Search results for: mass disorder
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 4647

Search results for: mass disorder

4347 Exploration of the Possible Link Between Emotional Problems and Cholesterol Levels Among Children Diagnosed with Attention-Deficit Hyperactivity Disorder

Authors: Rosa S. Wong, Keith T.S. Tung, H.W. Tsang, Frederick K. Ho, Patrick Ip

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Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention and hyperactive-impulsive behavior. Evidence shows that ADHD and mood problems such as depression and anxiety often co-occur and yet not everyone with ADHD reported elevated emotional problems. Given that cholesterol is essential for healthy brain development including the regions governing emotion regulation, reports found lower cholesterol levels in patients with major depressive disorder and those with suicide attempt behavior compared to healthy subjects. This study explored whether ADHD adolescents experienced more emotional problems and whether emotional problems correlated with cholesterol levels in these adolescents. This study used a portion of data from the longitudinal cohort study which was designed to investigate the long-term impact of family socioeconomic status on child development. In 2018/19, parents of 300 adolescents (average age: 12.57+/-0.49 years) were asked to rate their children’s emotional problems and report whether their children had doctor-diagnosed psychiatric diseases. We further collected blood samples from 263 children to study their lipid profile (total cholesterol, high-density lipoprotein (HDL)-cholesterol, and low-density lipoprotein (LDL)-cholesterol). Regression analyses were performed to test the relationships between variables of interest. Among 300 children, 27 (9%) had ADHD diagnosis. Analysis based on overall sample found no association between ADHD and emotional problems, but when investigating the relationship by gender, there was a significant interaction effect of ADHD and gender on emotional problems (p=0.037), with ADHD males displaying more emotional problems than ADHD females. Further analyses based on 263 children (21 with ADHD diagnosis) found significant interaction effect of ADHD and gender on total cholesterol (p=0.038) and low LDL-cholesterol levels (p=0.013) after adjusting for the child’s physical disease history. Specifically, ADHD males had significantly lower total cholesterol and low lipoprotein-cholesterol levels than ADHD females. In ADHD males, more emotional problems were associated with lower LDL-cholesterol levels (B = -4.26, 95%CI (-7.46, -1.07), p=0.013). We found preliminary support for the association between more emotional problems and lower cholesterol levels in ADHD children, especially among males. Although larger prospective studies are needed to substantiate these claims, the evidence highlights the importance of healthy lifestyle to keep cholesterol levels in normal range which can have positive effects on physical and mental health.

Keywords: attention-deficit hyperactivity disorder, cholesterol, emotional problems, adolescents

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4346 A Plasmonic Mass Spectrometry Approach for Detection of Small Nutrients and Toxins

Authors: Haiyang Su, Kun Qian

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We developed a novel plasmonic matrix assisted laser desorption/ionization mass spectrometry (MALDI MS) approach to detect small nutrients and toxin in complex biological emulsion samples. We used silver nanoshells (SiO₂@Ag) with optimized structures as matrices and achieved direct analysis of ~6 nL of human breast milk without any enrichment or separation. We performed identification and quantitation of small nutrients and toxins with limit-of-detection down to 0.4 pmol (for melamine) and reaction time shortened to minutes, superior to the conventional biochemical methods currently in use. Our approach contributed to the near-future application of MALDI MS in a broad field and personalized design of plasmonic materials for real case bio-analysis.

Keywords: plasmonic materials, laser desorption/ionization, mass spectrometry, small nutrients, toxins

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4345 A Twelve-Week Intervention Programme to Improve the Gross Motor Skills of Selected Children Diagnosed with Autism Spectrum Disorder

Authors: Eileen K. Africa, Karel J. van Deventer

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Neuro-typical children develop the motor skills necessary to play, do schoolwork and interact with others. However, this is not observed in children who have learning or behavioural problems. Children with Autism Spectrum Disorder (ASD) are often referred to as clumsy because their body parts do not work well together in a sequence. Physical Activity (PA) has shown to be beneficial to the general population, therefore, providing children with ASD opportunities to take part in PA programmes, could prove to be beneficial in many ways and should be investigated. The purpose of this study was to design a specialised group intervention programme, to attempt to improve gross motor skills of selected children diagnosed with ASD between the ages of eight and 13 years. A government school for ASD learners was recruited to take part in this study, and a sample of convenience (N=7) was selected. Children in the experimental group (n=4) participated in a 12-week group intervention programme twice per week, while the control group continued with their normal daily routine. The Movement Assessment Battery for Children-Second Edition (MABC-2), was administered pre- and post-test to determine the children’s gross motor proficiency and to determine if the group intervention programme had an effect on the gross motor skills of the experimental group. Statistically significant improvements were observed in total motor skill proficiency (p < 0.05), of the experimental group. These results demonstrate the importance of gross motor skills interventions for children diagnosed with ASD. Future research should include more participants to ensure that the results can be generalised.

Keywords: autism spectrum disorder, children, gross motor skills, group intervention programme

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4344 Geological and Geotechnical Investigation of a Landslide Prone Slope Along Koraput- Rayagada Railway Track Odisha, India: A Case Study

Authors: S. P. Pradhan, Amulya Ratna Roul

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A number of landslides are occurring during the rainy season along Rayagada-Koraput Railway track for past three years. The track was constructed about 20 years ago. However, the protection measures are not able to control the recurring slope failures now. It leads to a loss to Indian Railway and its passengers ultimately leading to wastage of time and money. The slopes along Rayagada-Koraput track include both rock and soil slopes. The rock types include mainly Khondalite and Charnockite whereas soil slopes are mainly composed of laterite ranging from less weathered to highly weathered laterite. The field studies were carried out in one of the critical slope. Field study was followed by the kinematic analysis to assess the type of failure. Slake Durability test, Uniaxial Compression test, specific gravity test and triaxial test were done on rock samples to calculate and assess properties such as weathering index, unconfined compressive strength, density, cohesion, and friction angle. Following all the laboratory tests, rock mass rating was calculated. Further, from Kinematic analysis and Rock Mass Ratingbasic, Slope Mass Rating was proposed for each slope. The properties obtained were used to do the slope stability simulations using finite element method based modelling. After all the results, suitable protection measures, to prevent the loss due to slope failure, were suggested using the relation between Slope Mass Rating and protection measures.

