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May 21, 2026

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

CRCecilie F. RustadUniversity of Oslo CLCharlotte von der LippeTelemark Hospital HNHilde NordgardenLovisenberg Diakonale Høgskole

Key Points

Assess health-related quality of life, everyday executive functioning, and eating behavior in adults with Bardet–Biedl syndrome.
Cross-sectional study of 30 adults with Bardet–Biedl syndrome
Used SF-36 for HRQoL, BRIEF-A for executive functioning, and TFEQ-R21 for eating behavior
Evaluated associations among these domains and clinical impairment rates
Adults with BBS reported significantly lower scores on Physical Functioning, General Health, and Social Function subscales of the SF-36 compared to the general population
17% of participants were in the clinically impaired range on the Physical Component Summary
7%-13% of participants had clinically impaired executive functioning, particularly those with recent depression.

Abstract

ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and examine associations among these domains. Thirty adults with BBS (50% male, aged 20–69 years) participated in a cross‐sectional study. HRQoL was measured using the Short Form Health Survey (SF‐36), everyday executive functioning with the Behavior Rating Inventory of Executive Function—Adult Version (BRIEF‐A), and eating behavior with the Three‐Factor Eating Questionnaire (TFEQ‐R21). Compared with the general population, adults with BBS scored significantly lower on the Physical Functioning, General Health, and Social Function subscales of the SF‐36, and 17% of participants fell within the clinically impaired range on the Physical Component Summary. While median BRIEF‐A T ‐scores on subscales were within normative ranges, 7%–13% of participants exhibited BRIEF‐A indices scores in the clinically impaired ranges, all of whom had recent depression and reported significant poorer executive difficulties. On the TFEQ‐R21, the average cognitive restraint scale showed the highest score. Adults with BBS reported reduced HRQoL in the domains of physical functioning, general health, and social function compared to the general population. Additionally, a small subgroup with recent depression appeared to account for the observed everyday executive difficulties, suggesting that these may be concentrated in those with comorbid depression. This emphasizes the need for multidisciplinary follow‐up of individuals with BBS, including focus on everyday executive functioning and eating behavior in addition to medical and psychosocial care. Trial Registration: ClinicalTrials.gov : NCT05400278

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