Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Abstract

The aim of the study was to investigate the behavioral phenotype of patients affected with Bardet-Biedl syndrome (BBS). Twenty-four patients with molecularly confirmed diagnosis of BBS (6-38 years old) were evaluated using standardized neuropsychological tests. Results were compared with normative data. The mean intellectual functioning of participants fell 1.5 standard deviations below normal expectations; though, the majority of participants (75-80%) did not display an intellectual disability. The group's mean performance on most cognitive tasks and all scales of adaptive functioning was significantly weaker than norms. The majority (55-60%) of participants displayed broadly average verbal fluency and auditory rote learning, while 22-40% were severely impaired in the same areas. The majority of participants were severely impaired in perceptual reasoning (53%), attentional capacity (69%), and functional independence (74%). Symptoms associated with Autism were reported for 77% of participants. Behavioral issues were unrelated to intellectual ability but significantly correlated with adaptive functioning. This first neurocognitive evaluation of a molecularly confirmed cohort of BBS patients shows that the majority of patients experience significant difficulties with perceptual intellectual abilities, auditory attentional capacity, adaptive independence, and behavior. The frequency of autism-related symptoms far exceeds the incidence rate of diagnosed autism in general and warrants further investigations.