Keywords: landslides, slope stability, rock mass rating, slope mass rating, numerical simulation

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4343 Narrative Identity Predicts Borderline Personality Disorder Features in Inpatient Adolescents up to Six Months after Admission

Authors: Majse Lind, Carla Sharp, Salome Vanwoerden

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Narrative identity is the dynamic and evolving story individuals create about their personal pasts, presents, and presumed futures. This storied sense of self develops in adolescence and is crucial for fostering a sense of self-unity and purpose in life. A growing body of work has shown that several characteristics of narrative identity are disturbed in adults suffering from borderline personality disorder (BPD). Very little research, however, has explored the stories told by adolescents with BPD features. Investigating narrative identity early in the lifespan and in relation to personality pathology is crucial; BPD is a developmental disorder with early signs appearing already in adolescence. In the current study, we examine narrative identity (focusing on themes of agency and communion) coded from self-defining memories derived from the child attachment interview in 174 inpatient adolescents (M = 15.12, SD = 1.52) at the time of admission. The adolescents’ social cognition was further assessed on the basis of their reactions to movie scenes (i.e., the MASC movie task). They also completed a trauma checklist and self-reported BPD features at three different time points (i.e., at admission, at discharge, and 6 months after admission). Preliminary results show that adolescents who told stories containing themes of agency and communion evinced better social cognition, and lower emotional abuse on the trauma checklist. In addition, adolescents who disclosed stories containing lower levels of agency and communion demonstrated more BPD symptoms at all three time points, even when controlling for the occurrence of traumatic life events. Surprisingly, social cognitive abilities were not significantly associated with BPD features. These preliminary results underscore the importance of narrative identity as an indicator, and potential cause, of incipient personality pathology. Thus, focusing on diminished themes of narrative-based agency and communion in early adolescence could be crucial in preventing the development of personality pathology over time.

Keywords: borderline personality disorder, inpatient adolescents, narrative identity, follow-ups

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4342 Evaluation of the Weight-Based and Fat-Based Indices in Relation to Basal Metabolic Rate-to-Weight Ratio

Authors: Orkide Donma, Mustafa M. Donma

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Basal metabolic rate is questioned as a risk factor for weight gain. The relations between basal metabolic rate and body composition have not been cleared yet. The impact of fat mass on basal metabolic rate is also uncertain. Within this context, indices based upon total body mass as well as total body fat mass are available. In this study, the aim is to investigate the potential clinical utility of these indices in the adult population. 287 individuals, aged from 18 to 79 years, were included into the scope of the study. Based upon body mass index values, 10 underweight, 88 normal, 88 overweight, 81 obese, and 20 morbid obese individuals participated. Anthropometric measurements including height (m), and weight (kg) were performed. Body mass index, diagnostic obesity notation model assessment index I, diagnostic obesity notation model assessment index II, basal metabolic rate-to-weight ratio were calculated. Total body fat mass (kg), fat percent (%), basal metabolic rate, metabolic age, visceral adiposity, fat mass of upper as well as lower extremities and trunk, obesity degree were measured by TANITA body composition monitor using bioelectrical impedance analysis technology. Statistical evaluations were performed by statistical package (SPSS) for Windows Version 16.0. Scatterplots of individual measurements for the parameters concerning correlations were drawn. Linear regression lines were displayed. The statistical significance degree was accepted as p < 0.05. The strong correlations between body mass index and diagnostic obesity notation model assessment index I as well as diagnostic obesity notation model assessment index II were obtained (p < 0.001). A much stronger correlation was detected between basal metabolic rate and diagnostic obesity notation model assessment index I in comparison with that calculated for basal metabolic rate and body mass index (p < 0.001). Upon consideration of the associations between basal metabolic rate-to-weight ratio and these three indices, the best association was observed between basal metabolic rate-to-weight and diagnostic obesity notation model assessment index II. In a similar manner, this index was highly correlated with fat percent (p < 0.001). Being independent of the indices, a strong correlation was found between fat percent and basal metabolic rate-to-weight ratio (p < 0.001). Visceral adiposity was much strongly correlated with metabolic age when compared to that with chronological age (p < 0.001). In conclusion, all three indices were associated with metabolic age, but not with chronological age. Diagnostic obesity notation model assessment index II values were highly correlated with body mass index values throughout all ranges starting with underweight going towards morbid obesity. This index is the best in terms of its association with basal metabolic rate-to-weight ratio, which can be interpreted as basal metabolic rate unit.

Keywords: basal metabolic rate, body mass index, children, diagnostic obesity notation model assessment index, obesity

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4341 The Development of Psychosis in Offenders and Its Relationship to Crime

Authors: Belinda Crissman

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Serious mental disorder is greatly overrepresented in prisoners compared to the general community, with consequences for prison management, recidivism and the prisoners themselves. Incarcerated individuals with psychotic disorders experience insufficient detection and treatment and higher rates of suicide in custody. However direct evidence to explain the overrepresentation of individuals with psychosis in prisons is sparse. The current study aimed to use a life course criminology perspective to answer two key questions: 1) What is the temporal relationship between psychosis and offending (does first mental health contact precede first recorded offence, or does the offending precede the mental health diagnosis)? 2) Are there key temporal points or system contacts prior to incarceration that could be identified as opportunities for early intervention? Data from the innovative Queensland Linkage project was used to link individuals with their corrections, health and relevant social service systems to answer these questions.

