Substantial Burden Associated With Hyperphagia and Obesity in Children With Bardet-Biedl Syndrome

Background: Bardet-Biedl syndrome (BBS) is a rare genetic disease characterized by early-onset, severe obesity and hyperphagia associated with primary cilia dysfunction. Although patients with BBS experience significant overall disease burden, the specific relationship between hyperphagia and body weight in patients with BBS is not fully understood. We assessed the correlation between hyperphagia score and obesity in children with BBS aged 4 to 17 years. Methods: Data were collected from CRIBBS (2014-2021), an international registry of patients with BBS. Anthropometrics were measured yearly. Hyperphagia was derived from the Hyperphagia Questionnaire completed by the caregiver at a single time point during the 4th annual CRIBBS follow-up interview. This questionnaire's scores range from 11 to 55, with higher values indicating more significant hyperphagia. Mean and median hyperphagia scores were assessed by weight category (i.e., obese, body mass index [BMI] >95th percentile; overweight, BMI ≥85th and