Desarrollo cognitivo y habilidades sociales en un niño con síndrome de Apert.

Abstract

Apert syndrome (AS) or acrocephalosyndactyly is a condition that produces craniofacial malformations such as early closure of the cranial sutures, characteristics that are accompanied by a series of functional problems such as cardiorespiratory difficulties, mental deficiency, blindness, hearing loss, language difficulties, motor skills, among others. It should be noted that these anomalies vary from one patient to another, since research explains that the complexity of Apert syndrome implies great challenges, not only for the educational sector, but also for the health sector, which is why it is very important that these two areas work together. The main cause of A.S. is caused by genetic craniosynostosis due to mutations of adjacent amino acids that occur for no reason, however, with the passage of time, great progress has been made in the detection, evaluation and identification of several mutations associated with this condition. There are other typologies associated with A.S., the same that have in common their primary cause in the mutations of the genes "FGFR1 and FGFR2", but they differ according to their severity and level of involvement, these typologies are: Pfeiffer syndrome, Crouzon syndrome, Muenke syndrome, Jackson-Weiss syndrome and Beare-Stevenson syndrome. It is important for the educational society to get involved in the teaching-learning process of children with little known syndromes such as Apert syndrome. Therefore, the research question of this case study is: What is the cognitive development and social skills of a child with Apert syndrome? Therefore, this research is conducted in the city of Machala, where the protagonist is a student who attends a specialized institution. The research is based on the theory of the Zone of Proximal Development (ZDP), which we have compared and connected with our object of study because it is the way in which the child with Apert syndrome feels stimulated and motivated to perform tasks, since he needs interaction and guidance to develop his cognition in the social environment. Eugene Apert, in 1906, identified a group of people in a community with these characteristics, and so the syndrome was named after him. To enhance the socio-cognitive area of a student with A.S. it is essential that the institution has adequate spaces and properly trained staff in this case the interdisciplinary team, because these are the professionals responsible for providing appropriate psycho-pedagogical strategies to teachers and family achieving effective commitment in the teaching-learning process of the child. In order to carry out this research, the qualitative paradigm is used with the case study method applying techniques (observation - interview), tools such as the "Raven" test and the Adaptive Skills Tests that provide answers to the questions posed regarding the research objective, which is to describe the cognitive development and social skills of a child with Apert Syndrome. Key bidirectional categories are addressed that highlight the reality of our object of study, on the one hand, cognitive development is mentioned and on the other hand, social skills. The information is subject to the results of the techniques and instruments applied, where it can be concluded that the development of cognitive and social skills in a child with Apert syndrome is adequate. On the one hand, the level reached in its development has depended on the arduous commitment of parents and teachers, to determine its autonomy and development in different environments, whether academic, social and family.