Search results for: improving practice and functioning of children and families

Authors: Chirine Dannaoui, Maya Antoun

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This paper explores the intricate dynamics of play-based early childhood education (ECE) and the impact of professional development on teachers implementing play-based pedagogy, particularly in the context of vulnerable Syrian refugee children in Lebanon. By utilizing qualitative methodologies, including classroom observations and in-depth interviews with five early childhood educators and a field manager, this study delves into the challenges and transformations experienced by teachers in adopting play-based learning strategies. The research unveils the critical role of continuous and context-specific professional development in empowering teachers to implement play-based pedagogies effectively. When appropriately supported, it emphasizes how such educational approaches significantly enhance children's cognitive, social, and emotional development in crisis-affected environments. Key findings indicate that despite diverse educational backgrounds, teachers show considerable growth in their pedagogical skills through targeted professional development. This growth is vital for fostering a learning environment where vulnerable children can thrive, particularly in humanitarian settings. The paper also addresses educators' challenges, including adapting to play-based methodologies, resource limitations, and balancing curricular requirements with the need for holistic child development. This study contributes to the discourse on early childhood education in crisis contexts, emphasizing the need for sustainable, well-structured professional development programs. It underscores the potential of play-based learning to bridge educational gaps and contribute to the healing process of children facing calamity. The study highlights significant implications for policymakers, educators, schools, and not-for-profit organizations engaged in early childhood education in humanitarian contexts, stressing the importance of investing in teacher capacity and curriculum reform to enhance the quality of education for children in general and vulnerable ones in particular.

Keywords: play-based learning, professional development, vulnerable children, early childhood education

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Authors: Li-Ching Lin, Yu-Tzu Dai

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Recurrent foot ulcers or foot amputation have a major impact on patients with diabetes mellitus (DM), medical professionals, and society. A critical procedure for foot care is foot self-monitoring. Medical professionals’ understanding of patients’ foot self-monitoring knowledge, attitude, and practice is beneficial for raising patients’ disease awareness. This study investigated these and related factors among patients with DM through a descriptive study of the correlations. A scale for measuring the foot self-monitoring knowledge, attitude, and practice of patients with DM was used. Purposive sampling was adopted, and 100 samples were collected from the respondents’ self-reports or from interviews. The statistical methods employed were an independent-sample t-test, one-way analysis of variance, Pearson correlation coefficient, and multivariate regression analysis. The findings were as follows: the respondents scored an average of 12.97 on foot self-monitoring knowledge, and the correct answer rate was 68.26%. The respondents performed relatively lower in foot health screenings and recording, and awareness of neuropathy in the foot. The respondents held a positive attitude toward self-monitoring their feet and a negative attitude toward having others check the soles of their feet. The respondents scored an average of 12.64 on foot self-monitoring practice. Their scores were lower in their frequency of self-monitoring their feet, recording their self-monitoring results, checking their pedal pulse, and examining if their soles were red immediately after taking off their shoes. Significant positive correlations were observed among foot self-monitoring knowledge, attitude, and practice. The correlation coefficient between self-monitoring knowledge and self-monitoring practice was 0.20, and that between self-monitoring attitude and self-monitoring practice was 0.44. Stepwise regression analysis revealed that the main predictive factors of the foot self-monitoring practice in patients with DM were foot self-monitoring attitude, prior experience in foot care, and an educational attainment of college or higher. These factors predicted 33% of the variance. This study concludes that patients with DM lacked foot self-monitoring practice and advises that the patients’ self-monitoring abilities be evaluated first, including whether patients have poor eyesight, difficulties in bending forward due to obesity, and people who can assist them in self-monitoring. In addition, patient education should emphasize self-monitoring knowledge and practice, such as perceptions regarding the symptoms of foot neurovascular lesions, pulse monitoring methods, and new foot self-monitoring equipment. By doing so, new or recurring ulcers may be discovered in their early stages.

Keywords: diabetic foot, foot self-monitoring attitude, foot self-monitoring knowledge, foot self-monitoring practice

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Authors: Carmit Noa Shpigelman, Michal Isaacson

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Over the last decades, the improvement in welfare and health services and the increase in awareness of the needs of people with intellectual disability has led to an increase in their life expectancy, and many of them enter into old age. Furthermore, many older adults with intellectual disability live in out-of-home residence. This situation, in addition to the parents' aging process as the main caregivers, may lead to a reduction in contact with the family and, as a result, decreased level of the residents' (older adults with intellectual disability) well-being. A plausible solution for this condition may be using communication technologies. Previous studies indicate that using communication technologies among older adults contributes to maintaining the relationship with others, decreasing the older adult's sense of loneliness, and increasing their level of well-being. Using communication technologies may be especially valuable for older adults in the current global pandemic of COVID-19 and the associated restrictions of social distancing. However, to date, research on using communication technologies among people with intellectual disability has focused on younger cohorts. Moreover, research on the adoption of technologies among older adults with intellectual disability has focused more on assistive technologies and less on communication technologies. To address these practice and research gaps, the present study focuses on the adoption process of communication technology among older adults with intellectual disability (over the age of 45 years) who live in supported accommodation. Fifteen residents participated in an intervention program where they received a tablet with a video communication application and through which they were able to contact their families. A multiple-case study methodology was applied to capture the experiences, including barriers and needs, of the residents from three perspectives: the resident, the family member, and a staff member from the residential setting. The data was collected via quantitative and qualitative measures at different time points over the intervention. The findings demonstrate the contribution of using communication technology for the well-being of older adults with intellectual disability in supported accommodation. The findings also map the adoption process among this population, including pitfalls. The present study contributes to developing best practices on how to accommodate communication technologies to older adults with intellectual disability for maintaining contact with others.

Keywords: adoption, aging, communication, intellectual disability, technology

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Authors: Sawsan Saridar masri, Hisham Arnaouty

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Architecture both defines and is defined by social, cultural, political and financial constraints: this is where the discipline and the profession of architecture meet. This mutual sway evolves wherever interferences in the built environment are thought-out and can be strengthened or weakened by the many ways in which the practice of architecture can be undertaken. The more familiar we are about the concerns and factors that control what can be made, the greater the opportunities to propose and make appropriate architectures. Apparently, the criteria in any qualification policy should permit flexibility of approach and will – for reasons including cultural choice, political issues, and son on – vary significantly from country to country. However the weighting of the various criteria have to ensure adequate standards both in educational system as in the professional training. This paper develops, deepens and questions about the regulatory entry routes to the professional practice of architecture in the Arab world. It is also intended to provide an informed basis about strategies for conventional and unconventional models of practice in preparation for the next stages of architect’s work experience and professional experience. With the objective of promoting the implementation of adequate built environment in the practice of architecture, a comprehensive analysis of various pathways of access to the profession are selected as case studies, encompassing examples from across the world. The review of such case studies allows the creation of a comprehensive picture in relation to the conditions for qualification of practitioners of the built environment at the level of the Middle Eastern countries and the Arab World. Such investigation considers the following aspects: professional title and domain of practice, accreditation of courses, internship and professional training, professional examination and continuing professional development.

