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...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Rare |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008725000365 |
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| Summary: | 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. |
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| ISSN: | 2950-0087 |