Natural History of Poland Syndrome: A Long-term Study of Functional and Psychosocial Outcomes.

Abstract

Poland syndrome (PS) is a congenital condition characterized by pectoralis hypoplasia and an ipsilateral hand anomaly that frequently necessitates surgery in childhood. This study aimed to determine long-term functional and psychosocial implications of PS. Patients underwent strength testing of their affected limb by comparing with their contralateral arm. They completed Disabilities of the Arm, Shoulder, and Hand (DASH), 36-item Short-Form Health Survey (SF-36), and several Patient-Reported Outcome Measurement Information System (PROMIS) surveys. Aggregate scores were compared with population norms. Twenty-eight patients were enrolled, and 16 returned for strength testing. The average age was 42 years (range, 18-65 years), and the average follow-up was 25 years (range, 1-52 years). Dynamometer testing showed decreased strength in shoulder internal rotation and abduction/adduction, hand grip, and key pinch/tip pinch. Average DASH and SF-36 scores were comparable with population norms. The PROMIS Upper Extremity score (46.2) was significantly lower than the average 50 (SD, 10.0); the Social Roles score (57.3) indicated significantly less disability than the general population. Seventy-nine percent reported higher than average satisfaction with life, 82% had normal self-esteem, and 21% and 4% met screening criteria for depression and anxiety, respectively. The Derriford Appearance Scale revealed that 68% of patients identified PS as their most self-conscious feature, with 36% reporting subsequent life adjustments. This cohort of PS patients self-reported more favorable functional, psychological, and emotional outcomes than expected based on significant shoulder and hand strength deficits. Despite these deficits, patients make adaptations, allowing fulfilling lives with psychosocial functioning similar to their peers.