Cuando el diagnóstico llega tarde: impacto psicológico en enfermedades raras infantiles
El cribdo neonatal en enfermedades raras infantiles
DOI:
https://doi.org/10.65598/rps.6078Palavras-chave:
Enfermedades raras, cribado neonatal, retraso diagnóstico, Impacto psicológicoResumo
Introducción. El diagnóstico tardío de enfermedades raras en la infancia constituye un problema relevante de salud pública con importantes repercusiones clínicas y psicosociales. La ausencia de detección precoz prolonga la incertidumbre diagnóstica y puede generar un impacto psicológico significativo en los menores y sus familias. El cribado neonatal representa una herramienta clave para la detección temprana y puede actuar como factor protector frente al malestar emocional asociado al retraso diagnóstico. El objetivo de este estudio fue analizar el impacto psicológico del diagnóstico tardío de enfermedades raras en la infancia y el papel protector del cribado neonatal. Método. Se realizó una revisión sistemática siguiendo las recomendaciones PRISMA. La búsqueda se llevó a cabo en MEDLINE, Psychology and Behavioral Sciences Collection, APA PsycInfo, Scopus y OpenAIRE. Se incluyeron estudios empíricos publicados en español o inglés durante los últimos cinco años. La calidad metodológica se evaluó mediante las herramientas AXIS y CRF-QS. Resultados. Se incluyeron 24 estudios. El diagnóstico tardío se asoció con mayores niveles de estrés, ansiedad y sobrecarga emocional parental, así como con menor calidad de vida familiar. La incertidumbre diagnóstica y las dificultades de acceso a recursos sanitarios y psicológicos fueron factores relevantes. Conclusiones. El diagnóstico tardío tiene un impacto psicológico significativo, mientras que el cribado neonatal actúa como factor protector al reducir la incertidumbre y facilitar la adaptación familiar.
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