Journal article
Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
Translational psychiatry, v 10(1), pp 42-42
28 Jan 2020
PMID: 32066678
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
Metrics
Details
- Title
- Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
- Creators
- Martilias Farrell - University of North Carolina at Chapel HillMaya Lichtenstein - Geisinger Health SystemMatthew K. Harner - Translat Neurosci, Conshohocken, PA 19428 USAJames J. Crowley - University of North Carolina at Chapel HillDawn M. Filmyer - Translat Neurosci, Conshohocken, PA 19428 USAGabriel Lazaro-Munoz - College Station Medical CenterTyler E. Dietterich - Translat Neurosci, Conshohocken, PA 19428 USALisa M. Bruno - Translat Neurosci, Conshohocken, PA 19428 USARita A. Shaughnessy - Translat Neurosci, Conshohocken, PA 19428 USATamara F. Biondi - University of North Carolina at Chapel HillStephan Burkholder - Wernersville State Hosp, Wernersville, PA USAJane Donmoyer - Wernersville State Hosp, Wernersville, PA USAJonathan S. Berg - University of North Carolina at Chapel HillJin Szatkiewicz - University of North Carolina at Chapel HillPatrick F. Sullivan - University of North Carolina at Chapel HillRichard C. Josiassen - Translat Neurosci, Conshohocken, PA 19428 USA
- Publication Details
- Translational psychiatry, v 10(1), pp 42-42
- Publisher
- Springer Nature
- Number of pages
- 8
- Grant note
- K01 MH108894 / NIMH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Mental Health (NIMH)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Psychiatry
- Web of Science ID
- WOS:000515819300002
- Scopus ID
- 2-s2.0-85079665915
- Other Identifier
- 991021890004504721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Psychiatry