Search results for: intellectual humility
33 Previously Undescribed Cardiac Abnormalities in Two Unrelated Autistic Males with Causative Variants in CHD8
Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova
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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype
Procedia PDF Downloads 8632 Developing an Innovative General Foundation Programme (GFP) and an IELTS Centre in a New Military College
Authors: Jessica Peart, Sarim Al Zubaidy
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This paper examines the main dialogic and reformative aspects that have constituted the developing implementation of an English language module in a common pre-sessional program in Oman, the General Foundation Program (GFP), at the new Military Technological College (MTC), in Oman’s capital, muscat. The MTC is the first of its kind in the country to merge military with academic training and has been running programs since September 2013 over five trimesters to date, receiving external validation and accreditation from the University of Portsmouth (UoP), UK. From this starting point, We will provide context on the parameters that necessitated delivery of this common but specially tailored pre-sessional program at the MTC and outline in detail how the English module with integrated key study skills and personal tutoring support was initially conceived before operations commenced and cooperation between all stakeholders took practical shape. This enquiry traces how stakeholders from students to faculty, college boards and collaborative university partners have considered and redefined the in part static and dynamic boundaries of their larger and smaller scale stakes. With regard to the widely held recognition that pre-sessional students require training in transferable study skills in order to succeed at university, we will chart the subsequent and ongoing adjustments made to the generic, pastoral and integrated elements of that program. Driving this concerted effort has been at base the need for a GFP concerned with three criteria for incoming MTC students cadets, namely to develop candidate’s rounded capacity for intellectual, technical and physical skill as both students and cadets, to generate linguistic proficiency and discerning use of appropriate language registers and to allow personal and collective time for adjustment to a multilayered, brand new environment, while also working within a regulated timeline for academic progression to the MTC diploma or degree levels. The English Department teaching staff’s facilitation of the initial program’s methodologies and timeframe for the GFP English module has garnered a keen and diverse sense of the holistic student cadet experience, which a range of alterations to the program demonstrate. These include alterations to the class types and overall program duration as well as greater multiplicity of exposure within learning environments. In surveying the impact of these composite maneuvers and challenges within a proactive and evolving context of teaching and learning, it is finally demonstrated how student cadet levels of productivity and self-reliance on the one hand and retention issues on the other are being gainfully steered towards progression within a framework for inclusive reciprocal dialogue, gathering thereby civilian and military backgrounds toward uniquely united ends.Keywords: English module transferable skills, faculty dialogue, governance structure, overarching regulatory agencies
Procedia PDF Downloads 27631 L1 Poetry and Moral Tales as a Factor Affecting L2 Acquisition in EFL Settings
Authors: Arif Ahmed Mohammed Al-Ahdal
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Poetry, tales, and fables have always been a part of the L1 repertoire and one that takes the learners to another amazing and fascinating world of imagination. The storytelling class and the genre of poems are activities greatly enjoyed by all age groups. The very significant idea behind their inclusion in the language curriculum is to sensitize young minds to a wide range of human emotions that are believed to greatly contribute to building their social resilience, emotional stability, empathy towards fellow creatures, and literacy. Quite certainly, the learning objective at this stage is not language acquisition (though it happens as an automatic process) but getting the young learners to be acquainted with an entire spectrum of what may be called the ‘noble’ abilities of the human race. They enrich their very existence, inspiring them to unearth ‘selves’ that help them as adults and enable them to co-exist fruitfully and symbiotically with their fellow human beings. By extension, ‘higher’ training in these literature genres shows the universality of human emotions, sufferings, aspirations, and hopes. The current study is anchored on the Reader-Response-Theory in literature learning, which suggests that the reader reconstructs work and re-enacts the author's creative role. Reiteratingly, literary works provide clues or verbal symbols in a linguistic system, widely accepted by everyone who shares the language, but everyone reads their own life experiences and situations into them. The significance of words depends on the reader, even if they have a typical relationship. In every reading, there is an interaction between the reader and the text. The process of reading is an experience in which the reader tries to comprehend the literary work, which surpasses its full potential since it provides emotional and intellectual reactions that are not anticipated from the document but cannot be affirmed just by the reader as a part of the text. The idea is that the text forms the basis of a unifying experience. A reinterpretation of the literary text may transform it into a guiding principle to respond to actual experiences and personal memories. The impulses delivered to the reader vary according to poetry or texts; nevertheless, the readers differ considerably even with the same material. Previous studies confirm that poetry is a useful tool for learning a language. This present paper works on these hypotheses and proposes to study the impetus given to L2 learning as a factor of exposure to poetry and meaningful stories in L1. The driving force behind the choice of this topic is the first-hand experience that the researcher had while teaching a literary text to a group of BA students who, as a reaction to the text, initially burst into tears and ultimately turned the class into an interactive session. The study also intends to compare the performance of male and female students post intervention using pre and post-tests, apart from undertaking a detailed inquiry via interviews with college learners of English to understand how L1 literature plays a great role in the acquisition of L2.Keywords: SLA, literary text, poetry, tales, affective factors
Procedia PDF Downloads 7730 The Product Innovation Using Nutraceutical Delivery System on Improving Growth Performance of Broiler
Authors: Kitti Supchukun, Kris Angkanaporn, Teerapong Yata
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The product innovation using a nutraceutical delivery system on improving the growth performance of broilers is the product planning and development to solve the antibiotics banning policy incurred in the local and global livestock production system. Restricting the use of antibiotics can reduce the quality of chicken meat and increase pathogenic bacterial contamination. Although other alternatives were used to replace antibiotics, the efficacy was inconsistent, reflecting on low chicken growth performance and contaminated products. The product innovation aims to effectively deliver the selected active ingredients into the body. This product is tested on the pharmaceutical lab scale and on the farm-scale for market feasibility in order to create product innovation using the nutraceutical delivery system model. The model establishes the product standardization and traceable quality control process for farmers. The study is performed using mixed methods. Starting with a qualitative method to find the farmers' (consumers) demands and the product standard, then the researcher used the quantitative research method to develop and conclude the findings regarding the acceptance of the technology and product performance. The survey has been sent to different organizations by random sampling among the entrepreneur’s population including integrated broiler farm, broiler farm, and other related organizations. The mixed-method results, both qualitative and quantitative, verify the user and lead users' demands since they provide information about the industry standard, technology preference, developing the right product according to the market, and solutions for the industry problems. The product innovation selected nutraceutical ingredients that can solve the following problems in livestock; bactericidal, anti-inflammation, gut health, antioxidant. The combinations of the selected nutraceutical and nanostructured lipid carriers (NLC) technology aim to improve chemical and pharmaceutical components by changing the structure of active ingredients into nanoparticle, which will be released in the targeted location with accurate concentration. The active ingredients in nanoparticle form are more stable, elicit antibacterial activity against pathogenic Salmonella spp and E.coli, balance gut health, have antioxidant and anti-inflammation activity. The experiment results have proven that the nutraceuticals have an antioxidant and antibacterial activity which also increases the average daily gain (ADG), reduces feed conversion ratio (FCR). The results also show a significant impact on the higher European Performance Index that can increase the farmers' profit when exporting. The product innovation will be tested in technology acceptance management methods from farmers and industry. The production of broiler and commercialization analyses are useful to reduce the importation of animal supplements. Most importantly, product innovation is protected by intellectual property.Keywords: nutraceutical, nano structure lipid carrier, anti-microbial drug resistance, broiler, Salmonella
Procedia PDF Downloads 17829 Formation of Science Literations Based on Indigenous Science Mbaru Niang Manggarai
Authors: Yuliana Wahyu, Ambros Leonangung Edu
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The learning praxis that is proposed by 2013 Curriculum (K-13) is no longer school-oriented as a supply-driven, but now a demand-driven provider. This vision is connected with Jokowi-Kalla Nawacita program to create a competitive nation in the global era. Competition is a social fact that must be faced. Therefore the curriculum will design a process to be the innovators and entrepreneurs.To get this goal, K-13 implements the character education. This aims at creating the innovators and entrepreneurs from an early age (primary school). One part of strengthening it is literacy formations (reading, numeracy, science, ICT, finance, and culture). Thus, science literacy is an integral part of character education. The above outputs are only formed through the innovative process through intra-curricular (blended learning), co-curriculer (hands-on learning) and extra-curricular (personalized learning). Unlike the curriculums before that child cram with the theories dominating the intellectual process, new breakthroughs make natural, social, and cultural phenomena as learning sources. For example, Science in primary schoolsplaceBiology as the platform. And Science places natural, social, and cultural phenomena as a learning field so that students can learn, discover, solve concrete problems, and the prospects of development and application in their everyday lives. Science education not only learns about facts collection or natural phenomena but also methods and scientific attitudes. In turn, Science will form the science literacy. Science literacy have critical, creative, logical, and initiative competences in responding to the issues of culture, science and technology. This is linked with science nature which includes hands-on and minds-on. To sustain the effectiveness of science learning, K-13 opens a new way of viewing a contextual learning model in which facts or natural phenomena are drawn closer to the child's learning environment to be studied and analyzed scientifically. Thus, the topic of elementary science discussion is the practical and contextual things that students encounter. This research is about to contextualize Science in primary schools at Manggarai, NTT, by placing local wisdom as a learning source and media to form the science literacy. Explicitly, this study discovers the concept of science and mathematics in Mbaru Niang. Mbaru Niang is a forgotten potentials of the centralistic-theoretical mainstream curriculum so far. In fact, the traditional Manggarai community stores and inherits much of the science-mathematical indigenous sciences. In the traditional house structures are full of science and mathematics knowledge. Every details have style, sound and mathematical symbols. Learning this, students are able to collaborate and synergize the content and learning resources in student learning activities. This is constructivist contextual learning that will be applied in meaningful learning. Meaningful learning allows students to learn by doing. Students then connect topics to the context, and science literacy is constructed from their factual experiences. The research location will be conducted in Manggarai through observation, interview, and literature study.Keywords: indigenous science, Mbaru Niang, science literacy, science
Procedia PDF Downloads 20928 Adapting Inclusive Residential Models to Match Universal Accessibility and Fire Protection
Authors: Patricia Huedo, Maria José Ruá, Raquel Agost-Felip
