Search results for: data disorders

Authors: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

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22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

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Authors: Jennie Long, Marjorie Bock

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Although the professional literature related to Autism Spectrum Disorder (ASD) has focused on successful interventions and strategies, there is a lack of documentation regarding which of these methods and supports are most foundational and essential for classroom use. Specifically, literature does not define the core foundational interventions and strategies that would be elemental for educators to use with students with an ASD diagnosis. From the increase in prevalence of autism spectrum disorders, to the challenge students with ASD pose in classrooms, to the requirement to implement evidence-based practice, rises an enormous challenge in the field of education. Foundational interventions should be in place the first day the student enters the classroom. The nine interventions are foundational in nature and because of the dramatic increase in prevalence there is currently a need for classroom programs to provide the foundation of basic educational skills as well as the specialty skills specific to the area of ASD utilizing the most current research. This article presents nine evidence-based intervention categories for implementation with students on the spectrum.

Keywords: autism spectrum disorder, classroom, evidence-based, foundational

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Authors: Kyriacos Clerides, Panagiotis Herodotou, Constantina Polycarpou, Evagoras Xydas

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Background: Musculoskeletal disorders (MSDs) in the workplace is a very common problem in Europe which are caused by multiple risk factors. In recent years, wearable devices and exoskeletons for the workplace have been trying to address the various risk factors that are associated with strenuous tasks in the workplace. The logistics sector is a huge sector that includes warehousing, storage, and transportation. However, the task associated with logistics is not well-studied in terms of MSDs risk. This study was aimed at looking into the MSDs affecting workers of logistics companies. It compares the prevalence of MSDs among workers and evaluates multiple risk factors that contribute to the development of MSDs. Moreover, this study seeks to obtain user feedback on the adoption of exoskeletons in such a work environment. Materials and Methods: The study was conducted among workers in logistics companies in Nicosia, Cyprus, from July to September 2022. A set of standardized questionnaires was used for collecting different types of data. Results: A high proportion of logistics professionals reported MSDs in one or more other body regions, the lower back being the most commonly affected area. Working in the same position for long periods, working in awkward postures, and handling an excessive load, were found to be the most commonly reported job risk factor that contributed to the development of MSDs, in this study. A significant number of participants consider the back region as the most to be benefited from a wearable exoskeleton device. Half of the participants would like to have at least a 50% reduction in their daily effort. The most important characteristics for the adoption of exoskeleton devices were found to be how comfortable the device is and its weight. Conclusion: Lower back and posture were the highest risk factors among all logistics professionals assessed in this study. A larger scale study using quantitative analytical tools may give a more accurate estimate of MSDs, which would pave the way for making more precise recommendations to eliminate the risk factors and thereby prevent MSDs. A follow-up study using exoskeletons in the workplace should be done to assess whether they assist in MSD prevention.

Keywords: musculoskeletal disorders, occupational health, safety, occupational risk, logistic companies, workers, Cyprus, industrial exoskeletons, wearable devices

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Authors: Adriana Salgado, Sandra Castaneda, Ivan Perez

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Learning to read and write is a complex process involving several cognitive skills, contextual, and cultural environments. The basis of this development is linguistic skills, such as the ability to name and understand vocabulary, retell a story, phonological awareness, letter knowledge, among others. In children with autism spectrum disorder (ASD), one of the main concerns is related to language disorders. Nevertheless, most of the children with ASD are able to decode written information but have difficulties in reading comprehension. The research of these processes in the Spanish-speaking population is limited. However, the increasing prevalence of this diagnosis (1 in 115 children) in Mexico has implications at different levels. Educational research is an important area of interest in ASD children, such as emergent literacy. Reading and writing expand the possibilities of academic, cultural, and social information access. Taking this information into account, the objective of this research was to identify the relationship between language skills, alphabet knowledge, phonological awareness, and early reading and writing in ASD Spanish-speaking children. The method used for this research was based on tasks that were selected, adapted and in some cases designed to measure initial reading and writing, as well as language skills (naming, receptive vocabulary, and narrative skills), phonological awareness (similar phonological word pairs, beginning sound awareness and spelling) and letter knowledge, in a sample of 45 children (38 boys and 7 girls) with prior diagnosis of ASD. Descriptive analyses, as well as bivariate correlations, cluster analysis, and canonical correspondence, were obtained for the data results. Results showed that variability was large; however, it was possible to characterize the sample in low, medium, and high score groups regarding children performance. The low score group (46.7% of the sample), had a null or deficient performance in language skills and phonological awareness, some could identify up to five letters of the alphabet, showed no early reading skills but they could scribble. The middle score group was characterized by a highly variable performance in different tasks, with better language skills in receptive and naming vocabulary, some narrative, letter knowledge, and phonological awareness (beginning sound awareness) skills. The high score group, (24.4% of the sample) had the best performance in language skills in relation to the sample data, as well as in the rest of the measured skills. Finally, scores were canonically correlated between naming, receptive vocabulary, narrative, phonological awareness, letter knowledge and initial learning of reading and writing skills for the high score group and letter knowledge, naming and receptive vocabulary for the lower score group, which is consistent with previous research in typical and ASD children. In conclusion, the obtained data is consistent with previous studies. Despite large variability, it was possible to identify performance profiles and relations based on linguistic, phonological awareness, and letter knowledge skills. These skills were predictor variables of the initial development of reading and writing. The above has implications for a future program and strategies development that may benefit the acquisition of reading and writing in ASD children.

