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

This study looked at the daily life experiences of 30 adults with Bardet-Biedl Syndrome (BBS), focusing on their quality of life, thinking skills, and eating habits. The researchers used questionnaires to compare how people with BBS were doing compared to the general population. The study found that adults with BBS had more difficulty with physical activities, felt their general health was poorer, and had more challenges with social activities compared to people without BBS. About 17% had significant physical limitations that affected their daily life. Interestingly, most participants had normal thinking and problem-solving abilities, but a small group (7-13%) who also had recent depression showed more difficulties with executive functioning - which includes skills like planning, organizing, and managing daily tasks. The researchers also found that people with BBS showed higher "cognitive restraint" around eating, meaning they think more carefully about controlling what they eat. This research matters because it's one of the first studies to look at these everyday life challenges in adults with BBS. The findings suggest that people with BBS would benefit from a team approach to their care that includes not just medical treatment, but also support for mental health (especially depression), help with daily life skills, and guidance around eating behaviors. This could help improve their overall quality of life beyond just treating the physical symptoms of BBS.

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.