Sleep and physical activity patterns in adults and children with Bardet–Biedl syndrome

Pomeroy, Jeremy; VanWormer, Jeffrey J.; Meilahn, Jill; Maki, Tara; Murali, Hema R.; Haws, Robert

doi:10.1186/s13023-021-01911-4

Cited by 6 publications

(8 citation statements)

References 28 publications

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“…Forsythe et al did not observe a similar finding (personal communications). Interestingly, similar sex differences were not observed in previous CRIBBS‐based studies examining childhood obesity 31 and sleep and physical activity patterns 67 . Our study has some limitations.…”

Section: Discussionsupporting

confidence: 68%

“…Interestingly, similar sex differences were not observed in previous CRIBBS-based studies examining childhood obesity 31 and sleep and physical activity patterns. 67 Our study has some limitations. Potential risk factors for CKD progression including untreated or suboptimal treatment of hypertension, albuminuria, and metabolic syndrome cannot be comprehensively evaluated based on registry data.…”

Section: Discussionmentioning

confidence: 89%

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Kidney failure in Bardet–Biedl syndrome

Meyer

Krentz²,

Berg

et al. 2022

Clinical Genetics

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The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS), focusing on high‐risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with KF out of 607 subjects. Molecularly confirmed BBS was identified in 37 KF subjects and 364 CRIBBS registrants. KF was concomitant with recessive causal variants in 12 genes, with BBS10 the most predominant causal gene (26.6%), while disease penetrance was highest in SDCCAG8 (100%). Two truncating variants were present in 67.6% of KF cases. KF incidence was increased in genes not belonging to the BBSome or chaperonin‐like genes (p < 0.001), including TTC21B, a new candidate BBS gene. Median age of KF was 12.5 years, with the vast majority of KF occurring by 30 years (86.3%). Females were disproportionately affected (77.3%). Diverse uropathies were identified, but were not more common in the KF group (p = 0.672). Kidney failure was evident in 11 of 15 (73.3%) deaths outside infancy. We conclude that KF poses a significant risk for premature morbidity in BBS. Risk factors for KF include female sex, truncating variants, and genes other than BBSome/chaperonin‐like genes highlighting the value of comprehensive genetic investigation.

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Section: Discussionsupporting

confidence: 68%

Section: Discussionmentioning

confidence: 89%

Kidney failure in Bardet–Biedl syndrome

Meyer

Krentz²,

Berg

et al. 2022

Clinical Genetics

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“…Pomeroy et al observed that strategies to increase sleep duration could be useful to mitigate obesity. 138 In 2009, Seo et al demonstrated that intravenous melanocortin receptor agonist administration reduced body weight and food intake in Bbs knockout mice; 29 interestingly, in November 2020 and July 2021, in USA and EU, respectively, a new drug named setmelanotide has been approved for the treatment of obesity due to mutations in POMC, PCSK1 and LEPR. Setmelanotide is a melanocortin-4 receptor (MC4R) agonist and according to a phase-two study, it mitigates hyperphagia in BBS, reducing weight and hunger.…”

Section: Future Perspectivesmentioning

confidence: 99%

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Melluso¹,

Secondulfo²,

Capolongo³

et al. 2023

TCRM

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The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.

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“…In a recent study assessing free-living sleep and activity patterns in adults and children with BBS, 77 adults and 71 children (age range 6–18 years) were asked to wear a high-resolution triaxial accelerometer on their wrist for 12 days [21 ▪ ]. Insufficient sleep, defined as a failure to meet sleep recommendations for age, was common with 90% of adults and 92% of children failing to meet sleep recommendations for age.…”

Section: Diabetes Risk Factors In Bardet Biedl Syndromementioning

confidence: 99%

Diabetes mellitus in Bardet Biedl syndrome

Pomeroy

Offenwanger²,

Timmler

2022

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of reviewBardet Biedl syndrome (BBS) is a rare disease characterized by obesity and hyperphagia. Despite the very high prevalence of paediatric and adult obesity in this population, the prevalence of diabetes mellitus is not well described.Recent findingsStudies in small and moderately large cohorts suggest a high prevalence of traditional risk factors for diabetes mellitus in people with BBS. People with BBS appear to have a high prevalence of insulin resistance and metabolic syndrome. Small cohort studies have identified high rates of sleep disordered breathing, including sleep apnoea syndrome. Recent research has characterized traditional behavioural risk factors such as sleep hygiene and physical inactivity in people with BBS. High rates of insufficient sleep and prolonged sedentary time suggest behavioural targets of interventions to treat or prevent diabetes mellitus. Hyperphagia, likely caused by defects in the hypothalamic melanocortin-4 receptor (MC4R) neuronal pathway, pose additional challenges to behavioural interventions to prevent diabetes mellitus.SummaryUnderstanding the prevalence of diabetes mellitus and other metabolic disorders in people with BBS and the impact of traditional risk factors on glucose regulation are important to developing effective treatments in this population.

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Sleep and physical activity patterns in adults and children with Bardet–Biedl syndrome

Cited by 6 publications

References 28 publications

Kidney failure in Bardet–Biedl syndrome

Kidney failure in Bardet–Biedl syndrome

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Diabetes mellitus in Bardet Biedl syndrome

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