Document Detail

Children with Apert syndrome as adults: a follow-up study of 28 Scandinavian patients.
MedLine Citation:
PMID:  23018718     Owner:  NLM     Status:  MEDLINE    
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.
Robert Tovetjärn; Peter Tarnow; Giovanni Maltese; Sara Fischer; Per-Erik Sahlin; Lars Kölby
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Plastic and reconstructive surgery     Volume:  130     ISSN:  1529-4242     ISO Abbreviation:  Plast. Reconstr. Surg.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-09-28     Completed Date:  2012-12-14     Revised Date:  2014-10-13    
Medline Journal Info:
Nlm Unique ID:  1306050     Medline TA:  Plast Reconstr Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  572e-576e     Citation Subset:  AIM; IM    
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MeSH Terms
Acrocephalosyndactylia / diagnosis*,  psychology,  therapy*
Adaptation, Physiological
Adaptation, Psychological
Cross-Sectional Studies
Disability Evaluation*
Educational Status
Employment / statistics & numerical data
Follow-Up Studies
Interpersonal Relations
Logistic Models
Monitoring, Physiologic / methods
Quality of Life*
Reference Values
Time Factors
Young Adult

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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