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Ensuring sustainable development of urban environments means guaranteeing adequate environmental conditions, being resilient and meeting conditions of safety and inclusion for all people, regardless of their condition. All existing buildings should meet basic safety conditions and be equipped with safe and accessible routes, along with visual, acoustic and tactile signals to protect their users or potential visitors, and regardless of whether they undergo rehabilitation or change of use processes. Moreover, from a social perspective, we consider the need to prioritize buildings occupied by the most vulnerable groups of people that currently do not have specific regulations tailored to their needs. Some residential models in operation are not only outside the scope of application of the regulations in force; they also lack a project or technical data that would allow knowing the fire behavior of the construction materials. However, the difficulty and cost involved in adapting the entire building stock to current regulations can never justify the lack of safety for people. Hence, this work develops a simplified model to assess compliance with the basic safety conditions in case of fire and its compatibility with the specific accessibility needs of each user. The purpose is to support the designer in decision making, as well as to contribute to the development of a basic fire safety certification tool to be applied in inclusive residential models. This work has developed a methodology to support designers in adapting Social Services Centers, usually intended to vulnerable people. It incorporates a checklist of 9 items and information from sources or standards that designers can use to justify compliance or propose solutions. For each item, the verification system is justified, and possible sources of consultation are provided, considering the possibility of lacking technical documentation of construction systems or building materials. The procedure is based on diagnosing the degree of compliance with fire conditions of residential models used by vulnerable groups, considering the special accessibility conditions required by each user group. Through visual inspection and site surveying, the verification model can serve as a support tool, significantly streamlining the diagnostic phase and reducing the number of tests to be requested by over 75%. This speeds up and simplifies the diagnostic phase. To illustrate the methodology, two different buildings in the Valencian Region (Spain) have been selected. One case study is a mental health facility for residential purposes, located in a rural area, on the outskirts of a small town; the other one, is a day care facility for individuals with intellectual disabilities, located in a medium-sized city. The comparison between the case studies allow to validate the model in distinct conditions. Verifying compliance with a basic security level can allow a quality seal and a public register of buildings adapted to fire regulations to be established, similarly to what is being done with other types of attributes such as energy performance.Keywords: fire safety, inclusive housing, universal accessibility, vulnerable people
Procedia PDF Downloads 2227 Designing Disaster Resilience Research in Partnership with an Indigenous Community
Authors: Suzanne Phibbs, Christine Kenney, Robyn Richardson
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The Sendai Framework for Disaster Risk Reduction called for the inclusion of indigenous people in the design and implementation of all hazard policies, plans, and standards. Ensuring that indigenous knowledge practices were included alongside scientific knowledge about disaster risk was also a key priority. Indigenous communities have specific knowledge about climate and natural hazard risk that has been developed over an extended period of time. However, research within indigenous communities can be fraught with issues such as power imbalances between the researcher and researched, the privileging of researcher agendas over community aspirations, as well as appropriation and/or inappropriate use of indigenous knowledge. This paper documents the process of working alongside a Māori community to develop a successful community-led research project. Research Design: This case study documents the development of a qualitative community-led participatory project. The community research project utilizes a kaupapa Māori research methodology which draws upon Māori research principles and concepts in order to generate knowledge about Māori resilience. The research addresses a significant gap in the disaster research literature relating to indigenous knowledge about collective hazard mitigation practices as well as resilience in rurally isolated indigenous communities. The research was designed in partnership with the Ngāti Raukawa Northern Marae Collective as well as Ngā Wairiki Ngāti Apa (a group of Māori sub-tribes who are located in the same region) and will be conducted by Māori researchers utilizing Māori values and cultural practices. The research project aims and objectives, for example, are based on themes that were identified as important to the Māori community research partners. The research methodology and methods were also negotiated with and approved by the community. Kaumātua (Māori elders) provided cultural and ethical guidance over the proposed research process and will continue to provide oversight over the conduct of the research. Purposive participant recruitment will be facilitated with support from local Māori community research partners, utilizing collective marae networks and snowballing methods. It is envisaged that Māori participants’ knowledge, experiences and views will be explored using face-to-face communication research methods such as workshops, focus groups and/or semi-structured interviews. Interviews or focus groups may be held in English and/or Te Reo (Māori language) to enhance knowledge capture. Analysis, knowledge dissemination, and co-authorship of publications will be negotiated with the Māori community research partners. Māori knowledge shared during the research will constitute participants’ intellectual property. New knowledge, theory, frameworks, and practices developed by the research will be co-owned by Māori, the researchers, and the host academic institution. Conclusion: An emphasis on indigenous knowledge systems within the Sendai Framework for Disaster Risk Reduction risks the appropriation and misuse of indigenous experiences of disaster risk identification, mitigation, and response. The research protocol underpinning this project provides an exemplar of collaborative partnership in the development and implementation of an indigenous project that has relevance to policymakers, academic researchers, other regions with indigenous communities and/or local disaster risk reduction knowledge practices.Keywords: community resilience, indigenous disaster risk reduction, Maori, research methods
Procedia PDF Downloads 12526 Innovation Outputs from Higher Education Institutions: A Case Study of the University of Waterloo, Canada
Authors: Wendy De Gomez
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The University of Waterloo is situated in central Canada in the Province of Ontario- one hour from the metropolitan city of Toronto. For over 30 years, it has held Canada’s top spot as the most innovative university; and has been consistently ranked in the top 25 computer science and top 50 engineering schools in the world. Waterloo benefits from the federal government’s over 100 domestic innovation policies which have assisted in the country’s 15th place global ranking in the World Intellectual Property Organization’s (WIPO) 2022 Global Innovation Index. Yet undoubtedly, the University of Waterloo’s unique characteristics are what propels its innovative creativeness forward. This paper will provide a contextual definition of innovation in higher education and then demonstrate the five operational attributes that contribute to the University of Waterloo’s innovative reputation. The methodology is based on statistical analyses obtained from ranking bodies such as the QS World University Rankings, a secondary literature review related to higher education innovation in Canada, and case studies that exhibit the operationalization of the attributes outlined below. The first attribute is geography. Specifically, the paper investigates the network structure effect of the Toronto-Waterloo high-tech corridor and the resultant industrial relationships built there. The second attribute is University Policy 73-Intellectal Property Rights. This creator-owned policy grants all ownership to the creator/inventor regardless of the use of the University of Waterloo property or funding. Essentially, through the incentivization of IP ownership by all researchers, further commercialization and entrepreneurship are formed. Third, this IP policy works hand in hand with world-renowned business incubators such as the Accelerator Centre in the dedicated research and technology park and velocity, a 14-year-old facility that equips and guides founders to build and scale companies. Communitech, a 25-year-old provincially backed facility in the region, also works closely with the University of Waterloo to build strong teams, access capital, and commercialize products. Fourth, Waterloo’s co-operative education program contributes 31% of all co-op participants to the Canadian economy. Home to the world’s largest co-operative education program, data shows that over 7,000 from around the world recruit Waterloo students for short- and long-term placements- directly contributing to the student’s ability to learn and optimize essential employment skills when they graduate. Finally, the students themselves at Waterloo are exceptional. The entrance average ranges from the low 80s to the mid-90s depending on the program. In computer, electrical, mechanical, mechatronics, and systems design engineering, to have a 66% chance of acceptance, the applicant’s average must be 95% or above. Singularly, none of these five attributes could lead to the university’s outstanding track record of innovative creativity, but when bundled up into a 1000 acre- 100 building main campus with 6 academic faculties, 40,000+ students, and over 1300 world-class faculty, the recipe for success becomes quite evident.Keywords: IP policy, higher education, economy, innovation
Procedia PDF Downloads 7025 Against the Philosophical-Scientific Racial Project of Biologizing Race
Authors: Anthony F. Peressini
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The concept of race has recently come prominently back into discussion in the context of medicine and medical science, along with renewed effort to biologize racial concepts. This paper argues that this renewed effort to biologize race by way of medicine and population genetics fail on their own terms, and more importantly, that the philosophical project of biologizing race ought to be recognized for what it is—a retrograde racial project—and abandoned. There is clear agreement that standard racial categories and concepts cannot be grounded in the old way of racial naturalism, which understand race as a real, interest-independent biological/metaphysical category in which its members share “physical, moral, intellectual, and cultural characteristics.” But equally clear is the very real and pervasive presence of racial concepts in individual and collective consciousness and behavior, and so it remains a pressing area in which to seek deeper understanding. Recent philosophical work has endeavored to reconcile these two observations by developing a “thin” conception of race, grounded in scientific concepts but without the moral and metaphysical content. Such “thin,” science-based analyses take the “commonsense” or “folk” sense of race as it functions in contemporary society as the starting point for their philosophic-scientific projects to biologize racial concepts. A “philosophic-scientific analysis” is a special case of the cornerstone of analytic philosophy: a conceptual analysis. That is, a rendering of a concept into the more perspicuous concepts that constitute it. Thus a philosophic-scientific account of a concept is an attempt to work out an analysis of a concept that makes use of empirical science's insights to ground, legitimate and explicate the target concept in terms of clearer concepts informed by empirical results. The focus in this paper is on three recent philosophic-scientific cases for retaining “race” that all share this general analytic schema, but that make use of “medical necessity,” population genetics, and human genetic clustering, respectively. After arguing that each of these three approaches suffers from internal difficulties, the paper considers the general analytic schema employed by such biologizations of race. While such endeavors are inevitably prefaced with the disclaimer that the theory to follow is non-essentialist and non-racialist, the case will be made that such efforts are not neutral scientific or philosophical projects but rather are what sociologists call a racial project, that is, one of many competing efforts that conjoin a representation of what race means to specific efforts to determine social and institutional arrangements of power, resources, authority, etc. Accordingly, philosophic-scientific biologizations of race, since they begin from and condition their analyses on “folk” conceptions, cannot pretend to be “prior to” other disciplinary insights, nor to transcend the social-political dynamics involved in formulating theories of race. As a result, such traditional philosophical efforts can be seen to be disciplinarily parochial and to address only a caricature of a large and important human problem—and thereby further contributing to the unfortunate isolation of philosophical thinking about race from other disciplines.Keywords: population genetics, ontology of race, race-based medicine, racial formation theory, racial projects, racism, social construction
Procedia PDF Downloads 27324 Defective Autophagy Disturbs Neural Migration and Network Activity in hiPSC-Derived Cockayne Syndrome B Disease Models
Authors: Julia Kapr, Andrea Rossi, Haribaskar Ramachandran, Marius Pollet, Ilka Egger, Selina Dangeleit, Katharina Koch, Jean Krutmann, Ellen Fritsche