Keywords: autism, autism spectrum disorders, early literacy, emergent literacy

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Authors: Henry Venter, Murali Thyloth, Alceu Casseb

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Historically, mental and substance use disorders were not a global health priority. Since the 1993 World Development Report, the importance of the contribution of mental health and substance abuse on the relative global burden associated with disease morbidity has been recognized with 300 million people worldwide suffering from depression alone. This led to an international effort to improve the mental health of populations around the world. Despite these efforts some countries remain at the top of the list of countries with the highest rate of mental illness. Important research questions were asked: Would there be commonalities regarding mental health between these countries; would there be common factors leading to the high prevalence of mental illness; and how prepared are these countries with mental health delivery? Findings from this research can aid organizations and institutions preparing mental health service providers to focus training and preparation to address specific needs revealed by the study. Methods: Researchers decided to compare three distinctly different countries at the top of the list of countries with the highest rate of mental illness, the USA, India and Brazil, situated on three different continents with different economies and lifestyles. Data were collected using archival research methodology, reviewing records and findings of international and national health and mental health studies to subtract and compare data and findings. Results: The findings indicated that India is the most depressed country in the world, followed by the USA (and China) with Brazil in Latin America with the greatest number of depressed individuals. By 2020 roughly 20% of India, acountry of over one billion citizens, will suffer from some form of mental illnees, yet there are less than 4,000 experts available. In the USA 164.8 million people were substance abusers and an estimate of 47.6 million adults, 18 or older, had any mental illness in 2018. That means that about one in five adults in the USA experiences some form of mental illness each year, but only 41% of those affected received mental health care or services in the past year. Brazil has the greatest number of depressed individuals, in Latin America. Adults living in Sao Paulo megacity has prevalence of mental disorders at greater levels than similar surveys conducted in other areas of the world with more than one million adults with serious impairment levels. Discussion: The results show that, despite the vast socioeconomic differences between the three countries, there are correlations regarding mental health prevalence and difficulty to provide adequate services including a lack of awareness of how serious mental illness is, stigma for seeking mental illness, with comorbidity a common phenomenon, and a lack of partnership between different levels of service providers, which weakens mental health service delivery. The findings also indicate that mental health training institutions have a monumental task to prepare personnel to address the future mental health needs in each of the countries compared, which will constitute the next phase of the research.

Keywords: mental health epidemiology, mental health disorder, mental health prevalence, mental health treatment

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Authors: Nikat Parveen, M. Ananthi

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Big data is one of the emerging technology, which collects the data from various sensors and those data will be used in many fields. Data retrieval is one of the major issue where there is a need to extract the exact data as per the need. In this paper, large amount of data set is processed by using the feature selection. Feature selection helps to choose the data which are actually needed to process and execute the task. The key value is the one which helps to point out exact data available in the storage space. Here the available data is streamed and R-Center is proposed to achieve this task.

Keywords: big data, key value, feature selection, retrieval, performance

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Authors: Anastasia Schnitzer, Oliver Rehren

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Mental health has become an increasingly important topic in society in recent years, not least due to the challenges posed by the corona pandemic. Along with this, the public has become more and more aware that a lack of enlightenment and proper coping mechanisms may result in a notable risk to develop mental disorders. Yet, there are still many biases against those affected, which are further connected to issues of stigmatization and societal exclusion. One of the main strategies to combat these forms of prejudice and stigma is to induce intergroup contact. More specifically, the Intergroup Contact Theory states engaging in certain types of contact with members of marginalized groups may be an effective way to improve attitudes towards these groups. However, due to the persistent prejudice and stigmatization, affected individuals often do not dare to speak openly about their mental disorders, so that intergroup contact often goes unnoticed. As a result, many people only experience conscious contact with individuals with a mental disorder through media. As an analogy to the Intergroup Contact Theory, the Parasocial Contact Hypothesis proposes that repeatedly being exposed to positive media representations of outgroup members can lead to a reduction of negative prejudices and attitudes towards this outgroup. While there is a growing body of research on the merit of this mechanism, measurements often only consist of 'positive' or 'negative' parasocial contact conditions (or examine the valence or quality of the previous contact with the outgroup); meanwhile, more specific conditions are often neglected. The current study aims to tackle this shortcoming. By scrutinizing the potential of contemporary series as a narrative framework of high quality, we strive to elucidate more detailed aspects of beneficial parasocial contact -for the sake of reducing prejudice and stigma towards individuals with mental disorders. Thus, a two-factorial between-subject online panel study with three measurement points was conducted (N = 95). Participants were randomly assigned to one of two groups, having to watch episodes of either a series with a narrative framework of high (Quality-TV) or low quality (Continental-TV), with one-week interval in-between the episodes. Suitable series were determined with the help of a pretest. Prejudice and stigma towards people with mental disorders were measured at the beginning of the study, before and after each episode, and in a final follow-up one week after the last two episodes. Additionally, parasocial interaction (PSI), quality of contact (QoC), and transportation were measured several times. Based on these data, multivariate multilevel analyses were performed in R using the lavaan package. Latent growth models showed moderate to high increases in QoC and PSI as well as small to moderate decreases in stigma and prejudice over time. Multilevel path analysis with individual and group levels further revealed that a qualitative narrative framework leads to a higher quality of contact experience, which then leads to lower prejudice and stigma, with effects ranging from moderate to high.

Keywords: prejudice, quality of contact, parasocial contact, narrative framework

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Authors: Jose A. Diaz-Olivares, Nafise Mahdavian, Farhad Abtahi, Kaj Lindecrantz, Abdelakram Hafid, Fernando Seoane

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Despite new recommendations and guidelines for the evaluation of occupational risk assessments and their prevention, work-related musculoskeletal disorders are still one of the biggest causes of work activity disruption, productivity loss, sick leave and chronic work disability. It affects millions of workers throughout Europe, with a large-scale economic and social burden. These specific efforts have failed to produce significant results yet, probably due to the limited availability and high costs of occupational risk assessment at work, especially when the methods are complex, consume excessive resources or depend on self-evaluations and observations of poor accuracy. To overcome these limitations, a pervasive system of risk assessment tools in real time has been developed, which has the characteristics of a systematic approach, with good precision, usability and resource efficiency, essential to facilitate the prevention of musculoskeletal disorders in the long term. The system allows the combination of different wearable sensors, placed on different limbs, to be used for data collection and evaluation by a software solution, according to the needs and requirements in each individual working environment. This is done in a non-disruptive manner for both the occupational health expert and the workers. The creation of this solution allows us to attend different research activities that require, as an essential starting point, the recording of data with ergonomic value of very diverse origin, especially in real work environments. The software platform is here presented with a complimentary smart clothing system for data acquisition, comprised of a T-shirt containing inertial measurement units (IMU), a vest sensorized with textile electronics, a wireless electrocardiogram (ECG) and thoracic electrical bio-impedance (TEB) recorder and a glove sensorized with variable resistors, dependent on the angular position of the wrist. The collected data is processed in real-time through a mobile application software solution, implemented in commercially available Android-based smartphones and tablet platforms. Based on the collection of this information and its analysis, real-time risk assessment and feedback about postural improvement is possible, adapted to different contexts. The result is a tool which provides added value to ergonomists and occupational health agents, as in situ analysis of postural behavior can assist in a quantitative manner in the evaluation of work techniques and the occupational environment.

