Evidence map›Paper›PMID 42466340›Full record

ArticleFrontiers in endocrinology2026

Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome - a mixed-method cross-sectional study in the United Kingdom.

Jean Mossman, Sarah Flack, Elise Gamertsfelder, Nicolas Touchot, Eric Low, Philip L Beales

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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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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Jean MossmanDepartment of Health Policy, Medical Technology Research Group, London School of Economics, London, United Kingdom.
Sarah FlackGreat Ormond Street Hospital for Children, London, United Kingdom.
Elise GamertsfelderEric Low Consulting Ltd, East Lothian, United Kingdom.
Nicolas TouchotRhythm Pharmaceuticals, Inc., Boston, MA, United States.
Eric LowEric Low Consulting Ltd, East Lothian, United Kingdom.
Philip L BealesGenetics and Genomic Medicine Programme, University College London, Great Ormond Street Institute of Child Health, London, United Kingdom.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Bardet-Biedl SyndromeHyperphagiaAdolescentAdultCross-Sectional StudiesFemaleHumansMaleMiddle AgedSeverity of Illness IndexSurveys and QuestionnairesUnited KingdomYoung Adultappetite regulationBardet-Biedl syndromehyperphagiamelanocortin-4 receptor (MC4R) pathwayseverity scales

Identifiers

PMID42466340
PMCPMC13373750

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.