Screening, diagnostic, and monitoring approaches of Bardet-Biedl Syndrome: A scoping review

Introduction

Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive, multisystemic ciliopathy. Providing care for BBS presents challenges due to limited data. This scoping review aimed to characterize evidence for screening, diagnosing, and monitoring BBS.

Methods

We searched ten databases for articles published in English and Spanish between January 2017 and October 2023. We selected human-based research that utilized methods to assess BBS, including experimental, quasi-experimental, observational studies, reviews, and guidelines. Screening and data extraction were performed by two independent reviewers, with a third reviewer involved to resolve disagreements. We employed descriptive statistical analyses and qualitative synthesis.

Results

We included 113 articles from 32 countries, mainly constituting case reports (n = 45, 39.8 %). Prenatal ultrasound was the most frequently reported screening method (n = 15, 13.3 %) for detecting early BBS indicators. Clinical manifestations were crucial in raising suspicion of BBS, with nearly all references adopting the diagnostic criteria by Forsythe and Beales. Central obesity, retinal rod-cone dystrophy, and postaxial polydactyly were the most frequently documented manifestations. Genetic testing was also essential to diagnosing BBS, with techniques such as next-generation sequencing confirming up to 80 % of cases. Articles reported variants in a total of 41 genes, including those encoding BBSome proteins, chaperones, and components of the IFT. Furthermore, we identified the most frequently assessed clinical features during patient follow-up. Notably, we observed that few articles reported complementary exams to evaluate BBS's clinical manifestations.

Conclusions

Our results provide valuable insights for healthcare professionals, facilitating evidence-based, ongoing care for patients with BBS.