Keywords: ergonomics, mobile technologies, risk assessment, smart textiles

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Authors: Asmaa Tahiri, Mouktafi Amine

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A substantial number of traditional medical research has been put forward to managing and treating mental disorders. At the present time, to our best knowledge, it is believed that fundamental understanding of the underlying causes of the majority psychological disorders needs to be explored further to inform early diagnosis, managing symptoms and treatment. The emerging field of evolutionary psychology is a promising prospect to address the origin of mental disorders, potentially leading to more effective treatments. Schizophrenia as a topical mental disorder has been linked to the evolutionary adaptation of the human brain represented in the brain connectivity and asymmetry directly linked to humans higher brain cognition in contrast to other primates being our direct living representation of the structure and connectivity of our earliest common African ancestors. As proposed in the evolutionary psychology scientific literature the pathophysiology of schizophrenia is expressed and directly linked to altered connectivity between the Hippocampal Formation (HF) and Dorsolateral Prefrontal Cortex (DLPFC). This research paper presents the results of the use of tractography analysis using multiple open access Diffusion Weighted Imaging (DWI) datasets of healthy subjects, schizophrenia-affected subjects and primates to illustrate the relevance of the aforementioned brain regions connectivity and the underlying evolutionary changes in the human brain. Deterministic fiber tracking and streamline analysis were used to generate connectivity matrices from the DWI datasets overlaid to compute distances and highlight disconnectivity patterns in conjunction with other fiber tracking metrics; Fractional Anisotropy (FA), Mean Diffusivity (MD) and Radial Diffusivity (RD).

Keywords: tractography, evolutionary psychology, schizophrenia, brain connectivity

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Authors: Salima Bijapuri, Shweta Bhatbolan, Sejalben Patel

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Ergonomics concerns the fitting of the environment and the equipment to the worker. Ergonomic principles can be employed in different dimensions of the industrial sector. Participation of all the stakeholders is the key to the formulation of a multifaceted and comprehensive approach to lessen the burden of occupational hazards. Taking responsibility for one’s own work activities by acquiring sufficient knowledge and potential to influence the practices and outcomes is the basis of participatory ergonomics and even hastens the process to identify workplace hazards. The study was aimed to check how participatory ergonomics can be effective in the management of work-related musculoskeletal disorders. Method: A mega kitchen was identified in a twin city of Karnataka, India. Consent was taken, and the screening of workers was done using observation methods. Kitchen work was structured to include different tasks, which included preparation, cooking, distributing, and serving food, packing food to be delivered to schools, dishwashing, cleaning and maintenance of kitchen and equipment, and receiving and storing raw material. Total 100 workers attended the education session on participatory ergonomics and its role in implementing the correct ergonomic practices, thus preventing WRMSDs. Demographic details and baseline data on related musculoskeletal pain and discomfort were collected using the Nordic pain questionnaire and VAS score pre- and post-study. Monthly visits were made, and the education sessions were reiterated on each visit, thus reminding, correcting, and problem-solving of each worker. After 9 months with a total of 4 such education session, the post education data was collected. The software SPSS 20 was used to analyse the collected data. Results: The majority of them (78%), depending on the availability and feasibility, participated in the intervention workshops were arranged four times. The average age of the participants was 39 years. The percentage of female participants was 79.49%, and 20.51% of participants comprised of males. The Nordic Musculoskeletal Questionnaire (NMQ) showed that knee pain was the most commonly reported complaint (62%) from the last 12 months with a mean VAS of 6.27, followed by low back pain. Post intervention, the mean VAS Score was reduced significantly to 2.38. The comparison of pre-post scores was made using Wilcoxon matched pairs test. Upon enquiring, it was found that, the participants learned the importance of applying ergonomics at their workplace which inturn was beneficial for them to handle any problems arising at their workplace on their own with self confidence. Conclusion: The participatory ergonomics proved effective with workers of mega kitchen, and it is a feasible and practical approach. The advantage of the given study area was that it had a sophisticated and ergonomically designed workstation; thus it was the lack of education and practical knowledge to use these stations was of utmost need. There was a significant reduction in VAS scores with the implementation of changes in the working style, and the knowledge of ergonomics helped to decrease physical load and improve musculoskeletal health.

Keywords: ergonomic awareness session, mega kitchen, participatory ergonomics, work related musculoskeletal disorders

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Authors: Patricia Wahl, Dirk Bruland, Albert Lenz

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Children of mentally ill parents are a large high risk group for mental disorders which is hardly reached by preventive programs. The children inherit a heightened risk to develop a mental disorder themselves during their lifetime, but they and their parents are often rejecting to seek help. To elicit the factors determining this prevention dilemma, an explorative qualitative interview study is conducted in 25 families with mentally ill parents and yet unaffected children. Inclusion criteria are the children’s age (7 to 14 years old) and that these children live together with the affected parent. With regard to the concept of Mental Health Literacy the following research questions are leading the Qualitative Content Analysis: What are the needs of families with mentally ill parents? How can their help-seeking behaviour be described? What are their subjective illness theories? And which influences do gender, ethnicity and socio-economic status have on needs, help-seeking and illness theories? Mental Health Literacy relates to the knowledge and attitudes towards mental disorders influencing the recognition, management or prevention of these disorders. The concept seems to be an interesting starting point for our analysis with the aim to understand antecedences and processes in the families more deeply. Results of an extensive literature review serve as deductive framework for our analysis, first findings from the interviews will be available up to the time of the conference and can be presented. They hopefully will give inside in the families’ living environment and help to adapt/develop interventions and in the long term reduce health inequalities. The project at hand is part of the Health Literacy in Childhood and Adolescence (HLCA) Research Consortium financed by the German Federal Ministry of Education and Research (BMBF).

