Search results for: autismo

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

Abstract:

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

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

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Authors: Maria Campos, Alain Massart, Hugo Sarmento

Abstract:

The Meter Matters Erasmus Sport European Project (ID: 101050372) explores the field of social inclusion in and through sports with the aim of a) proposing appropriate criteria for co-funding sports programs involving people with intellectual and developmental disabilities and other more vulnerable people, primarily in mainstream sports organizations and b) proposing a model for co-funding social inclusion in and through sports at the national level. This European project (2022-2024) involves 6 partners from 3 countries: Univerza V Ljubljani – coordinator and Drustvo Specialna Olimpiada Slovenije (Slovenia); Magyar Specialis Olimpia Szovetseg and Magyar Testnevelesi Es Sporttudomanyi Egyetem (Hungary) and APPDA Coimbra - Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo and Universidade De Coimbra, Faculty of Sport Sciences and Physical Education (Portugal). Equal involvement of all people in sports activities is, in terms of national and international guidelines, enshrined in some conventions and strategies in the field of sports, as well as human rights, social security, physical and mental health, architecture, environment and public administration. However, there is a gap between the practice and EU guidelines in terms of sustainable support for socially inclusive sports programs in the form of co-funding by state and local (municipal) resources. We observe considerable opacity in the regulation of the field. Given that there are both relevant programs and inclusive legislation and policies, we believe that the reason for the missing article is reflected in the undeveloped criteria for measuring social inclusion in sports. Major sports programs are usually co-funded based on crowds (number of involved athletes) and performance (sports score). In the field of social inclusion in sports, the criteria cannot be the same, as it is a smaller population. Therefore, the goals of inclusion in sports should not be the focused on competitive results but on opening equal opportunities for all, regardless of their psychophysical abilities. In the Meter Matters program, we are searching for criteria for co-funding social inclusion in sports through focus groups with coaches, social workers, psychologists and others professionals involved in inclusive sports programs in regular sports clubs and with athletes and their parents or guardians. Moreover, experts in the field of social inclusion in sports were also interviewed. Based on the proposals for measuring social inclusion in sports, we developed a model for co-funding socially inclusive sports programs.

Keywords: European project, meter matters, inclusion, sport

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Authors: C. Bel, J. Nevado, F. Ciceri, M. Ropacki, T. Hoffmann, P. Lapunzina, C. Buesa

Abstract:

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 133