{"title":"Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.","authors":"Yu-Yong Sun, Yong Xia, Qian-Na Zhi, Xiao-Yan Liu","doi":"10.5498/wjp.v15.i2.101948","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case summary: </strong>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.</p><p><strong>Conclusion: </strong>Effective management of PMS requires a thorough clinical history, genetic testing, and long-term supportive care.</p>","PeriodicalId":23896,"journal":{"name":"World Journal of Psychiatry","volume":"15 2","pages":"101948"},"PeriodicalIF":3.9000,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758057/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Psychiatry","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5498/wjp.v15.i2.101948","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PSYCHIATRY","Score":null,"Total":0}
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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.
期刊介绍：
The World Journal of Psychiatry (WJP) is a high-quality, peer reviewed, open-access journal. The primary task of WJP is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of psychiatry. In order to promote productive academic communication, the peer review process for the WJP is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJP are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in psychiatry.
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