Search results for: spectrum assignment
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 1598

Search results for: spectrum assignment

1268 Damage-Based Seismic Design and Evaluation of Reinforced Concrete Bridges

Authors: Ping-Hsiung Wang, Kuo-Chun Chang

Abstract:

There has been a common trend worldwide in the seismic design and evaluation of bridges towards the performance-based method where the lateral displacement or the displacement ductility of bridge column is regarded as an important indicator for performance assessment. However, the seismic response of a bridge to an earthquake is a combined result of cyclic displacements and accumulated energy dissipation, causing damage to the bridge, and hence the lateral displacement (ductility) alone is insufficient to tell its actual seismic performance. This study aims to propose a damage-based seismic design and evaluation method for reinforced concrete bridges on the basis of the newly developed capacity-based inelastic displacement spectra. The capacity-based inelastic displacement spectra that comprise an inelastic displacement ratio spectrum and a corresponding damage state spectrum was constructed by using a series of nonlinear time history analyses and a versatile, smooth hysteresis model. The smooth model could take into account the effects of various design parameters of RC bridge columns and correlates the column’s strength deterioration with the Park and Ang’s damage index. It was proved that the damage index not only can be used to accurately predict the onset of strength deterioration, but also can be a good indicator for assessing the actual visible damage condition of column regardless of its loading history (i.e., similar damage index corresponds to similar actual damage condition for the same designed columns subjected to very different cyclic loading protocols as well as earthquake loading), providing a better insight into the seismic performance of bridges. Besides, the computed spectra show that the inelastic displacement ratio for far-field ground motions approximately conforms to the equal displacement rule when structural period is larger than around 0.8 s, but that for near-fault ground motions departs from the rule in the whole considered spectral regions. Furthermore, the near-fault ground motions would lead to significantly greater inelastic displacement ratio and damage index than far-field ground motions and most of the practical design scenarios cannot survive the considered near-fault ground motion when the strength reduction factor of bridge is not less than 5.0. Finally, the spectrum formula is presented as a function of structural period, strength reduction factor, and various column design parameters for far-field and near-fault ground motions by means of the regression analysis of the computed spectra. And based on the developed spectrum formula, a design example of a bridge is presented to illustrate the proposed damage-based seismic design and evaluation method where the damage state of the bridge is used as the performance objective.

Keywords: damage index, far-field, near-fault, reinforced concrete bridge, seismic design and evaluation

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1267 Wide Dissemination of CTX-M-Type Extended-Spectrum β-Lactamases in Korean Swine Farms

Authors: Young Ah Kim, Hyunsoo Kim, Eun-Jeong Yoon, Young Hee Seo, Kyungwon Lee

Abstract:

Extended-spectrum β-lactamase (ESBL)-producing Escherichia coli from food animals are considered as a reservoir for transmission of ESBL genes to human. The aim of this study is to assess the prevalence and molecular epidemiology of ESBL-producing E. coli colonization in pigs, farm workers, and farm environments to elucidate the transmission of multidrug-resistant clones from animal to human. Nineteen pig farms were enrolled across the country in Korea from August to December 2017. ESBL-producing E. coli isolates were detected in 190 pigs, 38 farm workers, and 112 sites of farm environments using ChromID ESBL (bioMerieux, Marcy l'Etoile, France), directly (stool or perirectal swab) or after enrichment (sewage). Antimicrobial susceptibility tests were done with disk diffusion methods and blaTEM, blaSHV, and blaCTX-M were detected with PCR and sequencing. The genomes of the four CTX-M-55-producing E. coli isolates from various sources in one farm were entirely sequenced to assess the relatedness of the strains. Whole genome sequencing (WGS) was performed with PacBio RS II system (Pacific Biosciences, Menlo Park, CA, USA). ESBL genotypes were 85 CTX-M-1 group (one CTX-M-3, 23 CTX-M-15, one CTX-M-28, 59 CTX-M-55, one CTX-M-69) and 60 CTX-M-9 group (41 CTX-M-14, one CTX-M-17, one CTX-M-27, 13 CTX-M-65, 4 CTX-M-102) in total 145 isolates. The rectal colonization rates were 53.2% (101/190) in pigs and 39.5% (15/38) in farm workers. In WGS, sequence types (STs) were determined as ST69 (E. coli PJFH115 isolate from a human carrier), ST457 (two E. coli isolates PJFE101 recovered from a fence and PJFA1104 from a pig) and ST5899 (E. coli PJFA173 isolate from the other pig). The four plasmids encoding CTX-M-55 (88,456 to 149, 674 base pair), whether it belonged to IncFIB or IncFIC-IncFIB type, shared IncF backbone furnishing the conjugal elements, suggesting of genes originated from same ancestor. In conclusion, the prevalence of ESBL-producing E. coli in swine farms was surprisingly high, and many of them shared common ESBL genotypes of clinical isolates such as CTX-M-14, 15, and 55 in Korea. It could spread by horizontal transfer between isolates from different reservoirs (human-animal-environment).

Keywords: Escherichia coli, extended-spectrum β-lactamase, prevalence, whole genome sequencing

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1266 Preliminary Findings from a Research Survey on Evolution of Software Defined Radio

Authors: M. Srilatha, R. Hemalatha, T. Sri Aditya

Abstract:

Communication of today world is dominated by wireless technology. This is mainly due to the revolutionary development of new wireless communication system generations. The evolving new generations of wireless systems are accommodating the demand through better resource management including improved transmission technologies with optimized communication devices. To keep up with the evolution of technologies, the communication systems must be designed to optimize transparent insertion of newly evolved technologies virtually at all stages of their life cycle. After the insertion of new technologies, the upgraded devices should continue the communication without squalor in quality. The concern of improving spectrum access and spectrum efficiency combined with both the introduction of Software Defined Radios (SDR) and the possibility of the software application to radios has led to an evolution of wireless radio research. The software defined radio term was coined in the 1970s to overcome the problems in the application of software to wireless radios which eliminates the requirement of hardware changes. SDR has become the prime theme of research since it eliminates the drawbacks associated with conventional wireless communication systems implementation. This paper identifies and discusses key enabling technologies and possibility of research and development in SDRs. In addition transmitter and receiver architectures of SDR are also discussed along with their feasibility for reconfigurable radio application.