Keywords: architecture, internship, mobility, professional practice

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Authors: Walid Al-Qerem, Ruba Zumot

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Background: The rise of obesity among children and adolescents remains a primary challenge for healthcare providers globally and in the Middle East. The aim of the present study is to determine the prevalence of obesity among 5-20 years old Jordanians based on CDC criteria. Method: A total of 5722 Jordanians (37% males; 63% females) aged 5-20 years data were retrieved from the Jordanian Ministry of Health electronic database (Hakeem). As per the CDC selection criteria, the chosen data pertains exclusively to healthy Jordanian children and adolescents who are medically sound, not suffering from health conditions, and not undergoing any treatments that could hinder normal growth patterns, such as severe infection, chronic kidney disease (CKD), Down’s syndrome, attention deficit hyperactivity disorder, cancer, heart disease, lung disease, cystic fibrosis, Crohn’s disease, type 1 diabetes, hormonal disturbances, any stress-related conditions, hormonal therapy such as corticosteroids, Growth hormones (GHS) or gonadotropin-releasing hormone agonists, insulin, and amphetamines or any other stimulants. In addition, participants with missing or invalid data values for anthropometric measurements were excluded from the study. Weight for age and body mass index for age were analyzed comparatively for Jordanian children and adolescents against the international growth standards. The Z-score for each record was computed based on CDC equations. As per CDC classifications, BMI for age percentiles, values ≥85th and < 95th are classified as overweight, and value at ≥ 95th is classified as obesity. Results: The average age of the evaluated sample was 12.33 ±4.39 years (10.79 ±3.39 for males and 13.23 ± 4.66 for females). The mean weight for males and females were 33.16±14.17 Kg and 133.54±17.17 cm for males, 43.86 ±18.82 Kg, and 142.19±18.35 for females, while for BMI the mean was for boys and girls 17.81±3.88 and 20.52±5.03 respectively. The results indicated that based on CDC criteria, 8.9% of males were classified as children/adolescents with overweight, and 9.7% were classified as children/adolescents with obesity, while in females, 17.8% were classified as children/adolescents with overweight and 10.2% were classified as children/adolescents with obesity. Discussion: The high prevalence of obesity reported in the present study emphasizes the importance of applying different strategies to prevent childhood obesity, including encouraging physical activity, promoting healthier food options, and behavioral changes. Conclusion: The results presented in this study indicated the high prevalence of overweight/obesity among Jordanian adolescents and children, which must be tagged by healthcare planners and providers.

Keywords: CDC, obesity, childhood, Jordan

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Authors: C. Silvestros, K. Mellou, T. Georgakopoulou, A. Koustenis, E. Kokkinou, C. Botsi, A. Terzidis

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'PHILOS – Emergency health response to refugee crisis' is a programme of the Greek Ministry of Health, implemented by the Hellenic Center for Disease Control and Prevention (HCDCP) funded by the Asylum, Migration and Integration Fund (AMIF) of EU’s DG Migration and Home Affairs. One of the main objectives of the program is the immunization coverage of the target – population to assure the prevention of vaccine-preventable diseases. The program foresees vaccination needs assessment of children hosted at camps at the mainland and implementation of interventions to cover the vaccination gaps in co-operation with the Ministry of Health. The National Immunization Advisory Committee in Greece recommended that MMR (Measles, Mumps, and Rubella), PCV (Pneumococcal conjugate vaccine) and HEXA (diphtheria, tetanus, pertussis, polio, hepatitis B and Haemophilus influenzae type b) vaccines should be performed in priority. Recording was completed at 24 camps (May - June 2017); 3381 children (0-18 years) were recorded. The median number of children hosted at each camp was 95 (range: 5-553). For 68% of the children, the WHO vaccination booklet was available. 44%, 48.5% and 61% of the children were vaccinated with at least one dose of PCV, HEXA, and MMR, respectively. The proportion of vaccinated children for the three vaccines mentioned above is significantly lower for the remaining doses; PCV (second dose 8%, third dose 1.3%), HEXA (second dose 13%, third dose 2.7%, forth dose 0.1%) and MMR (second dose 23%). None of the 37 (10 from Afghanistan, 3 from Bangladesh, 23 from Pakistan, 1 from Syria) recorded unaccompanied children did not have a WHO vaccination booklet and were considered unvaccinated. There is no differentiation in vaccination coverage among different ethnicities. Massive catch up vaccination was performed at 4 camps, and 671 vaccinations were performed (245 PCV, 307 HEXA, and 119 MMR). Similar interventions are planned for all camps of the country. Recording reveled gaps in vaccination coverage of the population, mainly because of the mobility of the population, the influx of refugees- which is still ongoing- and new births. Mass vaccination campaigns are considered vital in order to increase vaccination coverage, and continuous efforts are needed in order all children living at the camps to have full access to the National Childhood Immunization Program.

Keywords: vaccine preventable, refugee–migrants camps, vaccination coverage, PCV, MMR, HEXA

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Authors: Aritra Das, Tanmay Mahapatra, Prabir Maharana, Sridhar Srikantiah

