Neuroscience Research Notes

KCNQ2 pathogenic variants in early-infantile developmental and epileptic encephalopathy in Indonesia

2025-02-07T19:02:55+08:00

Early-infantile developmental and epileptic encephalopathies (EIDEE) are characterized by developmental delays and life-threatening seizures beginning in the early infantile period. The most frequent genetic cause of neonatal epilepsy is KCNQ2-associated genetic epilepsy. We determined the pathogenic variant in EIDEE cases using KCNQ2 variant screening and whole-exome sequencing (WES) approaches. The subjects were children <18 years of age with EIDEE in our hospital. We performed the KCNQ2 pathogenic variant screening using PCR on four exons and WES in our patients. We involved six patients: three males and three females, with the patient age range between 2 and 15 months old at the time of blood sampling. One pathogenic variant in exon 6 of the KCNQ2 gene, c.868G>A (p.Gly290Ser), was found in one patient. In addition, two synonymous SNVs were also found in our patient. Our study identifies one pathogenic variant in the KCNQ2 gene in one EIDEE patient. These findings led us to give the patient a sodium channel blocker, which led to improved outcomes. Our study also suggests the importance of the KCNQ2 pathogenic variant screening for selected EIDEE patients.

A Developmental Analysis of Parts of Speech Usage in Greek-speaking Children 3-6 Years Old

2024-12-17T00:08:44+08:00

Language acquisition in all natural human languages is a process in which its foundations are laid during the formative years of early childhood when the brain undergoes developmental changes. Exploring specific linguistic components provides a detailed lens through which to understand the intricacies of language acquisition. This journal article investigates the developmental trajectory of parts of speech (POS) usage in Greek-speaking children aged 3-6 years. Leveraging a sample size of 300 participants, evenly distributed across three age groups (3-4, 4-5, and 5-6 years), the study employs a spontaneous speech sample to conduct a thorough statistical analysis. Findings reveal substantial differences in POS usage across distinct age categories and insignificant ones between boys and girls. Specifically, inflectional speech parts were more common than non-inflectional ones across all three age groups. Children used more often nouns (22.66%), verbs (22.25%), pronouns (12.63%), articles (11.98%), adverbs (10.36%), and conjunctions (10.82%). On the other hand, prepositions (4.69%), adjectives (3%), particles (1.17%), interjections (0.27%), and participles (0.16%) were used less frequently. This research provides valuable information regarding POS milestones, contributes to our understanding of language development in Greek-speaking children, and holds implications for tailored interventions and educational practices.

Assessing Mongolian children with cerebral palsy using the International Classification of Functioning, Disability and Health

2025-01-14T00:47:29+08:00

The functioning and disability of Mongolian children with cerebral palsy were assessed by applying the World Health Organization's Common Brief ICF-CY Core Set for Children and Youth with Cerebral Palsy. The cross-sectional study involved a consecutive sample of 98 children with spastic cerebral palsy (mean age 6.9 years) and their caregivers. They came from both urban and rural areas of Mongolia. The majority (65%) of the participants were spastic diplegic. Body functions, activities, participation, and interaction with the environment differed depending on the type of cerebral palsy. Brain structure did not differ, however. Regarding environmental factors, there was no significant difference between the types of products and technology used for communication, immediate family relationships, or social attitudes. The environment was the key component negatively impacting the lived experience of children with cerebral palsy in Mongolia. Overall, the findings help to identify unmet needs and can improve interventions for such children in Mongolia to meet international standards.

Electroencephalogram (EEG) based automated detection of mental disorders using artificial intelligence processing pipelines

2025-02-13T17:55:42+08:00

Bipolar disorder, major depressive disorder, and schizophrenia often have overlapping symptoms that lead to frequent misdiagnoses. To address the need for an objective, quantitative and accurate tool for diagnosing mental disorders, we developed an AI-based approach using electroencephalography (EEG) signals. Our study analysed data from Seoul National University, including EEG assessments and medical records of 383 subjects: bipolar disorder (n=67), major depressive disorder (n=199), and schizophrenia (n=117). Our method involved three steps: (1) balancing the dataset with SMOTE up-sampling, (2) extracting key features, and (3) employing machine learning and deep learning models for classification. The combination of Independent Component Analysis, ANOVA F-value, and Gradient Boosting yielded the highest accuracy of 96.67% and minimal misclassifications. These results suggest this approach could significantly improve the correct diagnosis of mental disorders, and it is feasible to quantify the EEG signals to obtain an objective computer-aided diagnosis system.

