Koball, Afton

ABSTRACT Bardet‐Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various manifestations of endocrine and other clinical comorbidities among pediatric and adult patients with BBS. This retrospective chart review included pediatric and adult patients with BBS evaluated at an academic tertiary care center in the United States between 2000 and 2024. The study included 31 patients (7 children and 24 adults) with seven identified pathogenic variants associated with BBS. The most common genetic etiology was biallelic variants in BBS1 (36%). Obesity was diagnosed in 86% of children and 100% of adults. No children had diabetes or prediabetes, whereas 46% of adults were affected. Dyslipidemia was identified in 29% of children and 46% of adults. No thyroid abnormalities were identified in children, whereas 25% of adults were affected. Retinal dystrophy was present in 71% of children and 96% of adults. Polydactyly was observed in 100% of children and 75% of adults. Chronic kidney disease was present in 29% of children and 63% of adults. This study highlights the clinical heterogeneity and substantial multisystem burden of BBS across pediatric and adult patients. The greater prevalence of diabetes/prediabetes, dyslipidemia, thyroid abnormalities, chronic kidney disease, and visual impairment among adults suggests that these complications may emerge or progress over time. Early recognition, proactive longitudinal surveillance, and comprehensive multidisciplinary care are essential to optimize management across the lifespan.

ABSTRACT Background Experiencing weight stigmatization is linked to maladaptive eating, poorer mental health, and increased risk of weight gain, potentially impacting metabolic bariatric surgery (MBS) outcomes. This meta‐analysis aimed to synthesize patient experiences of weight stigmatization before and after MBS and to examine the association of presurgical weight stigma on postsurgical weight loss. Methods This preregistered study followed PRISMA guidelines. Six databases were searched through March 2025; eligible studies included published articles and dissertations/theses available in English that quantitatively measured presurgical weight stigma among MBS samples and included relevant outcomes. Meta‐analyses utilized random effects models with change scores converted to Hedge's g and associations between presurgical experienced weight stigma and post‐MBS weight change converted to coefficient r . Results Forty‐one studies were included, with 36 reporting on experienced weight stigma change pre‐ to post‐MBS and 10 studies reporting on the relationship between pre‐MBS experienced weight stigma and post‐MBS weight loss. Conclusions Results revealed weight stigmatization decreased substantially after MBS (6–12 months, g = 1.28; 13–24 months, g = 1.16; 25–36 months, g = 1.26). Presurgical weight stigma was not associated with weight loss post‐surgery ( r = 0.05). Findings are limited by minimal studies reporting on longer term relationships between baseline stigma, post‐MBS weight loss, and additional health outcomes.