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Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.
Transl Psychiatry. 2020 Jan 28;10(1):42
Authors: Farrell M, Lichtenstein M, Harner MK, Crowley JJ, Filmyer DM, Lázaro-Muñoz G, Dietterich TE, Bruno LM, Shaughnessy RA, Biondi TF, Burkholder S, Donmoyer J, Berg JS, Szatkiewicz J, Sullivan PF, Josiassen RC
Abstract
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.
PMID: 32066678 [PubMed – in process]
via https://www.ncbi.nlm.nih.gov/pubmed/32066678?dopt=Abstract