Mapping the research landscape on chronic pain and electroencephalography (EEG): a bibliometric analysis

2024-12-16T09:40:44+08:00

Chronic pain is a complex and debilitating condition that affects an estimated 1.5 billion individuals worldwide. The impact of chronic pain extends beyond the individual, with significant socioeconomic consequences, including health care costs and decreased performance. Today, electroencephalography (EEG) has become a valuable non-invasive tool in the study of chronic pain, allowing researchers to measure and analyse the brain’s electrical activity in response to pain stimuli. Thus, this bibliometric analysis evaluated the literature on chronic pain and EEG, identified main themes, authors, institutions, author keywords, and publications in the field and assessed the research impact and influence in this study area from 1972 to 2023. First, datasets were obtained from Web of Science (WoS) and Scopus, then analysed using ScientoPy and VOSviewer software. There has been a steady increase in the literature on chronic pain and EEG since 1972. In 2021, a significant number of publications (n = 69) were in WoS. Furthermore, “Neuroscience & Neurology” was the most popular subject matter, with 388 publications. Meanwhile, the top five author keywords associated with this subject were “chronic pain”, “EEG”, “fibromyalgia”, “spinal cord injury”, and “neurofeedback”. The term “machine learning” has garnered significant attention in recent years, particularly in 2022 and 2023. In summary, the trend in chronic pain and EEG research has consistently shown a rise in scholarly interest. These study findings can guide future research efforts, policy-making, and practical measures in diagnosing and managing chronic pain, which can improve patients' well-being and quality of life.

Alcohol use in paediatric medication: potential impact on the brain and the current regulation

2024-10-17T19:29:57+08:00

Alcohol is an organic solvent that can interfere with neurological function. It is frequently used as an excipient in liquid medication as a solubiliser, preservative, and odorant. The addition of alcohol to liquid medicines, especially for paediatrics, has potential risks as some alcohol metabolizing enzymes are not fully expressed in some subpopulations of paediatrics. Accumulation of alcohol in the blood interferes with normal brain function. Major medicine agencies such as the Food Drug Administration (FDA) and the European Medicine Agency (EMA) recommend the limitation of the alcohol content in paediatric drug formulations to prevent alcohol toxicity in children. However, this recommendation has been underappreciated. This review aims to explore the current regulations on alcohol restriction in paediatric medication and the application of these regulations across different countries. The halal aspect of alcohol content in the medication was also discussed. This review will improve the understanding of the potential risk of alcohol in children as well as support the safety of liquid formulations for infants and toddlers.

Task absorption and job demands: exploring task performance through neural and pupillary data

2024-11-06T22:35:46+08:00

This study investigates the relationship between task characteristics, episodic absorption, and performance, based on the job demands-resources theory. Given that modern tasks often require processing substantial data and making real-time decisions, they demand significant attentional focus. Absorption, defined as a temporary state of deep attentional engagement, is thought to enhance task performance and efficiency. To explore this, we conducted an n-back task with participants, a task that requires focused, voluntary attentional control. Physiological and neural data were collected, with a particular focus on pupillary dynamics and the P300 wave, an event-related potential marker associated with attentional and cognitive processes. The study aimed to test three hypotheses: (a) absorption, as a temporary cognitive state, enhances performance and task efficiency; (b) absorption episodes are linked to activation in the P300 wave and pupillary responses; and (c) task demands and resources significantly impact the occurrence of absorption episodes. Specifically, we expected high job demands coupled with high resources to result in frequent absorption episodes, while high demands with low resources and low demands with high resources would lead to fewer episodes. Findings from this research may provide insights into how task design and resource allocation influence cognitive engagement, shedding light on optimal work conditions that foster absorption and improve performance. This research has potential applications in designing tasks and environments that promote sustained attentional engagement, ultimately contributing to more effective, resource-aligned organizational practices.

Racial representation in the discourse processing from the psycholinguistic perspective of critical discourse analysis

2025-02-07T19:32:22+08:00

This mini review explores the intersection of psycholinguistic research and critical discourse studies, focusing on racial representations intertwined with psycholinguistic variables in shaping discourse perceivers' perceptions. It addresses recent literature on the various psycholinguistic variables that influence discourse perceivers in discourse processing. This review has investigated recent developments regarding racial representations intertwined with these psycholinguistic variables that influence discourse perceivers from Critical Discourse Analysis (CDA). The findings reveal that most existing studies have concentrated on social media, news, and political discourse while overlooking other types of discourse, such as narrative discourse in novels. These studies emphasize psycholinguistic variables to evoke cognitive and emotional responses in discourse perceivers, such as threatening noun-based expressions, violent verb-based expressions, categorized adjectives, animalizing/militarizing metaphors, binary-related pronouns, and exaggerated quantifier-based expressions. Meanwhile, among the existing studies, it has been discovered that a meager number of studies on the recontextualization of racial representation and its influences of relevant psycholinguistic variables on discourse perceivers. In terms of research focus, the limited recontextualization studies have only focused on the representation of migrants and refugees in Poland and Islamic representation in Italy, while little attention has been paid to other marginalized racial groups. Methodologically, this review also highlights a methodological gap, as much of the existing research relies on traditional CDA frameworks, such as the Discourse-Historical Approach (DHA), and a multi-step model of discursive shifts, while overlooking more eclectic and synergistic approaches. Furthermore, this review critiques the limitations of recontextualization as an analytical approach, followed by final remarks and suggestions for future directions.