MON-718 Clinical, Cardiometabolic, and Endocrine Characteristics of Bardet-Biedl Syndrome (BBS) in a Pediatric and Adult Cohort
Notice bibliographique
Résumé
Abstract Disclosure: D. Hassan: None. M. Salama: None. K. Muthusamy: None. A.M. Haqq: None. S. Kumar: None. Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic condition characterized by obesity and considerable clinical and genetic heterogeneity. While cardiometabolic and endocrine comorbidities are commonly associated with BBS, data on their prevalence, particularly in children, remain limited. Objective: To assess the prevalence of cardiometabolic and endocrine comorbidities among pediatric and adult patients with BBS. Methods: This is a retrospective chart review of pediatric and adult patients with BBS evaluated in the outpatient setting at Mayo clinic. The cohort included individuals aged 0-50 years with either a clinical or genetic diagnosis of BBS, identified from January 1, 2000, onward. Demographic, anthropometric, phenotypic, and biochemical data were reviewed. Results: The study comprised 34 patients, including 9 children (median age 8 years (IQR: 3.5-11)) and 25 adults (median age 33.5 years (IQR: 27-42)). Females constituted 56% of the cohort and White individuals accounted for 76%. The median age at diagnosis of BBS was 9 years (IQR: 3-16). Phenotypic characteristics included retinal dystrophy in 33% of children and 92% of adults, polydactyly in 78% of children and 52% of adults, and learning disabilities in 56% of children and 52% of adults. Obesity was prevalent in 56% of children and 80% of adults. Among children, their median maximum BMI % of the 95th percentile was 149% (IQR: 136-163%). Adults had a a median maximum BMI of 50 kg/m² (IQR: 43-55). There was insufficient data to determine the onset of hyperphagia; however, the median age of obesity onset for the cohort was 7 years (IQR: 4-11). No cases of diabetes or prediabetes were identified among children, whereas 40% of adults were diagnosed with type 2 diabetes. Cardiometabolic characteristics included hypertension in 11% of children and 48% of adults, kidney dysfunction in 33% of children and 56% of adults. Dyslipidemia was noted in 22% of children and 44% of adults, with median triglyceride levels 133 mg/dL (IQR: 93-153) in children and 142 mg/dL (IQR: 120-200) in adults. No cases of cardiovascular disease were identified in children, whereas 8% of adults were diagnosed with the condition. Endocrine characteristics included hypothyroidism in 11% of children and in 24% of adults. Of the 34 patients, genotype data were available for 28 individuals (82%). The most prevalent genotype was BBS1, comprising 27% of the cases. This was followed by BBS2 and BBS10, which each accounted for 15% of the cohort. Genotypes BBS4, BBS6 (MKKS2), IFT172, and SCLT1 were each observed in 3% of the cohort. Conclusion: This study highlights the significant clinical, cardiometabolic, and endocrine burden associated with BBS across children and adults. These findings underscore the importance of early and comprehensive multidisciplinary management of BBS. Keywords: Bardet-Biedl syndrome, obesity, cardiometabolic, endocrine comorbidities. Presentation: Monday, July 14, 2025
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».