Keywords: software defined radios, wireless communication, reconfigurable, reconfigurable transmitter, reconfigurable receivers, FPGA, DSP

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1265 The Confluence between Autism Spectrum Disorder and the Schizoid Personality

Authors: Murray David Schane

Abstract:

Though years of clinical encounters with patients with autism spectrum disorders and those with a schizoid personality the many defining diagnostic features shared between these conditions have been explored and current neurobiological differences have been reviewed; and, critical and different treatment strategies for each have been devised. The paper compares and contrasts the apparent similarities between autism spectrum disorders and the schizoid personality are found in these DSM descriptive categories: restricted range of social-emotional reciprocity; poor non-verbal communicative behavior in social interactions; difficulty developing and maintaining relationships; detachment from social relationships; lack of the desire for or enjoyment of close relationships; and preference for solitary activities. In this paper autism, fundamentally a communicative disorder, is revealed to present clinically as a pervasive aversive response to efforts to engage with or be engaged by others. Autists with the Asperger presentation typically have language but have difficulty understanding humor, irony, sarcasm, metaphoric speech, and even narratives about social relationships. They also tend to seek sameness, possibly to avoid problems of social interpretation. Repetitive behaviors engage many autists as a screen against ambient noise, social activity, and challenging interactions. Also in this paper, the schizoid personality is revealed as a pattern of social avoidance, self-sufficiency and apparent indifference to others as a complex psychological defense against a deep, long-abiding fear of appropriation and perverse manipulation. Neither genetic nor MRI studies have yet located the explanatory data that identifies the cause or the neurobiology of autism. Similarly, studies of the schizoid have yet to group that condition with those found in schizophrenia. Through presentations of clinical examples, the treatment of autists of the Asperger type is revealed to address the autist’s extreme social aversion which also precludes the experience of empathy. Autists will be revealed as forming social attachments but without the capacity to interact with mutual concern. Empathy will be shown be teachable and, as social avoidance relents, understanding of the meaning and signs of empathic needs that autists can recognize and acknowledge. Treatment of schizoids will be shown to revolve around joining empathically with the schizoid’s apprehensions about interpersonal, interactive proximity. Models of both autism and schizoid personality traits have yet to be replicated in animals, thereby eliminating the role of translational research in providing the kind of clues to behavioral patterns that can be related to genetic, epigenetic and neurobiological measures. But as these clinical examples will attest, treatment strategies have significant impact.

Keywords: autism spectrum, schizoid personality traits, neurobiological implications, critical diagnostic distinctions

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1264 Real-Time Radiological Monitoring of the Atmosphere Using an Autonomous Aerosol Sampler

Authors: Miroslav Hyza, Petr Rulik, Vojtech Bednar, Jan Sury

Abstract:

An early and reliable detection of an increased radioactivity level in the atmosphere is one of the key aspects of atmospheric radiological monitoring. Although the standard laboratory procedures provide detection limits as low as few µBq/m³, their major drawback is the delayed result reporting: typically a few days. This issue is the main objective of the HAMRAD project, which gave rise to a prototype of an autonomous monitoring device. It is based on the idea of sequential aerosol sampling using a carrousel sample changer combined with a gamma-ray spectrometer. In our hardware configuration, the air is drawn through a filter positioned on the carrousel so that it could be rotated into the measuring position after a preset sampling interval. Filter analysis is performed via a 50% HPGe detector inside an 8.5cm lead shielding. The spectrometer output signal is then analyzed using DSP electronics and Gamwin software with preset nuclide libraries and other analysis parameters. After the counting, the filter is placed into a storage bin with a capacity of 250 filters so that the device can run autonomously for several months depending on the preset sampling frequency. The device is connected to a central server via GPRS/GSM where the user can view monitoring data including raw spectra and technological data describing the state of the device. All operating parameters can be remotely adjusted through a simple GUI. The flow rate is continuously adjustable up to 10 m³/h. The main challenge in spectrum analysis is the natural background subtraction. As detection limits are heavily influenced by the deposited activity of radon decay products and the measurement time is fixed, there must exist an optimal sample decay time (delayed spectrum acquisition). To solve this problem, we adopted a simple procedure based on sequential spectrum acquisition and optimal partial spectral sum with respect to the detection limits for a particular radionuclide. The prototyped device proved to be able to detect atmospheric contamination at the level of mBq/m³ per an 8h sampling.

Keywords: aerosols, atmosphere, atmospheric radioactivity monitoring, autonomous sampler

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1263 Thermal Reduction of Perfect Well Identified Hexagonal Graphene Oxide Nano-Sheets for Super-Capacitor Applications

Authors: A. N. Fouda

Abstract:

A novel well identified hexagonal graphene oxide (GO) nano-sheets were synthesized using modified Hummer method. Low temperature thermal reduction at 350°C in air ambient was performed. After thermal reduction, typical few layers of thermal reduced GO (TRGO) with dimension of few hundreds nanometers were observed using high resolution transmission electron microscopy (HRTEM). GO has a lot of structure models due to variation of the preparation process. Determining the atomic structure of GO is essential for a better understanding of its fundamental properties and for realization of the future technological applications. Structural characterization was identified by x-ray diffraction (XRD), Fourier transform infra-red spectroscopy (FTIR) measurements. A comparison between exper- imental and theoretical IR spectrum were done to confirm the match between experimentally and theoretically proposed GO structure. Partial overlap of the experimental IR spectrum with the theoretical IR was confirmed. The electrochemical properties of TRGO nano-sheets as electrode materials for supercapacitors were investigated by cyclic voltammetry and electrochemical impedance spectroscopy (EIS) measurements. An enhancement in supercapacitance after reduction was confirmed and the area of the CV curve for the TRGO electrode is larger than those for the GO electrode indicating higher specific capacitance which is promising in super-capacitor applications

Keywords: hexagonal graphene oxide, thermal reduction, cyclic voltammetry

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1262 Electromyography Controlled Robotic Toys for Autistic Children

Authors: Uvais Qidwai, Mohamed Shakir

Abstract:

This paper presents an initial study related to the use of robotic toys as teaching and therapeutic aid tools for teachers and care-givers as well as parents of children with various levels of autism spectrum disorder (ASD). Some of the most common features related to the behavior of a child with ASD are his/her social isolation, living in their own world, not being physically active, and not willing to learn new things. While the teachers, parents, and all other related care-givers do their best to improve the condition of these kids, it is usually quite an uphill task. However, one remarkable observation that has been reported by several teachers dealing with ASD children is the fact that the same children do get attracted to toys with lights and sounds. Hence, this project targets the development/modifications of such existing toys into appropriate behavior training tools which the care-givers can use as they would desire. Initially, the remote control is in hand of the trainer, but after some time, the child is entrusted with the control of the robotic toy to test for the level of interest. It has been found during the course of this study that children with quite low learning activity got extremely interested in the robot and even advanced to controlling the robot with the Electromyography (EMG). It has been observed that the children did show some hesitation in the beginning 5 minutes of the very first sessions of such interaction but were very comfortable afterwards which has been considered as a very strong indicator of the potential of this technique in teaching and rehabilitation of children with ASD or similar brain disorders.

