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
FullText Text:
  Availability: 0
Header DbId: ehh
DbLabel: Education Research Complete
An: 178203218
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Perspectivas familiares respecto al síndrome Phelan-McDermid: estudio de un caso en el contexto de México.
– Name: TitleAlt
  Label: Alternate Title
  Group: TiAlt
  Data: Family perspectives regarding Phelan-McDermid syndrome: a case study in the context of Mexico.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Domínguez+Barrios%2C+María+José%22">Domínguez Barrios, María José</searchLink><relatesTo>1</relatesTo><i> 0223848@up.edu.mx</i><br /><searchLink fieldCode="AR" term="%22Pérez+González%2C+Damara+Jocelin%22">Pérez González, Damara Jocelin</searchLink><relatesTo>2</relatesTo><i> 0237293@up.edu.mx</i><br /><searchLink fieldCode="AR" term="%22de+Castro+de+Léon%2C+Javier+Fernández%22">de Castro de Léon, Javier Fernández</searchLink><relatesTo>3</relatesTo><i> jfernandezc@up.edu.mx</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Dilemas+Contemporáneos%3A+Educación%2C+Política+y+Valores%22">Dilemas Contemporáneos: Educación, Política y Valores</searchLink>. may2024, Vol. 11 Issue 3, p1-17. 17p.
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: *<searchLink fieldCode="DE" term="%22Cognitive+development%22">Cognitive development</searchLink><br />*<searchLink fieldCode="DE" term="%22Motor+ability%22">Motor ability</searchLink><br /><searchLink fieldCode="DE" term="%22Family+policy%22">Family policy</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosomes%22">Chromosomes</searchLink><br /><searchLink fieldCode="DE" term="%22Suffering%22">Suffering</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: 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]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: 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]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>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.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=ehh&AN=178203218
RecordInfo BibRecord:
  BibEntity:
    Languages:
      – Code: spa
        Text: Spanish
    PhysicalDescription:
      Pagination:
        PageCount: 17
        StartPage: 1
    Subjects:
      – SubjectFull: Cognitive development
        Type: general
      – SubjectFull: Motor ability
        Type: general
      – SubjectFull: Family policy
        Type: general
      – SubjectFull: Genetic disorders
        Type: general
      – SubjectFull: Chromosomes
        Type: general
      – SubjectFull: Suffering
        Type: general
    Titles:
      – TitleFull: Perspectivas familiares respecto al síndrome Phelan-McDermid: estudio de un caso en el contexto de México.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Domínguez Barrios, María José
      – PersonEntity:
          Name:
            NameFull: Pérez González, Damara Jocelin
      – PersonEntity:
          Name:
            NameFull: de Castro de Léon, Javier Fernández
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: may2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 20077890
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Dilemas Contemporáneos: Educación, Política y Valores
              Type: main
ResultId 1