Abstracts

Rationale: Neurological manifestations in Bardet-Biedl Syndrome (BBS) are common and include cognitive, sensory and motor impairments. Epilepsy in BBS is reported to be uncommon in the medical literature. The Clinical Registry Investigating BBS (CRIBBS) is the largest international BBS patient registry and provides opportunity to offer insight into seizures and epilepsy in BBS. Methods: We used data from CRIBBS to investigate the prevalence and characteristics of seizures and epilepsy in BBS. Health information from all individuals enrolled in CRIBBS from inception in June 2014 until June 2016 that met published diagnostic criteria for BBS was examined (n=249). Review of medical records and participant interviews were conducted in individuals that reported a history of seizures. Epilepsy was defined by 2014 International League against Epilepsy (ILAE) criteria. Results: 31 of 249 (12.4%) individuals in CRIBBS reported at least one seizure. Epilepsy based on ILAE criteria was present in 24 individuals of 249 CRIBBS participants (9.6%) Neuroimaging was performed in 87.1% of the 31 individuals with seizures; however structural mechanisms for seizures were not identified in any individual. A single infant was reported to have right parietal subdural hematoma and parietal contusion at birth leading to left sided clonic seizures. This was attributed to birth trauma. Conclusions: The prevalence of seizures and epilepsy is significantly higher in Bardet Biedl Syndrome than in the general population, and much higher than that previously recognized in patients with BBS. Although the mechanism(s) for seizures in BBS are not established, it is established that BBS is a disorder of primary cilia. The resolution of seizures before adulthood in the majority suggests that brain immaturity may contribute to the susceptibility to seizures in this population. Funding: No funding received.