Keywords: Autism Spectrum Disorder (ASD), robotic toys, IR control, electromyography, LabVIEW based remote control

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1261 Dermatophytoses: Spectrum Evolution of Dermatophytes in Sfax, Tunisia, Between 1999 and 2019

Authors: Khemakhem Nahed, Hammami Fatma, Trabelsi Houaida, Neji Sourour, Sellami Hayet, Makni Fattouma, Turki Hamida, Ayadi Ali

Abstract:

Dermatophytoses are considered a public health problem and represent 10% of dermatological consultations in our region. Their epidemiology is influenced by various factors, such as lifestyle, human migration patterns, changes in the environment and the host relationship. The understanding of epidemiology has a major impact on their prevention and treatment. The aim of the study is to determine the prevalence pattern of aetiological agents and to describe the clinical characteristics of dermatophytoses between 1999 and 2019. Out of 65 059 subjects suspected to have superficial mycoses, 36 220 (55.67%) were affected with dermatophytoses. The mean age was 40.1 years (range: 10 days to 99 years). The sex ratio was 0.8. Our patients were from urban regions in 80.9% of cases. The most common type of infection was onychomycosis (42.64%), followed by tinea pedis (20.8%), intertrigo (18.3%), tinea corporis (8.48%) and tinea capitis (7.87%). The most isolated dermatophyte was Trichophyton rubrum (76.5%), followed by T. mentagrophytes complex (6.3%), Microsporum canis (5.8%), T. violaceum (5.3%), T. verrucosum (0.83%) and Epidermophyton floccosum (0.3%). Zoophilic agents have become more prevalent and their frequency has been increased from 6.46% in 1999 to 13% in 2019. It is interesting to note that M. canis has been on the rise since 2010 and it was the first etiological agent of tinea capitis (48%), while infections caused by T. violaceum continued to decrease from 1999 (16.2%) to 2019 (4.7%). Other dermatophytes have been rarely isolated: T. tonsurans (9 cases), T. schoenleinii (3 cases), T. soudanense (2 cases), M. fulvum (1 case), M. audouinii (1 case) and M. ferrugineum (2 cases).T. mentagrophytes var. quinckeanum was isolated from an inflammatory tinea capitis lesion in an a-3-year-old girl. T. mentagrophytes var. erinacei was isolated from the first case of tinea manuum, in-a-10-year-old girl. The same fungus was isolated from the hair and scales of the hedgehog. Our study showed significant changes in the dermatophytes spectrum in our region. The prevalence of zoophilic species increased in recent years due to people's behavioral changes with the adoption of pets and animal husbandry in urban settings. Molecular methods are often crucial that help us to refine the identification strains of dermatophytes and to identify their origin of the contamination.

Keywords: dermatophytoses, PCR-sequencing, spectrum, Sfax, Tunisia

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1260 The Effect of Gamma rays on Physicochemical Properties of Carboxymethyl Starch

Authors: N. Rajeswara Rao, T. Venkatappa Rao, K. Sowri Babu, N. Srinivas Rao, P. S. V. Shanmukhi

Abstract:

Carboxymethyl Starch (CMS) is a biopolymer derived from starch by the substitution method. CMS is proclaimed to have improved physicochemical properties than native starch. The present work deals with the effect of gamma radiation on the physicochemical properties of CMS. The samples were exposed to gamma irradiation of doses 30, 60 and 90 kGy. The resultant properties were studied with electron spin resonance (ESR), fourier transform infrared spectrometer (FTIR), differential scanning calorimeter (DSC), X-ray diffractometer (XRD) and scanning electron microscopy. Irradiation of CMS by gamma rays initiates cleavage of glucosidic bonds producing different types of radicals. Some of these radicals convert to peroxy radicals by abstracting oxygen. The ESR spectrum of CMS is anisotropic and is thought to be due to the superposition of various component spectra. In order to analyze the ESR spectrum, computer simulations were also employed. ESR spectra are also recorded under different conditions like post-irradiation times, variable temperatures and saturation behavior in order to evaluate the stability of free radicals produced on irradiation. Thermal studies from DSC depict that for CMS the gelatization process was absconded at higher doses. Relative crystallinity was reduced significantly after irradiation from XRD Studies. FTIR studies also confirm the same aspect. From ESR studies, it was concluded that irradiated CMS could be a potential reference material in ESR dosimetry.

Keywords: gamma rays, free radicals, ESR simulations, gelatization

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1259 Visual Preferences of Elementary School Children with Autism Spectrum Disorder: An Experimental Study

Authors: Larissa Pliska, Isabel Neitzel, Michael Buschermöhle, Olga Kunina-Habenicht, Ute Ritterfeld

Abstract:

