Haneieh Honarmand, Mortaza Bonyadi, Mohammad Barzegar
Progressive Myoclonic Epilepsies (PMEs) are a rare and heterogeneous group of epileptic disorders often with progressive neurologic deterioration. The intensity of the clinical features varies depending on the underlying genetic etiology. This study aims to identify the genetic mutation associated with PME in a family belonging to the Iranian-Azeri-Turkish ethnic population. A 5-year-old boy and his 8-year-old sister, presenting with PME-related electroclinical features such as myoclonic seizures and progressive cognitive and motor decline, underwent comprehensive clinical evaluations, including pedigree analysis, laboratory tests, and EEG assessments, followed by Whole-Exome Sequencing (WES) to identify potential disease-causing mutations. We identified a novel homozygous mutation (c.14C > T) in the KCTD7 gene in both siblings, confirmed through Sanger sequencing. This mutation was not observed in a cohort of 430 healthy individuals from the same Iranian-Azeri-Turkish ethnic background, providing strong evidence for its pathogenic role. This finding advances our understanding of the genetic basis and phenotypic diversity of PMEs, but further research is needed to elucidate how KCTD7 mutations contribute to epilepsy and neurodegeneration.
Neurology. Diseases of the nervous system, Neurophysiology and neuropsychology
Aminu Imam, Oluwadamilola Eunice Ajibola, Aalimah Akinosho Akorede
et al.
Abstract Background Epilepsy is characterized by recurrent seizures and neurological consequences, which may be associated with impaired myelin and glial integrity, and exacerbated by environmental neurotoxicants. Environmental neurotoxicants, such as Cypermethrin (CPM), may heighten these impairments, worsening seizure outcomes. This study investigates the effects of Cypermethrin (CPM) on Pentylenetetrazole (PTZ)-induced seizures and the Vitamin E (Vit E) and valproate (VAP) co-interventions on myelin and glial integrity. Methods Histochemical and immunohistochemical analyses for hematoxylin and eosin (H&E), myelin basic protein (MBP), ionized calcium-binding adaptor molecule 1 (IBA1), glial fibrillary acidic protein (GFAP), and oligodendrocyte transcription factor 2 (OLIG-2) were conducted on cerebral white matter and corpus callosum tissues. The density of stained cells and immunoreactivity obtained with ImageJ was subjected to one-way analysis of variance. Results Immunohistochemistry revealed that cypermethrin exposure in PTZ-induced seizure rats led to marked neuronal, oligodendroglial, and myelin loss, accompanied by substantial glial activation in both cerebral white matter and corpus callosum. Interventional ingestions of VAP and Vit E, especially when combined, substantially reduced both microglial activation and reactive astrogliosis, thereby consequently preventing oligodendrocyte and neuronal loss, thus preserving both cerebral white matter and callosal myelin. Conclusions These findings highlight the potential of pyrethroid insecticides to exacerbate the neurological consequences of epilepsy, specifically causing myelin damage via glial activation. Also, the putative therapeutic synergy of antioxidant supplementation in epilepsy and neurotoxicity management was obvious.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurophysiology and neuropsychology
Alia M.R. Fallatah, Hanan M. Abdulmutali, Majed H. Alhameed
Glutamic acid decarboxylase-65 (GAD65) is an enzyme responsible for the production of gamma-aminobutyric acid (GABA). Elevated levels of GAD65 antibodies have been recognized as a key biomarker of neurological autoimmune disorders, particularly autoimmune-associated epilepsy (AAE). We report the case of a 48-year-old woman with drug-resistant right temporal AAE, who initially developed seizures following a febrile illness accompanied by confusion. Notably, the patient exhibited rare ictal semiology involving stereotypical Ictal Hand kissing (IHK) behavior. Brain MRI revealed bilateral mesial temporal sclerosis (MTS), which was more pronounced on the right side. High serum titers of GAD65 antibodies further supported this diagnosis. This case underscores the incompletely elucidated clinical features of GAD65-positive AAE, and highlights the unique semiology of IHK behavior and its role in understanding and characterizing possible underlying epileptogenic networks.
