Sun YY, Xia Y, Zhi QN, Liu XY. Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature. World J Psychiatry 2025; 15(2): 101948 [DOI: 10.5498/wjp.v15.i2.101948]
Corresponding Author of This Article
Xiao-Yan Liu, Department of Psychiatry, Affiliated Mental Health Center & Hangzhou Seventh People's Hospital, Zhejiang University School of Medicine, No. 305 Tianmushan Road, Hangzhou 310000, Zhejiang Province, China. liuxiaoyan1990@126.com
Research Domain of This Article
Behavioral Sciences
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Psychiatry. Feb 19, 2025; 15(2): 101948 Published online Feb 19, 2025. doi: 10.5498/wjp.v15.i2.101948
Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature
Yu-Yong Sun, Yong Xia, Qian-Na Zhi, Xiao-Yan Liu
Yu-Yong Sun, Yong Xia, Qian-Na Zhi, Xiao-Yan Liu, Department of Psychiatry, Affiliated Mental Health Center & Hangzhou Seventh People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Co-first authors: Yu-Yong Sun and Yong Xia.
Author contributions: Sun YY and Xia Y contribute equally to this study as co-first authors; Sun YY, Liu XY and Xia Y wrote the main manuscript text; Zhi QN prepared Table 1; all authors reviewed the manuscript; Sun YY and Xia Y contributed equally as co-first authors to the research paper.
Supported by the Zhejiang Province Medicine and Health Science and Technology Program, No. 2023KY980; and Hangzhou Municipal Health and Family Planning Commission, No. A20220133.
Informed consent statement: Written informed consent was obtained from the patient and his legally authorized representative for the publication of this case report in accordance with the journal’s patient consent policy. This study was approved by the Ethics Committee of the Hangzhou Seventh People's Hospital [019 (2022)].
Conflict-of-interest statement: The authors declare that there is no conflict of interest regarding the publication of this study.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Yan Liu, Department of Psychiatry, Affiliated Mental Health Center & Hangzhou Seventh People's Hospital, Zhejiang University School of Medicine, No. 305 Tianmushan Road, Hangzhou 310000, Zhejiang Province, China. liuxiaoyan1990@126.com
Received: October 2, 2024 Revised: November 23, 2024 Accepted: December 25, 2024 Published online: February 19, 2025 Processing time: 103 Days and 22.2 Hours
Abstract
BACKGROUND
Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by intellectual disability, delayed language development, autism spectrum disorders, motor tone abnormalities, and a high risk of psychiatric symptoms, including bipolar disorder.
CASE SUMMARY
This report presented an 18-year clinical history of a 36-year-old woman with PMS, marked by intellectual disabilities, social withdrawal, and stereotyped behaviors. Diagnosed with bipolar disorder at the age of 18 years old, she encountered significant treatment challenges, including severe adverse reactions to antipsychotic medications in 2022, which led to speech and functional regression. Through rehabilitation and comprehensive therapy, her condition gradually improved. In 2024, after further treatment, her symptoms stabilized, highlighting the complexities and successes of long-term management.
CONCLUSION
Effective management of PMS requires a thorough clinical history, genetic testing, and long-term supportive care.
Core Tip: Phelan-McDermid syndrome (PMS) is a complex genetic disorder characterized by intellectual disability, delayed language development, autism spectrum disorders, and psychiatric symptoms, such as bipolar disorder. Effective management of PMS requires a comprehensive medical history, genetic testing, and long-term supportive care. This case highlights the challenges in treating psychiatric symptoms associated with PMS, including adverse reactions to medications. It also emphasizes the importance of comprehensive rehabilitation and therapy in stabilizing symptoms and improving the patient’s quality of life.
