Patient-reported Outcomes in Arthrogryposis

Background: Little is known about patient-reported health status in children and adolescents with arthrogryposis. Utilizing the Patient-Reported Outcome Measurement Information System (PROMIS) and Pediatric Outcomes Data Collection Instrument (PODCI) questionnaires, we investigated functional and psychosocial measures in arthrogryposis. Methods: A total of 118 patients with arthrogryposis were identified from a prospective longitudinal cohort (the Congenital Upper Limb Difference Registry) from 2014 to 2018. Demographics and patient-reported outcome measures were evaluated, including the PROMIS [upper extremity (UE) function, pain, depression, anxiety, and peer relations] and PODCI questionnaires (UE function, pain, happiness, and global function). Results: A total of 29 arthrogrypotic patients had complete PROMIS and PODCI data. This cohort was divided into distal arthrogryposis and amyoplasia groups, with 15 and 14 patients in each group, respectively. There were 8 males in the distal arthrogryposis group with a median age of 9 years and 7 males in the amyoplasia group with a median age of 8 years. For both cohorts, the median UE function PROMIS scores were significantly below population norms, 31 for distal arthrogryposis and 22 for amyoplasia. PODCI UE function was statistically lower for amyoplasia compared with the distal arthrogryposis cohort. PROMIS pain, depression, anxiety, and peer relations were in the normal range for both amyopasia and distal arthrogryposis. Median PODCI pain and happiness ranged from 85 to 88 for all patients with no statistical difference between groups. Conclusions: Arthrogryposis patients have lower UE function scores compared with population normals, but they have emotional states that are consistent with populations norms. Amyoplasia patients were functionally worse than distal arthrogryposis patients.