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In the absence of adequate well-equipped neonatal-care facilities serving rural Bihar, India, the practice of essential home-based newborn-care remains critically important for reduction of neonatal and infant mortality, especially among pre-term and small-for-gestational-age (Low-birth-weight) newborns. To improve the child health parameters in Bihar, ‘Very-Low-Birth-Weight (vLBW) Tracking’ intervention is being conducted by CARE India, since 2015, targeting public facility-delivered newborns weighing ≤2000g at birth, to improve their identification and provision of immediate post-natal care. To assess the effectiveness of the intervention, 200 public health facilities were randomly selected from all functional public-sector delivery points in Bihar and various outcomes were tracked among the neonates born there. Thus far, one pre-intervention (Feb-Apr’2015-born neonates) and three post-intervention (for Sep-Oct’2015, Sep-Oct’2016 and Sep-Oct’2017-born children) follow-up studies were conducted. In each round, interviews were conducted with the mothers/caregivers of successfully-tracked children to understand outcome, service-coverage and care-seeking during the neonatal period. Data from 171 matched facilities common across all rounds were analyzed using SAS-9.4. Identification of neonates with birth-weight ≤ 2000g improved from 2% at baseline to 3.3%-4% during post-intervention. All indicators pertaining to post-natal home-visits by frontline-workers (FLWs) improved. Significant improvements between baseline and post-intervention rounds were also noted regarding mothers being informed about ‘weak’ child – at the facility (R1 = 25 to R4 = 50%) and at home by FLW (R1 = 19%, to R4 = 30%). Practice of ‘Kangaroo-Mother-Care (KMC)’– an important component of essential newborn care – showed significant improvement in postintervention period compared to baseline in both facility (R1 = 15% to R4 = 31%) and home (R1 = 10% to R4=29%). Increasing trend was noted regarding detection and birth weight-recording of the extremely low-birth-weight newborns (< 1500 g) showed an increasing trend. Moreover, there was a downward trend in mortality across rounds, in each birth-weight strata (< 1500g, 1500-1799g and >= 1800g). After adjustment for the differential distribution of birth-weights, mortality was found to decline significantly from R1 (22.11%) to R4 (11.87%). Significantly declining trend was also observed for both early and late neonatal mortality and morbidities. Multiple regression analysis identified - birth during immediate post-intervention phase as well as that during the maintenance phase, birth weight > 1500g, children of low-parity mothers, receiving visit from FLW in the first week and/or receiving advice on extra care from FLW as predictors of survival during neonatal period among vLBW newborns. vLBW tracking was found to be a successful and sustainable intervention and has already been handed over to the Government.

Keywords: weak newborn tracking, very low birth weight babies, newborn care, community response

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Authors: Tuiana A. Aiusheeva, Sergey S. Tamozhnikov, Alexander E. Saprygin, Arina A. Antonenko, Valentina V. Stepanova, Natalia N. Tolstykh, Alexander N. Savostyanov

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Situation of choice is an important condition for the formation of essential character qualities of a child, such as being initiative, responsible, hard-working. We have studied the behavioral and EEG reactions in Russian schoolchildren during recognition of syntactic errors in emotionally colored sentences that describe the choice situation. Twenty healthy children (mean age 9,0±0,3 years, 12 boys, 8 girls) were examined. Forty sentences were selected for the experiment; the half of them contained a syntactic error. The experiment additionally had the hidden condition: 50% of the sentences described the children's own choice and were emotionally colored (positive or negative). The other 50% of the sentences described the forced-choice situation, also with positive or negative coloring. EEG were recorded during execution of error-recognition task. Reaction time and quality of syntactic error detection were chosen as behavioral measures. Event-related spectral perturbation (ERSP) was applied to characterize the oscillatory brain activity of children. There were two time-frequency intervals in EEG reactions: (1) 500-800 ms in the 3-7 Hz frequency range (theta synchronization) and (2) 500-1000 ms in the 8-12 Hz range (alpha desynchronization). We found out that behavioral and brain reactions in child brain during recognition of positive and negative sentences describing forced-choice situation did not have significant differences. Theta synchronization and alpha desynchronization were stronger during recognition of sentences with children's own choice, especially with negative coloring. Also, the quality and execution time of the task were higher for this types of sentences. The results of our study will be useful for improvement of teaching methods and diagnostics of children affective disorders.

Keywords: choice situation, electroencephalogram (EEG), emotionally colored sentences, schoolchildren

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Authors: Thirakorn Maneerat, Darunee Jongudomkarn, Jiraporn Khiewyoo

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Family quality of life of families who have persons with disabilities is a core concern in government services and community health promotion to deal with the multidimensionality of today’s health and societal issues. The number of families who have persons with disabilities in Thailand is gradually increasing. However, facilitation and evaluation of such family quality of life are limited by the lack of feasible tools. As a consequence, service provided for the families is not optimally facilitated and evaluated. This paper is part of a larger project which is aimed to develop a scale for measuring of family quality of life of families who have persons with developmental disabilities in Thailand, presenting the results of a three-round Delphi method involving 11 experts. The study was obtained during December 2013 to May 2014. The first round consisted of open-ended questionnaire and content analysis of the answers. The second round comprised a 5-point Likert scale structured questionnaire based on the first round analysis, with required the experts to identify the most relevant studied tool aspects. Their feedbacks levels of agreements were statistic analysis using the median, interquartile range and quartile deviation. The included criteria for items acceptance were greater than 3.50 of the median, lesser than 1.50 of interquartile range, and 0.65 or less of a quartile deviation. Finally, the proposed questionnaire was structured and validated by the experts in the third round. The results found that across all three rounds, the experts achieved 100% agreement on the five factors regarding to quality of life of a family who have person with disability were considered. These five factors with 38 items were included: 1) 10 items of family interactions; 2) 9 items of child rearing; 3) 7 items of physical and material resources; 4) 5 items of social-emotional status; and 7 items of disability-related services and welfare. Next step of the study was examined the construct validity by using factor analysis methods.

Keywords: tool development, family quality of life scale, person with disability, Delphi study

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Authors: Dilay Akgun Giray

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Basic insuffiency spaces of ASD diagnosed individuals can be grouped as cognitive and academic characteristics, communicational characteristics, social characteristics and emotional characteristics. Referring to the features that children with ASD exhibit on social events, it is clear they have limitations for several social skills. One of the evidence based practices which has been developed and used for the limitations of definite social skills for individuals with autism is “Social Story Method”. Social stories was designed and applied for the first time in 1991, a special education teacher, in order to acquire social skills and improve the existing social skills for children with ASD. Many studies have revealed the effectiveness of social stories for teaching the social skills to individuals with ASD. In this study, three social skills that the child ,who was diagnosed ASD, is going to need primarily will be studied with smart board. This study is multiple probe across-behavior design which is one of the single subject research models.

