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

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

  • By

  • Jean Mossman

  • Sarah Flack

  • Elise Gamertsfelder

  • Nicolas Touchot

  • Eric Low

  • Philip L. Beales

  • July 2, 2026

  • 0 min

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  • 1

    Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by symptoms including hyperphagia, obesity, and renal dysfunction.

  • 2

    The study involved 51 adults with BBS, using questionnaires and semi-structured interviews to assess hyperphagia severity.

  • 3

    Questionnaire results indicated severe hyperphagia in only 5.9% of participants, while interviews revealed 66.7% classified as severe.

  • 4

    A significant discrepancy was found, with 86.7% of interview participants rated higher for hyperphagia severity than questionnaire results.

  • 5

    The findings suggest that self-reported questionnaires may significantly underestimate hyperphagia severity in adults with BBS.

Original Source(s)

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

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

  • July 2, 2026

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