BACKGROUND AND OBJECTIVES

Epilepsy is a very common pediatric neurologic disorder, and the mainstay of treatment is the use of anti-seizure medication. Several factors may cause inadequate adherence leading to uncontrolled seizures, lower quality of life, and neurodevelopmental consequences. This study aimed to determine medication adherence of adolescents with epilepsy and identify factors that may be associated in medication adherence.

This is a prospective cross-sectional study involving adolescents with epilepsy. A self-reported survey was used to measure adherence. Data on demographics and epilepsy were then assessed for presence of association with adherence.

Fifty-one participants were included. Of these, 19.6% were non-adherent, 35.3% had medium adherence, and 45.1% had high adherence. Simple logistic regression analysis showed that unemployed primary caregiver is associated with 7.0 times higher odds of having moderate-high adherence and consuming at least three drugs is associated with 0.3 lower odds of having moderate-high adherence.

As high as 80.4% of adolescents were adherent to their medications. The presence of a caregiver who can closely monitor the patient is associated with adherence while intake of several drugs is associated with nonadherence. Future studies may need larger sample size and explore knowledge, attitude, and other social factors that may influence medication adherence.

Background and Objectives: Epilepsy is a very common pediatric neurologic disorder, and the mainstay of treatment is the use of anti-seizure medication. Several factors may cause inadequate adherence leading to uncontrolled seizures, lower quality of life, and neurodevelopmental consequences. This study aimed to determine medication adherence of adolescents with epilepsy and identify factors that may be associated in medication adherence. Methods: This is a prospective cross-sectional study involving adolescents with epilepsy. A self-reported survey was used to measure adherence. Data on demographics and epilepsy were then assessed for presence of association with adherence. Results: Fifty-one participants were included. Of these, 19.6% were non-adherent, 35.3% had medium adherence, and 45.1% had high adherence. Simple logistic regression analysis showed that unemployed primary caregiver is associated with 7.0 times higher odds of having moderate-high adherence and consuming at least three drugs is associated with 0.3 lower odds of having moderate-high adherence. Conclusion As high as 80.4% of adolescents were adherent to their medications. The presence of a caregiver who can closely monitor the patient is associated with adherence while intake of several drugs is associated with nonadherence. Future studies may need larger sample size and explore knowledge, attitude, and other social factors that may influence medication adherence.
adolescents ; epilepsy

The prefrontal cortex and hippocampus may support sequential working memory beyond episodic memory and spatial navigation. This stereoelectroencephalography (SEEG) study investigated how the dorsolateral prefrontal cortex (DLPFC) interacts with the hippocampus in the online processing of sequential information. Twenty patients with epilepsy (eight women, age 27.6 ± 8.2 years) completed a line ordering task with SEEG recordings over the DLPFC and the hippocampus. Participants showed longer thinking times and more recall errors when asked to arrange random lines clockwise (random trials) than to maintain ordered lines (ordered trials) before recalling the orientation of a particular line. First, the ordering-related increase in thinking time and recall error was associated with a transient theta power increase in the hippocampus and a sustained theta power increase in the DLPFC (3-10 Hz). In particular, the hippocampal theta power increase correlated with the memory precision of line orientation. Second, theta phase coherences between the DLPFC and hippocampus were enhanced for ordering, especially for more precisely memorized lines. Third, the theta band DLPFC → hippocampus influence was selectively enhanced for ordering, especially for more precisely memorized lines. This study suggests that theta oscillations may support DLPFC-hippocampal interactions in the online processing of sequential information.
Adult ; Female ; Humans ; Young Adult ; Epilepsy ; Hippocampus ; Memory, Short-Term ; Mental Recall ; Prefrontal Cortex ; Theta Rhythm ; Male

Objectives: To perform a pilot study on the frequency of sleep-disturbance (Total sleep Disturbance Score (TSD) of > 41) in children diagnosed with Drug Resistant Epilepsy aged 4 to 12 years, using the Children’s Sleep Habits Questionnaire (CSHQ). Methodology: The Children’s Sleep Habits Questionnaire (CSHQ) was used to screen for sleep disturbances among 73 patients aged 4 to 12 years old with drug-resistant epilepsy seen at the Seizure Clinic of Philippine Children’s Medical Center. Descriptive statistics were used to characterize sociodemographic variables, and sleep and epilepsy-related variables. Continuous data were presented as mean ± standard deviation (SD), and categorical data as frequencies (percentages). Results: Sleep disturbances were common and severe in children with drug-resistant epilepsy. Out of the seventy-three participants, 61 patients had a TSD score of greater than 41 (84%) and 12 (16%) had TSD scores below 41 with a mean CSHQ score of 58. The most frequently occurring sleep disturbances involve the domains of bedtime resistance (29%), night wakings (28%), and daytime sleepiness (23%). Meanwhile, the least frequently occurring sleep disturbances involve the domains of sleep disordered breathing (76%), parasomnias (65%), and sleep anxiety (56%). Conclusion Majority of the children with drug-resistant epilepsy are sleep disturbed exhibiting high TSD scores (>41) using the Children’s Sleep Habits Questionnaire. We recommend to actively evaluate and screen for sleep and behavioral problems concurrently in children with epilepsy.
Epilepsy ; Pediatrics