Keywords: authism spectrum disorders, social skills, social story, smart board

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Authors: Sukhdev Singh, Baljinder Singh Bal, Amandeep Singh, Kanchan Thappa

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A nation's future almost certainly rests on the future of its children, and a nation's wellbeing can be greatly improved by providing for the right upbringing of its children. Participating in physical education and sports programmes is crucial for reaching one's full potential. As we are all aware, sports have recently become incredibly popular on a global scale. Sports are continually becoming more and more popular, and this positive trend is probably going to last for some time to come. Motor abilities will provide more accurate information on the developmental process of children. Motor fitness is a component of physical fitness that includes strength, speed, flexibility, and agility, and is related to enhanced performance and the development of motor skills. In recent years, there has been increased interest in the differences in child growth between urban and rural environments. Differences in student growth, body dimensions, body composition, and fitness levels due to urban and rural environmental disparities have come into focus in recent years. The main aim of this study is to know the differentials of motor fitness components among the school children of rural and urban areas of the Jammu region. Material and Methods: In total, sixty male subjects (mean ± SD; age, 16.475 ± 1.0124 yrs.; height, 172.8 ± 2.0153 cm; Weight, 59.75 ± 3.628 kg) from the Jammu region took part in the study. A minimum sample size of 40 subjects was obtained and was derived from Rural (N1=20) and Urban (N2=20) school-going children. Statistical Applications: The Statistical Package for the Social Sciences (SPSS) version 14.0 was used for all analyses. The differences in the mean of each group for the selected variable were tested for the significance of difference by an independent samples t-test. For testing the hypotheses, the level of significance was set at 0.05. Results: Results revealed that there were significant differences of leg explosive strength (p=0.0040*), dynamic balance (p=0.0056*), and Agility (p=0.0176*) among the School Children of the rural and urban areas of the Jammu region. However, Results further revealed that there were not significant differences of cardio respiratory endurance (p=0.8612), speed (p=0.2231), Low Back/Hamstring Flexibility (p=0.6478), and Two Hand Coordination. (p= 0.0953) among the School Children of the rural and urban areas of the Jammu region. Conclusion: The results of study showed that there is significance difference between Rural and Urban School children of the Jammu region with regards to a variable," leg explosive strength, dynamic balance, Agility” and the there is no significance difference between Rural and Urban School children of the Jammu region with regards variable “cardio-respiratory endurance, speed, Low Back/Hamstring Flexibility, Two Hand Coordination”.

Keywords: motor fitness, rural areas, school children, urban areas

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Authors: Shikhar Shrivastava, Varun Khare

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Background: We are confronted by a society that is becoming more complex, more mobile, and more dysfunctional. Teen pregnancy, suicide, elopement, and the perusal of dangerous drugs have become commonplace. In addition, children do not settle their disputes as they once did. Guns and knives are quotidian. Therefore, it has been an exigent to have a "Juvenile Code" that would provide specific substantive and procedural rules for juveniles in the justice system. However, until the twentieth century, there was little difference between how the justice system treated adults and children. Age was considered only in terms of appropriate punishment and juveniles were eligible for the same punishment as adults. Findings: The increased prevalence and legislative support for specialized courts, Juvenile Justice Boards, including juvenile drug, mental health and truancy court programs, as well as diversion programs and evidence-based approaches into the fabric of juvenile justice are just a few examples of recent advances. In India, various measures were taken to prosecute young offenders who committed violent crimes as adults. But it was argued that equating juveniles with adult criminals was neither scientifically correct nor normatively defensible. It would defeat the very purpose of the justice system. Methodology and Conclusion: This paper attempts to bring forth the results of analytical and descriptive research that examined changing trends in juvenile justice legislation. It covers the investigative and inspective practices of police, the various administrative agencies who have roles in implementing the legislation, the courts, and the detention centers. In this paper we shall discuss about how the juvenile justice system is the dumping ground for many of a youths’ problem. The changing notions of justice, from retributive to restorative and rehabilitative shall be discussed. A comparative study of the Juvenile act in India and that of the U.S has been discussed. Specific social institutions and forces that explain juvenile delinquency are identified. In addition, various influences on juvenile delinquency are noted, such as families, schools, peer groups and communities. The text concludes by addressing socialization, deterrence, imprisonments, alternatives, restitution and preventions.

Keywords: juvenile, justice system, retributive, rehabilitative, delinquency

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Authors: Nawaf Al Khashram, Graham Arnold, Weijie Wang

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Background—Gait classifying allows clinicians to differentiate gait patterns into clinically important categories that help in clinical decision making. Reliable comparison of gait data between normal and patients requires knowledge of the gait parameters of normal children's specific age group. However, there is still a lack of the gait database for normal children of different ages. Objectives—The aim of this study is to investigate the kinematics of the lower limb joints during gait for normal children in different age groups. Methods—Fifty-three normal children (34 boys, 19 girls) were recruited in this study. All the children were aged between 5 to 16 years old. Age groups were defined as three types: young child aged (5-7), child (8-11), and adolescent (12-16). When a participant agreed to take part in the project, their parents signed a consent form. Vicon® motion capture system was used to collect gait data. Participants were asked to walk at their comfortable speed along a 10-meter walkway. Each participant walked up to 20 trials. Three good trials were analyzed using the Vicon Plug-in-Gait model to obtain parameters of the gait, e.g., walking speed, cadence, stride length, and joint parameters, e.g. joint angle, force, moments, etc. Moreover, each gait cycle was divided into 8 phases. The range of motion (ROM) angle of pelvis, hip, knee, and ankle joints in three planes of both limbs were calculated using an in-house program. Results—The temporal-spatial variables of three age groups of normal children were compared between each other; it was found that there was a significant difference (p < 0.05) between the groups. The step length and walking speed were gradually increasing from young child to adolescent, while cadence was gradually decreasing from young child to adolescent group. The mean and standard deviation (SD) of the step length of young child, child and adolescent groups were 0.502 ± 0.067 m, 0.566 ± 0.061 m and 0.672 ± 0.053 m, respectively. The mean and SD of the cadence of the young child, child and adolescent groups were 140.11±15.79 step/min, 129±11.84 step/min, and a 115.96±6.47 step/min, respectively. Moreover, it was observed that there were significant differences in kinematic parameters, either whole gait cycle or each phase. For example, RoM of knee angle in the sagittal plane in whole cycle of young child group is (65.03±0.52 deg) larger than child group (63.47±0.47 deg). Conclusion—Our result showed that there are significant differences between each age group in the gait phases and thus children walking performance changes with ages. Therefore, it is important for the clinician to consider age group when analyzing the patients with lower limb disorders before any clinical treatment.

Keywords: age group, gait analysis, kinematics, normal children

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Authors: Lindie Grebe

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This paper reports on a study that explored the strategizing practices of professional accountants in the mining industry, based on Jarratt and Stiles’ dominant strategizing practice models framework. Drawing on a strategy-as-practice perspective, the paper recognises qualified professional accountants in strategic management such as Chief Executive Officers, as strategy practitioners that perform their strategizing practices and praxis within a specific context. The main findings of this paper were produced through semi-structured individual interviews with accountants that perform strategy on a business level in the South African mining industry. Qualitative data were analysed through conversation analysis over two coding-cycles. Findings describe accountant strategists as practitioners who challenge the dominant business model when a disconnect seems to exist between international corporate level strategy and business level strategy in the South African mining industry. Accountant strategy practitioners described their dominant strategizing practice model as incremental change during strategic planning and as a lived experience during strategy implementation. Findings portrayed these strategists as taking initiative as strategy leaders in a dynamic and volatile environment to combine their accounting background with strategic management and challenge the dominant business model. Understanding how accountant strategists perform strategizing offers insight into the social practice of strategic management. This understanding contributes to the body of knowledge on strategizing in the South African mining industry. In addition, knowledge on the transformation of accountants as strategists could provide valuable practice relevant insights for accounting educators and the accounting profession alike.