Keywords: mental disorder, crime, life course criminology, prevention

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4340 Self‑reported Auditory Problems Are Associated with Adverse Mental Health Outcomes and Alcohol Misuse in the UK Armed Forces

Authors: Fred N. H. Parker, Nicola T. Fear, S. A. M. Stevelink, L. Rafferty

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Purpose Auditory problems, such as hearing loss and tinnitus, have been associated with mental health problems and alcohol misuse in the UK general population and in the US Armed Forces; however, few studies have examined these associations within the UK Armed Forces. The present study examined the association between auditory problems and probable common mental disorders, post-traumatic stress disorder and alcohol misuse. Methods 5474 serving and ex-service personnel from the UK Armed Forces were examined, selected from those who responded to phase two (data collection 2007–09) and phase three (2014–16) of a military cohort study. Multivariable logistic regression was used to examine the association between auditory problems at phase two and mental health problems at phase three. Results 9.7% of participants reported ever experiencing hearing problems alone, 7.9% reported tinnitus within the last month alone, and 7.8% reported hearing problems with tinnitus. After adjustment, hearing problems with tinnitus at phase two was associated with increased odds of probable common mental disorders (AOR = 1.50, 95% CI 1.09–2.08), post-traumatic stress disorder (AOR = 2.30, 95% CI 1.41–3.76), and alcohol misuse (AOR = 1.94, 95% CI 1.28–2.96) at phase three. Tinnitus alone was associated with probable post-traumatic stress disorder (AOR = 1.80, 95% CI 1.03–3.15); however, hearing problems alone were not associated with any outcomes of interest. Conclusions The association between auditory problems and mental health problems emphasizes the importance of the prevention of auditory problems in the Armed Forces: through enhanced audiometric screening, improved hearing protection equipment, and greater levels of utilization of such equipment.

Keywords: armed forces, hearing problems, tinnitus, mental health, alcohol misuse

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4339 Design of a Virtual Reality System for Children with Developmental Coordination Disorder

Authors: Ya-Ju Ju, Li-Chen Yang, Yi-Chun Du, Rong-Ju Cherng

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Introduction: It is estimated that 5-6% of school-aged children may be diagnosed to have developmental coordination disorder (DCD). Children with DCD are characterized with motor skill difficulty which cannot be explained by any medical or intellectual reasons. Such motor difficulties limit children’s participation to sports activity, further affect their physical fitness, cardiopulmonary function and balance, and may lead to obesity. The purpose of the project was to develop an exergaming system for children with DCD aiming to improve their physical fitness, cardiopulmonary function and balance ability. Methods: This study took five steps to build up the system: system planning, tasks selection, tasks programming, system integration and usability test. The system basically adopted virtual reality technique to integrate self-developed training programs. The training programs were developed to brainstorm among team members and after literature review. The selected tasks for training in the system were a combination of fundamental movement tor skill. Results and Discussion: Based on the theory of motor development, we design the training task from easy ones to hard ones, from single tasks to dual tasks. The tasks included walking, sit to stand, jumping, kicking, weight shifting, side jumping and their combination. Preliminary study showed that the tasks presented an order of development. Further study is needed to examine its effect on motor skill and cardiovascular fitness in children with DCD.

Keywords: virtual reality, virtual reality system, developmental coordination disorder, children

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4338 Synthesis of Balanced 3-RRR Planar Parallel Manipulators

Authors: Arakelian Vigen, Geng Jing, Le Baron Jean-Paul

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The paper deals with the design of parallel manipulators with balanced inertia forces and moments. The balancing of the resultant of the inertia forces of 3-RRR planar parallel manipulators is carried out through mass redistribution and centre of mass acceleration minimization. The proposed balancing technique is achieved in two steps: at first, optimal redistribution of the masses of input links is accomplished, which ensures the similarity of the end-effector trajectory and the manipulator’s common centre of mass trajectory, then, optimal trajectory planning of the end-effector by 'bang-bang' profile is reached. In such a way, the minimization of the magnitude of the acceleration of the centre of mass of the manipulator brings about a minimization of shaking force. To minimize the resultant of the inertia moments (shaking moment), the active balancing via inertia flywheel is applied. However, in this case, the active balancing is quite different from previous applications because it provides only a partial cancellation of the shaking moment due to the incomplete balancing of shaking force.

Keywords: dynamic balancing, inertia force minimization, inertia moment minimization, 3-RRR planar parallel manipulator

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4337 Using Wearable Device with Neuron Network to Classify Severity of Sleep Disorder

Authors: Ru-Yin Yang, Chi Wu, Cheng-Yu Tsai, Yin-Tzu Lin, Wen-Te Liu

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Background: Sleep breathing disorder (SDB) is a condition demonstrated by recurrent episodes of the airway obstruction leading to intermittent hypoxia and quality fragmentation during sleep time. However, the procedures for SDB severity examination remain complicated and costly. Objective: The objective of this study is to establish a simplified examination method for SDB by the respiratory impendence pattern sensor combining the signal processing and machine learning model. Methodologies: We records heart rate variability by the electrocardiogram and respiratory pattern by impendence. After the polysomnography (PSG) been done with the diagnosis of SDB by the apnea and hypopnea index (AHI), we calculate the episodes with the absence of flow and arousal index (AI) from device record. Subjects were divided into training and testing groups. Neuron network was used to establish a prediction model to classify the severity of the SDB by the AI, episodes, and body profiles. The performance was evaluated by classification in the testing group compared with PSG. Results: In this study, we enrolled 66 subjects (Male/Female: 37/29; Age:49.9±13.2) with the diagnosis of SDB in a sleep center in Taipei city, Taiwan, from 2015 to 2016. The accuracy from the confusion matrix on the test group by NN is 71.94 %. Conclusion: Based on the models, we established a prediction model for SDB by means of the wearable sensor. With more cases incoming and training, this system may be used to rapidly and automatically screen the risk of SDB in the future.

