View in EDS

Perspectivas familiares respecto al síndrome Phelan-McDermid: estudio de un caso en el contexto de México.

Saved in:
Bibliographic Details
Title: Perspectivas familiares respecto al síndrome Phelan-McDermid: estudio de un caso en el contexto de México.
Alternate Title: Family perspectives regarding Phelan-McDermid syndrome: a case study in the context of Mexico.
Authors: Domínguez Barrios, María José1 0223848@up.edu.mx, Pérez González, Damara Jocelin2 0237293@up.edu.mx, de Castro de Léon, Javier Fernández3 jfernandezc@up.edu.mx
Source: Dilemas Contemporáneos: Educación, Política y Valores. may2024, Vol. 11 Issue 3, p1-17. 17p.
Subject Terms: *Cognitive development, *Motor ability, Family policy, Genetic disorders, Chromosomes, Suffering
Abstract (English): Phelan McDermid syndrome (SPMD) is a genetic disorder characterized by a loss of material on chromosome 22q13. People who suffer from it show alterations in physical, motor and cognitive development. The objective of this work is to investigate the perceptions of the members of a Mexican family regarding the implications of having a family member diagnosed with SPMD; For this, a qualitative study was developed, with the interpretive framework of the case study. The members of a family from the State of Aguascalientes (Mexico) with a diagnosed member participated, who were interviewed in depth. The findings identify family unity, supernatural vision, acceptance and recognition of learning. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): El síndrome Phelan McDermid (SPMD) es un desorden genético que se caracteriza por una pérdida de material en el cromosoma 22q13. Las personas que lo padecen muestran alteraciones en el desarrollo físico, motor y cognitivo. El objetivo de este trabajo es indagar sobre las percepciones de los integrantes de una familia mexicana respecto a las implicaciones que conlleva tener a un familiar diagnosticado con SPMD; para ello, se desarrolló un estudio cualitativo, con el marco interpretativo del estudio de caso. Participaron los integrantes de una familia del Estado de Aguascalientes (México) con un integrante diagnosticado, a quienes se les entrevistó en profundidad. Como hallazgos se identifica la unión familiar, la visión sobrenatural, la aceptación y el reconocimiento de aprendizajes. [ABSTRACT FROM AUTHOR]
Copyright of Dilemas Contemporáneos: Educación, Política y Valores is the property of Dilemas Contemporaneos: Educacion, Politica y Valores and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Education Research Complete
Description
Abstract:Phelan McDermid syndrome (SPMD) is a genetic disorder characterized by a loss of material on chromosome 22q13. People who suffer from it show alterations in physical, motor and cognitive development. The objective of this work is to investigate the perceptions of the members of a Mexican family regarding the implications of having a family member diagnosed with SPMD; For this, a qualitative study was developed, with the interpretive framework of the case study. The members of a family from the State of Aguascalientes (Mexico) with a diagnosed member participated, who were interviewed in depth. The findings identify family unity, supernatural vision, acceptance and recognition of learning. [ABSTRACT FROM AUTHOR]
ISSN:20077890