Objective: Bainbridge-Ropers syndrome (BRPS) is a neurodevelopmental genetic disorder associated with mutations in the additional sex combs-like ASXL3 gene on chromosome 18q12.1. The objective of this study is to describe the comorbid psychiatric aspects of BRPS.
Methods: A retrospective review was conducted of the electronic medical records of patients diagnosed with BRPS from 2013 to 2020 at an academic medical center. Results were deidentified and presented as frequencies and percentages.
Results: Seven cases (5 White males and 2 White females) of BRPS were identified. The mean age at the time of referral was 12 years, while the mean age at diagnosis of BRPS was 7 years. Comorbid psychiatric symptoms and diagnoses associated with BRPS included global developmental delay: 6 (86%), sleep impairment: 5 (71%), autism spectrum disorder: 3 (43%), speech impairment: 2 (29%), disruptive behavior: 4 (57%), attention-deficit/hyperactivity disorder: 3 (43%), self-injurious behavior: 3 (43%), aggression: 4 (57%), and seizures: 3 (43%). All 7 patients (100%) had multiple DSM-5 diagnoses.
Conclusions: These data highlight the need for awareness of the psychiatric comorbidity of BRPS. The findings also underscore the need for further research and emphasize the importance of multidisciplinary collaboration in the prompt assessment, diagnosis, and management of patients presenting with BRPS.
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