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Orphanet J Rare Dis ; 17(1): 375, 2022 10 17.
Artículo en Inglés | MEDLINE | ID: mdl-36253830

RESUMEN

BACKGROUND: Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address the lack of generalized and synthesized knowledge regarding parents' experiences of having a child with a rare genetic disorder, and give a holistic picture of these experiences, a systematic review of the available qualitative research was conducted. METHODS: We performed a systematic review, including qualitative studies on parents of children with rare genetic disorders, published between 2000 and 2020. RESULTS: The review included 33 qualitative studies. Findings were synthesized and categorized according to three main themes: Parents' experiences with health care, Responsibilities and challenges, and Factors promoting positive experiences in parents. The findings demonstrate that parents of children with rare genetic disorders share many common challenges, despite evident differences across conditions. CONCLUSION: Coordinated care, and a more holistic approach in the follow up of children with rare genetic disorders is needed. International collaboration on research, diagnostics, producing scientific correct and understandable information available for health care professionals and lay people should be prioritized.


Asunto(s)
Familia , Padres , Niño , Enfermedad Crónica , Humanos , Investigación Cualitativa , Enfermedades Raras/genética
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