Keywords: sleep breathing disorder, apnea and hypopnea index, body parameters, neuron network

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4336 Somatic Delusional Disorder Subsequent to Phantogeusia: A Case Report

Authors: Pedro Felgueiras, Ana Miguel, Nélson Almeida, Raquel Silva

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Objective: Through the study of a clinical case of delusional somatic disorder secondary to phantogeusia, we aim to highlight the importance of considering psychosomatic conditions in differential diagnosis, as well as to emphasize the complexity of its comprehension, treatment, and respective impact on patients’ functioning. Methods: Bearing this in mind, we conducted a critical analysis of a case series based on patient observations, clinical data, and complementary diagnostic methods, as well as a non-systematic review of the literature on the subject. Results: A 61-year-old female patient with no history of psychiatric conditions. Family psychiatric history of mood disorder (depression), with psychotic features found in her mother. Medical history of many comorbidities affecting different organ systems (endocrine, gastrointestinal, genitourinary, ophthalmological). Documented neuroticism traits of personality. The patient’s family described a persistent concern about several physical symptoms across her life, with a continuous effort to obtain explanations about any sensation out of her normal perception. Since being subjected to endoscopy in 2018, she started complaints of persistent phantogeusia (acid taste) and developed excessive thoughts, feelings, and behaviors associated with this somatic symptom. The patient was evaluated by several medical specialties, and an extensive panel of medical exams was carried out, excluding any disease. Besides all the investigation and with no evidence of disease signs, acute anxiety, time, and energy dispended to this symptom culminated in severe psychosocial impairment. The patient was admitted to a psychiatric ward for investigation and treatment of this clinical picture, leading to the diagnosis of the delusional somatic disorder. In order to exclude the acute organic etiology of this psychotic disorder, an analytic panel was carried out with no abnormal results. In the context of a psychotic clinical picture, a CT scan was performed, which revealed a right cortical vascular lesion. Neuropsychological evaluation was made, with the description of cognitive functioning being globally normative. During treatment with an antipsychotic (pimozide), a complete remission of the somatic delusion was associated with the disappearance of gustative perception disturbance. In follow-up, a relapse of gustative sensation was documented, and her thoughts and speech were dominated by concerns about multiple somatic symptoms. Conclusion: In terms of abnormal bodily sensations, the oral cavity is one of the frequent sites of delusional disorder. Patients with these gustatory perception distortions complain about unusual sensations without corresponding abnormal findings in the oral area. Its pathophysiology has not been fully elucidated yet. In terms of its comprehensive psychopathology, this case was hypothesized as a paranoid development of a delusional somatic disorder triggered by a post-invasive procedure phantogeusia (which is described as a possible side effect of an endoscopy) in a patient with an anankastic personality. This case presents interesting psychopathology, reinforcing the complexity of psychosomatic disorders in terms of their etiopathogenesis, clinical treatment, and long-term prognosis.

Keywords: psychosomatics, delusional somatic disorder, phantogeusia, paranoid development

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4335 Using an Empathy Intervention Model to Enhance Empathy and Socially Shared Regulation in Youth with Autism Spectrum Disorder

Authors: Yu-Chi Chou

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The purpose of this study was to establish a logical path of an instructional model of empathy and social regulation, providing feasibility evidence on the model implementation in students with autism spectrum disorder (ASD). This newly developed Emotional Bug-Out Bag (BoB) curriculum was designed to enhance the empathy and socially shared regulation of students with ASD. The BoB model encompassed three instructional phases of basic theory lessons (BTL), action plan practices (APP), and final theory practices (FTP) during implementation. Besides, a learning flow (teacher-directed instruction, student self-directed problem-solving, group-based task completion, group-based reflection) was infused into the progress of instructional phases to deliberately promote the social regulatory process in group-working activities. A total of 23 junior high school students with ASD were implemented with the BoB curriculum. To examine the logical path for model implementation, data was collected from the participating students’ self-report scores on the learning nodes and understanding questions. Path analysis using structural equation modeling (SEM) was utilized for analyzing scores on 10 learning nodes and 41 understanding questions through the three phases of the BoB model. Results showed (a) all participants progressed throughout the implementation of the BoB model, and (b) the models of learning nodes and phases were positive and significant as expected, confirming the hypothesized logic path of this curriculum.

Keywords: autism spectrum disorder, empathy, regulation, socially shared regulation

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4334 Life Cycle Assessment of Mass Timber Structure, Construction Process as System Boundary

Authors: Mahboobeh Hemmati, Tahar Messadi, Hongmei Gu

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Today, life cycle assessment (LCA) is a leading method in mitigating the environmental impacts emerging from the building sector. In this paper, LCA is used to quantify the Green House Gas (GHG) emissions during the construction phase of the largest mass timber residential structure in the United States, Adohi Hall. This building is a 200,000 square foot 708-bed complex located on the campus of the University of Arkansas. The energy used for buildings’ operation is the most dominant source of emissions in the building industry. Lately, however, the efforts were successful at increasing the efficiency of building operation in terms of emissions. As a result, the attention is now shifted to the embodied carbon, which is more noticeable in the building life cycle. Unfortunately, most of the studies have, however, focused on the manufacturing stage, and only a few have addressed to date the construction process. Specifically, less data is available about environmental impacts associated with the construction of mass timber. This study presents, therefore, an assessment of the environmental impact of the construction processes based on the real and newly built mass timber building mentioned above. The system boundary of this study covers modules A4 and A5 based on building LCA standard EN 15978. Module A4 includes material and equipment transportation. Module A5 covers the construction and installation process. This research evolves through 2 stages: first, to quantify materials and equipment deployed in the building, and second, to determine the embodied carbon associated with running equipment for construction materials, both transported to, and installed on, the site where the edifice is built. The Global Warming Potential (GWP) of the building is the primary metric considered in this research. The outcomes of this study bring to the front a better understanding of hotspots in terms of emission during the construction process. Moreover, the comparative analysis of the mass timber construction process with that of a theoretically similar steel building will enable an effective assessment of the environmental efficiency of mass timber.

