Objective:

To assess hyperphagia severity in adults with Bardet-Biedl syndrome (BBS) using a structured questionnaire and semi-structured interviews.

Approach:

• Study Design: Cross-sectional, non-interventional study involving 51 adults with BBS.
• Participants: 51 adults with BBS (49% males; 56.9% aged 18–34 years; mean BMI 36.5 kg/m2).
• Data Collection: Participants completed a 14-item hyperphagia questionnaire and a subset participated in semi-structured interviews.
• Analysis: Interview transcripts were coded and severity ratings assigned in collaboration with a BBS clinical expert.

Key Findings:

• Questionnaire data classified hyperphagia as severe in 5.9% (3/51), moderate in 45.1% (23/51), and mild in 49.0% (25/51) of participants.
• Semi-structured interviews classified hyperphagia as severe in 66.7% (10/15), moderate in 26.7% (4/15), and mild in 6.7% (1/15) of participants.
• 86.7% (13/15) of participants had a higher severity rating from interviews compared to questionnaires.

Interpretation:

The study reveals significant underreporting of hyperphagia severity when relying solely on self-reported questionnaires.

Limitations:

• Small sample size may limit generalizability.
• Potential biases in self-reporting and interview responses may affect the results.

Conclusion:

Incorporating semi-structured interviews may provide a more comprehensive assessment of hyperphagia in adults with BBS.