Neurology. Diseases of the nervous system, Neurophysiology and neuropsychology
İbrahim Öztürk, Henriette Wallén Warner, Türker Özkan
The acceptance of automated vehicles and advanced vehicle technologies by users is subject to different human factors variables. Personality, technology adoption, and prior previous knowledge about the systems have been significant determinants of people’s attitudes toward new technologies across different settings. The present study examined the effects of technology adoption, knowledge of vehicle automation, and personality on the preferred level of vehicle automation in Türkiye and Sweden. The study was conducted with 297 drivers from Türkiye (age: M = 22.47, SD = 2.83) and 332 drivers from Sweden (age: M = 30.06, SD = 10.48). Participants completed a questionnaire regarding technology adoption, knowledge and preference of vehicle automation, and the Basic Personality Traits Inventory (BPTI). The findings indicated that high technology adoption was associated with preferring higher levels of automation. Furthermore, drivers from Türkiye, in comparison to drivers from Sweden, and drivers with previous knowledge of high or full automation, compared to those who have not heard of these systems in the two countries, expressed a preference toward higher levels of automation. High extraversion and openness to change were associated with high technology adoption, leading to preferring vehicles with higher levels of automation. Overall, the results indicated that drivers’ knowledge of automated vehicles and general traits, such as personality and technology adoption, play a role in vehicle preference. The study analyzed the factors that affect user acceptance of automated vehicles and offered insights into their interrelationships across two countries with differing levels of road safety.
Satvir Saggi, Joseph H. Garcia, Faraz Behzadi
et al.
Posterior quadrant epilepsy surgery, involving the occipital lobe, parietal lobe, or the posterior border of the temporal lobe, accounts for a small percentage of focal resections for medically refractory epilepsy. Prior studies investigating seizure control from posterior quadrant epilepsy surgery are limited. In this study, a retrospective database of patients undergoing surgery for left sided posterior cortex epilepsy at a single large level 4 epilepsy center was analyzed between August 2008 to April 2021 in order to characterize seizure control outcomes. Nine patients presented with epileptogenic foci in the left posterior cortex with a malformation of cortical development deemed as the etiology of seizures for all but one patient. Absolute seizure freedom (Engel I) was achieved in 4 of 9 patients, with the remaining 5 patients achieving an improvement in the frequency of seizures (Engel II/III). Complete resection of the anatomic and physiologic abnormalities was performed in 3 of 4 patients with Engel 1 outcomes and 1 of 5 patients with Class II/III outcomes. Five patients developed new right sided visual field defects, all of which were expected based on the sub-lobar, occipital localization and were viewed as acceptable by the patients and did not interfere with activities of daily living. Overall, our study demonstrates the potential for surgical resection to yield excellent seizure-control outcomes with anticipated, tolerable neurological deficits. This information is important for patients with disabling seizures who may not benefit sufficiently from palliative procedures.
Neurology. Diseases of the nervous system, Neurophysiology and neuropsychology
Carlos Cristi-Montero, Heidi Johansen-Berg, Piergiorgio Salvan
Health-related behaviours have been related to brain structural features. In developing settings, such as Latin America, high social inequality has been inversely associated with several health-related behaviours affecting brain development. Understanding the relationship between health behaviours and brain structure in such settings is particularly important during adolescence when critical habits are acquired and ingrained. In this cross-sectional study, we carry out a multimodal analysis identifying a brain region associated with health-related behaviours (i.e., adiposity, fitness, sleep problems and others) and cognitive/academic performance, independent of socioeconomic status in a large sample of Chilean adolescents. Our findings suggest that the relationship between health behaviours and cognitive/academic performance involves a particular brain phenotype that could play a mediator role. These findings fill a significant gap in the literature, which has largely focused on developed countries and raise the possibility of promoting healthy behaviours in adolescence as a means to influence brain structure and thereby cognitive/academic achievement, independently of socioeconomic factors. By highlighting the potential impact on brain structure and cognitive/academic achievement, policymakers could design interventions that are more effective in reducing health disparities in developing countries.
