Apert syndrome: quality of life and challenges of a management protocol in Brazil.

Apert syndrome is a complex craniofacial deformity with a broad clinical spectrum that mainly affects the craniofacial skeleton, lower and upper limbs. The quality of life for patients born with Apert syndrome may be strongly affected by the limitations that this syndrome imposes. The aims of this study were to describe the quality of life of patients born with Apert syndrome and the challenges of managing an Apert protocol in Brazil. The quality of life of 8 Apert patients who adhered to our management protocol was assessed using the Portuguese version of WHOQOL-100 (World Health Organization Quality of Life instrument). The answers were submitted to SPSS (Statistic Package for Social Science), and results were expressed in 25 facets and 6 domains (physical, psychological, social relations, level of independence, environment, and spirituality). Patients and families signed an informed consent, and the study was previously approved by our institutional review board. The cohort of patients scored 60 in 22 of 25 facets, with no grade less than 50. The facet of positive feelings note was 76.79; self-esteem and body image scored, respectively, 75.00 and 85.71. When the facets were grouped into domains, they had a high overall score. The cohort of Apert patients presented a satisfactory quality of life. This cohort of Apert patients acquired the necessary repertoire to manage the aversive daily situations of their lives.