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

Area of Science:

• Pediatric Endocrinology
• Genetics
• Quality of Life Research

Background:

• Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth disorder with significant phenotypic variability.
• This variability impacts patient experiences and quality of life (QoL).
• Patient-reported outcomes (PROs) are crucial for understanding the BWS patient journey.

Purpose of the Study:

• To investigate patient-reported outcomes in children and adolescents with Beckwith-Wiedemann Syndrome.
• To assess the impact of macroglossia severity and surgical intervention on QoL.

Main Methods:

• Prospective administration of FACE-Q Craniofacial measures to 36 BWS patients (aged 4-18).
• Surveys assessed appearance distress, psychosocial, school, and social function, converted to Rasch scores (0-100).
• Clinical data including BWS Index of Macroglossia (BIG) score and tongue reduction surgery history were reviewed.

Main Results:

• Overall high QoL scores were reported across all domains: appearance distress (91.9), psychological (86.3), school (80.7), and social (82.9).
• No significant differences in QoL were found based on tongue reduction surgery, BIG score, or blood mosaicism.
• Nearly half of patients (44.4%) underwent tongue reduction surgery at an average age of 2.3 years.

Conclusions:

• Patients with BWS generally report encouraging quality of life.
• Surgical correction of severe macroglossia in BWS can lead to significant improvements in QoL.
• QoL outcomes in surgically treated severe macroglossia cases are comparable to those with milder phenotypes not requiring surgery.