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Orphanet Journal of Rare Diseases

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Open Access 01-12-2022 | Care | Review

Children with a rare congenital genetic disorder: a systematic review of parent experiences

Authors: Charlotte von der Lippe, Ingrid Neteland, Kristin Billaud Feragen

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

Abstract

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.

Available only for authorised users

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Title: Children with a rare congenital genetic disorder: a systematic review of parent experiences
Authors: Charlotte von der Lippe
Ingrid Neteland
Kristin Billaud Feragen
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Care
Published in: Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-022-02525-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Children with a rare congenital genetic disorder: a systematic review of parent experiences

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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