Keywords: accountant strategists, dominant strategizing practice models framework, mining industry, strategy-as-practice

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Authors: Venera Goxha

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Property and inheritance rights for women whose husbands were killed or disappeared during the last war in Kosovo is the purpose of this study, respectively, the access of these women to family real estate. The case study is about women whose husbands were killed or disappeared during the last war in Kosovo and who, on this occasion, earned the title of 'widow'.The research is conducted in the villages of Krusha e Vogël - Municipality of Prizren, and Krusha e Madhe - Municipality of Rahovec, one of the most suffered villages from the recent war in Kosovo. Krusha e Vogël, as a result of the recent war, has 113 male victims, or 70% of all men from the age of 13 to the age of 77, leaving widows and orphans. In the village of Krusha e Madhe, 243 Albanians were massacred by Serbs living in the same village, leaving widows and orphaned children alive. According to these data, most of the Krushian families, as heads of households, have surviving wives and widows. Therefore, being the head of the family and facing a mountain of challenges, such as economic, social, and cultural, the issue of how these women have approached the property and family heritage is considered. The equal right to property and inheritance is a right that is guaranteed to women with all legislation in force, starting from the Constitution of the Republic of Kosovo onwards. Article 7 of the Constitution of Kosovo and the subsequent legal framework recognizes the equality of women and the equal division of property between heirs, daughters, and sons. However, some of the legislation does not successfully reflect the current reality in Kosovo. All these ambiguities follow from the ‘patriarchal law’ of the Albanians in the time of the early Middle Ages, later known as the ‘Kanun of Lekë Dukagjini’. At the time it was written and applied, it weighted the law in force, but later over time, it passed into tradition, culture, and mentality. The Kanun of Lekë Dukagjini, in no context, has treated women equally to men. The female, according to the Kanun, was a working tool, a creature to be born, to work, to carry, to raise children, and to remain faithful to the husband even when the husband is not faithful.

Keywords: property rights, heritage, widows, code

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Authors: Maria Magdy Danial Riad

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Background: In the United Kingdom (UK), pharmacists' roles have expanded considerably in recent decades to encompass clinical practice through more direct patient care. However, dispensing and compounding remain core activities for pharmacists. A lack of marketed preparations for species-specific animal use results in veterinary pharmacy practice compounding, retaining its prominence. Current participation by pharmacists to support this sphere of practice would appear to be minimal. Objectives: This study was undertaken to determine the opinions and views toward the practice of veterinary pharmacy by a cross-sectional group of pharmacists. Methods: Research data were collected via a self-administered survey questionnaire distributed at the 2012 annual conference of the Royal Pharmaceutical Society. Sampling was purposive, with a random distribution of the questionnaire to pharmacists during the conference sessions. Key findings: Interaction by pharmacists with veterinary pharmacies is currently minimal, primarily due to a lack of knowledge of veterinary medicines. Respondents revealed a lack of veterinary pharmacy courses during their undergraduate studies. This has led to situations where some veterinary prescriptions are dispensed without adequate checks being performed by the pharmacist. Pharmacists, on occasion, do not dispense veterinary prescriptions presented to them due to insufficient knowledge of veterinary medicines and/or a lack of consultable reference sources. The effect on practice is that pharmacists do not always participate as fully as would seem logical. Conclusions: Pharmacists' participation in veterinary pharmacy is limited by a lack of knowledge of veterinary medicines, mostly resulting from inadequate tuition on veterinary pharmacy during their initial education.

Keywords: veterinary pharmacy, veterinary medicines, pharmacy education, pharmacists continuing professional development

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Authors: Sarah Mhae Diaz, Erika Anna De Leon, Jacklin Alwil Cartagena, Geordan Caruncong, Micah Riezl Gonzales

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This study examined the intervention of threat and surveillance on the obedience of 100 preschool children through a task variable experiment replicated from the previous studies of Higbee (1979), and Chua, J., Chua, M., & Pico (1983). Nowadays, obedience among Filipino children to authority is disregarded since they are more outspoken and rebel due to social influences. With this, aside from corporal punishment, threat and surveillance became a mean of inducing obedience. Threat, according to the Dissonance Theory, can give attitudinal change. On the other hand, surveillance, according to the Theory of Social Facilitation, can either contribute to the completion or failure to do a task. Through a 2x2 factorial design, results show; (1) threat (F(1,96) = 12.487, p < 0.05) and (2) surveillance (F(1,96)=9.942, p<.05) had a significant main effect on obedience, suggesting that the Dissonance Theory and Theory of Social Facilitation is respectively true in the study. On the other hand, (3) no interaction (F(1,96)=1.303, p > .05) was seen since threat and surveillance both have a main effect that could be positive or negative, or could be because of their complementary property as supported by the post-hoc results. Also, (4) most effective commanding style is threat and surveillance setting (M = 30.04, SD = 7.971) due to the significant main effect of the two variables. With this, in the Filipino Setting, threat and surveillance has proven to be a very effective strategy to discipline and induce obedience from a child.

Keywords: experimental study, obedience, preschool children, surveillance, threat

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Authors: Ambika Perisamy, Asyriawati binte Mohd Hamzah

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The focus of this presentation is to discuss teacher professional development (TPD) through the use of technology. TPD is necessary to prepare teachers for future challenges they will face throughout their careers and to develop new skills and good teaching practices. We will also be discussing current issues in embracing technology in the field of early childhood education and the impact on the professional development of teachers. Participants will also learn to apply teaching and learning practices through the use of technology. One major objective of this presentation is to coherently fuse practical, technology and theoretical content. The process begins by concretizing a set of preconceived ideas which need to be joined with theoretical justifications found in the literature. Technology can make observations fairer and more reliable, easier to implement, and more preferable to teachers and principals. Technology will also help principals to improve classroom observations of teachers and ultimately improve teachers’ continuous professional development. Video technology allows the early childhood teachers to record and keep the recorded video for reflection at any time. This will also provide opportunities for her to share with her principals for professional dialogues and continuous professional development plans. A total of 10 early childhood teachers and 4 principals were involved in these efforts which identified and analyze the gaps in the quality of classroom observations and its co relation to developing teachers as reflective practitioners. The methodology used involves active exploration with video technology recordings, conversations, interviews and authentic teacher child interactions which forms the key thrust in improving teaching and learning practice. A qualitative analysis of photographs, videos, transcripts which illustrates teacher’s reflections and classroom observation checklists before and after the use of video technology were adopted. Arguably, although PD support can be magnanimously strong, if teachers could not connect or create meaning out of the opportunities made available to them, they may remain passive or uninvolved. Therefore, teachers must see the value of applying new ideas such as technology and approaches to practice while creating personal meaning out of professional development. These video recordings are transferable, can be shared and edited through social media, emails and common storage between teachers and principals. To conclude the importance of reflective practice among early childhood teachers and addressing the concerns raised before and after the use of video technology, teachers and principals shared the feasibility, practical and relevance use of video technology.