Keywords: children of mentally ill parents, help-seeking behaviour, mental health literacy, prevention dilemma

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Authors: A. Lakshya

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The main aim of this paper is to interpret physical education for children from 5 to 18 years. Schools have the ability to promote positive mental health by developing physical education, which helps to build individual growth, goal setting, decision making, helps in muscular development, self-discipline, stresses relief, leadership qualities that can arise with new skills, prosocial behavior and problem-solving skills. But mostly the children at these early ages ought to hold the disorders as heart attack, diabetes and obesity disorders may increase in large number. The data of P.E has got a very least place, where children are with feeble minds and they acquired a state of inactiveness. Globally, 81% of adolescents aged 11-18 years were insufficiently physically active in the year 2016. Adolescent girls were less active than boys, with the percentage of 85% vs. 78% as well. A recent study of California schools found that students are sedentary most of the time during PE classes, with just four minutes of every half-hour spent in vigorous physical activity. Additionally, active PE time decreases with larger class sizes. Students in classes with more than forty-five students are half as active as students in smaller class sizes. The children in adolescence age they acquire more creative ideas hence they create new hairstyles, cooking styles and dressing styles. Instead, all the children are engaging themselves to TV (television) and video games. The development of physical quality not only improves students ’ physical fitness but is also conducive to the psychological development of the students. Physical education teaching should pay more attention to the training of physical quality in the future.

Keywords: physical education, prosocial behavior, leadership, goal setting

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Authors: Dana Cassandra Winkler, Delia Leiding, Rene Bergs, Franziska Kaiser, Ramona Kirchhart, Ute Habel

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Background: Violence is a multidimensional phenomenon, affecting people of every age, socio-economic status and gender. Nevertheless, most studies primarily focus on men perpetrating women. Aim of the present study is to identify the likelihood of mental and somatic disorders and risk-taking behavior in male violence affected. In addition, the relationship between age of violence experience and the risk for health-related problems was analyzed. Method: On the basis of current evidence, a questionnaire was developed focusing on demographic background, health status, risk-taking behavior, and active and passive violence exposure. In total, 5221 males (Mean: 56,1 years, SD: 17,6) were consulted. To account for the time of violence experience in an efficient way, age clusters ‘0-12 years’, ‘13-20 years’, ‘21-35 years’, ‘36-65 years’ and ‘over 65 years’ were defined. A binary logistic regression was calculated to reveal differences in violence-affected and non-violence affected males regarding health and risk-taking factors. Males who experienced violence on a daily/ almost daily basis vs. males who reported violence occurrence once/ several times a month/ year were compared with respect to health factors and risk-taking behavior. Data of males, who indicated active and passive violence exposure, were analyzed by a chi²-analysis, to investigate a possible relation between the age of victimization and violence perpetration. Findings: Results imply that general violence experience, independent of active and passive violence exposure increases the likelihood in favor of somatic-, psychosomatic- and mental disorders as well as risk-taking behavior in males. Experiencing violence on a daily or almost daily basis in childhood and adolescence may serve as a predictor for increased health problems and risk-taking behavior. Furthermore, the violence experience and perpetration occur significantly within the same age cluster. This underlines the importance of a near-term intervention to minimize the risk, that victims become perpetrators later. Conclusion: The present study reveals predictors concerning health risk factors as well as risk-taking behavior in males with violence exposure. The results of this study may underscore the benefit of intervention and regular health care approaches in violence-affected males and underline the importance of acknowledging the overlap of violence experience and perpetration for further research.

Keywords: health disease, male, mental health, prevalence, risk-taking behavior, violence

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Authors: G. Anjan Babu, G. Sumana, M. Rajasekhar

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Many inherited diseases and non-hereditary disorders are common in the development of renal cystic diseases. Polycystic kidney disease (PKD) is a disorder developed within the kidneys in which grouping of cysts filled with water like fluid. PKD is responsible for 5-10% of end-stage renal failure treated by dialysis or transplantation. New experimental models, application of molecular biology techniques have provided new insights into the pathogenesis of PKD. Researchers are showing keen interest for developing an automated system by applying computer aided techniques for the diagnosis of diseases. In this paper a multi-layered feed forward neural network with one hidden layer is constructed, trained and tested by applying back propagation learning rule for the diagnosis of PKD based on physical symptoms and test results of urinanalysis collected from the individual patients. The data collected from 50 patients are used to train and test the network. Among these samples, 75% of the data used for training and remaining 25% of the data are used for testing purpose. Furthermore, this trained network is used to implement for new samples. The output results in normality and abnormality of the patient.

Keywords: dialysis, hereditary, transplantation, polycystic, pathogenesis

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Authors: Peggy M. Randon, Lisa Randon

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Introduction: The post-COVID-19 era has presented unique challenges for addressing complex mental health issues, particularly due to exacerbated stress, increased social isolation, and disrupted continuity of care. This article outlines relevant health disparities and policy implications within the context of the United States while maintaining international relevance. Methods: A comprehensive literature review (including studies, reports, and policy documents) was conducted to examine concerns related to childhood-onset schizophrenia and the impact on patients and their families. Qualitative and quantitative data were synthesized to provide insights into the complex etiology of schizophrenia, the effects of the pandemic, and the challenges faced by socioeconomically disadvantaged populations. Case studies were employed to illustrate real-world examples and areas requiring policy reform. Results: Early intervention in childhood is crucial for preventing or mitigating the long-term impact of complex psychotic disorders, particularly schizophrenia. A comprehensive understanding of the genetic, environmental, and physiological factors contributing to the development of schizophrenia is essential. The COVID-19 pandemic worsened symptoms and disrupted treatment for many adolescent patients with schizophrenia, emphasizing the need for adaptive interventions and the utilization of virtual platforms. Health disparities, including stigma, financial constraints, and language or cultural barriers, further limit access to care, especially for socioeconomically disadvantaged populations. Policy implications: Current US health policies inadequately support patients with schizophrenia. The limited availability of longitudinal care, insufficient resources for families, and stigmatization represent ongoing policy challenges. Addressing these issues necessitates increased research funding, improved access to affordable treatment plans, and cultural competency training for healthcare providers. Public awareness campaigns are crucial to promote knowledge, awareness, and acceptance of mental health disorders. Conclusion: The unique challenges faced by children and families in the US affected by schizophrenia and other psychotic disorders have yet to be adequately addressed on institutional and systemic levels. The relevance of findings to an international audience is emphasized by examining the complex factors contributing to the onset of psychotic disorders and their global policy implications. The broad impact of the COVID-19 pandemic on mental health underscores the need for adaptive interventions and global responses. Addressing policy challenges, improving access to care, and reducing the stigma associated with mental health disorders are crucial steps toward enhancing the lives of adolescents and young adults with schizophrenia and their family members. The implementation of virtual platforms can help overcome barriers and ensure equitable access to support and resources for all patients, enabling them to lead healthy and fulfilling lives.