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It is widely acknowledged that animal models do not always represent human disease. Especially human brain development is difficult to model in animals due to a variety of structural and functional species-specificities. This causes significant discrepancies between predicted and apparent drug efficacies in clinical trials and their subsequent failure. Emerging alternatives based on 3D in vitro approaches, such as human brain spheres or organoids, may in the future reduce and ultimately replace animal models. Here, we present a human induced pluripotent stem cell (hiPSC)-based 3D neural in a vitro disease model for the Cockayne Syndrome B (CSB). CSB is a rare hereditary disease and is accompanied by severe neurologic defects, such as microcephaly, ataxia and intellectual disability, with currently no treatment options. Therefore, the aim of this study is to investigate the molecular and cellular defects found in neural hiPSC-derived CSB models. Understanding the underlying pathology of CSB enables the development of treatment options. The two CSB models used in this study comprise a patient-derived hiPSC line and its isogenic control as well as a CSB-deficient cell line based on a healthy hiPSC line (IMR90-4) background thereby excluding genetic background-related effects. Neurally induced and differentiated brain sphere cultures were characterized via RNA Sequencing, western blot (WB), immunocytochemistry (ICC) and multielectrode arrays (MEAs). CSB-deficiency leads to an altered gene expression of markers for autophagy, focal adhesion and neural network formation. Cell migration was significantly reduced and electrical activity was significantly increased in the disease cell lines. These data hint that the cellular pathologies is possibly underlying CSB. By induction of autophagy, the migration phenotype could be partially rescued, suggesting a crucial role of disturbed autophagy in defective neural migration of the disease lines. Altered autophagy may also lead to inefficient mitophagy. Accordingly, disease cell lines were shown to have a lower mitochondrial base activity and a higher susceptibility to mitochondrial stress induced by rotenone. Since mitochondria play an important role in neurotransmitter cycling, we suggest that defective mitochondria may lead to altered electrical activity in the disease cell lines. Failure to clear the defective mitochondria by mitophagy and thus missing initiation cues for new mitochondrial production could potentiate this problem. With our data, we aim at establishing a disease adverse outcome pathway (AOP), thereby adding to the in-depth understanding of this multi-faced disorder and subsequently contributing to alternative drug development.Keywords: autophagy, disease modeling, in vitro, pluripotent stem cells
Procedia PDF Downloads 12023 Centrality and Patent Impact: Coupled Network Analysis of Artificial Intelligence Patents Based on Co-Cited Scientific Papers
Authors: Xingyu Gao, Qiang Wu, Yuanyuan Liu, Yue Yang
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In the era of the knowledge economy, the relationship between scientific knowledge and patents has garnered significant attention. Understanding the intricate interplay between the foundations of science and technological innovation has emerged as a pivotal challenge for both researchers and policymakers. This study establishes a coupled network of artificial intelligence patents based on co-cited scientific papers. Leveraging centrality metrics from network analysis offers a fresh perspective on understanding the influence of information flow and knowledge sharing within the network on patent impact. The study initially obtained patent numbers for 446,890 granted US AI patents from the United States Patent and Trademark Office’s artificial intelligence patent database for the years 2002-2020. Subsequently, specific information regarding these patents was acquired using the Lens patent retrieval platform. Additionally, a search and deduplication process was performed on scientific non-patent references (SNPRs) using the Web of Science database, resulting in the selection of 184,603 patents that cited 37,467 unique SNPRs. Finally, this study constructs a coupled network comprising 59,379 artificial intelligence patents by utilizing scientific papers co-cited in patent backward citations. In this network, nodes represent patents, and if patents reference the same scientific papers, connections are established between them, serving as edges within the network. Nodes and edges collectively constitute the patent coupling network. Structural characteristics such as node degree centrality, betweenness centrality, and closeness centrality are employed to assess the scientific connections between patents, while citation count is utilized as a quantitative metric for patent influence. Finally, a negative binomial model is employed to test the nonlinear relationship between these network structural features and patent influence. The research findings indicate that network structural features such as node degree centrality, betweenness centrality, and closeness centrality exhibit inverted U-shaped relationships with patent influence. Specifically, as these centrality metrics increase, patent influence initially shows an upward trend, but once these features reach a certain threshold, patent influence starts to decline. This discovery suggests that moderate network centrality is beneficial for enhancing patent influence, while excessively high centrality may have a detrimental effect on patent influence. This finding offers crucial insights for policymakers, emphasizing the importance of encouraging moderate knowledge flow and sharing to promote innovation when formulating technology policies. It suggests that in certain situations, data sharing and integration can contribute to innovation. Consequently, policymakers can take measures to promote data-sharing policies, such as open data initiatives, to facilitate the flow of knowledge and the generation of innovation. Additionally, governments and relevant agencies can achieve broader knowledge dissemination by supporting collaborative research projects, adjusting intellectual property policies to enhance flexibility, or nurturing technology entrepreneurship ecosystems.Keywords: centrality, patent coupling network, patent influence, social network analysis
Procedia PDF Downloads 5422 Disaster Preparedness for People with Disabilities through EPPO's Educational Awareness Initiative
Authors: A. Kourou, A. Ioakeimidou, E. Pelli, M. Panoutsopoulou, V. Abramea
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Worldwide there is a growing recognition that education is a critical component of any disaster impacts reduction effort and a great challenge too. Given this challenge, a broad range of awareness raising projects at all levels are implemented and are continuously evaluated by Earthquake Planning and Protection Organization (EPPO). This paper presents an overview of EPPO educational initiative (seminars, lectures, workshops, campaigns and educational material) and its evaluation results. The abovementioned initiative is focused to aware the public, train teachers and civil protection staff, inform students and educate people with disabilities on subjects related to earthquake reduction issues. The better understating of how human activity can link to disaster and what can be done at the individual, family or workplace level to contribute to seismic reduction are the main issues of EPPO projects. Survey results revealed that a high percentage of teachers (included the ones of special schools) from all over the country have taken the appropriate preparedness measures at schools. On the other hand, the implementation of earthquake preparedness measures at various workplaces (kindergartens, banks, utilities etc.) has still significant room for improvement. Results show that the employees in banks and public utilities have substantially higher rates in preventive and preparedness actions in their workplaces than workers in kindergartens and other workplaces. One of the EPPO educational priorities is to enhance earthquake preparedness of people with disabilities. Booklets, posters and applications have been created with the financial support of the Council of Europe, addressed to people who have mobility impairments, learning difficulties or cognitive disability (ή intellectual disabilities). Part of the educational material was developed using the «easy-to-read» method and Makaton language program with the collaboration of experts on special needs education and teams of people with cognitive disability. Furthermore, earthquake safety seminars and earthquake drills have been implemented in order to develop children’s, parents’ and teachers abilities and skills on earthquake impacts reduction. To enhance the abovementioned efforts, EPPO is a partner at prevention and preparedness projects supported by EU Civil Protection Financial Instrument. One of them is E-PreS’ project (Monitoring and Evaluation of Natural Hazard Preparedness at School Environment). The main objectives of E-PreS project are: 1) to create smart tools which define, simulate and evaluate drills procedure at schools, centers of vocational training of people with disabilities or other workplaces, and 2) to involve students or adults with disabilities in the E-PreS system evacuation procedure in case of earthquake, flood, or volcanic occurrence. Two other EU projects (RACCE educational kit and EVANDE educational platform) are also with the aim of contributing to raising awareness among people with disabilities, students, teachers, volunteers etc. It is worth mentioning that even though in Greece many efforts have been done till now to build awareness towards earthquakes and establish preparedness status for prospective earthquakes, there are still actions to be taken.Keywords: earthquake, emergency plans, E-PreS project, people with disabilities, special needs education
Procedia PDF Downloads 26521 Quantifying Firm-Level Environmental Innovation Performance: Determining the Sustainability Value of Patent Portfolios
Authors: Maximilian Elsen, Frank Tietze
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The development and diffusion of green technologies are crucial for achieving our ambitious climate targets. The Paris Agreement commits its members to develop strategies for achieving net zero greenhouse gas emissions by the second half of the century. Governments, executives, and academics are working on net-zero strategies and the business of rating organisations on their environmental, social and governance (ESG) performance has grown tremendously in its public interest. ESG data is now commonly integrated into traditional investment analysis and an important factor in investment decisions. Creating these metrics, however, is inherently challenging as environmental and social impacts are hard to measure and uniform requirements on ESG reporting are lacking. ESG metrics are often incomplete and inconsistent as they lack fully accepted reporting standards and are often of qualitative nature. This study explores the use of patent data for assessing the environmental performance of companies by focusing on their patented inventions in the space of climate change mitigation and adaptation technologies (CCMAT). The present study builds on the successful identification of CCMAT patents. In this context, the study adopts the Y02 patent classification, a fully cross-sectional tagging scheme that is fully incorporated in the Cooperative Patent Classification (CPC), to identify Climate Change Adaptation Technologies. The Y02 classification was jointly developed by the European Patent Office (EPO) and the United States Patent and Trademark Office (USPTO) and provides means to examine technologies in the field of mitigation and adaptation to climate change across relevant technologies. This paper develops sustainability-related metrics for firm-level patent portfolios. We do so by adopting a three-step approach. First, we identify relevant CCMAT patents based on their classification as Y02 CPC patents. Second, we examine the technological strength of the identified CCMAT patents by including more traditional metrics from the field of patent analytics while considering their relevance in the space of CCMAT. Such metrics include, among others, the number of forward citations a patent receives, as well as the backward citations and the size of the focal patent family. Third, we conduct our analysis on a firm level by sector for a sample of companies from different industries and compare the derived sustainability performance metrics with the firms’ environmental and financial performance based on carbon emissions and revenue data. The main outcome of this research is the development of sustainability-related metrics for firm-level environmental performance based on patent data. This research has the potential to complement existing ESG metrics from an innovation perspective by focusing on the environmental performance of companies and putting them into perspective to conventional financial performance metrics. We further provide insights into the environmental performance of companies on a sector level. This study has implications of both academic and practical nature. Academically, it contributes to the research on eco-innovation and the literature on innovation and intellectual property (IP). Practically, the study has implications for policymakers by deriving meaningful insights into the environmental performance from an innovation and IP perspective. Such metrics are further relevant for investors and potentially complement existing ESG data.Keywords: climate change mitigation, innovation, patent portfolios, sustainability
Procedia PDF Downloads 8320 Early Impact Prediction and Key Factors Study of Artificial Intelligence Patents: A Method Based on LightGBM and Interpretable Machine Learning
Authors: Xingyu Gao, Qiang Wu