Background: Status epilepticus (SE) is a neurological emergency requiring prompt evaluation and management to prevent disease refractoriness associated with significant mortality and morbidity. Thus, estimating costs attributable to the treatment of SE is important because of the severity of this disease. In the Philippines, healthcare provisions are mostly out-of-pocket expenses; hence the cost of treatment is a critical determinant for disease management. Unfortunately, the availability of data regarding the cost of illness of SE in developing countries is limited. Objectives: To determine the frequently used anticonvulsant drug regimen and direct inpatient costs of acute treatment for status epilepticus within five years in a private tertiary hospital in the Philippines. Methods: Records from patients diagnosed with SE who were admitted under or referred to the Adult Neurology Service in a private tertiary hospital from January 2015 to December 2019 were retrospectively evaluated. The SE type was classified as non-refractory (NRSE), refractory (RSE), and super refractory (SRSE). Demographic data, clinical features, SE type, etiology, antiepileptic drugs (AEDs) and anesthetic drugs used, total cost of AEDs and anesthetic drugs, total cost of 5-day hospitalization, and total cost of entire length of stay were recorded. Results: We retrieved the records of 61 patients admitted for SE. Of these patients, 23 were classified as nonrefractory, 20 as refractory, and 18 as super refractory. Diazepam was given to all SE patients as first-line treatment. Valproic acid and levetiracetam were used as second-line treatments. The most frequently given anesthetic drug was midazolam. The mean hospitalization cost per patient was ₱52,0982.3 for SE, ₱659,638.7 for RSE, and ₱134,1451 for SRSE. The mean cost of 5-day hospitalization was ₱193,572.3 for NRSE, ₱358,808.5 for RSE, and ₱652,781 for SRSE. The mean cost of medications was ₱18,546 for NRSE, ₱30,780 for RSE, and ₱128,263 for SRSE. Conclusion The direct cost of SE varied depending on subtype and response to treatment. Costs increased with disease refractoriness. Direct inpatient treatment costs for SRSE were twice as high as that of NRSE and RSE.
epilepsy ; status epilepticus ; hospitalization

OBJECTIVE: To analyze the acupoint selection rules of acupuncture and moxibustion for post-stroke epilepsy by data mining technology. METHODS: The literature regarding acupuncture and moxibustion for post-stroke epilepsy included in CNKI, VIP, Wanfang, SinoMed and PubMed databases from the establishment of the database to August 1st 2022 was retrieved. Microsoft Excel 2019 software was used to establish a database to conduct the descriptive analysis of acupoints; SPSS Modeler 18.0 Apriori algorithm was used to conduct association rule analysis; high-frequency acupoint co-occurrence network diagrams were drawn by Cytoscape3.9.0 software; SPSS Statistics 25.0 software was used to perform hierarchical cluster analysis on high-frequency acupoints and a tree diagram was drawn. RESULTS: Totally 39 articles were included, and 63 prescriptions of acupuncture and moxibustion were extracted, involving 56 acupoints, with a total frequency of 516 times; the top three acupoints with the highest frequency of use were Baihui (GV 20), Fenglong (ST 40) and Neiguan (PC 6); the selected meridians were mainly the governor vessel, the hand and foot yangming meridians; the selection of acupoints were mostly in the head, neck and lower limbs; in terms of acupoint compatibility, Hegu (LI 4)-Shuigou (GV 26) and Neiguan (PC 6) had the highest confidence degree; The top 20 high-frequency acupoints could be divided into 4 effective clusters. CONCLUSION Modern acupuncture and moxibustion treatment for post-stroke epilepsy attaches great importance to the use of yang meridians and meridians with enrich qi and blood; the core prescription is Shuigou (GV 26)-Neiguan (PC 6)-Hegu (LI 4)-Baihui (GV 20). In addition, the combination of distant and near acupoints is highly valued to improve clinical efficacy.
Humans ; Moxibustion ; Acupuncture Points ; Acupuncture Therapy ; Stroke/therapy* ; Data Mining ; Epilepsy