Keywords: childhood, schizophrenia, policy, United, States, health, disparities

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Authors: P. Ayawei, A. D. Spiff

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It is certain that most African diasporans have experienced several types of traumas, which have conjured unprecedented psychological disorders needing adequate psychomorphological psychometrics. However, slavery was a long-term, multidimensional experience involving black victimization as well as effective black coping. In assessing, collecting, and analyzing the needed data, we first identify a group that has experienced a jolting, unpredictable, and monstrous assault. Second, we assess the depth of the trauma and an unambiguous period that marks the termination of the trauma using the alliterational psychomorphological psychometrics deca perimeter.

Keywords: slavery, Diaspora, Africa, psychomorphology, psychometrics, ancestry, disorder, phobias and trauma

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Authors: Melih Cattik

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The present study investigate effectiveness of video modeling procedures on request an item behavior of children with ASD. Two male and a female children with ASD participated in the study. A multiple baseline across participant single-subject design was used to evaluate the effects of the video modeling procedures on request an item behavior. During baseline, no prompts were presented to participants. In the intervention phase, the teacher gave video model to the participant and than created opportunity for request an item to him/her. When the first participant reached to criterion, the second participant began intervention. This procedure continued till all participants completed intervention. Finally, all three participants learned to request an item behavior. Based upon findings of this study, it will make suggestions to future researches.

Keywords: autism spectrum disorders, video modeling procedures, request an item behavior, single subject design

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Authors: Modi Alsubaie, Chris Dickens, Barnaby Dunn, Andy Gibson, Obioha Ukoumunned, Alison Evans, Rachael Vicary, Manish Gandhi, Willem Kuyken

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Background: Depression co-occurs in 20% of people with cardiovascular disorders, can persist for years and predicts worse physical health outcomes. While psychosocial treatments have been shown to effectively treat acute depression in those with comorbid cardiovascular disorders, to date there has been no evaluation of approaches aiming to prevent relapse and treat residual depression symptoms in this group. Therefore, the current study aimed to examine the feasibility and acceptability of a randomised controlled trial design evaluating an adapted version of mindfulness-based cognitive therapy (MBCT) designed specifically for people with co-morbid depression and cardiovascular disorders. Methods: A 3-arm feasibility randomised controlled trial was conducted, comparing MBCT adapted for people with cardiovascular disorders plus treatment as usual (TAU), mindfulness-based stress reduction (MBSR) plus TAU, and TAU alone. Participants completed a set of self-report measures of depression severity, anxiety, quality of life, illness perceptions, mindfulness, self-compassion and affect and had their blood pressure taken immediately before, immediately after, and three months following the intervention. Those in the adapted-MBCT arm additionally underwent a qualitative interview to gather their views about the adapted intervention. Results: 3400 potentially eligible participants were approached when attending an outpatient appointment at a cardiology clinic or via a GP letter following a case note search. 242 (7.1%) were interested in taking part, 59 (1.7%) were screened as being suitable, and 33 (<1%) were eventually randomised to the three groups. The sample was heterogeneous in terms of whether they reported current depression or had a history of depression and the time since the onset of cardiovascular disease (one to 25 years). Of 11 participants randomised to adapted MBCT seven completed the full course, levels of home mindfulness practice were high, and positive qualitative feedback about the intervention was given. Twenty-nine out of 33 participants randomised completed all the assessment measures at all three-time points. With regards to the primary outcome (depression), five out of the seven people who completed the adapted MBCT and three out of five under MBSR showed significant clinical change, while in TAU no one showed any clinical change at the three-month follow-up. Conclusions: The adapted MBCT intervention was feasible and acceptable to participants. However, aspects of the trial design were not feasible. In particular, low recruitment rates were achieved, and there was a high withdrawal rate between screening and randomisation. Moreover, the heterogeneity in the sample was high meaning the adapted intervention was unlikely to be well tailored to all participants needs. This suggests that if the decision is made to move to a definitive trial, study recruitment procedures will need to be revised to more successfully recruit a target sample that optimally matches the adapted intervention.

Keywords: mindfulness-based cognitive therapy (MBCT), depression, cardiovascular disorders, feasibility, acceptability

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Authors: John Toussaint

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Objective: Our society is suffering from an epidemic of body image dissatisfaction, and related disorders appear to be increasing globally for children. There is much to indicate that children's body image and eating attitudes are being affected negatively by socio-cultural factors such as parents, peers and media. Most studies and theories, however, have focused extensively on the daughter-mother relationship. Very few studies have investigated the role of attachment to the father as an important factor in the development of girls’ and women’s attitudes towards themselves and their bodies. Recently, data have shown that the father’s parenting style, as well as the quality of the relationship with him is crucial for the understanding of the development and persistence of body image disorders. This presentation is based on samples of participants with self-defined body image dissatisfaction, and the self-reported measures of their fathers’ parental behaviours, emotional warmth, support, or protection. Attachment theory does offer support in exploring these relationships and it is used in this presentation to assist in understanding the relationship between the father and his daughter in relation to body image and mental health. Clinical implications are also offered in respect to work with body image, eating disorders and relational therapy. Methods: As awareness of the increasing frequency of body image concerns in children grows, so too does the need for a simple, valid and reliable measure of body image. The Children's Body Image Scale (CBIS) designed in Australia, depicts seven male and females figures from which children are to choose their perceived body type and ideal body type. This was compared with a range of international body mass index (BMI) reference standards. These measures together with individual one-on-one interviews were completed by 158 children aged 7-12 years. Results: A high frequency of body image dissatisfaction was indicated in the children's responses. 55% of girls and 41% of boys said they would like to be thinner, and wished for an ideal BMI figure below the 10th percentile. This is an unhealthy and unattainable level of body fatness for the majority of children when considered in relation to the reported secular trend of their increasing average body size. Thin children were generally ranked as best and perceived as kind, happy, academically skilled, and socially successful. Fat children were perceived as unintelligent, lazy, greedy, unpopular, and unable to play physical games. Conclusions: Body image ideals and fat stereotypes are well entrenched among children. There is much to indicate that children's body image and eating attitudes are being affected negatively by sociocultural factors such as parents, peers and media. Teachers and health professionals could promote intervention programs for children involving knowledge and acceptance of genetic influences on body type; the dangerous effects of weight loss dieting; the importance of physical activity and eating healthy; and scepticism and critical analysis of mass media messages.