Visual preferences, which can be assessed using eye tracking technologies, are considered one of the defining hallmarks of Autism Spectrum Disorder (ASD). Specifically, children with ASD show a decreased preference for social images rather than geometric images compared to typically developed (TD) children. Such differences are already prevalent at a very early age and indicate the severity of the disorder: toddlers with ASD who preferred geometric images when confronted with social and geometric images showed higher ASD symptom severity than toddlers with ASD who showed higher social attention. Furthermore, the complexity of social pictures (one child playing vs. two children playing together) as well as the mode of stimulus presentation (video or image), are not decisive for the marker. The average age of diagnosis for ASD in Germany is 6.5 years, and visual preference data on this age group is missing. In the present study, we therefore investigated whether visual preferences persist into school age. We examined the visual preferences of 16 boys aged 6 to 11 with ASD and unimpaired cognition as well as TD children (1:1 matching based on children's age and the parent's level of education) within an experimental setting. Different stimulus presentation formats (images vs. videos) and different levels of stimulus complexity were included. Children with and without ASD received pairs of social and non-social images and video stimuli on a screen while eye movements (i.e., eye position and gaze direction) were recorded. For this specific use case, KIZMO GmbH developed a customized, native iOS app (KIZMO Face-Analyzer) for use on iPads. Neither the format of stimulus presentation nor the complexity of the social images had a significant effect on the visual preference of children with and without ASD in this study. Despite the tendency for a difference between the groups for the video stimuli, there were no significant differences. Overall, no statistical differences in visual preference occurred between boys with and without ASD, suggesting that gaze preference in these groups is similar at primary school age. One limitation is that the children with ASD were already receiving Autism-specific intervention. The potential of a visual preference task as an indicator of ASD can be emphasized. The article discusses the clinical relevance of this marker in elementary school children.

Keywords: autism spectrum disorder, eye tracking, hallmark, visual preference

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1258 A Structural and Magnetic Investigation of the Inversion Degree in Spinel NiFe2O4, ZnFe2O4 and Ni0.5Zn0.5Fe2O4 Ferrites Prepared by Soft Mechanochemical Synthesis

Authors: Z. Ž. Lazarević, D. L. Sekulić, V. N. Ivanovski, N. Ž. Romčević

Abstract:

NiFe2O4 (nickel ferrite), ZnFe2O4 (zinc ferrite) and Ni0.5Zn0.5Fe2O4 (nickel-zinc ferrite) were prepared by mechanochemical route in a planetary ball mill starting from mixture of the appropriate quantities of the Ni(OH)2/Fe(OH)3, Zn(OH)2/Fe(OH)3 and Ni(OH)2/Zn(OH)2/Fe(OH)3 hydroxide powders. In order to monitor the progress of chemical reaction and confirm phase formation, powder samples obtained after 25 h, 18 h and 10 h of milling were characterized by X-ray diffraction (XRD), transmission electron microscopy (TEM), IR, Raman and Mössbauer spectroscopy. It is shown that the soft mechanochemical method, i.e. mechanochemical activation of hydroxides, produces high quality single phase ferrite samples in much more efficient way. From the IR spectroscopy of single phase samples it is obvious that energy of modes depends on the ratio of cations. It is obvious that all samples have more than 5 Raman active modes predicted by group theory in the normal spinel structure. Deconvolution of measured spectra allows one to conclude that all complex bands in the spectra are made of individual peaks with the intensities that vary from spectrum to spectrum. The deconvolution of Raman spectra allows to separate contributions of different cations to a particular type of vibration and to estimate the degree of inversion.

Keywords: ferrites, Raman spectroscopy, IR spectroscopy, Mössbauer measurements

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1257 Elaboration and Characterization of Silver Nanoparticles for Therapeutic and Environmental Applications

Authors: Manel Bouloudenine, Karima Djeddou, Hadjer Ben Manser, Hana Soualah Alila, Mohmed Bououdina

Abstract:

This survey research involves the elaboration and characterization of silver nanoparticles for therapeutic and environmental applications. The silver nanoparticles "Ag NPs" were synthesized by reducing AgNO3 with microwaves. The characterization of nanoparticles was done by using Transmission Electron Microscopy " TEM ", Energy Dispersive Spectroscopy "EDS", Selected Area Electron Diffraction "SEAD", UV-Visible Spectroscopy and Dynamic Light Scattering "DLS". Transmission Electron Microscopy and Electron Diffraction have confirmed the nanoscale, the shape, and the crystalline quality of as synthesized silver nanoparticles. Elementary analysis has proved the purity of Ag NPs and the presence of the Surface Plasmon Resonance phenomenon "SPR". A strong absorption shift was observed in the visible range of the UV-visible spectrum of as synthesized Ag NPs, which indicates the presence of metallic silver. When the strong absorption in the ultraviolet range of the spectrum has revealed the presence of ionic Ag NPs ionic Ag aggregates species. The autocorrelation function measured by the Dynamic Light Scattering has shown a strong monodispersed character of Ag NPs, which is indicated by the presence of a single size population, with a minima and a maxima laying between 40 and 111 nm. Related to other research, our results confirm the performance properties of as synthesized Ag NPs, which allows them to be performing in many technological applications, including therapeutic and environmental ones.

Keywords: silvers nanoparticles, microwaves, EDS, TEM

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1256 A Multiple Perspectives Approach on the Well-Being of Students with Autism Spectrum Disorder

Authors: Joanne Danker, Iva Strnadová, Therese Cumming

Abstract:

As a consequence of the increased evidence of the bi-directional relationship between student well-being and positive educational outcomes, there has been a surge in the number of research studies dedicated to understanding the notion of student well-being and the ways to enhance it. In spite of these efforts, the concept of student well-being remains elusive. Additionally, studies on student well-being mainly consulted adults' perspectives and failed to take into account students' views, which if considered, could contribute to a clearer understanding of the complex concept of student well-being. Furthermore, there is a lack of studies focusing on the well-being of students with autism spectrum disorder (ASD), and these students continue to fare worse in post-school outcomes as compared to students without disabilities, indicating a significant gap in the current research literature. Findings from research conducted on students without disabilities may not be applicable to students with ASD as their educational experiences may differ due to the characteristics associated with ASD. Thus, the purpose of this study was to explore how students with ASD, their parents, and teachers conceptualise student well-being. It also aims to identify the barriers and assets of the well-being of these students. To collect data, 19 teachers and 11 parents participated in interviews while 16 high school students with ASD were involved in a photovoice project regarding their well-being in school. Grounded theory approaches such as open and axial coding, memo-writing, diagramming, and making constant comparisons were adopted to analyse the data. All three groups of participants conceptualised student well-being as a multidimensional construct consisting of several domains. These domains were relationships, engagement, positive/negative emotions, and accomplishment. Three categories of barriers were identified. These were environmental, attitudes and behaviours of others, and impact of characteristics associated with ASD. The identified internal assets that could contribute to student well-being were acceptance, resilience, self-regulation, and ability to work with others. External assets were knowledgeable and inclusive school community, and having access to various school programs and resources. It is crucial that schools and policymakers provide ample resources and programs to adequately support the development of each identified domain of student well-being. This could in turn enhance student well-being and lead to more successful educational outcomes for students with ASD.