Reut Gruber,1,2 Liron Salamon,3 Riva Tauman,4 Michal Al-Yagon3 1Department of Psychiatry, McGill University, Montreal, QC, Canada; 2Attention, Behaviour and Sleep Lab, Douglas Mental Health University Institute, Montreal, QC, Canada; 3Department of School Counseling and Special Education, Tel-Aviv University, Tel-Aviv, Israel; 4Sleep Disorders Center, Tel Aviv Souraski Medical Center, Tel Aviv, IsraelCorrespondence: Reut Gruber, Department of Psychiatry, McGill University, Montreal, QC, Canada, Email Reut.Gruber@Douglas.Mcgill.CaIntroduction: Delayed sleep phase syndrome (DSPS) and insomnia disorders are prevalent in adolescents and are comorbid with attention-deficit/hyperactivity disorder (ADHD), but only limited information is available regarding the prevalence of DSPS and insomnia in adolescents with ADHD. Moreover, previous studies comparing objective sleep parameters averaged the findings across all participants of each group (ADHD, control) regardless of each individual’s level of reported sleep disturbance. This might have resulted in inconsistency between information obtained by objective and subjective sleep measures in adolescents with ADHD. The objectives of the present study were 1) to compare the prevalence of risk for DSPS and insomnia in adolescents with ADHD and control adolescents in our samples; 2) to compare objectively measured sleep characteristics of adolescents with ADHD and controls while taking into consideration their levels of risk for DSPS or their level of insomnia; and 3) to compare the ADHD symptom levels of adolescents with moderate/high and low risk for DSPS or insomnia.Methods: Seventy-three adolescents (37 ADHD, 36 controls) aged 12– 15 years participated in a cross-sectional study. Actigraphy was used to characterize objective sleep parameters and parents’ or adolescents’ reports were used to characterize subjective sleep parameters.Results: Of the participants in the ADHD and control groups, 33.33% and 27%, respectively, had moderate/high levels of risk for DSPS. Adolescents in the high-risk group for DSPS had an objectively measured delayed sleep schedule and more variable sleep duration, time in bed, and sleep efficiency compared to adolescents in the low-risk group for DSPS, regardless of their ADHD diagnosis. Adolescents with higher levels of insomnia spent more time in bed and had more variable sleep efficiency compared to adolescents with no insomnia, regardless of their diagnosis.Conclusion: The prevalence of moderate/high risk for DSPS was similarly high in adolescents with ADHD and controls. Participants’ subjective reports of sleep disturbances were consistent with their objective sleep parameters when the type and level of subjectively defined sleep disturbance were considered. ADHD symptom levels were not different in adolescents with moderate/high or low risk for DSPS or insomnia.Keywords: delayed sleep phase, insomnia, subjective sleep measures, actigraphy
Marina Katsari, G. Angelopoulou, N. Laskaris
et al.
Despite the relative scarcity of studies focusing on pharmacotherapy in aphasia, there is evidence in the literature indicating that remediation of language disorders via pharmaceutical agents could be a promising aphasia treatment option. Among the various agents used to treat chronic aphasic deficits, cholinergic drugs have provided meaningful results. In the current review, we focused on published reports investigating the impact of acetylcholine on language and other cognitive disturbances. It has been suggested that acetylcholine plays an important role in neuroplasticity and is related to several aspects of cognition, such as memory and attention. Moreover, cholinergic input is diffused to a wide network of cortical areas, which have been associated with language sub-processes. This could be a possible explanation for the positive reported outcomes of cholinergic drugs in aphasia recovery, and specifically in distinct language processes, such as naming and comprehension, as well as overall communication competence. However, evidence with regard to functional alterations in specific brain areas after pharmacotherapy is rather limited. Finally, despite the positive results derived from the relevant studies, cholinergic pharmacotherapy treatment in post-stroke aphasia has not been widely implemented. The present review aims to provide an overview of the existing literature in the common neuroanatomical substrate of cholinergic pathways and language related brain areas as a framework for interpreting the efficacy of cholinergic pharmacotherapy interventions in post-stroke aphasia, following an integrated approach by converging evidence from neuroanatomy, neurophysiology, and neuropsychology.