Keywords: construction process, GWP, LCA, mass timber

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4333 Effect of Relaxation Techniques in Reducing Stress Level among Mothers of Children with Autism Spectrum Disorder

Authors: R. N. Jay A. Ablog, M. N. Dyanne R. Del Carmen, Roma Rose A. Dela Cruz, Joselle Dara M. Estrada, Luke Clifferson M. Gagarin, Florence T. Lang-ay, Ma. Dayanara O. Mariñas, Maria Christina S. Nepa, Jahraine Chyle B. Ocampo, Mark Reynie Renz V. Silva, Jenny Lyn L. Soriano, Loreal Cloe M. Suva, Jackelyn R. Torres

Abstract:

Background: To date, there is dearth of literature as to the effect of relaxation techniques in lowering the stress level of mothers of children with autism spectrum disorder (ASD). Aim: To investigate the effectiveness of 4-week relaxation techniques in stress level reduction of mothers of children with ASD. Methods: Quasi experimental design. It included 25 mothers (10-experimental, 15-control) who were chosen via purposive sampling. The mothers were recruited in the different SPED centers in Baguio City and La Trinidad and in the community. Statistics used were T-test and Related T-Test. Results: The overall weighted mean score after 4-week training is 2.3, indicating that the relaxation techniques introduced were moderately effective in lowering stress level. Statistical analysis (T-test; CV=4.51>TV=2.26) shown a significant difference in the stress level reduction of mothers in the experimental group pre and post interventions. There is also a significant difference in the stress level reduction in the control and the experimental group (Related T-test; CV=2.08 >TV=2.07). The relaxation techniques introduced were favorable, cost-effective, and easy to perform interventions to decrease stress level.

Keywords: relaxation techniques, mindful eating, progressive muscle relaxation, breathing exercise, autism spectrum disorder

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4332 Automatic Processing of Trauma-Related Visual Stimuli in Female Patients Suffering From Post-Traumatic Stress Disorder after Interpersonal Traumatization

Authors: Theresa Slump, Paula Neumeister, Katharina Feldker, Carina Y. Heitmann, Thomas Straube

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A characteristic feature of post-traumatic stress disorder (PTSD) is the automatic processing of disorder-specific stimuli that expresses itself in intrusive symptoms such as intense physical and psychological reactions to trauma-associated stimuli. That automatic processing plays an essential role in the development and maintenance of symptoms. The aim of our study was, therefore, to investigate the behavioral and neural correlates of automatic processing of trauma-related stimuli in PTSD. Although interpersonal traumatization is a form of traumatization that often occurs, it has not yet been sufficiently studied. That is why, in our study, we focused on patients suffering from interpersonal traumatization. While previous imaging studies on PTSD mainly used faces, words, or generally negative visual stimuli, our study presented complex trauma-related and neutral visual scenes. We examined 19 female subjects suffering from PTSD and examined 19 healthy women as a control group. All subjects did a geometric comparison task while lying in a functional-magnetic-resonance-imaging (fMRI) scanner. Trauma-related scenes and neutral visual scenes that were not relevant to the task were presented while the subjects were doing the task. Regarding the behavioral level, there were not any significant differences between the task performance of the two groups. Regarding the neural level, the PTSD patients showed significant hyperactivation of the hippocampus for task-irrelevant trauma-related stimuli versus neutral stimuli when compared with healthy control subjects. Connectivity analyses revealed altered connectivity between the hippocampus and other anxiety-related areas in PTSD patients, too. Overall, those findings suggest that fear-related areas are involved in PTSD patients' processing of trauma-related stimuli even if the stimuli that were used in the study were task-irrelevant.

Keywords: post-traumatic stress disorder, automatic processing, hippocampus, functional magnetic resonance imaging

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4331 Exploring the Link between Hoarding Disorder and Trauma: A Scoping Review

Authors: Murray Anderson, Galina Freed, Karli Jahn

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Trauma is increasingly recognized as an important construct that has health implications for those who struggle with various mental health issues. For those individuals who meet the criteria for a diagnosis of hoarding disorder (HD), many have experienced some form of trauma. Further, some of the therapeutic interventions for those with HD can further perpetuate or magnify the experience of trauma. Therefore, the aim of this scoping review is to identify and document the nature and extent of research evidence related to trauma as it connects with HD. This review was guided by the questions, ‘How can our understanding of the trauma cycle help us to better appreciate the experiences of individuals who hoard, and how will a trauma informed lens inform the interventions for hoarding disorder? A comprehensive literature search was performed to identify original studies that contained the words “hoarding” and “trauma.” PsychINFO”,''EBSCO host,” “CINAHL” and “PubMed” were searched between January 2005 and April 2021. Articles were screened by three reviewers. Data extracted included publication date, demographics, study design, type of analysis, and noted connections between hoarding and trauma. Of the 329 articles, all duplicates, articles on hoardings of animals, articles not in English, and those without full-text availability were removed. Five categories were found in the remaining 45 articles, including (a) traumatic and stressful life events; (b) the link between posttraumatic stress disorder, trauma, and hoarding; (c) the relationships between different comorbidities, trauma, and hoarding; (d) the lack of early emotional expression and other forms of parental deprivation; and (e) the role of attachment. Lastly, the literature explains how the links between hoarding and trauma are difficult to study due to the highly stigmatized identities with this population. The review provided strong support for the connections between the experience of trauma and HD. What is missing from the literature is the use of a trauma-informed lens to better account for the ways in which hoarding disorder is understood. Other missing pieces in the literature are the potential uses of a trauma-informed lens to enhance the therapeutic process, to understand and reduce treatment attrition, and to improve treatment outcomes. The application of a trauma informed lens could improve our understanding of effective interactions among clients, families, and communities and improve the education around hoarding-related matters. Exploring the connections between trauma and HD can improve therapeutic delivery and destigmatize the experience of dealing with clutter and hoarding concerns. This awareness can also provide health care professionals with both the language and skills to liberate them from a reductionist view on HD.