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Patents play a crucial role in protecting innovation and intellectual property. Early prediction of the impact of artificial intelligence (AI) patents helps researchers and companies allocate resources and make better decisions. Understanding the key factors that influence patent impact can assist researchers in gaining a better understanding of the evolution of AI technology and innovation trends. Therefore, identifying highly impactful patents early and providing support for them holds immeasurable value in accelerating technological progress, reducing research and development costs, and mitigating market positioning risks. Despite the extensive research on AI patents, accurately predicting their early impact remains a challenge. Traditional methods often consider only single factors or simple combinations, failing to comprehensively and accurately reflect the actual impact of patents. This paper utilized the artificial intelligence patent database from the United States Patent and Trademark Office and the Len.org patent retrieval platform to obtain specific information on 35,708 AI patents. Using six machine learning models, namely Multiple Linear Regression, Random Forest Regression, XGBoost Regression, LightGBM Regression, Support Vector Machine Regression, and K-Nearest Neighbors Regression, and using early indicators of patents as features, the paper comprehensively predicted the impact of patents from three aspects: technical, social, and economic. These aspects include the technical leadership of patents, the number of citations they receive, and their shared value. The SHAP (Shapley Additive exPlanations) metric was used to explain the predictions of the best model, quantifying the contribution of each feature to the model's predictions. The experimental results on the AI patent dataset indicate that, for all three target variables, LightGBM regression shows the best predictive performance. Specifically, patent novelty has the greatest impact on predicting the technical impact of patents and has a positive effect. Additionally, the number of owners, the number of backward citations, and the number of independent claims are all crucial and have a positive influence on predicting technical impact. In predicting the social impact of patents, the number of applicants is considered the most critical input variable, but it has a negative impact on social impact. At the same time, the number of independent claims, the number of owners, and the number of backward citations are also important predictive factors, and they have a positive effect on social impact. For predicting the economic impact of patents, the number of independent claims is considered the most important factor and has a positive impact on economic impact. The number of owners, the number of sibling countries or regions, and the size of the extended patent family also have a positive influence on economic impact. The study primarily relies on data from the United States Patent and Trademark Office for artificial intelligence patents. Future research could consider more comprehensive data sources, including artificial intelligence patent data, from a global perspective. While the study takes into account various factors, there may still be other important features not considered. In the future, factors such as patent implementation and market applications may be considered as they could have an impact on the influence of patents.Keywords: patent influence, interpretable machine learning, predictive models, SHAP
Procedia PDF Downloads 5019 The Impact of the Media in the Implementation of Qatar’s Foreign Policy on the Public Opinion of the People of the Middle East (2011-2023)
Authors: Negar Vkilbashi, Hassan Kabiri
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Modern diplomacy, in its general form, refers to the people and not the governments, and diplomacy tactics are more addressed to the people than to the governments. Media diplomacy and cyber diplomacy are also one of the sub-branches of public diplomacy and, in fact, the role of media in the process of influencing public opinion and directing foreign policy. Mass media, including written, radio and television, theater, satellite, internet, and news agencies, transmit information and demands. What the Qatari government tried to implement in the countries of the region during the Arab Spring and after was through its important media, Al Jazeera. The embargo on Qatar began in 2017, when Saudi Arabia, the United Arab Emirates, Bahrain, and Egypt imposed a land, sea, and air blockade against the country. The media tool constitutes the cornerstone of soft power in the field of foreign policy, which Qatari leaders have consistently resorted to over the past two decades. Undoubtedly, the role it played in covering the events of the Arab Spring has created geopolitical tensions. The United Arab Emirates and other neighboring countries sometimes criticize Al Jazeera for providing a platform for the Muslim Brotherhood, Hamas, and other Islamists to promote their ideology. In 2011, at the same time as the Arab Spring, Al Jazeera reached the peak of its popularity. Al Jazeera's live coverage of protests in Tunisia, Egypt, Yemen, Libya, and Syria helped create a unified narrative of the Arab Spring, with audiences tuning in every Friday to watch simultaneous protests across the Middle East. Al Jazeera operates in three groups: First, it is a powerful base in the hands of the government so that it can direct and influence Arab public opinion. Therefore, this network has been able to benefit from the unlimited financial support of the Qatar government to promote its desired policies and culture. Second, it has provided an attractive platform for politicians and scientific and intellectual elites, thus attracting their support and defense from the government and its rulers. Third, during the last years of Prince Hamad's reign, the Al Jazeera network formed a deterrent weapon to counter the media and political struggle campaigns. The importance of the research is that this network covers a wide range of people in the Middle East and, therefore, has a high influence on the decision-making of countries. On the other hand, Al Jazeera is influential as a tool of public diplomacy and soft power in Qatar's foreign policy, and by studying it, the results of its effectiveness in the past years can be examined. Using a qualitative method, this research analyzes the impact of the media on the implementation of Qatar's foreign policy on the public opinion of the people of the Middle East. Data collection has been done by the secondary method, that is, reading related books, magazine articles, newspaper reports and articles, and analytical reports of think tanks. The most important findings of the research are that Al Jazeera plays an important role in Qatar's foreign policy in Qatar's public diplomacy. So that, in 2011, 2017 and 2023, it played an important role in Qatar's foreign policy in various crises. Also, the people of Arab countries use Al-Jazeera as their first reference.Keywords: Al Jazeera, Qatar, media, diplomacy
Procedia PDF Downloads 7818 Impact of School Environment on Socio-Affective Development: A Quasi-Experimental Longitudinal Study of Urban and Suburban Gifted and Talented Programs
Authors: Rebekah Granger Ellis, Richard B. Speaker, Pat Austin
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This study used two psychological scales to examine the level of social and emotional intelligence and moral judgment of over 500 gifted and talented high school students in various academic and creative arts programs in a large metropolitan area in the southeastern United States. For decades, numerous models and programs purporting to encourage socio-affective characteristics of adolescent development have been explored in curriculum theory and design. Socio-affective merges social, emotional, and moral domains. It encompasses interpersonal relations and social behaviors; development and regulation of emotions; personal and gender identity construction; empathy development; moral development, thinking, and judgment. Examining development in these socio-affective domains can provide insight into why some gifted and talented adolescents are not successful in adulthood despite advanced IQ scores. Particularly whether nonintellectual characteristics of gifted and talented individuals, such as emotional, social and moral capabilities, are as advanced as their intellectual abilities and how these are related to each other. Unique characteristics distinguish gifted and talented individuals; these may appear as strengths, but there is the potential for problems to accompany them. Although many thrive in their school environments, some gifted students struggle rather than flourish. In the socio-affective domain, these adolescents face special intrapersonal, interpersonal, and environmental problems. Gifted individuals’ cognitive, psychological, and emotional development occurs asynchronously, in multidimensional layers at different rates and unevenly across ability levels. Therefore, it is important to examine the long-term effects of participation in various gifted and talented programs on the socio-affective development of gifted and talented adolescents. This quasi-experimental longitudinal study examined students in several gifted and talented education programs (creative arts school, urban charter schools, and suburban public schools) for (1) socio-affective development level and (2) whether a particular gifted and talented program encourages developmental growth. The following research questions guided the study: (1) How do academically and artistically talented gifted 10th and 11th grade students perform on psychometric scales of social and emotional intelligence and moral judgment? Do they differ from their age or grade normative sample? Are their gender differences among gifted students? (2) Does school environment impact 10th and 11th grade gifted and talented students’ socio-affective development? Do gifted adolescents who participate in a particular school gifted program differ in their developmental profiles of social and emotional intelligence and moral judgment? Students’ performances on psychometric instruments were compared over time and by type of program. Participants took pre-, mid-, and post-tests over the course of an academic school year with Defining Issues Test (DIT-2) assessing moral judgment and BarOn EQ-I: YV assessing social and emotional intelligence. Based on these assessments, quantitative differences in growth on psychological scales (individual and school) were examined. Change scores between schools were also compared. If a school showed change, artifacts (culture, curricula, instructional methodology) provided insight as to environmental qualities that produced this difference.Keywords: gifted and talented education, moral development, socio-affective development, socio-affective education
Procedia PDF Downloads 16217 Challenges, Practices, and Opportunities of Knowledge Management in Industrial Research Institutes: Lessons Learned from Flanders Make
Authors: Zhenmin Tao, Jasper De Smet, Koen Laurijssen, Jeroen Stuyts, Sonja Sioncke
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Today, the quality of knowledge management (KM)become one of the underpinning factors in the success of an organization, as it determines the effectiveness of capitalizing the organization’s knowledge. Overall, KMin an organization consists of five aspects: (knowledge) creation, validation, presentation, distribution, and application. Among others, KM in research institutes is considered as the cornerstone as their activities cover all five aspects. Furthermore, KM in a research institute facilitates the steering committee to envision the future roadmap, identify knowledge gaps, and make decisions on future research directions. Likewise, KMis even more challenging in industrial research institutes. From a technical perspective, technology advancement in the past decades calls for combinations of breadth and depth in expertise that poses challenges in talent acquisition and, therefore, knowledge creation. From a regulatory perspective, the strict intellectual property protection from industry collaborators and/or the contractual agreements made by possible funding authoritiesform extra barriers to knowledge validation, presentation, and distribution. From a management perspective, seamless KM activities are only guaranteed by inter-disciplinary talents that combine technical background knowledge, management skills, and leadership, let alone international vision. From a financial perspective, the long feedback period of new knowledge, together with the massive upfront investment costs and low reusability of the fixed assets, lead to low RORC (return on research capital) that jeopardize KM practice. In this study, we aim to address the challenges, practices, and opportunitiesof KM in Flanders Make – a leading European research institute specialized in the manufacturing industry. In particular, the analyses encompass an internal KM project which involves functionalities ranging from management to technical domain experts. This wide range of functionalities provides comprehensive empirical evidence on the challenges and practices w.r.t.the abovementioned KMaspects. Then, we ground our analysis onto the critical dimensions ofKM–individuals, socio‐organizational processes, and technology. The analyses have three steps: First, we lay the foundation and define the environment of this study by briefing the KM roles played by different functionalities in Flanders Make. Second, we zoom in to the CoreLab MotionS where the KM project is located. In this step, given the technical domains covered by MotionS products, the challenges in KM will be addressed w.r.t. the five KM aspects and three critical dimensions. Third, by detailing the objectives, practices, results, and limitations of the MotionSKMproject, we justify the practices and opportunities derived in the execution ofKMw.r.t. the challenges addressed in the second step. The results of this study are twofold: First, a KM framework that consolidates past knowledge is developed. A library based on this framework can, therefore1) overlook past research output, 2) accelerate ongoing research activities, and 3) envision future research projects. Second, the challenges inKM on both individual (actions) level and socio-organizational level (e.g., interactions between individuals)are identified. By doing so, suggestions and guidelines will be provided in KM in the context of industrial research institute. To this end, the results in this study are reflected towards the findings in existing literature.Keywords: technical knowledge management framework, industrial research institutes, individual knowledge management, socio-organizational knowledge management.