Obsessive-compulsive disorder (OCD) is a chronic and debilitating mental disorder that affects patients throughout their lives, leading to a diminished quality of life for patients and families, reduced productivity, and higher health care costs. It is of clinical and theoretical importance to investigate a more efficacious therapeutic approach for OCD and the neurophysiological mechanism underlying the efficacy of treatment, potentially associated with the etiology of OCD. Recently, a novel psychotherapy designated cognitive-coping therapy (CCT) has been reported to have a large effect size in OCD treatment. CCT hypothesizes that fear of negative events plays a crucial role in OCD. The study entitled “Decreased left amygdala functional connectivity by cognitive-coping therapy in obsessive-compulsive disorder” attempted to investigate the potential neurophysiological mechanism underlying the efficacy of CCT for OCD. The study provides crystal evidence showing that 4-week pharmacotherapy plus CCT decreases the left amygdala seed-based functional connectivity (LA-FC) with the right anterior cingulate gyrus and the left paracentral lobule/the left superior parietal/left inferior parietal, and 4-week CCT decreases the LA-FC with the left middle occipital gyrus/the left superior parietal. The alteration of the LA-FC with the right anterior cingulate gyrus positively correlates to the reduction of the Yale-Brown obsessive-compulsive scale (Y-BOCS) score. Therefore, it provides new insights into understanding the neurophysiology and neuropsychology behind the onset and treatment of OCD.
We have previously reported different spike firing correlation patterns among pairs of adjacent pyramidal neurons within the same layer of S1 cortex in vivo, which was argued to suggest that acquired synaptic weight modifications would tend to differentiate adjacent cortical neurons despite them having access to near-identical afferent inputs. Here we made simultaneous single-electrode loose patch-clamp recordings from 14 pairs of adjacent neurons in the lateral thalamus of the ketamine-xylazine anesthetized rat in vivo to study the correlation patterns in their spike firing. As the synapses on thalamic neurons are dominated by a high number of low weight cortical inputs, which would be expected to be shared for two adjacent neurons, and as far as thalamic neurons have homogenous membrane physiology and spike generation, they would be expected to have overall similar spike firing and therefore also correlation patterns. However, we find that across a variety of thalamic nuclei the correlation patterns between pairs of adjacent thalamic neurons vary widely. The findings suggest that the connectivity and cellular physiology of the thalamocortical circuitry, in contrast to what would be expected from a straightforward interpretation of corticothalamic maps and uniform intrinsic cellular neurophysiology, has been shaped by learning to the extent that each pair of thalamic neuron has a unique relationship in their spike firing activity.