Accurate source localization of the epileptogenic zone (EZ) is the primary condition of surgical removal of EZ. The traditional localization results based on three-dimensional ball model or standard head model may cause errors. This study intended to localize the EZ by using the patient-specific head model and multi-dipole algorithms using spikes during sleep. Then the current density distribution on the cortex was computed and used to construct the phase transfer entropy functional connectivity network between different brain areas to obtain the localization of EZ. The experiment result showed that our improved methods could reach the accuracy of 89.27% and the number of implanted electrodes could be reduced by (19.34 ± 7.15)%. This work can not only improve the accuracy of EZ localization, but also reduce the additional injury and potential risk caused by preoperative examination and surgical operation, and provide a more intuitive and effective reference for neurosurgeons to make surgical plans.
Humans ; Scalp ; Brain Mapping/methods* ; Epilepsy/diagnosis* ; Electroencephalography/methods* ; Brain

OBJECTIVE: To investigate the clinical phenotype and genetic basis of a child with epilepsy and global developmental delay. METHODS: A child with epilepsy and global developmental delay who had visited West China Second University Hospital, Sichuan University on April 1, 2021 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. A literature review was also carried out by searching databases such as Wanfang data knowledge service platform, China National Knowledge Infrastructure, PubMed, ClinVar and Embase to summarize the clinical phenotypes and genotypes of the affected children. RESULTS: The child was a 2-year-and-2-month-old male with epilepsy, global developmental delay and macrocephaly. Results of WES showed that the child has harbored a c.1427T>C variant of the PAK1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Only one similar case had been recorded by the dbSNP, OMIM, HGMD, and ClinVar databases. No frequency for this variant among Asian population was available in the ExAC, 1000 Genomes, and gnomAD databases. Prediction with IFT, PolyPhen-2, LRT, Mutation Taster, and FATHMM online software suggested that this variant is deleterious to the function of encoded protein. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the PAK1 gene c.1427T>C variant was determined to be likely pathogenic. CONCLUSION The PAK1 gene c.1427T>C variant probably underlay the epilepsy and global developmental delay in this child, which has provided a reference for the clinical diagnosis and genetic counseling in children with similar disorders.
Humans ; Male ; China ; Computational Biology ; Consensus ; Epilepsy/genetics* ; Genotype ; Mutation ; p21-Activated Kinases/genetics* ; Child, Preschool

Epilepsies are a group of chronic neurological disorders characterized by spontaneous recurrent seizures caused by abnormal synchronous firing of neurons and transient brain dysfunction. The underlying mechanisms are complex and not yet fully understood. Endoplasmic reticulum (ER) stress, as a condition of excessive accumulation of unfolded and/or misfolded proteins in the ER lumen, has been considered as a pathophysiological mechanism of epilepsy in recent years. ER stress can enhance the protein processing capacity of the ER to restore protein homeostasis through unfolded protein response, which may inhibit protein translation and promote misfolded protein degradation through the ubiquitin-proteasome system. However, persistent ER stress can also cause neuronal apoptosis and loss, which may aggravate the brain damage and epilepsy. This review has summarized the role of ER stress in the pathogenesis of genetic epilepsy.
Humans ; Endoplasmic Reticulum Stress/genetics* ; Unfolded Protein Response ; Endoplasmic Reticulum/pathology* ; Apoptosis ; Epilepsy/genetics*

OBJECTIVE: To explore the clinical and genetic characteristics of two children with Williams-Beuren syndrome (WBS). METHODS: Two children who had presented at the Department of Pediatrics, General Hospital of Ningxia Medical University respectively on January 26 and March 18, 2021 were selected as the study subjects. Clinical data and results of genetic testing of the two patients were analyzed. RESULTS: Both children had featured developmental delay, characteristic facies and cardiovascular malformation. Child 1 also had subclinical hypothyroidism, whilst child 2 had occurrence of epilepsy. Genetic testing revealed that child 1 has harbored a 1.54 Mb deletion in the 7q11.23 region, whilst child 2 has a 1.53 Mb deletion in the same region, in addition with a c.158G>A variant of the ATP1A1 gene and a c.12181A>G variant of the KMT2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.158G>A and c.12181A>G variants were rated as variants of unknown significance (PM1+PM2_Supporting+PP2+PP3；PM2_Supporting). CONCLUSION Both children had characteristic features of WBS, for which deletions of the 7q11.23 region may be accountable. For children manifesting developmental delay, facial dysmorphism and cardiovascular malformations, the diagnosis of WBS should be suspected, and genetic testing should be recommended to confirm the diagnosis.
Child ; Humans ; Williams Syndrome/diagnosis* ; Genetic Testing ; Facies ; Epilepsy/genetics* ; Chromosomes, Human, Pair 7/genetics* ; Chromosome Deletion