Patient-Reported Psychosocial Outcomes in Patients with Beckwith-Wiedemann Syndrome

Background: Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth disorder with variable clinical manifestations. Given the phenotypic variability of BWS, patient experiences and quality of life (QoL) can differ significantly. Here, we explore the role of patient-reported outcomes in BWS. Methods: Patients with BWS (aged 4-18 years) were prospectively administered FACE-Q Craniofacial measures (appearance distress, psychosocial, school, and social). Surveys were converted to a Rasch transformed score (0-100, 100 being best outcome). Patient demographics, clinical characteristics, and BWS Index of Macroglossia score (BIG) were reviewed. Results: Thirty-six patients completed all surveys (n=18, 50.0% males). Mean age at FACE-Q administration was 8.8±3.5 years. Most patients had a genetic diagnosis of IC2-LOM (n=24, 66.6%). At baseline, 12 patients were classified as BIG 0 (33.3%), 6 patients as BIG 1 (16.7%), 12 patients as BIG 2 (33.3%), and 6 patients as BIG 3 (16.7%). Almost half (n=16, 44.4%) underwent tongue reduction surgery at average age 2.3±2.0 years. Average FACE-Q scores were 91.9±10.9 for appearance distress, 86.3±16.4 for psychological function, 80.7±17.7 for school function, and 82.9±15.5 for social function. There were no differences in any of the measures between patients who underwent tongue reduction surgery, by BIG score, and by blood mosaicism (p>0.05). Conclusions: Patients with BWS have encouraging QoL scores. Among those with the most severe macroglossia phenotypes, surgical correction can significantly reduce the severity of macroglossia and ensure comparable improvements in QoL to those with milder phenotypes who did not undergo surgical management.