Hsi-Chung Chen,1,2 Chia-Yi Wu,3– 5 Ming-Been Lee,1,5– 7 Shih-Cheng Liao,1,5,6 Chia-Ta Chan,5,7 Chun-Ying Chen5 1Department of Psychiatry, National Taiwan University Hospital, Taipei, Taiwan; 2Center of Sleep Disorders, National Taiwan University Hospital, Taipei, Taiwan; 3School of Nursing, National Taiwan University College of Medicine, Taipei, Taiwan; 4Department of Nursing, National Taiwan University Hospital, Taipei, Taiwan; 5Taiwan Suicide Prevention Center, Taipei, Taiwan; 6Department of Psychiatry, National Taiwan University College of Medicine, Taipei, Taiwan; 7Department of Psychiatry, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, TaiwanCorrespondence: Chia-Yi WuSchool of Nursing, National Taiwan University College of Medicine, No.1, Sec. 1, Jen-A1 Road, Taipei 100, TaiwanTel +886-2-23123456 ext. 88430Email jennycyw@ntu.edu.tw Ming-Been LeeDepartment of Psychiatry, National Taiwan University Hospital, No. 7, Chung-Shan S. Road, Taipei 100, TaiwanTel +886-2-23123456 Ext. 66784Email mingbeen@ntu.edu.twBackground: Insomnia is closely related to psychological distress. This study aims to examine the role of age and sex in the association between various psychological distresses and insomnia symptoms.Participants and Methods: This population-based study used data provided by cumulative respondents of the annual survey of the Taiwan Suicide Prevention Center between 2006 and 2019. Potential respondents were aged ≥ 15 years and were selected by a stratified proportional randomization method according to the distribution of population size, sex, and age in different geographic areas of Taiwan. The Five-Item Brief Symptom Rating Scale was used to measure insomnia symptoms and four psychological distresses: depression, anxiety, hostility, and inferiority. The independent relationship between insomnia symptoms with depression, anxiety, hostility, and inferiority was further examined according to age and sex.Results: A total of 28,649 participants were included (women, 50.2%). The four types of psychological distress correlated differentially with insomnia symptoms. Concerning interaction effects, sex moderated the interaction effects between age with depression, anxiety, and hostility. In men, and not in women, age moderated the relationship between insomnia symptoms and all four psychological distresses. Specifically, the effect sizes of the associations between insomnia symptoms and depression, anxiety, and hostility showed an age-dependent decreasing trend in men.Conclusion: The associations between psychological distresses and insomnia symptoms varied in strength and according to age in a sex-specific manner.Keywords: insomnia symptoms, moderation effect, psychological distress, sex-specific
The objective of the present study was to carry out a literature review on the subject of exercise neuroscience to identify which studies were produced on the exposed subject and how the objective of each study was conceived. To prepare this literature review, independent online searches for articles were carried out between January 2015 and December 2020, in the electronic databases Google Scholar, Scielo, Pubmed/Medline, Cochrane and Web of Science, using selected descriptors. randomly in line with the initial neuroscience theme of exercise. As a search strategy, the descriptors were organized according to two groups: neuroscience and exercise, exercise neuroscience, exercise neuroscience and exercise and neuroscience. The selection of articles was carried out by the researcher himself, independently and without the call of a second reviewer. Of the 98 articles found, only 03 articles fit the search, inclusion and exclusion criteria. It is concluded that although the articles address the neuroscience content involved in brain health, there is a lack of studies that address the aforementioned topic between neuroscience and exercise or exercise neuroscience. It is suggested that more robust and complex studies be carried out in order to start with filling the gaps between the brain and body in the neuroscience of exercise; associated with the benefits of neuroscience for exercise whether through neuroanatomy, neurophysiology or neuropsychology.
AbstractDevelopmental stuttering is a childhood onset neurodevelopmental disorder with an unclear etiology. Subtle changes in brain structure and function are present in both children and adults who stutter. It is a highly heritable disorder, and 12–20% of stuttering cases may carry a mutation in one of four genes involved in intracellular trafficking. To better understand the relationship between genetics and neuroanatomical changes, we used gene expression data from the Allen Institute for Brain Science and voxel-based morphometry to investigate the spatial correspondence between gene expression patterns and differences in gray matter volume between children with persistent stuttering (n = 26, and 87 scans) and their fluent peers (n = 44, and 139 scans). We found that the expression patterns of two stuttering-related genes (GNPTG and NAGPA) from the Allen Institute data exhibited a strong positive spatial correlation with the magnitude of between-group gray matter volume differences. Additional gene set enrichment analyses revealed that genes whose expression was highly correlated with the gray matter volume differences were enriched for glycolysis and oxidative metabolism in mitochondria. Because our current study did not examine the participants’ genomes, these results cannot establish the direct association between genetic mutations and gray matter volume differences in stuttering. However, our results support further study of the involvement of lysosomal enzyme targeting genes, as well as energy metabolism in stuttering. Future studies assessing variations of these genes in the participants’ genomes may lead to increased understanding of the biological mechanisms of the observed spatial relationship between gene expression and gray matter volume.
