Family perspectives regarding Phelan-McDermid syndrome: a case study in the context of Mexico.

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.