Keywords: autism spectrum disorder, grounded theory approach, school experiences, student well-being

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1255 Use of Telehealth for Facilitating the Diagnostic Assessment of Autism Spectrum Disorder: A Scoping Review

Authors: Manahil Alfuraydan, Jodie Croxall, Lisa Hurt, Mike Kerr, Sinead Brophy

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Autism Spectrum Disorder (ASD) is a developmental condition characterised by impairment in terms of social communication, social interaction, and a repetitive or restricted pattern of interest, behaviour, and activity. There is a significant delay between seeking help and a confirmed diagnosis of ASD. This may result in delay in receiving early intervention services, which are critical for positive outcomes. The long wait times also cause stress for the individuals and their families. Telehealth potentially offers a way of improving the diagnostic pathway for ASD. This review of the literature aims to examine which telehealth approaches have been used in the diagnosis and assessment of autism in children and adults, whether they are feasible and acceptable, and how they compare with face-to-face diagnosis and assessment methods. A comprehensive search of following databases- MEDLINE, CINAHL Plus with Full text, Business Sources Complete, Web of Science, Scopus, PsycINFO and trail and systematic review databases including Cochrane Library, Health Technology Assessment, Database of Abstracts and Reviews of Effectiveness and NHS Economic Evaluation was conducted, combining the terms of autism and telehealth from 2000 to 2018. A total of 10 studies were identified for inclusion in the review. This review of the literature found there to be two methods of using telehealth: (a) video conferencing to enable teams in different areas to consult with the families and to assess the child/adult in real time and (b) a video upload to a web portal that enables the clinical assessment of behaviours in the family home. The findings were positive, finding there to be high agreement in terms of the diagnosis between remote methods and face to face methods and with high levels of satisfaction among the families and clinicians. This field is in the very early stages, and so only studies with small sample size were identified, but the findings suggest that there is potential for telehealth methods to improve assessment and diagnosis of autism used in conjunction with existing methods, especially for those with clear autism traits and adults with autism. Larger randomised controlled trials of this technology are warranted.

Keywords: assessment, autism spectrum disorder, diagnosis, telehealth

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1254 Solving Operating Room Scheduling Problem by Using Dispatching Rule

Authors: Yang-Kuei Lin, Yin-Yi Chou

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In this research, we have considered operating room scheduling problem. The objective is to minimize total operating cost. The total operating cost includes idle cost and overtime cost. We have proposed a dispatching rule that can guarantee to find feasible solutions for the studied problem efficiently. We compared the proposed dispatching rule with the optimal solutions found by solving Inter Programming, and other solutions found by using modified existing dispatching rules. The computational results indicates that the proposed heuristic can find near optimal solutions efficiently.

Keywords: assignment, dispatching rule, operation rooms, scheduling

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1253 Variability of Surface Air Temperature in Sri Lanka and Its Relation to El Nino Southern Oscillation and Indian Ocean Dipole

Authors: Athdath Waduge Susantha Janaka Kumara, Xiefei Zhi, Zin Mie Mie Sein

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Understanding the air temperature variability is crucially important for disaster risk reduction and management. In this study, we used 15 synoptic meteorological stations to assess the spatiotemporal variability of air temperature over Sri Lanka during 1972–2021. The empirical orthogonal function (EOF), Principal component analysis (PCA), Mann-Kendall test, power spectrum analysis and correlation coefficient analysis were used to investigate the long-term trends of air temperature and their possible relation to sea surface temperature (SST) over the region. The results indicate that an increasing trend in air temperature was observed with the abrupt climate change noted in the year 1994. The spatial distribution of EOF1 (63.5%) shows the positive and negative loading dipole patterns from south to northeast, while EOF2 (23.4%) explains warmer (colder) in some parts of central (south and east) areas. The power spectrum of PC1 (PC2) indicates that there is a significant period of 3-4 years (quasi-2 years). Moreover, Indian Ocean Dipole (IOD) provides a strong positive correlation with the air temperature of Sri Lanka, while the EL Nino Southern Oscillation (ENSO) presents a weak negative correlation. Therefore, IOD events led to higher temperatures in the region. This study’s findings can help disaster risk reduction and management in the country.

Keywords: air temperature, interannaul variability, ENSO, IOD

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1252 Magnification Factor Based Seismic Response of Moment Resisting Frames with Open Ground Storey

Authors: Subzar Ahmad Bhat, Saraswati Setia, V. K.Sehgal

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During the past earthquakes, open ground storey buildings have performed poorly due to the soft storey defect. Indian Standard IS 1893:2002 allows analysis of open ground storey buildings without considering infill stiffness but with a multiplication factor 2.5 in compensation for the stiffness discontinuity. Therefore, the aim of this paper is to check the applicability of the multiplication factor of 2.5 and study behaviour of the structure after the application of the multiplication factor. For this purpose, study is performed on models considering infill stiffness using SAP 2000 (Version 14) by linear static analysis and response spectrum analysis. Total seven models are analysed and designed for the range of multiplication factor ranging from 1.25 to 2.5. The value of multiplication factor equal to 2.5 has been found on the higher side, resulting in increased dimension and percentage of reinforcement without significant enhancement beyond a certain multiplication factor. When the building with OGS is designed for values of MF higher than 1.25 considering infill stiffness soft storey effect shifts from ground storey to first storey. For the analysis of the OGS structure best way to analysis the structure is to analyse it as the frame with stiffness and strength of the infill taken into account. The provision of infill walls in the upper storeys enhances the performance of the structure in terms of displacement and storey drift controls.