Language. Linguistic theory. Comparative grammar, Neurophysiology and neuropsychology
Abstract Background The Clinical descriptions and diagnostic guidelines for the ICD-11 Classification of mental and behavioural disorders should soon be finalized. To measure their potential impact, the new proposed definitions of bipolar disorders in ICD-11 were applied to data from the Zurich cohort study and compared with the definitions of ICD-10 and DSM-5. Results We found little difference between ICD-11 and ICD-10 in the identification of subjects with bipolar disorders, but compared to DSM-5 a considerable increase in the diagnosis of hypomanic episodes and therefore of bipolar-II disorders. Conclusions Compared to ICD-10 and DSM-5 the definition of hypomanic episodes according to ICD-11 represents important progress. A higher prevalence of BP-II disorder makes sense from a clinical point of view. Further transcultural research is needed into whether out-patient treatment should be included as a criterion for hypomania. Pure mania is unfortunately missing as an independent and codable disorder in the international diagnostic manuals, whether ICD-11 or DSM-5.
Neurosciences. Biological psychiatry. Neuropsychiatry, Neurophysiology and neuropsychology
T. Mäki-Marttunen, T. Kaufmann, T. Elvsåshagen
et al.
The brain is the most complex of human organs, and the pathophysiology underlying abnormal brain function in psychiatric disorders is largely unknown. Despite the rapid development of diagnostic tools and treatments in most areas of medicine, our understanding of mental disorders and their treatment has made limited progress during the last decades. While recent advances in genetics and neuroscience have a large potential, the complexity and multidimensionality of the brain processes hinder the discovery of disease mechanisms that would link genetic findings to clinical symptoms and behavior. This applies also to schizophrenia, for which genome-wide association studies have identified a large number of genetic risk loci, spanning hundreds of genes with diverse functionalities. Importantly, the multitude of the associated variants and their prevalence in the healthy population limit the potential of a reductionist functional genetics approach as a stand-alone solution to discover the disease pathology. In this review, we outline the key concepts of a “biophysical psychiatry,” an approach that employs large-scale mechanistic, biophysics-founded computational modelling to increase transdisciplinary understanding of the pathophysiology and strive toward robust predictions. We discuss recent scientific advances that allow a synthesis of previously disparate fields of psychiatry, neurophysiology, functional genomics, and computational modelling to tackle open questions regarding the pathophysiology of heritable mental disorders. We argue that the complexity of the increasing amount of genetic data exceeds the capabilities of classical experimental assays and requires computational approaches. Biophysical psychiatry, based on modelling diseased brain networks using existing and future knowledge of basic genetic, biochemical, and functional properties on a single neuron to a microcircuit level, may allow a leap forward in deriving interpretable biomarkers and move the field toward novel treatment options.
Fatemeh Soltanzadeh-Jazi, Parisa Nilforooshan, Mohammad Reza Abedi
et al.
Aim and Backgrounds: The aim of the current study was investigation the effectiveness of Acceptance and Commitment Therapy (ACT) on career development of students with obsessive compulsive disorder. Materials & Methods: This is a quasi-experimental study with pretest-posttest-follow up design with control group. Thirty students were selected using convenience sampling and randomly divided to two experiment and control groups. Data was gathered by Career Development Questionnaire (CDI) and was analyzed using Repeated Measure ANOVA. Students in one experimental group received ACT in eight weekly sessions and the control group were in wait list. Findings: The results showed that there was significant difference between two groups in path career development (p<0.05). Conclusion : ACT can improve path career development of students with obsessive compulsive disorder.