Keywords: hoarding, attachment, parental deprivation, trauma

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4330 Development of Numerical Method for Mass Transfer across the Moving Membrane with Selective Permeability: Approximation of the Membrane Shape by Level Set Method for Numerical Integral

Authors: Suguru Miyauchi, Toshiyuki Hayase

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Biological membranes have selective permeability, and the capsules or cells enclosed by the membrane show the deformation by the osmotic flow. This mass transport phenomenon is observed everywhere in a living body. For the understanding of the mass transfer in a body, it is necessary to consider the mass transfer phenomenon across the membrane as well as the deformation of the membrane by a flow. To our knowledge, in the numerical analysis, the method for mass transfer across the moving membrane has not been established due to the difficulty of the treating of the mass flux permeating through the moving membrane with selective permeability. In the existing methods for the mass transfer across the membrane, the approximate delta function is used to communicate the quantities on the interface. The methods can reproduce the permeation of the solute, but cannot reproduce the non-permeation. Moreover, the computational accuracy decreases with decreasing of the permeable coefficient of the membrane. This study aims to develop the numerical method capable of treating three-dimensional problems of mass transfer across the moving flexible membrane. One of the authors developed the numerical method with high accuracy based on the finite element method. This method can capture the discontinuity on the membrane sharply due to the consideration of the jumps in concentration and concentration gradient in the finite element discretization. The formulation of the method takes into account the membrane movement, and both permeable and non-permeable membranes can be treated. However, searching the cross points of the membrane and fluid element boundaries and splitting the fluid element into sub-elements are needed for the numerical integral. Therefore, cumbersome operation is required for a three-dimensional problem. In this paper, we proposed an improved method to avoid the search and split operations, and confirmed its effectiveness. The membrane shape was treated implicitly by introducing the level set function. As the construction of the level set function, the membrane shape in one fluid element was expressed by the shape function of the finite element method. By the numerical experiment, it was found that the shape function with third order appropriately reproduces the membrane shapes. The same level of accuracy compared with the previous method using search and split operations was achieved by using a number of sampling points of the numerical integral. The effectiveness of the method was confirmed by solving several model problems.

Keywords: finite element method, level set method, mass transfer, membrane permeability

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4329 Stability of Essential Oils in Pang-Rum by Gas Chromatography-Mass Spectrometry

Authors: K. Jarmkom, P. Eakwaropas, W. Khobjai, S. Techaeoi

Abstract:

Ancient Thai perfumed powder was used as a fragrance for clothing, food, and the body. Plant-based natural Thai perfume products are known as Pang-Rum. The objective of this study was to evaluate the stability of essential oils after six months of incubation. The chemical compositions were determined by gas chromatography-mass spectrometry (GC-MS), in terms of the qualitative composition of the isolated essential oil. The isolation of the essential oil of natural products by incubate sample for 5 min at 40 ºC is described. The volatile components were identified by percentage of total peak areas comparing their retention times of GC chromatograph with NIST mass spectral library. The results show no significant difference in the seven chromatograms of perfumed powder (Pang-Rum) both with binder and without binder. Further identification was done by GC-MS. Some components of Pang-Rum with/without binder were changed by temperature and time.

Keywords: GC-MS analysis, essential oils, stability, Pang-Rum

Procedia PDF Downloads 249
4328 Gas Condensing Unit with Inner Heat Exchanger

Authors: Dagnija Blumberga, Toms Prodanuks, Ivars Veidenbergs, Andra Blumberga

Abstract:

Gas condensing units with inner tubes heat exchangers represent third generation technology and differ from second generation heat and mass transfer units, which are fulfilled by passive filling material layer. The first one improves heat and mass transfer by increasing cooled contact surface of gas and condensate drops and film formed in inner tubes heat exchanger. This paper presents a selection of significant factors which influence the heat and mass transfer. Experimental planning is based on the research and analysis of main three independent variables; velocity of water and gas as well as density of spraying. Empirical mathematical models show that the coefficient of heat transfer is used as dependent parameter which depends on two independent variables; water and gas velocity. Empirical model is proved by the use of experimental data of two independent gas condensing units in Lithuania and Russia. Experimental data are processed by the use of heat transfer criteria-Kirpichov number. Results allow drawing the graphical nomogram for the calculation of heat and mass transfer conditions in the innovative and energy efficient gas cooling unit.

Keywords: gas condensing unit, filling, inner heat exchanger, package, spraying, tunes

Procedia PDF Downloads 277
4327 D-Epi App: Mobile Application to Control Sodium Valproat Administration in Children with Idiopatic Epilepsy in Indonesia

Authors: Nyimas Annissa Mutiara Andini

Abstract:

There are 325,000 children younger than age 15 in the U.S. have epilepsy. In Indonesia, 40% of 3,5 millions cases of epilepsy happens in children. The most common type of epilepsy, which affects 6 out of 10 people with the disorder, is called idiopathic epilepsy and which has no identifiable cause. One of the most commonly used medications in the treatment of this childhood epilepsy is sodium valproate. Administration of sodium valproat in children has a problem to fail. Nearly 60% of pediatric patients known were mildly, moderately, or severely non-adherent with therapy during the first six months of treatment. Many parents or caregiver took far less medication than prescribed, and the treatment-adherence pattern for the majority of patients was established during the first month of treatment. 42% of the patients were almost always given their medications as prescribed but 13% had very poor adherence even in the early weeks and months of treatment. About 7% of patients initially gave the medication correctly 90% of the time, but adherence dropped to around 20% within six months of starting treatment. Over the six months of observation, the total missing of administration is about four out of 14 doses in any given week. This fail can cause the epilepsy to relapse. Whereas, current reported epilepsy disorder were significantly more likely than those never diagnosed to experience depression (8% vs 2%), anxiety (17% vs 3%), attention-deficit/hyperactivity disorder (23% vs 6%), developmental delay (51% vs 3%), autism/autism spectrum disorder (16% vs 1%), and headaches (14% vs 5%) (all P< 0.05). They had a greater risk of limitation in the ability to do things (relative risk: 9.22; 95% CI: 7.56–11.24), repeating a school grade (relative risk: 2.59; CI: 1.52–4.40), and potentially having unmet medical and mental health needs. In the other side, technology can help to make our life easier. One of the technology, that we can use is a mobile application. A mobile app is a software program we can download and access directly using our phone. Indonesians are highly mobile centric. They use, on average, 6.7 applications over a 30 day period. This paper is aimed to describe an application that could help to control a sodium valproat administration in children; we call it as D-Epi app. D-Epi app is a downloadable application that can help parents or caregiver alert by a timer-related application to warn whether it is the time to administer the sodium valproat. It works not only as a standard alarm, but also inform important information about the drug and emergency stuffs to do to children with epilepsy. This application could help parents and caregiver to take care a child with epilepsy in Indonesia.

Keywords: application, children, D-Epi, epilepsy

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4326 Theoretical and Experimental Study of Iron Oxide Thin Film

Authors: Fahima Djefaflia, M. Loutfi Benkhedir

Abstract:

The aim of this work was to development and characterisation of iron oxide thin films by spray pyrolysis technique. Influences of deposition parameters pile temperature on structural and optical properties have been studied Thin films are analysed by various techniques of materials. The structural characterization of films by analysis of spectra of X-ray diffraction showed that the films prepared at T=350,400,450 are crystalline and amorphous at T=300C. For particular condition, two phases hematiteFe2O3 and magnetite Fe3O4 have been observed.The UV-Visible spectrophotometer of this films confirms that it is possible to obtain films with a transmittance of about 15-30% in the visible range. In addition, this analysis allowed us to determine the optical gap and disorder of films. We conclude that the increase in temperature is accompanied by a reduction in the optical gap with increasing in disorder. An ab initio calculation for this phase shows that the results are in good agreement with the experimental results.

Keywords: spray pyrolysis technique, iron oxide, ab initio calculation, optical properties

Procedia PDF Downloads 540
4325 The Impact of Nutrition Education Intervention in Improving the Nutritional Status of Sickle Cell Patients

Authors: Lindy Adoma Dampare, Marina Aferiba Tandoh

Abstract:

Sickle cell disease (SCD) is an inherited blood disorder that mostly affects individuals in sub-Saharan Africa. Nutritional deficiencies have been well established in SCD patients. In Ghana, studies have revealed the prevalence of malnutrition, especially amongst children with SCD and hence the need to develop an evidence-based comprehensive nutritional therapy for SCD to improve their nutritional status. The aim of the study was to develop and assess the effect of a nutrition education material on the nutritional status of SCD patients in Ghana. This was a pre-post interventional study. Patients between the ages of 2 to 60 years were recruited from the Tema General Hospital. Following a baseline nutrition knowledge (NK), beliefs, sanitary practice and dietary consumption pattern assessment, a twice-monthly nutrition education was carried out for 3 months, followed by a post-intervention assessment. Nutritional status of SCD patients was assessed using a 3-days dietary recall and anthropometric measurements. Nutrition education (NE) was given to SCD adults and caregivers of SCD children. Majority of the caregivers (69%) and SCD adult (82%) at baseline had low NK. The level of NK improved significantly in SCD adults (4.18±1.83 vs. 10.00±1.00, p<0.001) and caregivers (5.58 ± 2.25 vs.10.44± 0.846, p<0.001) after NE. Increase in NK improved dietary intake and dietary consumption pattern of SCD patients. Significant increase in weight (23.2±11.6 vs. 25.9±12.1, p=0.036) and height (118.5±21.9 vs. 123.5±22.2, p=0.011) was observed in SCD children at post intervention. Stunting (10.5% vs. 8.6%, p=0.62) and wasting (22.1% vs. 14.4%, p=0.30) reduced in SCD children after NE although not statistically significant. Reduction (18.2% vs. 9.1%) in underweight and an increase (18.2% vs. 27.3%) in overweight SCD adults was recorded at post intervention. Fat mass remained the same while high muscle mass increased (18.2% vs. 27.3%) at post intervention in SCD adult. Anaemic status of SCD patients improved at post intervention and the improvement was statistically significant amongst SCD children. Nutrition education improved the NK of SCD caregivers and adults hence, improving the dietary consumption pattern and nutrient intake of SCD patients. Overall, NE improved the nutritional status of SCD patients. This study shows the potential of nutrition education in improving the nutritional knowledge, dietary consumption pattern, dietary intake and nutritional status of SCD patients, and should be further explored.

Keywords: sickle cell disease, nutrition education, dietary intake, nutritional status

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4324 Designing Interactive Applications for Social Anxiety Scenario Stories for Children with Autism

Authors: Wen Huei Chou, Yi-Ting Chen

Abstract:

Individuals with Autism Spectrum Disorder (ASD) often struggle with social interactions and communication. It is challenging for them to understand social cues such as facial expressions, body language, and tone of voice in social settings, leading to social conflicts and misunderstandings. Over time, feelings of frustration and anxiety can make them reluctant to engage in social situations and worsen their communication barriers. This study focused on children with autism who also experience social anxiety. Through focus group interviews with parents of children with autism and occupational therapists, it explores the reasons and scenarios behind the development of social anxiety in these children. Social scenario stories and interactive applications tailored for children with autism were designed and developed. In addition, working with the educational robots, coping strategies for various emotional situations were elaborated on, and children were helped to understand their emotions.