Keywords: body image, father attachment, mental health, eating disorders

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Authors: Mouktafi Amine, Tahiri Asmaa

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A substantial number of traditional medical research has been put forward to managing and treating mental disorders. At the present time, to our best knowledge, it is believed that a fundamental understanding of the underlying causes of the majority of psychological disorders needs to be explored further to inform early diagnosis, managing symptoms and treatment. The emerging field of evolutionary psychology is a promising prospect to address the origin of mental disorders, potentially leading to more effective treatments. Schizophrenia as a topical mental disorder has been linked to the evolutionary adaptation of the human brain represented in the brain connectivity and asymmetry directly linked to humans' higher brain cognition in contrast to other primates being our direct living representation of the structure and connectivity of our earliest common African ancestors. As proposed in the evolutionary psychology scientific literature, the pathophysiology of schizophrenia is expressed and directly linked to altered connectivity between the Hippocampal Formation (HF) and Dorsolateral Prefrontal Cortex (DLPFC). This research paper presents the results of the use of tractography analysis using multiple open access Diffusion Weighted Imaging (DWI) datasets of healthy subjects, schizophrenia-affected subjects and primates to illustrate the relevance of the aforementioned brain regions' connectivity and the underlying evolutionary changes in the human brain. Deterministic fiber tracking and streamline analysis were used to generate connectivity matrices from the DWI datasets overlaid to compute distances and highlight disconnectivity patterns in conjunction with other fiber tracking metrics: Fractional Anisotropy (FA), Mean Diffusivity (MD) and Radial Diffusivity (RD).

Keywords: tractography, diffusion weighted imaging, schizophrenia, evolutionary psychology

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Authors: Asma AlAmri, Ahmed Hassab Errasoul

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Background & Objectives: Psychiatric disorders are common, affecting approximately one of five adults (17.6%) of the population. While most patients can be successfully treated as outpatients, admission to psychiatric wards is required during relapses or as part of crisis intervention. The first 72h of admission could be particularly critical due to increased risk of physical violence, non-medical discharge and absconding. Many patients requiring interventions such as seclusion, physical restrain, PRN psychotropic medications. This study aims to investigate the relationship between demographical, clinical and pharmacological factors in one hand and certain outcomes (physical aggression, use of PRN medications, need for seclusions and non-medical discharges) within the first 72hours of admission to acute psychiatric wards in KKUH/Riyadh Methods: All admissions to psychiatric wards over a 20 month period, between (May 2015- January 2017) were included. Data was collected on demographics, diagnosis, psychotropic medications prescription, documented physical aggression, and seclusion, self-discharge and absconding. Results: 134 males and 171 females were admitted over the study period. Mean age was 34.2 years (SD 11.96).48.9% (n=149) were single and most patients (n=198) were either unemployed or in educations. Bipolar disorder was the most frequent diagnosis recorded on admission (39.3%, n=120); followed by Schizophrenia and related disorders (34.8%; n=106). Most patients (77.4%, n= 236) received regular psychotropic medications on admission. Vis a vis, 223 patients (73%) received PRN medications. Nominal regression model revealed positive relationship between “no psychotropics prescribed on admission” and self-discharge in women but not in men. No statistically significant relationship was found between age, gender, admission diagnosis and use of regular psychotropic medications on admission and need for seclusion, time spent in seclusion, documented physical aggression and use of PRN medications. Conclusion: Contrary to what is expected, our study does not show association between gender, physical aggression and need for seclusion. This could be due to poor documentation practices by nursing staff in male ward comparing with those in the female ward. Use of PRN psychotropics in the first 72 hours of admission was quite high possibly leading to a “ceiling effect”. A limitation of this study is the retrospective data collection.

Keywords: discharge against medical advice, physical aggression, psychotropics, seclusion

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Authors: Joanna Estkowska

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The Sensory Integration Method is aimed primarily at children with learning disabilities. It can also be used as a complementary method in treatment of children with cerebral palsy, autistic, mentally handicapped, blind and deaf. Autism is holistic development disorder that manifests itself in the specific functioning of a child. The most characteristic are: disorders in communication, difficulties in social relations, rigid patterns of behavior and impairment in sensory processing. In addition to these disorders may occur abnormal intellectual development, attention deficit disorders, perceptual disorders and others. This study was focused on the application sensory integration techniques in science education of autistic students. The lack of proper sensory integration causes problems with complicated processes such as motor coordination, movement planning, visual or auditory perception, speech, writing, reading or counting. Good functioning and cooperation of proprioceptive, tactile and vestibular sense affect the child’s mastery of skills that require coordination of both sides of the body and synchronization of the cerebral hemispheres. These include, for example, all sports activities, precise manual skills such writing, as well as, reading and counting skills. All this takes place in stages. Achieving skills from the first stage determines the development of fitness from the next level. Any deficit in the scope of the first three stages can affect the development of new skills. This ultimately reflects on the achievements at school and in further professional and personal life. After careful analysis symptoms from the emotional and social spheres appear to be secondary to deficits of sensory integration. During our research, the students gained knowledge and skills in the classroom of experience by learning biology, chemistry and physics with application sensory integration techniques. Sensory integration therapy aims to teach the child an adequate response to stimuli coming to him from both the outside world and the body. Thanks to properly selected exercises, a child can improve perception and interpretation skills, motor skills, coordination of movements, attention and concentration or self-awareness, as well as social and emotional functioning.

