Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome

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.

Twenty-two adults with Apert syndrome completed the Disabilities of the Arm, Shoulder, and Hand survey; the 36-Item Short-Form Health Survey; and a semistructured interview. One surgeon administered the Jebsen Hand Function Test and measured sensation, joint motion, and strength.

Median Disabilities of the Arm, Shoulder, and Hand score was 16.9, which indicated slightly greater disability than the population norm of 10.1. Median 36-Item Short-Form Health Survey scores were 54.5 for mental health and 57.0 for physical health-both more favorable than population norms. Total Jebsen Hand Function Test scores for dominant hand were 69.2 seconds for men and 64.7 seconds for women versus 37.8 seconds for population norms of both sexes. More complex syndactyly resulted in worse metacarpophalangeal joint motion but no significant difference in Disabilities of the Arm, Shoulder, and Hand; 36-Item Short-Form Health Survey; 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.

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.