Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.
Martilias S FarrellMaya LichtensteinMatthew K HarnerJames J CrowleyDawn M FilmyerGabriel Lázaro-MuñozTyler E DietterichLisa M BrunoRita A ShaughnessyTamara F BiondiStephan BurkholderJane DonmoyerJonathan S BergJin SzatkiewiczPatrick F SullivanRichard C JosiassenPublished in: Translational psychiatry (2020)
The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.
Keyphrases
- intellectual disability
- autism spectrum disorder
- attention deficit hyperactivity disorder
- case report
- copy number
- genome wide
- mitochondrial dna
- bipolar disorder
- emergency department
- healthcare
- dna methylation
- mental health
- depressive symptoms
- social media
- risk assessment
- climate change
- combination therapy
- health information