Keywords: open ground storey, multiplication factor, IS 1893:2002 provisions, static analysis, response spectrum analysis, infill stiffness, equivalent strut

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1251 Social Communication Problems, Social Anxiety, and Mood Problems among Students with Autism Spectrum Disorder from Teachers' Perspective

Authors: Naila Tallas Mahajna, Jamal Al Khateeb

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This study examined the level of social communication problems, social anxiety, and mood problems among children with ASD (age 6-13 years) enrolled in special classes (n=46) and regular classes (n=36) from teachers' perspective in the schools of a part of Palestine. Teachers responded to three questionnaires - social communication problems, social anxiety and mood problems- that were used to answer the research questions. Results: social communication problems, social anxiety and mood problems were of medium rates for students with ASD enrolled in reguler and special classes. No significant differences in the level of social communication problems could be attributed to class type (Regular, Special) or the grade level-(1st – 3rd, 4th - 6th). There were significant differences in social anxiety levels that could be attributed to grade level in favor of the 4th - 6th grades but there were no significant differences according to class type (Regular, Special). There were statistically significant differences in mood problems levels that could be attributed to the class type in favor of special classes, but no differences were found according to grade level. There was a direct significant relationship between communication problems, social anxiety, and mood problems. Conclusion: social communication problems may be an important risk factor for the development of social anxiety and mood problems among students with ASD.

Keywords: social communication problems, social anxiety, mood problems, autism spectrum disorders

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1250 Aquatic Intervention Research for Children with Autism Spectrum Disorders

Authors: Mehmet Yanardag, Ilker Yilmaz

Abstract:

Children with autism spectrum disorders (ASD) enjoy and success the aquatic-based exercise and play skills in a pool instead of land-based exercise in a gym. Some authors also observed that many children with ASD experience more success in attaining movement skills in aquatic environment. Properties of the water and hydrodynamic principles cause buoyancy of the water and decrease effects of gravity and it leads to allow a child to practice important aquatic skills with limited motor skills. Also, some authors experience that parents liked the effects of the aquatic intervention program on children with ASD such as improving motor performance, movement capacity and learning basic swimming skills. The purpose of this study was to investigate the effects of aquatic exercise training on water orientation and underwater working capacity were measured in the pool. This study included in four male children between 5 and 7 years old with ASD and 6.25±0.5 years old. Aquatic exercise skills were applied by using one of the error less teaching which is called the 'most to least prompt' procedure during 12-week, three times a week and 60 minutes a day. The findings of this study indicated that there were improvements test results both water orientation skill and underwater working capacity of children with ASD after 12-weeks exercise training. It was seen that the aquatic exercise intervention would be affected to improve working capacity and orientation skills with the special education approaches applying children with ASD in multidisciplinary team-works.

Keywords: aquatic, autism, orientation, ASD, children

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1249 The Effectiveness of Therapeutic Exercise on Motor Skills and Attention of Male Students with Autism Spectrum Disorder

Authors: Masoume Pourmohamadreza-Tajrishi, Parviz Azadfallah

Abstract:

Autism spectrum disorders (ASD) involve myriad aberrant perceptual, cognitive, linguistic, and social behaviors. The term spectrum emphasizes that the disabilities associated with ASD fall on a continuum from relatively mild to severe. People with ASD may display stereotyped behaviors such as twirling, spinning objects, flapping the hands, and rocking. The individuals with ASD exhibit communication problems due to repetitive/restricted behaviors. Children with ASD who lack the motivation to learn, who do not enjoy physical challenges, or whose sensory perception results in confusing or unpleasant feedback from movement may not become sufficiently motivated to practice motor activities. As a result, they may show both a delay in developing certain motor skills. Additionally, attention is an important component of learning. As far as children with ASD have problems in joint attention, many education-based programs are needed to consider some aspects of attention and motor activities development for students with ASD. These programs focus on the basic movement skills that are crucial for the future development of the more complex skills needed in games, dance, sports, gymnastics, active play, and recreational physical activities. The purpose of the present research was to determine the effectiveness of therapeutic exercise on motor skills and attention of male students with ASD. This was an experimental study with a control group. The population consisted of 8-10 year-old male students with ASD and 30 subjects were selected randomly from an available center suitable for the children with ASD. They were evaluated by the Basic Motor Ability Test (BMAT) and Persian version of computerized Stroop color-word test and randomly assigned to an experimental and control group (15 students in per group). The experimental group participated in 16 therapeutic exercise sessions and received therapeutic exercise program (twice a week; each lasting for 45 minutes) designed based on the Spark motor program while the control group did not. All subjects were evaluated by BMAT and Stroop color-word test after the last session again. The collected data were analyzed by using multivariate analysis of covariance (MANCOVA). The results of MANCOVA showed that experimental and control groups had a significant difference in motor skills and at least one of the components of attention (correct responses, incorrect responses, no responses, the reaction time of congruent words and reaction time of incongruent words in the Stroop test). The findings showed that the therapeutic exercise had a significant effect on motor skills and all components of attention in students with ASD. We can conclude that the therapeutic exercise led to promote the motor skills and attention of students with ASD, so it is necessary to design or plan such programs for ASD students to prevent their communication or academic problems.

Keywords: Attention, autism spectrum disorder, motor skills, therapeutic exercise

Procedia PDF Downloads 118
1248 Power Allocation Algorithm for Orthogonal Frequency Division Multiplexing Based Cognitive Radio Networks

Authors: Bircan Demiral

Abstract:

Cognitive radio (CR) is the promising technology that addresses the spectrum scarcity problem for future wireless communications. Orthogonal Frequency Division Multiplexing (OFDM) technology provides more power band ratios for cognitive radio networks (CRNs). While CR is a solution to the spectrum scarcity, it also brings up the capacity problem. In this paper, a novel power allocation algorithm that aims at maximizing the sum capacity in the OFDM based cognitive radio networks is proposed. Proposed allocation algorithm is based on the previously developed water-filling algorithm. To reduce the computational complexity calculating in water filling algorithm, proposed algorithm allocates the total power according to each subcarrier. The power allocated to the subcarriers increases sum capacity. To see this increase, Matlab program was used, and the proposed power allocation was compared with average power allocation, water filling and general power allocation algorithms. The water filling algorithm performed worse than the proposed algorithm while it performed better than the other two algorithms. The proposed algorithm is better than other algorithms in terms of capacity increase. In addition the effect of the change in the number of subcarriers on capacity was discussed. Simulation results show that the increase in the number of subcarrier increases the capacity.

