASMs. The odds of active epilepsy at the last follow-up were significantly higher among those with polyspikes (odds ratio [OR] = 2.42; 95% confidence interval [CI] = 1.01–6.01), myoclonic seizure history (OR = 2.88, 1.23–6.96), and developmental delay (OR = 4.75, 1.45–19.3). The odds were 60% lower in older adults with family history (OR = 0.4, 0.17–5.68). Our findings suggest that most older adults with generalized epilepsy achieve years of seizure remission, but the likelihood of epilepsy resolution is low.
Generalized epilepsy is seldom seen in older adults. We looked at 151 patients diagnosed with generalized epilepsy over the age of 50 to see how they are managed and what influences their outcomes. We found that although these patients can control their seizures with medication, the chance that their epilepsy resolves is low. Patients with certain characteristics classically seen in an epilepsy called “Juvenile Myoclonic Epilepsy” (JME) may have a more intractable course.
People with epilepsy (PWE) are at higher risk of psychiatric disorders (PD), disability, and reduced quality of life than the general population, especially in childhood and adolescence and when seizures originate from the temporal lobe. Temporal Lobe Epilepsy (TLE) is the most common type of focal epilepsy and can be due to structural abnormalities, or non-lesional causes, such as genetic variants. The prevalence of PD is approximately 20%–30% in people with epilepsy in general, and from 40% up to 80% in people with TLE. A higher rate of anxiety and depression disorders has been observed in association with TLE than with extra-temporal epilepsy, or idiopathic generalized epilepsy, or other chronic diseases such as diabetes. However, while the association between psychopathology and TLE has been extensively assessed in adults, only a few studies have focused on its expression in children and adolescents. In this review, we describe the prevalence, characteristics, and risk factors for PD in people with epilepsy in general and with TLE, with a specific focus on the pediatric age. In addition, we provide insights into the current knowledge of the pathophysiological bases of psychiatric symptoms in children and adolescents with TLE.
This review examines the frequency and characteristics of psychiatric disorders in people with temporal lobe epilepsy, with a focus on children and adolescents.
Similarly to adults, younger people with epilepsy have higher rates of psychiatric disorders, such as depression and anxiety, than healthy peers or children with other chronic illnesses such as diabetes and asthma. Contributing risk factors include epilepsy duration and severity, and the effects of antiseizure medications, as well as psychological challenges, sociocultural influences, and family dynamics. Psychiatric disorders associated with temporal lobe epilepsy are relatively frequent, probably in relation to the critical role that some limbic structures in the temporal lobe, such as the amygdala and hippocampus, play in regulating emotions and behavior.
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies. Overall, the picture suited progressive myoclonus epilepsy. Electroretinogram was normal. A skin biopsy revealed a mixed storage of curvilinear and fingerprint profiles. A brain MRI showed severe cortical atrophy. Performing genetic analyses, two biallelic variants were identified in the CLN6 gene, each inherited from one of the healthy parents, one c.722T>C, p.(Met241Thr) already described in the late-infantile form and the other one c.486+28T>C, intronic and novel, causing aberrant splicing. In the patient, the expression of the allele containing c.722T>C variant was increased, in comparison with the carrier parent. The peculiar genetic pattern observed in the patient could explain a milder clinical picture when compared with late-infantile form, since CLN6 expression was partially preserved. However, the presence of a delay, and the early cognitive decline suggested a continuum phenotype connecting late-infantile and adult CLN6-related forms.
We report a patient with CLN6 disease who developed symptoms at an intermediate age: 9 years for mild intellectual disability and 14 years for occipital seizures and progressive myoclonus epilepsy, without visual impairment. The patient is compound heterozygous for a CLN6 missense variant c.722T>C, p.(Met241Thr) already described in the late-infantile form and for a novel intronic variant c.486+28T>C, causing aberrant splicing. In the patient, the expression of the allele containing c.722T>C variant was increased, compared with the carrier parent. The splice site variant had a milder effect. The peculiar genetic pattern may explain the continuum phenotype between late-infantile and adult forms.
To explore the potential efficacy of early initiation of intravenous cyclophosphamide (IVCPA), we reviewed consecutive four cases of super-refractory cryptogenic-new onset refractory status epilepticus (C-NORSE) between 2015 and 2023. We compared functional outcomes at 3 months and 1 year after the onset between patients who received IVCPA within 20 days (early-treated) and those who received it later (late-treated). All patients (median age: 43 years) had a prodromal fever. Brain MRI revealed symmetrically increased FLAIR signals in the medial temporal lobes of all patients. Despite initiating antiseizure medications (ASMs) and first-line immunotherapy (intravenous-methylprednisolone and immunoglobulins) within a median of 3 days from onset, SE persisted >5 days. The diagnosis of C-NORSE was suggested based on a high C-NORSE score (6/6). Thus, all patients received IVCPA a median of 15.5 days after seizure onset (three within 20 days and one at 31 days). One of the three early-treated patients also received tocilizumab. Early-treated patients exhibited shorter sedation periods (median 29 vs. 75 days) and better 1 year functional status (mRS 1–2 vs. mRS 4) compared to the late-treated patient. Early initiation of IVCPA and/or tocilizumab, along with ASMs, may contribute to a better one-year functional status in super-refractory C-NORSE patients.
This study demonstrates the potential efficacy of early administration of intravenous cyclophosphamide on one-year functional status in patients with super-refractory cryptogenic-new onset refractory status epilepticus. “Early-treated patients” who received it within 20 days of seizure onset achieved a good one-year functional status. The “late-treated patient” (Case 4) who received it later did not achieve a good functional status. Early initiation of cyclophosphamide, along with antiseizure medications, may contribute to a better one-year functional status in this population.
Left hippocampal sclerosis (HS) is associated with verbal-specific memory impairment. This association is well established for word list learning tasks, and there is some evidence that this may also be relevant to verbal paired associates learning (PAL), though the evidence is limited. We aimed to evaluate the utility of verbal PAL as a marker for left HS, compare this with word list learning, and derive cutoff scores to facilitate clinical application.
Retrospective analysis of Rey Auditory Verbal Learning Test (RAVLT) and PAL scores obtained from 116 surgically naïve temporal lobe epilepsy patients with HS (14 bilateral, 57 left, 45 right; range of N across test indices: 77–110).
Relative to right HS, left HS and bilateral HS were associated with poorer performance on PAL Hard Pairs (p < 0.001) and all RAVLT indices (p < 0.001), with performance comparable in left HS and bilateral HS (p > 0.05). PAL Hard Pairs and all RAVLT indices displayed acceptable discriminatory ability (AUC > 0.70) in classifying left-sided HS (unilateral left or bilateral HS), with RAVLT delayed recall the strongest predictor (AUC = 0.87; PAL Hard Pairs Learning and Delay = 0.80 and 0.83, respectively). Optimal cutoff scores for left-sided HS classification were generated.
Although the RAVLT delayed recall was the strongest predictor of left-sided HS, PAL Hard Pairs also demonstrated excellent discriminatory capacity, offering an additional cognitive marker of left hippocampal integrity to complement word list learning in clinical assessments.
The results of the study show that the ability to learn unrelated pairs of words (e.g., “silver”–“run”) is compromised in the setting of epilepsy with left-sided hippocampal sclerosis (HS), be it unilateral left HS or bilateral HS. The ability of unrelated word pair learning to discriminate left vs. right HS was comparable to word list learning, a task with demonstrated sensitivity to left HS. Our results suggest that the ability to learn unrelated pairs of words provides another useful marker of left-sided hippocampal compromise in epilepsy. We provide cutoff scores to facilitate clinical interpretation.
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