{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T12:44:58Z","timestamp":1782996298380,"version":"3.54.5"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by primary ciliary dysfunction leading to retinal degeneration, rod\u2013cone dystrophy, polydactyly, hyperphagia, early\u2010onset 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This non-interventional, cross-sectional study included 51 adults with BBS (49.0% males; 56.9% aged 18\u201334 years; mean [SD] body mass index [) BMI] of 36.5 [8.8] kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      [range 21.8\u201359.6]). Participants were excluded if they were currently prescribed or had previously taken setmelanotide. Most were of White ethnicity (82.4%), and age at diagnosis ranged from birth to 50 years. Participants completed a 14-item hyperphagia questionnaire comprising multiple-choice and open-ended questions; a subset (n=15) participated in semi-structured interviews. Interview transcripts were coded systematically by a qualitative researcher and reviewed with a BBS clinical expert to assign severity ratings. Semi-structured interviews were designed to address known limitations of self-reporting in this population, including the disability paradox, stigma, and cognitive difficulties.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      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 \u226530 kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      (n=39), semi-structured interviews classified hyperphagia as severe in 69.2% (9\/13) and moderate in 30.8% (4\/13); none were classified as mild hyperphagia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1858350","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T11:53:24Z","timestamp":1782993204000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome \u2013 a mixed-method cross-sectional study in the United Kingdom"],"prefix":"10.3389","volume":"17","author":[{"given":"Jean","family":"Mossman","sequence":"first","affiliation":[{"name":"Department of Health Policy, Medical Technology Research Group, London School of Economics","place":["London, United 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Genomic Medicine Programme, University College London, Great Ormond Street Institute of Child Health","place":["London, United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1111\/obr.13915","article-title":"Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management","volume":"26","author":"Beales","year":"2025","journal-title":"Obes Rev"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1111\/j.2047-6310.2013.00182.x","article-title":"Hyperphagia among patients with Bardet-Biedl syndrome","volume":"8","author":"Sherafat-Kazemzadeh","year":"2013","journal-title":"Pediatr Obes"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01634-7","article-title":"Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and 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