Keywords: autism spectrum disorder, science education, sensory integration, special educational needs

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Authors: Teris Cheung, Joyce Yuen Ting Lam, Kwan Hin Fong, Yuen Shan Ho, Tim Man Ho Li, Andy Choi-Yeung Tse, Cheng-Ta Li, Calvin Pak-Wing Cheng, Roland Beisteiner

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Transcranial pulse stimulation (TPS) is a non-intrusive brain stimulation technology that has been proven effective in older adults with mild neurocognitive disorders and adults with major depressive disorder. Given these robust evidences, TPS might be an adjunct treatment options in neuropsychiatric disorders, for example, autism spectrum disorder (ASD) – which is a common neurodevelopmental disorder in children. This trial aimed to investigate the effects of TPS on right temporoparietal junction, a key node for social cognition for Autism Spectrum Disorder (ASD), and to examine the association between TPS, executive functions and social functions. Design: This trial adopted a two-armed (verum TPS group vs. sham TPS group), double-blinded, randomized, sham-controlled design. Sampling: 32 subjects aged between 12 and 17, diagnosed with ASD were recruited. All subjects were computerized randomized into either verum TPS group or the sham TPS group on a 1:1 ratio. All subjects undertook functional MRI before and after the TPS interventions. Intervention: Six 30-min TPS sessions were administered to subjects in 2 weeks’ time on alternate days assessing neural connectivity changes. Baseline measurements and post-TPS evaluation of the ASD symptoms, executive functions, and social functions were conducted. Participants were followed up at 2-weeks, at 1-month and 3-month, assessing the short-and long-term sustainability of the TPS intervention. Data analysis: Generalized Estimating Equations with repeated measures were used to analyze the group and time difference. Missing data were managed by multiple imputations. The level of significance was set at p < 0.05. To our best knowledge, this is the first study evaluating the efficacy and safety of TPS among adolescents with ASD in Hong Kong and nationwide. Results emerging from this study will develop insight on whether TPS can be used as an adjunct treatment on ASD in neuroscience and clinical psychiatry. Clinical Trial Registration: ClinicalTrials.gov, identifier: NCT05408793.

Keywords: adolescents, autism spectrum disorder, neuromodulation, rct, transcranial pulse stimulation

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Authors: Kamelia Hamza

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Background: Proton pump inhibitors (PPIs) are the most prescribed drug classes for pediatric gastroesophageal reflux disease (GERD).Many patients are treated with these drugs for atypical manifestations attributed to gastroesophageal reflux (GER), even in the absence of proved causal relationship. There is an impression of increase use of PPI's treatment for reflux in "clalit health services," the largest health organization in Israel. In the recent years, the medicine is given without restriction, it's not limited to pediatric gastroenterologists only, but pediatricians and family doctors. The objective of this study is to evaluate the hypothesis that exposure to PPIs during the first year of life is associated with an increased risk of developing late adverse diseases: pneumonia, asthma, AGE, IBD, celiac disease, allergic disorders, obesity, attention deficit hyperactivity disorders (ADHD), autism spectrum disorders (ASD). Methods: The study is a retrospective case-control cohort study based on a computerized database of Clalit Health Services (CHS). It includes 9844 children born between 2002-2018 and reported to complain of at least one of the symptoms (reflux/ spitting up, irritability, feeding difficulties, colics). The study population included the study group (n=4922) of children exposed to PPIs at any time prior to the first year of life and a control group (n=4922) child not exposed to PPIs who were matched to each case of the study group on age, race, socioeconomic status, and year of birth. The prevalence of late complications/diseases in the study group was compared with the prevalence of late complications/diseases diagnosis between 2002-2020 in the control group. Odds ratios and 95% confidence intervals were calculated by using logistic regression models. Results: We found that compared to the control group, children exposed to PPIs in the first year of life had an increased risk of developing several late complications/ disorders: pneumonia, asthma, various allergies (urticaria, allergic rhinitis, or allergic conjunctivitis) OR, inhalant allergies, and food allergies. In addition, they showed an increased risk of being diagnosed with ADHD or ASD, but children exposed to PPIs in the first year of life had decrease the risk of obesity by 17% (OR 0.825, 95%CI 0.697-0.976). Conclusions: We found significant associations between the use of PPIs during the first year of life and subsequent development of late complications/diseases such as respiratory diseases, allergy diseases, ADHD, and ASD. More studies are needed to prove causality and determine the mechanism behind the effect of PPIs and the development of late complications.

Keywords: acid suppressing medications, proton pump inhibitors, histamine 2 blocker, late complications, gastroesophageal reflux, gastroesophageal reflux disease, acute gastroenteritis, community acquired pneumonia, asthma, allergic diseases, obesity, inflammatory bowel diseases, ulcerative colitis, crohn disease, attention deficit hyperactivity disorders, autism spectrum disorders

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Authors: Yusef Karimi, Masoomeh Esmaeily, Razgar Mohammadi

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Following the events of September 11th, one of the most important concerns of governments, politicians and, researchers has been to answer the question that why does an ordinary person become fundamentalism? One of the major controversies in past researches was about as to whether a fundamentalist person is normal or abnormal. In this regard, the purpose of this research is to investigate whether a Salafi-jihadi individual is normal or abnormal. The participants included 6 Jihadi Salafism individuals who were living in the Middle East and had been purposefully selected. This research is a qualitative study which examines these people′s retrospective experience of their lives. The data were collected through collaborative observation and interview. This continued till data saturation. Unlike the introduced concepts of fundamentalist personality in the previous studies such as self-fascination, aggression, paranoid personality and psychopathic, participants in this study had no abnormal symptoms of mental disorders. Hence, in the context of recognizing the fundamentalist personality, we must seek other personality and positional variables.

Keywords: abnormal, fundamentalism, normal, personality, Salafi

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Authors: Faisal Kalota

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Big Data and analytics have gained a huge momentum in recent years. Big Data feeds into the field of Learning Analytics (LA) that may allow academic institutions to better understand the learners’ needs and proactively address them. Hence, it is important to have an understanding of Big Data and its applications. The purpose of this descriptive paper is to provide an overview of Big Data, the technologies used in Big Data, and some of the applications of Big Data in education. Additionally, it discusses some of the concerns related to Big Data and current research trends. While Big Data can provide big benefits, it is important that institutions understand their own needs, infrastructure, resources, and limitation before jumping on the Big Data bandwagon.

