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Children with Apert Syndrome as Adults: A Follow-Up Study of 28 Scandinavian Patients

Tovetjärn, Robert M.D.; Tarnow, Peter M.D., Ph.D.; Maltese, Giovanni M.D.; Fischer, Sara M.D.; Sahlin, Per-Erik M.D., Ph.D.; Kölby, Lars M.D., Ph.D.

Plastic and Reconstructive Surgery: October 2012 - Volume 130 - Issue 4 - p 572e–576e
doi: 10.1097/PRS.0b013e318262f355
Pediatric/Craniofacial: Original Articles

Background: Apert syndrome (acrocephalosyndactyly type 1) includes craniofacial deformities, malformations of the extremities and the central nervous system, and often mental retardation. The aim of this study was to investigate the life situation of adult patients with Apert syndrome.

Methods: Thirty-three patients with Apert syndrome born before 1990 were identified in the Göteborg craniofacial registry. The authors used a questionnaire mainly dealing with education, employment, social relations, and quality of life. A matched control group was created for comparison.

Results: Five of the patients had died. Twenty-four of the remaining patients answered the questionnaire. The level of education was lower in patients than in controls (p = 0.007), but there was no significant difference in the extent of employment between the two groups. The difference in housing was significant (p < 0.001) and the majority of patients lived with their parents. Patients were less often married (p < 0.001), had fewer friends (p < 0.001), and had less experience with sexual relationships (p < 0.001). The somatic health was lower in patients [e.g., they had more hearing problems (p < 0.001) and more epilepsy (p = 0.005)]. Depressive mood periods were more common in patients (p < 0.001), but there was no difference between the groups regarding a generally positive attitude toward life.

Conclusions: This study shows that patients with Apert syndrome manage relatively well in adulthood. The discrepancy in social relations between the Apert patients and the healthy control group indicates that further improvement of the treatment is desirable.

Göteborg, Sweden

From the Department of Plastic Surgery, Institute for Clinical Sciences, University of Göteborg, Sahlgrenska University Hospital.

Received for publication April 9, 2012; accepted April 11, 2012.

Disclosure:The authors have no financial interest to declare in relation to the content of this article.

Lars Kölby, M.D., Ph.D., Department of Plastic Surgery, Institute for Clinical Sciences, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden,

©2012American Society of Plastic Surgeons