ArticleFrontiers in endocrinology2026
Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome - a mixed-method cross-sectional study in the United Kingdom.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by primary ciliary dysfunction leading to retinal degeneration, rod-cone dystrophy, polydactyly, hyperphagia, early-onset obesity, renal dysfunction, hypogonadism, and learning difficulties. Hyperphagia, a pathological insatiable hunger leading to excessive and unusual food intake and persistent, obsessive food-seeking behaviours, is a frequent symptom associated with BBS. This study assessed hyperphagia severity in adults with BBS living in the UK, using a standard structured questionnaire accompanied by an in-depth semi-structured interview. Methods: This non-interventional, cross-sectional study included 51 adults with BBS (49.0% males; 56.9% aged 18-34 years; mean [SD] body mass index [) BMI] of 36.5 [8.8] kg/m Results: Questionnaire data classified hyperphagia as severe in 5.9% (3/51) of participants, moderate in 45.1% (23/51), and mild in 49.0% (25/51), whereas semi-structured interviews classified hyperphagia as severe in 66.7% (10/15) participants, moderate in 26.7% (4/15), and mild in 6.7% (1/15). Notably, 86.7% (13/15) participants were assigned a higher severity level via interviews than questionnaires, while only two participants had the same classification across both methods. In a sub-analysis of participants with BMI ≥30 kg/m Conclusions: This study reveals a high prevalence of severe hyperphagia in adults with BBS based on semi-structured interviews and highlights substantial underreporting of hyperphagia severity when relying on self-reported questionnaires alone. The findings support incorporating semi-structured interviews as a mixed-method approach to provide a more comprehensive assessment of hyperphagia burden in adults with BBS.
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