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Πέμπτη 24 Ιανουαρίου 2019

Long-term functional upper-extremity outcomes in adults with Apert Syndrome

Background: The goal of this study was to determine upper extremity function and health-related quality of life in a cohort of adults with Apert Syndrome. Methods: Twenty-two adults with Apert Syndrome completed the Disabilities of the Arm, Shoulder, and Hand (DASH) survey, the Short Form 36 (SF-36), and a semi-structured interview. One surgeon administered the Jebsen Hand Function Test (JHFT) and measured sensation, joint motion, and strength. Results: Median DASH score was 16.9 (IQR: 4.17-24.2) which indicated slightly greater disability than the population norm of 10.1. Median SF-36 scores were 54.5 (IQR: 43.0-61.0) for mental health and 57.0 (IQR: 46.0-59.0) for physical health – both more favorable than population norms. Total JHFT scores for dominant hand were 69.2 seconds for males and 64.7 seconds for females versus 37.8 seconds for population norms of both genders. Average lateral pinch strength was 61% of norms in males and 90% of norms in females. Average chuck pinch strength was 48% of norms in males and 78% of norms in females. More complex syndactyly resulted in worse metacarpophalangeal joint motion but no significant difference in DASH, SF-36, or other functional results. There was no difference in self-reported outcomes between patients with four (n = 8) versus five digits (n = 14) in each hand. Conclusions: In this cohort of adults with Apert syndrome, self-reported assessment of disability was more favorable than measured functional data would suggest. Despite significant functional deficits, the participants in this study had adapted remarkably well. Please note that Amir Taghinia and Rachel Yorlets are co-first authors. Corresponding Author: Amir H. Taghinia, MD, MPH, MBA, Boston Children's Hospital, Department of Plastic & Oral Surgery, 300 Longwood Avenue, Boston, Massachusetts 02115 USA. amir.taghinia@childrens.harvard.edu, +1 (617) 355-3421 Financial Disclosure Statement: We have nothing to disclose. No funding was received for this manuscript. Authorship Contributions: AHT conceived of the study, performed functional assessments on enrolled patients, and contributed to writing the manuscript. RRY analyzed the data. RRY and MD recruited and enrolled subjects, created the interview guide, collected all non-functional data, created figures, and contributed to writing the manuscript. BIL contributed to the design of the study and writing of the manuscript. JU contributed to the design of the study, identification of participants, procurement of figures, writing of the manuscript, and provided high-level guidance on clinical applicability. All authors provided critical revisions. Acknowledgements: The authors thank the study subjects who participated in the study. ©2019American Society of Plastic Surgeons

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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,

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