Keywords: early childhood education, reflective, improve teaching and learning, technology

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Authors: Orkide Donma, Mustafa M. Donma

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Obesity is a low-grade inflammatory disease and may lead to health problems such as hypertension, dyslipidemia, diabetes. It is also associated with important risk factors for cardiovascular diseases. This requires the detailed evaluation of obesity, particularly in children. The aim of this study is to enlighten the potential associations between lipid ratios and obesity indices and to introduce those with discriminating features among children with obesity and metabolic syndrome (MetS). A total of 408 children (aged between six and eighteen years) participated in the scope of the study. Informed consent forms were taken from the participants and their parents. Ethical Committee approval was obtained. Anthropometric measurements such as weight, height as well as waist, hip, head, neck circumferences and body fat mass were taken. Systolic and diastolic blood pressure values were recorded. Body mass index (BMI), diagnostic obesity notation model assessment index-II (D2 index), waist-to-hip, head-to-neck ratios were calculated. Total cholesterol, triglycerides, high-density lipoprotein cholesterol (HDLChol), low-density lipoprotein cholesterol (LDLChol) analyses were performed in blood samples drawn from 110 children with normal body weight, 164 morbid obese (MO) children and 134 children with MetS. Age- and sex-adjusted BMI percentiles tabulated by World Health Organization were used to classify groups; normal body weight, MO and MetS. 15^th-to-85^th percentiles were used to define normal body weight children. Children, whose values were above the 99th percentile, were described as MO. MetS criteria were defined. Data were evaluated statistically by SPSS Version 20. The degree of statistical significance was accepted as p≤0.05. Mean±standard deviation values of BMI for normal body weight children, MO children and those with MetS were 15.7±1.1, 27.1±3.8 and 29.1±5.3 kg/m², respectively. Corresponding values for the D2 index were calculated as 3.4±0.9, 14.3±4.9 and 16.4±6.7. Both BMI and D2 index were capable of discriminating the groups from one another (p≤0.01). As far as other obesity indices were considered, waist-to hip and head-to-neck ratios did not exhibit any statistically significant difference between MO and MetS groups (p≥0.05). Diagnostic obesity notation model assessment index-II was correlated with the triglycerides-to-HDL-C ratio in normal body weight and MO (r=0.413, p≤0.01 and r=0.261, (p≤0.05, respectively). Total cholesterol-to-HDL-C and LDL-C-to-HDL-C showed statistically significant differences between normal body weight and MO as well as MO and MetS (p≤0.05). The only group in which these two ratios were significantly correlated with waist-to-hip ratio was MetS group (r=0.332 and r=0.334, p≤0.01, respectively). Lack of correlation between the D2 index and the triglycerides-to-HDL-C ratio was another important finding in MetS group. In this study, parameters and ratios, whose associations were defined previously with increased cardiovascular risk or cardiac death have been evaluated along with obesity indices in children with morbid obesity and MetS. Their profiles during childhood have been investigated. Aside from the nature of the correlation between the D2 index and triglycerides-to-HDL-C ratio, total cholesterol-to-HDL-C as well as LDL-C-to- HDL-C ratios along with their correlations with waist-to-hip ratio showed that the combination of obesity-related parameters predicts better than one parameter and appears to be helpful for discriminating MO children from MetS group.

Keywords: children, lipid ratios, metabolic syndrome, obesity indices

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Authors: Morenikeji Aliu Balaji

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Gender inequality is seen as persistent discrimination of one group of people based gender, and it manifests itself differently according to race, culture, politics, country and economic situation. Multiple explanations have been offered for gender differences in literacy skill development. Three prominent explanations that precipitated the gender differences are; biological, where the assumption is that differential brain structures and hemispheric activation patterns cause the sexes to be hardwired differently for reading, with girls developing the cognitive skills associated with reading before boys. Secondly, schooling favour girls and ‘girly’ behaviour, and that boys are, as a result, lagging behind on several behavioural, social and academic measures and thirdly, cultural influences, where literacy is defined as a feminine characteristic – propagated by an overrepresentation of female teachers – and that modern culture steers boys towards activities such as sport and computers. Therefore the study investigated the influence of gender inequality on pre – primary school children literacy skills development in Ojo Local Government Area, Lagos State. Descriptive survey research design was adopted for the study. 100 pre-primary school teachers were involved in the study. A self-designed instrument was used for data collection titled ‘Influence of Gender Inequality on Literacy Skill Development in Children Questionnaire (IGILSDCQ)’. The instrument was validated and tested for reliability. The reliability index for IGILSDCQ (α = 0.79). Five research questions were answered using descriptive (frequency count, simple percentage, mean and standard deviation). The findings showed that that gender inequality to some extent influence children phonemic awareness (WA=1.76), the extent to which gender inequality influence children awareness of print is high (WA=2.8), gender inequality to some extent influence children vocabulary development (WA = 2.4), the extent to which gender inequality influence children speaking skill development is high (WA = 2.5) and lastly, the extent to which gender inequality influence children comprehension ability is high (WA = 2.5). It was recommended among others that effort by the school administrators is necessary in the provision of reading materials and literacy skill development packages that are both male-oriented and female-oriented.

Keywords: pre-primart, literacy, awareness, phonemic, gender

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Authors: Aravind Bagade Shankaranarayana, Parampalli Geetha, Pallavi Gupta

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Objective: This study intends to evaluate sexual dysfunction qualitatively and quantitatively in males suffering from primary obesity through a single centered, observational study. Design and Methods: Sexual function of 33 obese males from the outpatient department of the hospital was assessed using IIEF questionnaire and semen analysis and the results were assessed for statistical significance. Results: A varying degree of sexual dysfunction was observed in four out of five areas of sexual functioning viz. erectile function (p<0.02), orgasmic function (p<0.02), sexual desire (p<0.08) and overall satisfaction (p<0.000) in obese individuals. Statistically significant dysfunction was not observed in intercourse satisfaction. Semen analysis was normal in 19 individuals (63.3%) and abnormal in 11 individuals (36.7%), with statistically insignificant p value 0.144, suggesting mild to moderate variation in semen parameters. Conclusions: Varying degree of sexual dysfunction is present in obese males, suggesting that obesity has a possible role in reducing the quality of sexual functioning in males as indicated in the classical Ayurvedic literature.