Keywords: cognitive radio network, OFDM, power allocation, water filling

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1247 Cross-sectional Developmental Trajectories of Executive Function and Relations to Theory of Mind in Autism Spectrum Disorder

Authors: Evangelia-Chrysanthi Kouklari, Evdokia Tagkouli, Vassiliki Ntre, Artemios Pehlivanidis, Stella Tsermentseli, Gerasimos Kolaitis, Katerina Papanikolaou

Abstract:

Executive Function (EF) is a set of goal-directed cognitive skills essentially needed in problem-solving and social behavior. Developmental EF research has indicated that EF emerges early in life and marks dramatic changes before the age of 5. Research evidence has suggested that it may continue to develop up to adolescence as well, following the development of the prefrontal cortex. Over the last decade, research evidence has suggested distinguished domains of cool and hot EF, but traditionally the development of EF in Autism Spectrum Disorder (ASD) has been examined mainly with tasks that address the “cool” cognitive aspects of EF. Thus, very little is known about the development of “hot” affective EF processes and whether the cross-sectional developmental pathways of cool and hot EF present similarities in ASD. Cool EF has also been proven to have a strong correlation with Theory of Mind (ToM) in young and middle childhood in typical development and in ASD, but information about the relationship of hot EF to ToM skills is minimal. The present study’s objective was to explore the age-related changes of cool and hot EF in ASD participants from middle childhood to adolescence, as well as their relationship to ToM. This study employed an approach of cross-sectional developmental trajectories to investigate patterns of cool and hot EF relative to chronological age within ASD. Eighty-two participants between 7 and 16 years of age were recruited to undertake measures that assessed cool EF (working memory, cognitive flexibility, planning & inhibition), hot EF (affective decision making & delay discounting) and ToM (false belief and mental state/emotion recognition). Results demonstrated that trajectories of all cool EF presented age-related changes in ASD (improvements with age). With regards to hot EF, affective decision-making presented age-related changes, but for delay discounting, there were no statistically significant changes found across younger and older ASD participants. ToM was correlated only to cool EF. Theoretical implications are discussed as the investigation of the cross-sectional developmental trajectories of the broader EF (cool and hot domains) may contribute to better defining cognitive phenotypes in ASD. These findings highlight the need to examine developmental trajectories of both hot and cool EF in research and clinical practice as they may aid in enhancing diagnosis or better-informed intervention programs.

Keywords: autism spectrum disorder, developmental trajectories, executive function, theory of mind

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1246 Effect of Infill Walls on Response of Multi Storey Reinforced Concrete Structure

Authors: Ayman Abd-Elhamed, Sayed Mahmoud

Abstract:

The present research work investigates the seismic response of reinforced concrete (RC) frame building considering the effect of modeling masonry infill (MI) walls. The seismic behavior of a residential 6-storey RC frame building, considering and ignoring the effect of masonry, is numerically investigated using response spectrum (RS) analysis. The considered herein building is designed as a moment resisting frame (MRF) system following the Egyptian code (EC) requirements. Two developed models in terms of bare frame and infill walls frame are used in the study. Equivalent diagonal strut methodology is used to represent the behavior of infill walls, whilst the well-known software package ETABS is used for implementing all frame models and performing the analysis. The results of the numerical simulations such as base shear, displacements, and internal forces for the bare frame as well as the infill wall frame are presented in a comparative way. The results of the study indicate that the interaction between infill walls and frames significantly change the responses of buildings during earthquakes compared to the results of bare frame building model. Specifically, the seismic analysis of RC bare frame structure leads to underestimation of base shear and consequently damage or even collapse of buildings may occur under strong shaking. On the other hand, considering infill walls significantly decrease the peak floor displacements and drifts in both X and Y-directions.

Keywords: masonry infill, bare frame, response spectrum, seismic response

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1245 Executive Function in Youth With ADHD and ASD: A Systematic Review and Meta-analysis

Authors: Parker Townes, Prabdeep Panesar, Chunlin Liu, Soo Youn Lee, Dan Devoe, Paul D. Arnold, Jennifer Crosbie, Russell Schachar

Abstract:

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are impairing childhood neurodevelopmental disorders with problems in executive functions. Executive functions are higher-level mental processes essential for daily functioning and goal attainment. There is genetic and neural overlap between ADHD and ASD. The aim of this meta-analysis was to evaluate if pediatric ASD and ADHD have distinct executive function profiles. This review was completed following Cochrane guidelines. Fifty-eight articles were identified through database searching, followed by a blinded screening in duplicate. A meta-analysis was performed for all task performance metrics evaluated by at least two articles. Forty-five metrics from 24 individual tasks underwent analysis. No differences were found between youth with ASD and ADHD in any domain under direct comparison. However, individuals with ASD and ADHD exhibited deficient attention, flexibility, visuospatial abilities, working memory, processing speed, and response inhibition compared to controls. No deficits in planning were noted in either disorder. Only 11 studies included a group with comorbid ASD+ADHD, making it difficult to determine whether common executive function deficits are a function of comorbidity. Further research is needed to determine if comorbidity accounts for the apparent commonality in executive function between ASD and ADHD.

Keywords: autism spectrum disorder, ADHD, neurocognition, executive function, youth

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1244 Nanosilver Containing Biodegradable Bionanocomposites for Antimicrobial Application: Design, Preparation and Study

Authors: Nino Kupatadze, Shorena Tskhadadze, Mzevinar Bedinashvili, David Tugushi, Ramaz Katsarava

Abstract:

Surgical device-associated infection and biofilm formation are some of the major problems in biomedicine for today. The losing protection ability of conventional antimicrobial-drugs leads to the challenges in the current antibiotic therapy, the most serious of which is antibiotic resistance. Our strategy to overcome the biofilm formation consists in coating devices with polymeric film containing nanosilver(AgNPs) as a bactericidal agent. Such bionanocomposites are also promising as wound dressing materials. For this purpose, we have developed a new generation of AgNPs containing polymeric composites in which amino acid based biodegradable poly(ester amide)s (PEAs) were served as both matrices and AgNPs stabilizers. The AgNPs were formed by photochemical (daylight) reduction of AgNO3 in ethanol solution. The formation of AgNPs was monitored by coloring the solution in brownish-red and appearance of the absorption maximum at 420-430 nm in UV spectrum. Comparative studies of PEAs with polyvinylpyrrolidone (PVP) as particle stabilizers were carried out. It was found that PVP is better stabilizer in terms of particles yield and stability. Therefore, in subsequent experiments blends of PEAs and PVP were used as stabilizers for fabricating AgNPs. As expected, PVP increased the stabilizing effect and this apparently observed in the UV spectrum of the samples after 7 h daylight irradiation: for pure PVP λmax = 430 nm, D = 2.03, for pure PEA λmax= 420 nm, D = 0.65, and for the blend of PVP and PEA λmax = 435 nm, D = 1.88. Further study of the obtained nanobiocomposites is in progress now.

