Adults with BBS report poorer physical, general, and social well-being
Study: Significant problems in everyday mental skills linked to depression
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A medical professional takes notes on a clipboard while talking with a patient.
Adults with Bardet-Biedl syndrome (BBS) generally report poorer physical, general, and social well-being than the general population, according to a study from Norway.
Still, most patients show no clinically significant problems in everyday executive functioning — the mental skills used to plan, organize, prioritize, and regulate behavior — despite frequent learning difficulties. Instead, clinically meaningful executive function difficulties were seen only among participants who had experienced depression during the previous year.
Adults with BBS also reported consciously trying to limit how much they ate more often than eating in response to emotions, although the researchers cautioned that the questionnaire used in the study was not designed to measure the persistent hunger that characterizes BBS.
These findings emphasize “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,” researchers wrote.
The study, “Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome,” was published in the American Journal of Medical Genetics.
Data lacking on how adults with BBS function in everyday life
BBS is a rare inherited disorder that causes a wide range of symptoms that vary from person to person. People with BBS commonly develop obesity driven by hyperphagia (insatiable hunger) and progressive vision loss. Many may also experience learning difficulties.
Previous studies have shown that children with BBS generally report poorer quality of life than their peers, with hyperphagia identified as one contributing factor. However, little is known about how adults with BBS function in everyday life, particularly when it comes to executive functioning or how they perceive their eating behaviors.
“For instance, how they evaluate their emotional eating, cognitive restraint, or uncontrolled eating, remains poorly understood,” the researchers wrote.
To address these questions, a team of researchers in Norway conducted an observational study (NCT05400278). A total of 30 adults with BBS, ages 20 to 69, were recruited through the Centre for Rare Disorders at Oslo University Hospital and an advertisement on the Norwegian BBS organization’s webpage.
Participants completed validated questionnaires assessing health-related quality of life, everyday executive functioning, and eating behavior. To ensure accessibility for adults with impaired vision and learning difficulties, all questionnaires were administered by trained staff and home visits were offered for those unable to travel. Twenty relatives also completed questionnaires about patients’ executive functioning.
Participants’ mean age was 39.8 years, and half were women. All had retinitis pigmentosa, the progressive eye disease that causes vision loss in BBS, and most (76%) had obesity. Learning difficulties were reported by 70% of participants, while six adults (20%) said they had experienced depression during the previous year. Eight lived in care homes.
Better executive functioning associated with better quality of life
Compared with the general Norwegian population, adults with BBS scored lower on measures of physical functioning, general health, and social functioning in the 36-item Short Form Health Survey, which measures health-related quality of life across eight domains.
“This is unsurprising given the high prevalence of retinitis pigmentosa and obesity in BBS as documented in the present study, both of which can limit participation in physical activity and negatively affect overall quality of life,” the researchers wrote. “The finding of reduced social function in BBS emphasizes the importance of addressing this issue as part of a clinical follow-up.”
Most participants did not meet the threshold for clinically meaningful executive functioning problems on the Behavior Rating Inventory of Executive Function-Adult version (BRIEF-A) questionnaire. Only a small proportion (7% to 13%, depending on the BRIEF-A measure examined) showed clinically significant difficulties, and all had experienced depression during the previous year.
This suggested that these difficulties may be more prominent among adults with BBS who also have depression. By contrast, executive functioning did not differ according to self-reported learning difficulties.
These findings emphasize the need for multidisciplinary follow-up that includes medical, social, and psychological care, while paying particular attention to eating behavior, which can be difficult to assess.
Further statistical analyses showed that better executive functioning was associated with better quality of life, particularly mental well-being.
On the Three-Factor Eating Questionnaire-Revised, which evaluates cognitive restraint, uncontrolled eating, and emotional eating, 10% to 50% of participants reported eating-related difficulties, depending on the domain assessed. Overall, participants scored highest for cognitive restraint, indicating they consciously tried to limit how much they ate, and lowest for emotional eating.
However, because no validated tool to assess hyperphagia in adults with BBS was available at the time of the study, the researchers cautioned that these findings may not fully reflect the eating-related challenges experienced by this patient population.
“These findings emphasize the need for multidisciplinary follow-up that includes medical, social, and psychological care, while paying particular attention to eating behavior, which can be difficult to assess,” the researchers wrote. “Further research using both self- and informant-based measures is warranted to clarify how everyday functioning and eating behavior relate to quality of life in adults with BBS.”
