Patient-reported quality of life in highest-functioning Apert and Crouzon syndromes: a comparative study.

Abstract

BACKGROUND:

Crouzon and Apert syndromes are the most common syndromic forms of craniofacial dysostosis. Apert syndrome has a broad clinical spectrum, including complex craniofacial involvement, as well as limiting deformities of the hands, feet, and other joints that require multiple surgical procedures when compared with Crouzon syndrome, which is generally less severe. The authors hypothesized that the quality of life of Apert syndrome patients is inferior to that of Crouzon syndrome patients.

METHODS:

The quality of life of Apert (n = 8) and Crouzon (n = 12) syndrome patients was assessed using the World Health Organization Quality of Life-100 questionnaire. The Mann-Whitney test was used to compare the quality-of-life scores between Apert and Crouzon patients. Values were considered significant for a confidence interval of 95 percent (p < 0.05).

RESULTS:

Apert patients showed an overall higher (score > 60 percent) quality of life in most World Health Organization Quality of Life-100 facets (68 percent) and domains (83.33 percent), with significance (p < 0.05) in three facets (energy and fatigue, mobility, and environment in the home), compared with Crouzon patients.

CONCLUSION:

Contrary to the authors' initial hypothesis, both the highest-functioning Apert patients and the Crouzon patients presented a satisfactory quality of life, demonstrating that these syndromic patients had acquired the necessary repertoire to manage the adverse daily situations of their lives.

• Authors: Cassio Eduardo Raposo-Amaral, José Garcia Junqueira Neto, Rafael Denadai, Cassio Menezes Raposo-Amaral, Cesar Augusto Raposo-Amaral
• Journal: Plastic and reconstructive surgery (Plast Reconstr Surg) Vol. 133 Issue 2 Pg. 182e-191e (Feb 2014) ISSN: 1529-4242 [Electronic] United States
• PMID: 24469189 (Publication Type: Comparative Study, Journal Article, Observational Study)

Topics

• Acrocephalosyndactylia (diagnosis, physiopathology)
• Adolescent
• Adult
• Child
• Craniofacial Dysostosis (diagnosis, physiopathology)
• Diagnostic Self Evaluation
• Female
• Humans
• Male
• Phenotype
• Quality of Life
• Retrospective Studies
• Young Adult