Keywords: biodegradation, bionanocompositions, polymer, nanosilver

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1243 Understanding Regional Circulations That Modulate Heavy Precipitations in the Kulfo Watershed

Authors: Tesfay Mekonnen Weldegerima

Abstract:

Analysis of precipitation time series is a fundamental undertaking in meteorology and hydrology. The extreme precipitation scenario of the Kulfo River watershed is studied using wavelet analysis and atmospheric transport, a lagrangian trajectory model. Daily rainfall data for the 1991-2020 study periods are collected from the office of the Ethiopian Meteorology Institute. Meteorological fields on a three-dimensional grid at 0.5o x 0.5o spatial resolution and daily temporal resolution are also obtained from the Global Data Assimilation System (GDAS). Wavelet analysis of the daily precipitation processed with the lag-1 coefficient reveals some high power recurred once every 38 to 60 days with greater than 95% confidence for red noise. The analysis also identified inter-annual periodicity in the periods 2002 - 2005 and 2017 - 2019. Back trajectory analysis for 3-day periods up to May 19/2011, indicates the Indian Ocean source; trajectories crossed the eastern African escarpment to arrive at the Kulfo watershed. Atmospheric flows associated with the Western Indian monsoon redirected by the low-level Somali winds and Arabian ridge are responsible for the moisture supply. The time-localization of the wavelet power spectrum yields valuable hydrological information, and the back trajectory approaches provide useful characterization of air mass source.

Keywords: extreme precipitation events, power spectrum, back trajectory, kulfo watershed

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1242 A Non-Destructive Estimation Method for Internal Time in Perilla Leaf Using Hyperspectral Data

Authors: Shogo Nagano, Yusuke Tanigaki, Hirokazu Fukuda

Abstract:

Vegetables harvested early in the morning or late in the afternoon are valued in plant production, and so the time of harvest is important. The biological functions known as circadian clocks have a significant effect on this harvest timing. The purpose of this study was to non-destructively estimate the circadian clock and so construct a method for determining a suitable harvest time. We took eight samples of green busil (Perilla frutescens var. crispa) every 4 hours, six times for 1 day and analyzed all samples at the same time. A hyperspectral camera was used to collect spectrum intensities at 141 different wavelengths (350–1050 nm). Calculation of correlations between spectrum intensity of each wavelength and harvest time suggested the suitability of the hyperspectral camera for non-destructive estimation. However, even the highest correlated wavelength had a weak correlation, so we used machine learning to raise the accuracy of estimation and constructed a machine learning model to estimate the internal time of the circadian clock. Artificial neural networks (ANN) were used for machine learning because this is an effective analysis method for large amounts of data. Using the estimation model resulted in an error between estimated and real times of 3 min. The estimations were made in less than 2 hours. Thus, we successfully demonstrated this method of non-destructively estimating internal time.

Keywords: artificial neural network (ANN), circadian clock, green busil, hyperspectral camera, non-destructive evaluation

Procedia PDF Downloads 287
1241 Effect of Irregularities on Seismic Performance of Building

Authors: Snehal Mevada, Darshana Bhatt, Aryan Kalthiya, Neel Parmar, Vishal Baraiya, Dhruvit Bhanderi, Tisha Patel

Abstract:

In multi-storeyed framed buildings, damage occurring from earthquake ground motion generally initiates at locations of structural weaknesses present in the lateral load-resisting frame. In some cases, these weaknesses may be created by discontinuities in stiffness, mass, plan, and torsion. Such discontinuity between storeys is often associated with sudden variations in the vertical geometric irregularities and plan irregularities. Vertical irregularities are structures with a soft storey that can further be broken down into the different types of irregularities as well as their severity for a more refined assessment tool pushover analysis which is one of the methods available for evaluating building against earthquake loads. So, it is very necessary to analyse and understand the seismic performance of the irregular structure in order to reduce the damage which occurs during an earthquake. In this project, a multi-storey (G+4) RCC building with four irregularities (stiffness, mass, plan, torsion) is studied for earthquake loads using the response spectrum method (dynamic analysis) and STADD PRO. All analyses have been done for seismic zone IV and for Medium Soil. In this study effects of different irregularities are analysed based on storey displacement, storey drift, and storey shear.

Keywords: comparison of regular and irregular structure, dynamic analysis, mass irregularity, plan irregularity, response spectrum method, stiffness irregularity, seismic performance, torsional irregularity, STAAD PRO

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1240 A Robotic “Puppet Master” Application to ASD Therapeutic Support

Authors: Sophie Sakka, Rénald Gaboriau

Abstract:

This paper describes a preliminary work aimed at setting a therapeutic support for autistic teenagers using three humanoid robots NAO shared by ASD (Autism Spectrum Disorder) subjects. The studied population had attended successfully a first year program, and were observed with a second year program using the robots. This paper focuses on the content and the effects of the second year program. The approach is based on a master puppet concept: the subjects program the robots, and use them as an extension for communication. Twenty sessions were organized, alternating ten preparatory sessions and ten robotics programming sessions. During the preparatory sessions, the subjects write a story to be played by the robots. During the robot programming sessions, the subjects program the motions to be realized to make the robot tell the story. The program was concluded by a public performance. The experiment involves five ASD teenagers aged 12-15, who had all attended the first year robotics training. As a result, a progress in voluntary and organized communication skills of the five subjects was observed, leading to improvements in social organization, focus, voluntary communication, programming, reading and writing abilities. The changes observed in the subjects general behavior took place in a short time, and could be observed from one robotics session to the next one. The approach allowed the subjects to draw the limits of their body with respect to the environment, and therefore helped them confronting the world with less anxiety.

Keywords: autism spectrum disorder, robot, therapeutic support, rob'autism

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1239 Detection, Analysis and Determination of the Origin of Copy Number Variants (CNVs) in Intellectual Disability/Developmental Delay (ID/DD) Patients and Autistic Spectrum Disorders (ASD) Patients by Molecular and Cytogenetic Methods

Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

Abstract:

ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

Procedia PDF Downloads 341