Keywords: autism spectrum disorder, social anxiety, robot, social scenario story, interactive applications

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4323 Computational Fluid Dynamic Modeling of Mixing Enhancement by Stimulation of Ferrofluid under Magnetic Field

Authors: Neda Azimi, Masoud Rahimi, Faezeh Mohammadi

Abstract:

Computational fluid dynamics (CFD) simulation was performed to investigate the effect of ferrofluid stimulation on hydrodynamic and mass transfer characteristics of two immiscible liquid phases in a Y-micromixer. The main purpose of this work was to develop a numerical model that is able to simulate hydrodynamic of the ferrofluid flow under magnetic field and determine its effect on mass transfer characteristics. A uniform external magnetic field was applied perpendicular to the flow direction. The volume of fluid (VOF) approach was used for simulating the multiphase flow of ferrofluid and two-immiscible liquid flows. The geometric reconstruction scheme (Geo-Reconstruct) based on piecewise linear interpolation (PLIC) was used for reconstruction of the interface in the VOF approach. The mass transfer rate was defined via an equation as a function of mass concentration gradient of the transported species and added into the phase interaction panel using the user-defined function (UDF). The magnetic field was solved numerically by Fluent MHD module based on solving the magnetic induction equation method. CFD results were validated by experimental data and good agreements have been achieved, which maximum relative error for extraction efficiency was about 7.52 %. It was showed that ferrofluid actuation by a magnetic field can be considered as an efficient mixing agent for liquid-liquid two-phase mass transfer in microdevices.

Keywords: CFD modeling, hydrodynamic, micromixer, ferrofluid, mixing

Procedia PDF Downloads 178
4322 The Differences and Similarities in Neurocognitive Deficits in Mild Traumatic Brain Injury and Depression

Authors: Boris Ershov

Abstract:

Depression is the most common mood disorder experienced by patients who have sustained a traumatic brain injury (TBI) and is associated with poorer cognitive functional outcomes. However, in some cases, similar cognitive impairments can also be observed in depression. There is not enough information about the features of the cognitive deficit in patients with TBI in relation to patients with depression. TBI patients without depressive symptoms (TBInD, n25), TBI patients with depressive symptoms (TBID, n31), and 28 patients with bipolar II disorder (BP) were included in the study. There were no significant differences in participants in respect to age, handedness and educational level. The patients clinical status was determined by using Montgomery–Asberg Depression Rating Scale (MADRS). All participants completed a cognitive battery (The Brief Assessment of Cognition in Affective Disorders (BAC-A)). Additionally, the Rey–Osterrieth Complex Figure (ROCF) was used to assess visuospatial construction abilities and visual memory, as well as planning and organizational skills. Compared to BP, TBInD and TBID showed a significant impairments in visuomotor abilities, verbal and visual memory. There were no significant differences between BP and TBID groups in working memory, speed of information processing, problem solving. Interference effect (cognitive inhibition) was significantly greater in TBInD and TBID compared to BP. Memory bias towards mood-related information in BP and TBID was greater in comparison with TBInD. These results suggest that depressive symptoms are associated with impairments some executive functions in combination at decrease of speed of information processing.

Keywords: bipolar II disorder, depression, neurocognitive deficits, traumatic brain injury

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4321 Literature Review: The Efficacy of Play-Based Therapy Programs in Decreasing Core Symptoms of Autism Spectrum Disorder

Authors: Rozan El-Khateeb

Abstract:

This literature review examines the effectiveness of therapy programs that utilize play as an intervention for reducing symptoms associated with Autism Spectrum Disorder (ASD). Play-based therapy approaches provide a child-centered and developmentally appropriate framework to address the core symptoms of ASD, including social communication deficits, restricted and repetitive behaviors, and sensory sensitivities. The review explores various play-based therapy strategies and their impact on improving social skills, communication abilities, adaptive behaviors, and overall functioning in individuals with ASD. The findings suggest that play-based therapy programs hold promise as effective interventions for reducing symptoms and enhancing the quality of life for individuals with ASD. However, further research is necessary to establish standardized protocols, identify optimal dosage and duration, and evaluate long-term outcomes.

Keywords: autism, ABA, play, NET, systematic review

Procedia PDF Downloads 62
4320 Cognitive Deficits and Association with Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder in 22q11.2 Deletion Syndrome

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

Abstract:

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

Procedia PDF Downloads 134
4319 Investigating the Expression of NR1/NR2 Receptors in Boys Between 6 to 16 with ADHD Compared to a Healthy Controlled Group

Authors: Sajad Haghshenas

Abstract:

Emerging evidence from clinical, genetic, and animal model studies suggests that the N-methyl-D-aspartate (NMDA) glutamate receptors (NMDAR) may contribute to the pathophysiology and aetiology of neurological and psychiatric disorders and the patients with impaired NMDR receptors experience psychological symptoms. Therefore, we hypothesised that NMDAR receptors play a key role in the development of attention deficit hyperactivity disorder (ADHD). In this comparative analytical study, we utilized western blotting method to assay the expression levels of NMDA subunits NR1 and NR2 in the blood plasma of 50 male individuals diagnosed with ADHD in comparison to 20 healthy controls. The findings from the western blotting analysis provide support for the hypothesis that individuals with ADHD exhibit significantly lower levels of NR1/2 receptors compared to those without the disorder. Further research is needed to explore the potential causal relationship between reduced NR1/NR2 receptor levels and the development of ADHD.

Keywords: expression, glutamate receptors, NR1, NR2, ADHD

Procedia PDF Downloads 59
4318 Whole Exome Sequencing in Characterizing Mysterious Crippling Disorder in India

Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

Abstract:

Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

Procedia PDF Downloads 397