Procedia PDF Downloads 11616 National Core Indicators - Aging and Disabilities: A Person-Centered Approach to Understanding Quality of Long-Term Services and Supports
Authors: Stephanie Giordano, Rosa Plasencia
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In the USA, in 2013, public service systems such as Medicaid, aging, and disability systems undertook an effort to measure the quality of service delivery by examining the experiences and outcomes of those receiving public services. The goal of this effort was to develop a survey to measure the experiences and outcomes of those receiving public services, with the goal of measuring system performance for quality improvement. The performance indicators were developed through with input from directors of state aging and disability service systems, along with experts and stakeholders in the field across the United States. This effort, National Core Indicators –Aging and Disabilities (NCI-AD), grew out of National Core Indicators –Intellectual and Developmental Disabilities, an effort to measure developmental disability (DD) systems across the States. The survey tool and administration protocol underwent multiple rounds of testing and revision between 2013 and 2015. The measures in the final tool – called the Adult Consumer Survey (ACS) – emphasize not just important indicators of healthcare access and personal safety but also includes indicators of system quality based on person-centered outcomes. These measures indicate whether service systems support older adults and people with disabilities to live where they want, maintain relationships and engage in their communities and have choice and control in their everyday lives. Launched in 2015, the NCI-AD Adult Consumer Survey is now used in 23 states in the US. Surveys are conducted by NCI-AD trained surveyors via direct conversation with a person receiving public long-term services and supports (LTSS). Until 2020, surveys were only conducted in person. However, after a pilot to test the reliability of videoconference and telephone survey modes, these modes were adopted as an acceptable practice. The nature of the survey is that of a “guided conversation” survey administration allows for surveyor to use wording and terminology that is best understand by the person surveyed. The survey includes a subset of questions that may be answered by a proxy respondent who knows the person well if the person is receiving services in unable to provide valid responses on their own. Surveyors undergo a standardized training on survey administration to ensure the fidelity of survey administration. In addition to the main survey section, a Background Information section collects data on personal and service-related characteristics of the person receiving services; these data are typically collected through state administrative record. This information is helps provide greater context around the characteristics of people receiving services. It has also been used in conjunction with outcomes measures to look at disparity (including by race and ethnicity, gender, disability, and living arrangements). These measures of quality are critical for public service delivery systems to understand the unique needs of the population of older adults and improving the lives of older adults as well as people with disabilities. Participating states may use these data to identify areas for quality improvement within their service delivery systems, to advocate for specific policy change, and to better understand the experiences of specific populations of people served.Keywords: quality of life, long term services and supports, person-centered practices, aging and disability research, survey methodology
Procedia PDF Downloads 12015 Including All Citizens Pathway (IACP): Transforming Post-Secondary Education Using Inclusion and Accessibility as Foundation
Authors: Fiona Whittington-Walsh
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Including All Citizens Pathway (IACP) is addressing the systems wide discrimination that students with disabilities experience throughout the education system. IACP offers a wide, institutional support structure so that all students, including students with intellectual/developmental disabilities, are included and can succeed. The entire process from admissions, course selection, course instruction, graduation is designed to address systemic discrimination while supporting learners and faculty. The inclusive and accessible pedagogical model that is the foundation of IACP opens the doors of post-secondary education by making existing academic courses environments where all students can participate and succeed. IACP is about transforming teaching, not modifying, or adapting the curriculum or essential knowledge and skill sets that are required learning outcomes. Universal Design for Learning (UDL) principles are applied to instructional teaching strategies such as lectures, presentations, and assessment tools. Created in 2016 as a research pilot, IACP is one of the first fully inclusive for credit post-secondary options available. The pilot received numerous external and internal grants to support its initiative to investigate and assess the teaching strategies and techniques that support student learning of essential knowledge and skill sets. IACP pilot goals included: (1) provide a successful pilot as a model of inclusive and accessible pedagogy; (2) create a teacher’s guide to assist other instructors in transforming their teaching to reach a wide range of learners; (3) identify policy barriers located within the educational system; and (4) provide leadership and encouraging innovative and inclusive pedagogical practices. The pilot was a success and in 2020 the first cohort of students graduated with an exit credential that pre-exists IACP and consists of ten academic courses. The University has committed to continue IACP and has developed a sustainable model. Each new academic year a new cohort of IACP students starts their post-secondary educational journey, while two additional instructors are mentored with the pedagogy. The pedagogical foundation of IACP has far-reaching potential including, but not limited to, programs that offer services for international students whose first language is not English as well as influencing pedagogical reform in secondary and post-secondary education. IACP also supports universities in satisfying educational standards that are or will be included in accessibility/disability legislation. This session will present information about IACP, share examples of systems transformation, hear from students and instructors, and provide participatory experiential activities that demonstrate the transformative techniques. We will be drawing from the experiences of a recent course that explored research documenting the lived experiences of students with disabilities in post-secondary institutes in B.C (Whittington-Walsh). Students created theatrical scenes out of the data and presented it using Forum Theatre method. Forum Theatre was used to create conversations, challenge stereotypes, and build connections between ableism, disability justice, Indigeneity, and social policy.Keywords: disability justice, inclusive education, pedagogical transformation, systems transformation
Procedia PDF Downloads 814 Embodied Empowerment: A Design Framework for Augmenting Human Agency in Assistive Technologies
Authors: Melina Kopke, Jelle Van Dijk
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Persons with cognitive disabilities, such as Autism Spectrum Disorder (ASD) are often dependent on some form of professional support. Recent transformations in Dutch healthcare have spurred institutions to apply new, empowering methods and tools to enable their clients to cope (more) independently in daily life. Assistive Technologies (ATs) seem promising as empowering tools. While ATs can, functionally speaking, help people to perform certain activities without human assistance, we hold that, from a design-theoretical perspective, such technologies often fail to empower in a deeper sense. Most technologies serve either to prescribe or to monitor users’ actions, which in some sense objectifies them, rather than strengthening their agency. This paper proposes that theories of embodied interaction could help formulating a design vision in which interactive assistive devices augment, rather than replace, human agency and thereby add to a persons’ empowerment in daily life settings. It aims to close the gap between empowerment theory and the opportunities provided by assistive technologies, by showing how embodiment and empowerment theory can be applied in practice in the design of new, interactive assistive devices. Taking a Research-through-Design approach, we conducted a case study of designing to support independently living people with ASD with structuring daily activities. In three iterations we interlaced design action, active involvement and prototype evaluations with future end-users and healthcare professionals, and theoretical reflection. Our co-design sessions revealed the issue of handling daily activities being multidimensional. Not having the ability to self-manage one’s daily life has immense consequences on one’s self-image, and also has major effects on the relationship with professional caregivers. Over the course of the project relevant theoretical principles of both embodiment and empowerment theory together with user-insights, informed our design decisions. This resulted in a system of wireless light units that users can program as a reminder for tasks, but also to record and reflect on their actions. The iterative process helped to gradually refine and reframe our growing understanding of what it concretely means for a technology to empower a person in daily life. Drawing on the case study insights we propose a set of concrete design principles that together form what we call the embodied empowerment design framework. The framework includes four main principles: Enabling ‘reflection-in-action’; making information ‘publicly available’ in order to enable co-reflection and social coupling; enabling the implementation of shared reflections into an ‘endurable-external feedback loop’ embedded in the persons familiar ’lifeworld’; and nudging situated actions with self-created action-affordances. In essence, the framework aims for the self-development of a suitable routine, or ‘situated practice’, by building on a growing shared insight of what works for the person. The framework, we propose, may serve as a starting point for AT designers to create truly empowering interactive products. In a set of follow-up projects involving the participation of persons with ASD, Intellectual Disabilities, Dementia and Acquired Brain Injury, the framework will be applied, evaluated and further refined.Keywords: assistive technology, design, embodiment, empowerment
Procedia PDF Downloads 27813 Comparing Practices of Swimming in the Netherlands against a Global Model for Integrated Development of Mass and High Performance Sport: Perceptions of Coaches
Authors: Melissa de Zeeuw, Peter Smolianov, Arnold Bohl