Keywords: big data, learning analytics, analytics, big data in education, Hadoop

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Authors: Barbara Torres Rives

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Uveitis. Non-infectious anterior uveitis is a polygenic inflammatory eye disease, and it is suggested that mediated processes by the immune system (autoimmune or not) are the main mechanisms proposed in the pathogenesis of this type of uveitis. A relationship between infectious processes, digestive disorders, and a dysbiosis of the microbiome was recently described. In addition, alterations in the immune response associated with the initiation and progression of the disease have been described. Objective: The aim of this study was to identify factors related to the immune system associated with complicated non-infectious anterior uveitis. Methods: A cross-sectional observational analytical study was carried out. The universe consisted of all patients attending the ocular inflammation service of the Cuban Institute of Ophthalmology Ramón Pando Ferrer. The sample consisted of 213 patients diagnosed with non-infectious anterior uveitis. Results: Of the 213 patients with non-infectious anterior uveitis, the development of ophthalmologic complications predominated 56.3% (p=0.0094). In patients with complications was more frequent the presence of human leukocyte antigen-B27 allele (49.2%) (p<0.0001), decreased immunoglobulin G (24.2%, p=0.0124), increased immunoglobulin A (14.2%, p=0.0024), history of recurrent sepsis (59.2%, p=0.0018), recurrent respiratory infections (44.2%, p=0.0003), digestive alterations (40%, p=0.0013) and spondyloarthropathies (30%, p=0.0314). By logistic regression, it was observed that, for each completed year, the elevated risk for developing complicated non-infectious anterior uveitis in human leukocyte antigen-B27 allele positive patients (OR: 4.22, p=0.000), Conclusions: The control of recurrent sepsis at mucosal level and immunomodulation could prevent complications in non-infectious anterior uveitis. Therefore, the microbiome becomes the target of treatment and prevention of complications in non-infectious anterior uveitis.

Keywords: non-infectious anterior uveitis, immune system disorders, recurrent mucosal infections, microbiome

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Authors: Marc Toutain, Pascale Leconte, Antoine Gauthier

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Introduction: Eating Disorders (ED), such as anorexia, bulimia, and binge eating, are psychiatric illnesses that mostly affect young people. The main symptoms concern eating (restriction, excessive food intake) and weight control behaviors (laxatives, vomiting). Psychological comorbidities (depression, executive function disorders, etc.) and problematic behaviors toward physical activity (PA) are commonly associated with ED. Acquaintances on ED risk factors are still lacking, and more community sample studies are needed to improve prevention and early detection. To our knowledge, studies are needed to specifically investigate the link between ED risk level, PA, and psychological risk factors in a community sample of adolescents. The aim of this study is to assess the relation between ED risk level, exercise (type, frequency, and motivations for engaging in exercise), and psychological factors based on the Jacobi risk factors model. We suppose that a high risk of ED will be associated with the practice of high caloric cost PA, motivations oriented to weight and shape control, and psychological disturbances. Method: An online survey destined for students has been sent to several middle schools and colleges in northwest France. This survey combined several questionnaires, the Eating Attitude Test-26 assessing ED risk; the Exercise Motivation Inventory–2 assessing motivations toward PA; the Hospital Anxiety and Depression Scale assessing anxiety and depression, the Contour Drawing Rating Scale; and the Body Esteem Scale assessing body dissatisfaction, Rosenberg Self-esteem Scale assessing self-esteem, the Exercise Dependence Scale-Revised assessing PA dependence, the Multidimensional Assessment of Interoceptive Awareness assessing interoceptive awareness and the Frost Multidimensional Perfectionism Scale assessing perfectionism. Machine learning analysis will be performed in order to constitute groups with a tree-based model clustering method, extract risk profile(s) with a bootstrap method comparison, and predict ED risk with a prediction method based on a decision tree-based model. Expected results: 1044 complete records have already been collected, and the survey will be closed at the end of May 2022. Records will be analyzed with a clustering method and a bootstrap method in order to reveal risk profile(s). Furthermore, a predictive tree decision method will be done to extract an accurate predictive model of ED risk. This analysis will confirm typical main risk factors and will give more data on presumed strong risk factors such as exercise motivations and interoceptive deficit. Furthermore, it will enlighten particular risk profiles with a strong level of proof and greatly contribute to improving the early detection of ED and contribute to a better understanding of ED risk factors.

Keywords: eating disorders, risk factors, physical activity, machine learning

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Authors: Bylhah Mugotitsa, Jim Todd, Agnes Kiragga, Jay Greenfield, Evans Omondi, Lukoye Atwoli, Reinpeter Momanyi

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The INSPIRE network aims to build an open, ethical, sustainable, and FAIR (Findable, Accessible, Interoperable, Reusable) data science platform, particularly for longitudinal mental health (MH) data. While studies have been done at the clinical and population level, there still exists limitations in data and research in LMICs, which pose a risk of underrepresentation of mental disorders. It is vital to examine the existing longitudinal MH data, focusing on how FAIR datasets are. This landscape analysis aimed to provide both overall level of evidence of availability of longitudinal datasets and degree of consistency in longitudinal studies conducted. Utilizing prompters proved instrumental in streamlining the analysis process, facilitating access, crafting code snippets, categorization, and analysis of extensive data repositories related to depression, anxiety, and psychosis in Africa. While leveraging artificial intelligence (AI), we filtered through over 18,000 scientific papers spanning from 1970 to 2023. This AI-driven approach enabled the identification of 228 longitudinal research papers meeting inclusion criteria. Quality assurance revealed 10% incorrectly identified articles and 2 duplicates, underscoring the prevalence of longitudinal MH research in South Africa, focusing on depression. From the analysis, evaluating data and metadata adherence to FAIR principles remains crucial for enhancing accessibility and quality of MH research in Africa. While AI has the potential to enhance research processes, challenges such as privacy concerns and data security risks must be addressed. Ethical and equity considerations in data sharing and reuse are also vital. There’s need for collaborative efforts across disciplinary and national boundaries to improve the Findability and Accessibility of data. Current efforts should also focus on creating integrated data resources and tools to improve Interoperability and Reusability of MH data. Practical steps for researchers include careful study planning, data preservation, machine-actionable metadata, and promoting data reuse to advance science and improve equity. Metrics and recognition should be established to incentivize adherence to FAIR principles in MH research

Keywords: longitudinal mental health research, data sharing, fair data principles, Africa, landscape analysis

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Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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