Moving beyond surgical excellence: a qualitative systematic review into the perspectives and experiences of children, adolescents, and adults living with a rare congenital craniofacial condition and their parents

Authors

  • Mariët Faasse Dutch National Patient and Parents Society for congenital craniofacial conditions, Landelijke Patienten- en Oudervereniging voor Schedel- en/of Aangezichtsaandoeningen, (LAPOSA), ePAG ERN CRANIO, the Netherlands; Erasmus School of Health Policy and Management, Health Care Governance, Erasmus University, Rotterdam, the Netherlands
  • Hester M. van de Bovenkamp Erasmus School of Health Policy and Management, Health Care Governance, Erasmus University, Rotterdam, the Netherlands
  • Karolijn Dulfer Intensive Care Unit, Department of Paediatrics and Paediatric Surgery, Erasmus Medical Centre, Sophia Children’s Hospital, Rotterdam, the Netherlands
  • Virginie Kauffman Patient and Parent Society for syndromic craniosynostosis, Les P’tits Courageaux, ePAG ERN CRANIO, France
  • Ivana Marinac Rare Disease Croatia, Hrvatski Savez za rijetke bolesti, ePAG ERN CRANIO, Croatia
  • Veronica Leonardi Patient and Parent Craniosynostosis Society, Associazione Craniostenosi AICRA, ePAG ERN CRANIO, Italy
  • Gareth Davies European Cleft Organisation, ePAG ERN CRANIO, the Netherlands
  • Philippe Pakter Pierre Robin Europe, ePAG ERN CRANIO, Switzerland
  • Jana Angelova Patient Society for cleft lip and palate, Association ALA, ePAG ERN CRANIO, Bulgaria
  • Karen Wilkinson-Bell Headlines Craniofacial Support, ePAG ERN CRANIO, United Kingdom
  • Lars Kölby Plastic Surgery, Sahlgrenska University Hospital, member ERN CRANIO, Göteborg, Sweden
  • Marizela Kljajić Plastic Surgery, Sahlgrenska University Hospital, member ERN CRANIO, Göteborg, Sweden

DOI:

https://doi.org/10.2340/jphs.v60.42953

Keywords:

Patient experience, parent-child relations, craniofacial abnormalities, craniosynostosis, craniofacial microsomia, microtia, facial dysostosis, craniofacial surgery, quality of life, systematic review, qualitative research

Abstract

This qualitative systematic review aims to get a better understanding of what it means to live with a rare congenital craniofacial condition according to patients and their parents. Eight patient representatives provided input to this study. After a systematic search, 1,291 studies were screened and 32 qualitative and mixed methods articles (> 691 participants) were included. ENhancing Transparency in REporting the synthesis of Qualitative research (ENTREQ), Cochrane, and COnsolidated criteria for REporting Qualitative research (COREQ) checklists were used for reporting qualitative evidence synthesis and assessment of reporting of included studies. Studies predominantly included parents’ perspectives and used mixed samples of diagnosis and sometimes combined the parent and patient perspectives. The results sections of the articles were analyzed inductively using Thematic Synthesis (i.e. line-by-line coding, generating descriptive and analytical themes). Five analytical themes were identified that describe experiences and perspectives: (1) Healthcare experiences, (2) Raising and Growing up, (3) Development of character, (4) Physical impact of the condition, and (5) Social experiences. Underlying themes illustrate that the different aspects throughout life are intertwined, that relationships in all different domains play an important role in shaping perspectives, and that experiences may change over time. Furthermore, it demonstrates that living with a craniofacial condition and undergoing treatment is multifaceted and that the perspectives of patients and parents may differ. In conclusion, well-being and quality of life of patients and their parents are dependent on many different aspects, and surgeons and other healthcare professionals should tailor their skills, expertise, and support to individual-specific needs besides medical indications and move beyond surgical excellence.

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Published

2025-02-25

How to Cite

Faasse, M., M. van de Bovenkamp, H., Dulfer, K., Kauffman, V., Marinac, I., Leonardi, V., … Kljajić, M. (2025). Moving beyond surgical excellence: a qualitative systematic review into the perspectives and experiences of children, adolescents, and adults living with a rare congenital craniofacial condition and their parents. Journal of Plastic Surgery and Hand Surgery, 60(1), 51–66. https://doi.org/10.2340/jphs.v60.42953

Issue

Vol. 60 (2025)

Section

Review Articles

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Copyright (c) 2025 Mariët Faasse, Hester M. van de Bovenkamp, Karolijn Dulfer, Virginie Kauffman, Ivana Marinac, Veronica Leonardi, Gareth Davies, Philippe Pakter, Jana Angelova, Karen Wilkinson-Bell, Lars Kölby, Marizela Kljajić

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Acta Chirurgica Scandinavica Society owns the copyright for all material published until Volume 57 (2023) unless otherwise specified. As from 2024 all published articles, unless otherwise specified, are published under CC-BY licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, with the condition of proper attribution to the original work. 

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