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This study was designed to help and improve international performance as well increase swimming participation in the Netherlands. Over 200 sources of literature on sport delivery systems from 28 Australasian, North and South American, Western and Eastern European countries were analyzed to construct a globally applicable model of high performance swimming integrated with mass participation, comprising of the following seven elements and three levels: Micro level (operations, processes, and methodologies for development of individual athletes): 1. Talent search and development, 2. Advanced athlete support. Meso level (infrastructures, personnel, and services enabling sport programs): 3. Training centers, 4. Competition systems, 5. Intellectual services. Macro level (socio-economic, cultural, legislative, and organizational): 6. Partnerships with supporting agencies, 7. Balanced and integrated funding and structures of mass and elite sport. This model emerged from the integration of instruments that have been used to analyse and compare national sport systems. The model has received scholarly validation and showed to be a framework for program analysis that is not culturally bound. It has recently been accepted as a model for further understanding North American sport systems, including (in chronological order of publications) US rugby, tennis, soccer, swimming and volleyball. The above model was used to design a questionnaire of 42 statements reflecting desired practices. The statements were validated by 12 international experts, including executives from sport governing bodies, academics who published on high performance and sport development, and swimming coaches and administrators. In this study both a highly structured and open ended qualitative analysis tools were used. This included a survey of swim coaches where open responses accompanied structured questions. After collection of the surveys, semi-structured discussions with Federation coaches were conducted to add triangulation to the findings. Lastly, a content analysis of Dutch Swimming’s website and organizational documentation was conducted. A representative sample of 1,600 Dutch Swim coaches and administrators was collected via email addresses from Royal Dutch Swimming Federation' database. Fully completed questionnaires were returned by 122 coaches from all key country’s regions for a response rate of 7,63% - higher than the response rate of the previously mentioned US studies which used the same model and method. Results suggest possible enhancements at macro level (e.g., greater public and corporate support to prepare and hire more coaches and to address the lack of facilities, monies and publicity at mass participation level in order to make swimming affordable for all), at meso level (e.g., comprehensive education for all coaches and full spectrum of swimming pools particularly 50 meters long), and at micro level (e.g., better preparation of athletes for a future outside swimming and better use of swimmers to stimulate swimming development). Best Dutch swimming management practices (e.g., comprehensive support to most talented swimmers who win Olympic medals) as well as relevant international practices available for transfer to the Netherlands (e.g., high school competitions) are discussed.Keywords: sport development, high performance, mass participation, swimming
Procedia PDF Downloads 20512 Quality in Healthcare: An Autism-Friendly Hospital Emergency Waiting Room
Authors: Elena Bellini, Daniele Mugnaini, Michele Boschetto
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People with an Autistic Spectrum Disorder and an Intellectual Disability who need to attend a Hospital Emergency Waiting Room frequently present high levels of discomfort and challenging behaviors due to stress-related hyperarousal, sensory sensitivity, novelty-anxiety, communication and self-regulation difficulties. Increased agitation and acting out also disturb the diagnostic and therapeutic processes, and the emergency room climate. Architectural design disciplines aimed at reducing distress in hospitals or creating autism-friendly environments are called for to find effective answers to this particular need. A growing number of researchers are considering the physical environment as an important point of intervention for people with autism. It has been shown that providing the right setting can help enhance confidence and self-esteem and can have a profound impact on their health and wellbeing. Environmental psychology has evaluated the perceived quality of care, looking at the design of hospital rooms, paths and circulation, waiting rooms, services and devices. Furthermore, many studies have investigated the influence of the hospital environment on patients, in terms of stress-reduction and therapeutic intervention’ speed, but also on health professionals and their work. Several services around the world are organizing autism-friendly hospital environments which involve the architecture and the specific staff training. In Italy, the association Spes contra spem has promoted and published, in 2013, the ‘Chart of disabled people in the hospital’. It stipulates that disabled people should have equal rights to accessible and high-quality care. There are a few Italian examples of therapeutic programmes for autistic people as the Dama project in Milan and the recent experience of Children and Autism Foundation in Pordenone. Careggi’s Emergency Waiting Room in Florence has been built to satisfy this challenge. This project of research comes from a collaboration between the technical staff of Careggi Hospital, the Center for autism PAMAPI and some architects expert in the sensory environment. The methodology of focus group involved architects, psychologists and professionals through a transdisciplinary research, centered on the links between the spatial characteristics and clinical state of people with ASD. The relationship between architectural space and quality of life is studied to pay maximum attention to users’ needs and to support the medical staff in their work by a specific program of training. The result of this research is a sum of criteria used to design the emergency waiting room, that will be illustrated. A protected room, with a clear space design, maximizes comprehension and predictability. The multisensory environment is thought to help sensory integration and relaxation. Visual communication through Ipad allows an anticipated understanding of medical procedures, and a specific technological system supports requests, choices and self-determination in order to fit sensory stimulation to personal preferences, especially for hypo and hypersensitive people. All these characteristics should ensure a better regulation of the arousal, less behavior problems, improving treatment accessibility, safety, and effectiveness. First results about patient-satisfaction levels will be presented.Keywords: accessibility of care, autism-friendly architecture, personalized therapeutic process, sensory environment
Procedia PDF Downloads 26511 RE:SOUNDING a 2000-Year-Old Vietnamese Dong Son Bronze Drum; Artist-Led Collaborations outside the Museum to Challenge the Impasse of Repatriating and Rematriating Cultural Instruments
Authors: H. A. J. Nguyen, V. A. Pham
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RE:SOUNDING is an ongoing research project and artwork seeking to return the sound and knowledge of Dong Son bronze drums back to contemporary musicians. Colonial collections of ethnographic instruments are problematic in how they commit acts of conceptual, cultural, and acoustic silencing. The collection (or more honestly), the plagiarism, and pillaging of these instruments have systemically separated them from living and breathing cultures. This includes diasporic communities, who have come to resettle in close proximity - but still have little access - to the museums and galleries that display their cultural objects. Despite recent attempts to 'open up' and 'recognise' the tensions and violence of these ethnographic collections, many museums continue to structurally organize and reproduce knowledge with the same procedural distance and limitations of imperial condescension. Impatient with the slowness of these museums, our diaspora led collaborations participated in the opaque economy of the auction market to gain access and begin the process of digitally recording and archiving the actual sounds of the ancient Dong Son drum. This self-directed, self-initiated artwork not only acoustically reinvigorated an ancient instrument but redistributed these sonic materials back to contemporary musicians, composers, and their diasporic communities throughout Vietnam, South East Asia, and Australia. Our methodologies not only highlight the persistent inflexibility of museum infrastructures but demand that museums refrain from their paternalistic practice of risk-averse ownership, to seriously engage with new technologies and political formations that require all public institutions to be held accountable for the ethical and intellectual viability of their colonial collections. The integrated and practical resolve of diasporic artists and their communities are more than capable of working with new technologies to reclaim and reinvigorate what is culturally and spiritually theirs. The motivation to rematriate – as opposed to merely repatriate – the acoustic legacies of these instruments to contemporary musicians and artists is a new model for decolonial and restorative practices. Exposing the inadequacies of western scholarship that continues to treat these instruments as discreet, disembodied, and detached artifacts, these collaborative strategies have thus far produced a wealth of new knowledge – new to the west perhaps – but not that new to these, our own communities. This includes the little-acknowledged fact that the Dong Son drum were political instruments of war and technology, rather than their simplistic description in the museum and western academia as agrarian instruments of fertility and harvest. Through the collective and continued sharing of knowledge and sound materials produced from this research, these drums are gaining a contemporary relevance beyond the cultural silencing of the museum display cabinet. Acknowledgement: We acknowledge the Wurundjeri and Boon Wurrung of the Kulin Nation and the Gadigal of the Eora Nation where we began this project. We pay our respects to the Peoples, Lands, Traditional Custodians, Practices, and Creator Ancestors of these Great Nations, as well as those First Nations peoples throughout Australia, Vietnam, and Indonesia, where this research continues, and upon whose stolen lands and waterways were never ceded.Keywords: acoustic archaeology, decolonisation, museum collections, rematriation, repatriation, Dong Son, experimental music, digital recording
Procedia PDF Downloads 15110 Effects of School Culture and Curriculum on Gifted Adolescent Moral, Social, and Emotional Development: A Longitudinal Study of Urban Charter Gifted and Talented Programs
Authors: Rebekah Granger Ellis, Pat J. Austin, Marc P. Bonis, Richard B. Speaker, Jr.
