The Family Faced with a Genetic Syndrome: Systematic Literature Review

Abstract

Introduction: The occurrence of a genetic alteration or syndrome in a child is never expected by a family. Such a discovery implies diverse changes, mainly for the caregivers.

Objective: The aim of this study was to identify, through a systematic literature review, the aspects involved in the family faced with a genetic syndrome or alteration in children.

Method: The study consisted of a systematic review of the literature on family and genetic syndromes. The searches were performed in the LILACS, SciELO and PePSIC databases. Six combinations of terms were used in each of the databases: família AND doença genética; família AND síndrome rara; família AND doença rara; síndrome genética AND parentalidade; doença rara AND parentalidade; anomalia congênita AND família.

Results: 732 articles were found, of which 11 were selected after applying the inclusion and exclusion criteria. The articles addressed subjects that were grouped into two categories: therapeutic trajectories and seeking diagnoses.

Conclusions: The articles highlight that the child with a genetic alteration or syndrome has an impact on the family, particularly with regard to seeking specialized care. Studies that investigate family dynamics, parenting and emotional and affective aspects of parents were found to be necessary.