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Cited by 94Family and Disability Support ResearchGenomics and Rare DiseasesConnective tissue disorders research

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

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von der Lippe, Charlotte, Neteland, Ingrid, Feragen, Kristin Billaud·2022·Orphanet Journal of Rare Diseases
DOI 10.1186/s13023-022-02525-0PMC PMC9575260
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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.

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Cited by

Sorted by citations

Authors
von der Lippe, C., Neteland, I., & Feragen, K. B.
Affiliations
Oslo University Hospital (NO)
ORCID
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2022-10-17
Volume
17
Issue
1
Pages
375-375
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/s13023-022-02525-0
PMC
PMC9575260
OpenAlex
W4306403339
Cited by
94
References
7
Citations by year
2026: 26 · 2025: 30 · 2024: 24 · 2023: 13 · 2022: 1
FWCI
2.68
Type
journal article
Language
en
Open access
Licence
Locations
  • Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Keywords
rare genetic disorders, parental experiences, health care experiences, parental responsibility, care coordination, international cooperation
MeSH terms
Child, Chronic Disease, Family, Humans, Parents, Rare Diseases, Qualitative Research

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