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Using two psychometric instruments, this study examined social and emotional intelligence and moral judgment levels of more than 300 gifted and talented high school students enrolled in arts-integrated, academic acceleration, and creative arts charter schools in an ethnically diverse large city in the southeastern United States. Gifted and talented individuals possess distinguishable characteristics; these frequently appear as strengths, but often serious problems accompany them. Although many gifted adolescents thrive in their environments, some struggle in their school and community due to emotional intensity, motivation and achievement issues, lack of peers and isolation, identification problems, sensitivity to expectations and feelings, perfectionism, and other difficulties. These gifted students endure and survive in school rather than flourish. Gifted adolescents face special intrapersonal, interpersonal, and environmental problems. Furthermore, they experience greater levels of stress, disaffection, and isolation than non-gifted individuals due to their advanced cognitive abilities. Therefore, it is important to examine the long-term effects of participation in various gifted and talented programs on the socio-affective development of these adolescents. Numerous studies have researched moral, social, and emotional development in the areas of cognitive-developmental, psychoanalytic, and behavioral learning; however, in almost all cases, these three facets have been studied separately leading to many divergent theories. Additionally, various frameworks and models purporting to encourage the different socio-affective branches of development have been debated in curriculum theory, yet research is inconclusive on the effectiveness of these programs. Most often studied is the socio-affective domain, which includes development and regulation of emotions; empathy development; interpersonal relations and social behaviors; personal and gender identity construction; and moral development, thinking, and judgment. Examining development in these domains can provide insight into why some gifted and talented adolescents are not always successful in adulthood despite advanced IQ scores. Particularly whether emotional, social and moral capabilities of gifted and talented individuals are as advanced as their intellectual abilities and how these are related to each other. This mixed methods longitudinal study examined students in urban gifted and talented charter schools for (1) socio-affective development levels and (2) whether a particular environment encourages developmental growth. Research questions guiding the study: (1) How do academically and artistically gifted 10th and 11th grade students perform on psychological scales of social and emotional intelligence and moral judgment? Do they differ from the normative sample? Do gender differences exist among gifted students? (2) Do adolescents who attend distinctive gifted charter schools differ in developmental profiles? Students’ performances on psychometric instruments were compared over time and by program type. Assessing moral judgment (DIT-2) and socio-emotional intelligence (BarOn EQ-I: YV), participants took pre-, mid-, and post-tests during one academic school year. Quantitative differences in growth on these psychological scales (individuals and school-wide) were examined. If a school showed change, qualitative artifacts (culture, curricula, instructional methodology, stakeholder interviews) provided insight for environmental correlation.Keywords: gifted and talented programs, moral judgment, social and emotional intelligence, socio-affective education
Procedia PDF Downloads 1939 Schoolwide Implementation of Schema-Based Instruction for Mathematical Problem Solving: An Action Research Investigation
Authors: Sara J. Mills, Sally Howell
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The field of special education has long struggled to bridge the research to practice gap. There is ample evidence from research of effective strategies for students with special needs, but these strategies are not routinely implemented in schools in ways that yield positive results for students. In recent years, the field of special education has turned its focus to implementation science. That is, discovering effective methods of implementing evidence-based practices in school settings. Teacher training is a critical factor in implementation. This study aimed to successfully implement Schema-Based Instruction (SBI) for math problem solving in four classrooms in a special primary school serving students with language deficits, including students with Autism Spectrum Disorders (ASD) and Intellectual Disabilities (ID). Using an action research design that allowed for adjustments and modification to be made over the year-long study, two cohorts of teachers across the school were trained and supported in six-week learning cycles to implement SBI in their classrooms. The learning cycles included a one-day training followed by six weeks of one-on-one or team coaching and three fortnightly cohort group meetings. After the first cohort of teachers completed the learning cycle, modifications and adjustments were made to lesson materials in an attempt to improve their effectiveness with the second cohort. Fourteen teachers participated in the study, including master special educators (n=3), special education instructors (n=5), and classroom assistants (n=6). Thirty-one students participated in the study (21 boys and 10 girls), ranging in age from 5 to 12 years (M = 9 years). Twenty-one students had a diagnosis of ASD, 20 had a diagnosis of mild or moderate ID, with 13 of these students having both ASD and ID. The remaining students had diagnosed language disorders. To evaluate the effectiveness of the implementation approach, both student and teacher data was collected. Student data included pre- and post-tests of math word problem solving. Teacher data included fidelity of treatment checklists and pre-post surveys of teacher attitudes and efficacy for teaching problem solving. Finally, artifacts were collected throughout the learning cycle. Results from cohort 1 and cohort 2 revealed similar outcomes. Students improved in the number of word problems they answered correctly and in the number of problem-solving steps completed independently. Fidelity of treatment data showed that teachers implemented SBI with acceptable levels of fidelity (M = 86%). Teachers also reported increases in the amount of time spent teaching problem solving, their confidence in teaching problem solving and their perception of students’ ability to solve math word problems. The artifacts collected during instruction indicated that teachers made modifications to allow their students to access the materials and to show what they knew. These findings are in line with research that shows student learning can improve when teacher professional development is provided over an extended period of time, actively involves teachers, and utilizes a variety of learning methods in classroom contexts. Further research is needed to evaluate whether these gains in teacher instruction and student achievement can be maintained over time once the professional development is completed.Keywords: implementation science, mathematics problem solving, research-to-practice gap, schema based instruction
Procedia PDF Downloads 1258 The Effects of Science, Technology, Engineering and Math Problem-Based Learning on Native Hawaiians and Other Underrepresented, Low-Income, Potential First-Generation High School Students
Authors: Nahid Nariman
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The prosperity of any nation depends on its ability to use human potential, in particular, to offer an education that builds learners' competencies to become effective workforce participants and true citizens of the world. Ever since the Second World War, the United States has been a dominant player in the world politically, economically, socially, and culturally. The rapid rise of technological advancement and consumer technologies have made it clear that science, technology, engineering, and math (STEM) play a crucial role in today’s world economy. Exploring the top qualities demanded from new hires in the industry—i.e., problem-solving skills, teamwork, dependability, adaptability, technical and communication skills— sheds light on the kind of path that is needed for a successful educational system to effectively support STEM. The focus of 21st century education has been to build student competencies by preparing them to acquire and apply knowledge, to think critically and creatively, to competently use information, be able to work in teams, to demonstrate intellectual and moral values as well as cultural awareness, and to be able to communicate. Many educational reforms pinpoint various 'ideal' pathways toward STEM that educators, policy makers, and business leaders have identified for educating the workforce of tomorrow. This study will explore how problem-based learning (PBL), an instructional strategy developed in the medical field and adopted with many successful results in K-12 through higher education, is the proper approach to stimulate underrepresented high school students' interest in pursuing STEM careers. In the current study, the effect of a problem-based STEM model on students' attitudes and career interests was investigated using qualitative and quantitative methods. The participants were 71 low-income, native Hawaiian high school students who would be first-generation college students. They were attending a summer STEM camp developed as the result of a collaboration between the University of Hawaii and the Upward Bound Program. The project, funded by the National Science Foundation's Innovative Technology Experiences for Students and Teachers (ITEST) program, used PBL as an approach in challenging students to engage in solving hands-on, real-world problems in their communities. Pre-surveys were used before camp and post-surveys on the last day of the program to learn about the implementation of the PBL STEM model. A Career Interest Questionnaire provided a way to investigate students’ career interests. After the summer camp, a representative selection of students participated in focus group interviews to discuss their opinions about the PBL STEM camp. The findings revealed a significantly positive increase in students' attitudes towards STEM disciplines and STEM careers. The students' interview results also revealed that students identified PBL to be an effective form of instruction in their learning and in the development of their 21st-century skills. PBL was acknowledged for making the class more enjoyable and for raising students' interest in STEM careers, while also helping them develop teamwork and communication skills in addition to scientific knowledge. As a result, the integration of PBL and a STEM learning experience was shown to positively affect students’ interest in STEM careers.Keywords: problem-based learning, science education, STEM, underrepresented students
Procedia PDF Downloads 1247 Experiences of Discrimination and Coping Strategies of Second Generation Academics during the Career-Entry Phase in Austria
Authors: R. Verwiebe, L. Seewann, M. Wolf
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This presentation addresses marginalization and discrimination as experienced by young academics with a migrant background in the Austrian labor market. Focusing on second generation academics of Central Eastern European and Turkish descent we explore two major issues. First, we ask whether their career-entry and everyday professional life entails origin-specific barriers. As educational residents, they show competences which, when lacking, tend to be drawn upon to explain discrimination: excellent linguistic skills, accredited high-level training, and networks. Second, we concentrate on how this group reacts to discrimination and overcomes experiences of marginalization. To answer these questions, we utilize recent sociological and social psychological theories that focus on the diversity of individual experiences. This distinguishes us from a long tradition of research that has dealt with the motives that inform discrimination, but has less often considered the effects on those concerned. Similarly, applied coping strategies have less often been investigated, though they may provide unique insights into current problematic issues. Building upon present literature, we follow recent discrimination research incorporating the concepts of ‘multiple discrimination’, ‘subtle discrimination’, and ‘visual social markers’. 21 problem-centered interviews are the empirical foundation underlying this study. The interviewees completed their entire educational career in Austria, graduated in different universities and disciplines and are working in their first post-graduate jobs (career entry phase). In our analysis, we combined thematic charting with a coding method. The results emanating from our empirical material indicated a variety of discrimination experiences ranging from barely perceptible disadvantages to directly articulated and overt marginalization. The spectrum of experiences covered stereotypical suppositions at job interviews, the disavowal of competencies, symbolic or social exclusion by new colleges, restricted professional participation (e.g. customer contact) and non-recruitment due to religious or ethnical markers (e.g. headscarves). In these experiences the role of the academics education level, networks, or competences seemed to be minimal, as negative prejudice on the basis of visible ‘social markers’ operated ‘ex-ante’. The coping strategies identified in overcoming such barriers are: an increased emphasis on effort, avoidance of potentially marginalizing situations, direct resistance (mostly in the form of verbal opposition) and dismissal of negative experiences by ignoring or ironizing the situation. In some cases, the academics drew into their specific competences, such as an intellectual approach of studying specialist literature, focus on their intercultural competences or planning to migrate back to their parent’s country of origin. Our analysis further suggests a distinction between reactive (i.e. to act on and respond to experienced discrimination) and preventative strategies (applied to obviate discrimination) of coping. In light of our results, we would like to stress that the tension between educational and professional success experienced by academics with a migrant background – and the barriers and marginalization they continue to face – are essential issues to be introduced to socio-political discourse. It seems imperative to publicly accentuate the growing social, political and economic significance of this group, their educational aspirations, as well as their experiences of achievement and difficulties.Keywords: coping strategies, discrimination, labor market, second generation university graduates