Keywords: erectile dysfunction, krucchra vyavaya, obesity, sthoulya

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Authors: Chiou-Shiue Ko, Pei-Fang Wu, Shu-hsien Tseng

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The researchers adopted two-year action research to investigate the professional collaborative process and development in learning communities for both early childhood and early childhood special education teachers on implementing the children’s school success curriculum framework. The participating teachers were recruited from three preschool sites for this current study. Research data were collected from multiple methods in order to ensure the data quality and validity. The results showed that participating educators had achieved professional growth, and they became more aware of teaching intentions and the preparation for the curriculum. Teachers in this research become more child-focused in teaching and create opportunities for children to participate in classroom activities and routines. The researcher also finds teachers’ participation levels were driven by each individual personality; during professional growth, some teachers are more proactive and reflective, and some are not. According to the research findings, suggestions for future studies and practices are provided.

Keywords: children’s school success curriculum framework, early childhood special education, preschool education, professional learning community

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Authors: Muhammad Farooq Baig

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Objective: The purpose of this study was to compare results obtained using a single fecal specimen for O&P examination, direct immunofluorescence assay (DFA), and two conventional staining methods. Design: Hundred and fifty children fecal specimens were collected and examined by each method. The O&P and the DFA were used as the reference method. Setting: The study was performed at the laboratory in the Basic Medical Science Institute JPMC Karachi. Patients or Other Participants: The fecal specimens were collected from children with a suspected Giardia lamblia infection. Main Outcome Measures: The amount of agreement and disagreement between methods.1) Presence of giardiasis in our population. 2) The sensitivity and specificity of each method. Results: There was 45(30%) positive 105 (70%) negative on DFA, 41 (27.4%) positive 109 (72.6%) negative on iodine and 34 (22.6%) positive 116(77.4%) on saline method. The sensitivity and specificity of DFA in comparision to iodine were 92.2%, 92.7% respectively. The sensitivity and specificity of DFA in comparisoin to saline method were 91.2%, 87.9% respectively. The sensitivity of iodine method and saline method in compariosn to DFA were 82.2%, 68.8% respectively. There is mark diffrence in sensitivity of DFA to conventional method. Conclusion: The study supported findings of other investigators who concluded that DFA method have the greater sensitivity. The immunologic methods were more efficient and quicker than the conventional O&P method.

Keywords: direct immunofluorescence assay (DFA), ova and parasite (O&P), Giardia lamblia, children, medical science

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Authors: Mohammad Amjad, Muhammad Iqbal Zafar, Ashfaq Ahmed Maan, Muhammad Tayyab Kashif

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Obesity is an abnormal physical condition where an increased and undesirable fat accumulates in the human body. Obesity is an international phenomenon. In the present study, 12 schools were randomly selected from each district considering the areas i.e. Elite Private Schools in the private sector, Government schools in urban areas and Government schools in rural areas. Interviews were conducted with male students studying in grade 5 to grade 9 in each school. The sample size was 600 students; 300 from Faisalabad district and 300 from Rawalpindi district in Pakistan. A well-structured and pre-tested questionnaire was used for data collection. The calibrated scales were used to attain the heights and weights of the respondents. Obesity of school-going children depends on family types, family size, family history, junk food consumption, mother’s education, weekly time spent in walking, and sports facility at school levels. Academic performance, physical health and psychological health of school going children are affected with obesity. Concrete steps and policies could minimize the incidence of obesity in children in Pakistan.

Keywords: body mass index, cardiovascular disease, fast food, morbidity, overweight

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Authors: Ricardo A. Martins, Matheus S. da Silva, Gabriel H. F. Iarossi, Helen C. M. Senefonte, Cinthyan R. S. C. de Barbosa

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This paper is the development of a concept of the man/robot interaction. More accurately in developing of an autistic child that have more troubles with interaction, here offers an efficient solution, even though simple; however, less studied for this public. This concept is based on code applied thought out the Lego NXT kit, built for the interpretation of the robot, thereby can create this interaction in a constructive way for children suffering with Autism.

Keywords: lego NXT, interaction, BricX, autismo, ANN (Artificial Neural Network), MLP back propagation, hidden layers

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Authors: Chieh-Ning Lan, Tzu-Shin Lin, Kun-Hao Lin

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Chinese handwriting skill is one of the basic skills of school-age children in Taiwan, which helps them to learn most academic subjects. Differ from the alphabetic language system, Chinese written language is a logographic script with a complicated 2-dimensional character structure as a morpheme. Visuospatial ability places a great role in Chinese handwriting to maintain good proportion and alignment of these interwoven strokes. In Taiwan, school-age students faced the challenge to recognize and write down Chinese characters, especially in children with written expression difficulties (CWWDs). In this study, we developed an instructional app to help CWWDs practice Chinese handwriting skills, and we aimed to apply the mobile assisted language learning (MALL) system in clinical writing strategies. To understand the feasibility and satisfaction of this auxiliary instructional writing app, we investigated the perceive and value both from school-age students and the clinic therapists, who were the target users and the experts. A group of 8 elementary school children, as well as 8 clinic therapists, were recruited. The school-age students were asked to go through a paper-based instruction and were asked to score the visual expression based on their graphic preference; the clinic therapists were asked to watch an introductive video of this instructional app and complete the online formative questionnaire. In the results of our study, from the perspective of user interface design, school-age students were more attracted to cartoon-liked pictures rather than line drawings or vivid photos. Moreover, compared to text, pictures which have higher semantic transparency were more commonly chosen by children. In terms of the quantitative survey from clinic therapists, they were highly satisfied with this auxiliary instructional writing app, including the concepts such as visual design, teaching contents, and positive reinforcement system. Furthermore, the qualitative results also suggested comprehensive positive feedbacks on the teaching contents and the feasibility of integrating the app into clinical treatments. Interestingly, we found that clinic therapists showed high agreement in approving CWWDs’ writing ability with using orthographic knowledge; however, in the qualitative section, clinic therapists pointed out that CWWDs usually have relative insufficient background knowledge in Chinese character orthographic rules, which because it is not a key-point in conventional handwriting instruction. Also, previous studies indicated that conventional Chinese reading and writing instructions were lacked of utilizing visual-spatial arrangement strategies. Based on the sharing experiences from all participants, we concluded several interesting topics that are worth to dedicate to in the future. In this undergoing app system, improvement and revision will be applied into the system design, and will establish a better and more useful instructional system for CWWDs within their treatments; enlightened by the opinions related to learning content, the importance of orthographic knowledge in Chinese character recognition should be well discussed and involved in CWWDs’ intervention in the future.

