Cuando el diagnóstico llega tarde: impacto psicológico en enfermedades raras infantiles : El cribdo neonatal en enfermedades raras infantiles

Ana Muiño Tato; Verónica Vaquer; Albert Marquès-Donoso; Leonor Sierra Macarrón

doi:10.65598/rps.6078

Authors

Ana Muiño Tato Universidad Villanueva
Verónica Vaquer Psicóloga sanitaria
Albert Marquès-Donoso Universidad Oberta de Catalunya, España https://orcid.org/0000-0001-9538-7196
Leonor Sierra Macarrón Universidad de Castilla-La Mancha, España https://orcid.org/0000-0001-9789-9312

DOI:

https://doi.org/10.65598/rps.6078

Keywords:

Rare diseases, neonatal screening, dianosis delay, Psychological impact

Abstract

Introduction. Delayed diagnosis of rare diseases in childhood represents a significant public health issue with important clinical and psychosocial implications. The absence of early detection prolongs diagnostic uncertainty and may generate a significant psychological impact on children and their families. Neonatal screening represents a key tool for early detection and may act as a protective factor against the emotional distress associated with diagnostic delay. The aim of this study was to analyse the psychological impact of delayed diagnosis of rare diseases in childhood and the protective role of neonatal screening. Method. A systematic review was conducted following PRISMA recommendations. The search was carried out in MEDLINE, Psychology and Behavioral Sciences Collection, APA PsycInfo, Scopus and OpenAIRE. Empirical studies published in English or Spanish during the last five years were included. Methodological quality was assessed using the AXIS and CRF-QS tools. Results. Twenty-four studies were included. Delayed diagnosis was associated with higher levels of parental stress, anxiety and emotional burden, as well as poorer family quality of life. Diagnostic uncertainty and difficulties in accessing healthcare and psychological resources emerged as relevant factors. Conclusions. Delayed diagnosis has a significant psychological impact, whereas neonatal screening acts as a protective factor by reducing uncertainty and facilitating family adaptation.

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