Procedia PDF Downloads 2216 Person-Centered Thinking as a Fundamental Approach to Improve Quality of Life
Authors: Christiane H. Kellner, Sarah Reker
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The UN-Convention on the Rights of Persons with Disabilities, which Germany also ratified, postulates the necessity of user-centred design, especially when it comes to evaluating the individual needs and wishes of all citizens. Therefore, a multidimensional approach is required. Based on this insight, the structure of the town-like centre in Schönbrunn - a large residential complex and service provider for persons with disabilities in the outskirts of Munich - will be remodelled to open up the community to all people as well as transform social space. This strategy should lead to more equal opportunities and open the way for a much more diverse community. The research project “Index for participation development and quality of life for persons with disabilities” (TeLe-Index, 2014-2016), which is anchored at the Technische Universität München in Munich and at the Franziskuswerk Schönbrunn supports this transformation process called “Vision 2030”. In this context, we have provided academic supervision and support for three projects (the construction of a new school, inclusive housing for children and teenagers with disabilities and the professionalization of employees using person-centred planning). Since we cannot present all the issues of the umbrella-project within the conference framework, we will be focusing on one sub-project more in-depth, namely “The Person-Centred Think Tank” [Arbeitskreis Personenzentriertes Denken; PZD]. In the context of person-centred thinking (PCT), persons with disabilities are encouraged to (re)gain or retain control of their lives through the development of new choice options and the validation of individual lifestyles. PCT should thus foster and support both participation and quality of life. The project aims to establish PCT as a fundamental approach for both employees and persons with disabilities in the institution through in-house training for the staff and, subsequently, training for users. Hence, for the academic support and supervision team, the questions arising from this venture can be summed up as follows: (1) has PCT already gained a foothold at the Franziskuswerk Schönbrunn? And (2) how does it affect the interaction with persons with disabilities and how does it influence the latter’s everyday life? According to the holistic approach described above, the target groups for this study are both the staff and the users of the institution. Initially, we planned to implement the group discussion method for both target-groups. However, in the course of a pretest with persons with intellectual disabilities, it became clear that this type of interview, with hardly any external structuring, provided only limited feedback. In contrast, when the discussions were moderated, there was more interaction and dialogue between the interlocutors. Therefore, for this target-group, we introduced structured group interviews. The insights we have obtained until now will enable us to present the intermediary results of our evaluation. We analysed and evaluated the group interviews and discussions with the help of qualitative content analysis according to Mayring in order to obtain information about users’ quality of life. We sorted out the statements relating to quality of life obtained during the group interviews into three dimensions: subjective wellbeing, self-determination and participation. Nevertheless, the majority of statements were related to subjective wellbeing and self-determination. Thus, especially the limited feedback on participation clearly demonstrates that the lives of most users do not take place beyond the confines of the institution. A number of statements highlighted the fact that PCT is anchored in the everyday interactions within the groups. However, the implementation and fostering of PCT on a broader level could not be detected and thus remain further aims of the project. The additional interviews we have planned should validate the results obtained until now and open up new perspectives.Keywords: person-centered thinking, research with persons with disabilities, residential complex and service provider, participation, self-determination.
Procedia PDF Downloads 3235 Phenotype and Psychometric Characterization of Phelan-Mcdermid Syndrome Patients
Authors: C. Bel, J. Nevado, F. Ciceri, M. Ropacki, T. Hoffmann, P. Lapunzina, C. Buesa
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Background: The Phelan-McDermid syndrome (PMS) is a genetic disorder caused by the deletion of the terminal region of chromosome 22 or mutation of the SHANK3 gene. Shank3 disruption in mice leads to dysfunction of synaptic transmission, which can be restored by epigenetic regulation with both Lysine Specific Demethylase 1 (LSD1) inhibitors. PMS subjects result in a variable degree of intellectual disability, delay or absence of speech, autistic spectrum disorders symptoms, low muscle tone, motor delays and epilepsy. Vafidemstat is an LSD1 inhibitor in Phase II clinical development with a well-established and favorable safety profile, and data supporting the restoration of memory and cognition defects as well as reduction of agitation and aggression in several animal models and clinical studies. Therefore, vafidemstat has the potential to become a first-in-class precision medicine approach to treat PMS patients. Aims: The goal of this research is to perform an observational trial to psychometrically characterize individuals carrying deletions in SHANK3 and build a foundation for subsequent precision psychiatry clinical trials with vafidemstat. Methodology: This study is characterizing the clinical profile of 20 to 40 subjects, > 16-year-old, with genotypically confirmed PMS diagnosis. Subjects will complete a battery of neuropsychological scales, including the Repetitive Behavior Questionnaire (RBQ), Vineland Adaptive Behavior Scales, Escala de Observación para el Diagnostico del Autismo (Autism Diagnostic Observational Scale) (ADOS)-2, the Battelle Developmental Inventory and the Behavior Problems Inventory (BPI). Results: By March 2021, 19 patients have been enrolled. Unsupervised hierarchical clustering of the results obtained so far identifies 3 groups of patients, characterized by different profiles of cognitive and behavioral scores. The first cluster is characterized by low Battelle age, high ADOS and low Vineland, RBQ and BPI scores. Low Vineland, RBQ and BPI scores are also detected in the second cluster, which in contrast has high Battelle age and low ADOS scores. The third cluster is somewhat in the middle for the Battelle, Vineland and ADOS scores while displaying the highest levels of aggression (high BPI) and repeated behaviors (high RBQ). In line with the observation that female patients are generally affected by milder forms of autistic symptoms, no male patients are present in the second cluster. Dividing the results by gender highlights that male patients in the third cluster are characterized by a higher frequency of aggression, whereas female patients from the same cluster display a tendency toward higher repetitive behavior. Finally, statistically significant differences in deletion sizes are detected comparing the three clusters (also after correcting for gender), and deletion size appears to be positively correlated with ADOS and negatively correlated with Vineland A and C scores. No correlation is detected between deletion size and the BPI and RBQ scores. Conclusions: Precision medicine may open a new way to understand and treat Central Nervous System disorders. Epigenetic dysregulation has been proposed to be an important mechanism in the pathogenesis of schizophrenia and autism. Vafidemstat holds exciting therapeutic potential in PMS, and this study will provide data regarding the optimal endpoints for a future clinical study to explore vafidemstat ability to treat shank3-associated psychiatric disorders.Keywords: autism, epigenetics, LSD1, personalized medicine
Procedia PDF Downloads 1654 'Go Baby Go'; Community-Based Integrated Early Childhood and Maternal Child Health Model Improving Early Childhood Stimulation, Care Practices and Developmental Outcomes in Armenia: A Quasi-Experimental Study
Authors: Viktorya Sargsyan, Arax Hovhannesyan, Karine Abelyan
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Introduction: During the last decade, scientific studies have proven the importance of Early Childhood Development (ECD) interventions. These interventions are shown to create strong foundations for children’s intellectual, emotional and physical well-being, as well as the impact they have on learning and economic outcomes for children as they mature into adulthood. Many children in rural Armenia fail to reach their full development potential due to lack of early brain stimulation (playing, singing, reading, etc.) from their parents, and lack of community tools and services to follow-up children’s neurocognitive development. This is exacerbated by high rates of stunting and anemia among children under 3(CU3). This research study tested the effectiveness of an integrated ECD and Maternal, Newborn and Childhood Health (MNCH) model, called “Go Baby, Go!” (GBG), against the traditional (MNCH) strategy which focuses solely on preventive health and nutrition interventions. The hypothesis of this quasi-experimental study was: Children exposed to GBG will have better neurocognitive and nutrition outcomes compared to those receiving only the MNCH intervention. The secondary objective was to assess the effect of GBG on parental child care and nutrition practices. Methodology: The 14 month long study, targeted all 1,300 children aged 0 to 23 months, living in 43 study communities the in Gavar and Vardenis regions (Gegharkunik province, Armenia). Twenty-three intervention communities, 680 children, received GBG, and 20 control communities, 630 children, received MCHN interventions only. Baseline and evaluation data on child development, nutrition status and parental child care and nutrition practices were collected (caregiver interview, direct child assessment). In the intervention sites, in addition to MNCH (maternity schools, supportive supervision for Health Care Providers (HCP), the trained GBG facilitators conducted six interactive group sessions for mothers (key messages, information, group discussions, role playing, video-watching, toys/books preparation, according to GBG curriculum), and two sessions (condensed GBG) for adult family members (husbands, grandmothers). The trained HCPs received quality supervision for ECD counseling and screening. Findings: The GBG model proved to be effective in improving ECD outcomes. Children in the intervention sites had 83% higher odd of total ECD composite score (cognitive, language, motor) compared to children in the control sites (aOR 1.83; 95 percent CI: 1.08-3.09; p=0.025). Caregivers also demonstrated better child care and nutrition practices (minimum dietary diversity in intervention site is 55 percent higher compared to control (aOR=1.55, 95 percent CI 1.10-2.19, p =0.013); support for learning and disciplining practices (aOR=2.22, 95 percent CI 1.19-4.16, p=0.012)). However, there was no evidence of stunting reduction in either study arm. he effect of the integrated model was more prominent in Vardenis, a community which is characterised by high food insecurity and limited knowledge of positive parenting skills. Conclusion: The GBG model is effective and could be applied in target areas with the greatest economic disadvantages and parenting challenges to improve ECD, care practices and developmental outcomes. Longitudinal studies are needed to view the long-term effects of GBG on learning and school readiness.Keywords: early childhood development, integrated interventions, parental practices, quasi-experimental study
Procedia PDF Downloads 172