Keywords: auxiliary instructional app, children with writing difficulties, Chinese handwriting, orthographic knowledge

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Authors: Abd Aziz Bin Abd Shukor, Eftah Binti Moh Hj Abdullah

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This case study aims to identify teachers’ perception as regards integrity in School-Ba sed Assessment (PBS) practice. This descriptive study involved 9 teachers from 4 secondary schools in 3 districts in the state of Perak. The respondents had undergone an integrity in PBS Practice interview using a focused group discussion method. The overall findings showed that the teachers believed that integrity in PBS practice could be achieved by adjusting the teaching methods align with learning objectives and the students’ characteristics. Many teachers, parents and student did not understand the best practice of PBS. This would affect the integrity in PBS practice. Teachers did not emphasis the principles and ethics. Their integrity as an innovative public servant may also be affected with the frequently changing assessment system, lack of training and no prior action research. The analysis of findings showed that the teachers viewed that organizational integrity involving the integrity of PBS was difficult to be implemented based on the expectations determined by Malaysia Ministry of Education (KPM). A few elements which assisted in the achievement of PBS integrity were the training, students’ understanding, the parents’ understanding of PBS, environment (involving human resources such as support and appreciation and non-human resources such as technology infrastructure readiness and media). The implications of this study show that teachers, as the PBS implementers, have a strong influence on the integrity of PBS. However, the transformation of behavior involving PBS integrity among teachers requires the stabilisation of support and infrastructure in order to enable the teachers to implement PBS in an ethical manner.

Keywords: assessment integrity, integrity, perception, school-based assessment

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Authors: Claerchille Jhulia Robin

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This paper discusses the perspective of ESL learners towards pronunciation instruction. It sought to determine how these learners view the type of feedback their speech teacher gives and its impact on their own classroom practice of providing feedback. This study utilized a quantitative-qualitative approach to the problem. The respondents were Education students majoring in English. A survey questionnaire and interview guide were used for data gathering. The data from the survey was tabulated using frequency count and the data from the interview were then transcribed and analyzed. Results showed that ESL learners favor immediate corrective feedback and they do not find any issue in being corrected in front of their peers. They also practice the same corrective technique in their own classroom.

Keywords: ESL, feedback, learner perspective, pronunciation instruction

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Authors: Mastewal Endeshaw Getnet

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Imunization is one of the most cost-effective and extensively adopted public health strategies for preventing child disability and mortality. Expanded Program on Immunization (EPI) was launched in 1974 with the goal of providing life-saving vaccines to all children in all and building on the success of the global smallpox eradication program. According to World Health Organization report, by 2020, all countries should have achieved 90% vaccination coverage. Many developing countries still have not achieved the goal. Ethiopia is one of Africa's developing countries. The Ethiopian Ministry of health (MoH) launched the EPI program in 1980, with the goal of achieving 90% coverage among children under the age of 1 year by 1990. Among children aged 12-23 months, complete immunization coverage was 47% based on the Ethiopian Demographic and Health Survey (EDAS) 2019 report. The coverage varies depending on the administrative region, ranging from 21% in Afar region to 89% in Amhara region, Ethiopia. Therefore, identifying risk factors for incomplete immunization among children is a key challenge, particularly in Ethiopia, which has a large geographical diversity and a predicted with 119.96 million projected population size in the year 2022. Despite its critical and challenging issue, this issue is still open and has not yet been fully investigated. Recently, a few previous studies have been conducted on the assessment of incomplete children immunization determinants. However, the majority of the studies were cross-sectional surveys that assessed only EPI coverage. Motivated by the above investigation, this study focuses on investigating determinants associated with incomplete immunization among Ethiopian children to facilitate the rate of full immunization coverage. Moreover, we consider both individual immunization and service performance-related factors to investigate incomplete children's determinants. Consequently, we adopted an ecological model in this study. Individual and environmental factors are combined in the Ecological model, which provides multilevel framework for exploring different determinants related with health behaviors. The Ethiopian Demographic and Health Survey will be used as a source of data from 2021 to achieve the objective of this study. The findings of this study will be useful to the Ethiopian government and other public health institutes to improve the coverage score of childhood immunization based on the identified risk determinants.

Keywords: incomplete immunization, children, ethiopia, ecological model

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Authors: Ian Campbell, Gillian Mitchell, Paul James, Na Li, Ella Thompson

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The genetic cause of the majority of multiple-case breast cancer families remains unresolved. Next generation sequencing has emerged as an efficient strategy for identifying predisposing mutations in individuals with inherited cancer. We are conducting whole exome sequence analysis of germ line DNA from multiple affected relatives from breast cancer families, with the aim of identifying rare protein truncating and non-synonymous variants that are likely to include novel cancer predisposing mutations. Data from more than 200 exomes show that on average each individual carries 30-50 protein truncating mutations and 300-400 rare non-synonymous variants. Heterogeneity among our exome data strongly suggest that numerous moderate penetrance genes remain to be discovered, with each gene individually accounting for only a small fraction of families (~0.5%). This scenario marks validation of candidate breast cancer predisposing genes in large case-control studies as the rate-limiting step in resolving the missing heritability of breast cancer. The aim of this study is to screen genes that are recurrently mutated among our exome data in a larger cohort of cases and controls to assess the prevalence of inactivating mutations that may be associated with breast cancer risk. We are using the Agilent HaloPlex Target Enrichment System to screen the coding regions of 168 genes in 1,000 BRCA1/2 mutation-negative familial breast cancer cases and 1,000 cancer-naive controls. To date, our interim analysis has identified 21 genes which carry an excess of truncating mutations in multiple breast cancer families versus controls. Established breast cancer susceptibility gene PALB2 is the most frequently mutated gene (13/998 cases versus 0/1009 controls), but other interesting candidates include NPSR1, GSN, POLD2, and TOX3. These and other genes are being validated in a second cohort of 1,000 cases and controls. Our experience demonstrates that beyond PALB2, the prevalence of mutations in the remaining breast cancer predisposition genes is likely to be very low making definitive validation exceptionally challenging.

Keywords: predisposition, familial, exome sequencing, breast cancer

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