Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder. It involves intellectual disability, delayed language, autism spectrum disorders, motor tone abnormalities, and a high risk of psychiatric symptoms like bipolar disorder. Case presentation We present an 18-year case of a 36-year-old woman with PMS, exhibiting intellectual disabilities, social withdrawal, and stereotyped behavior. Diagnosed with bipolar disorder at 18, she faced treatment challenges, including severe reactions to antipsychotics in 2022, leading to speech and functional regression. Subsequent rehabilitation and comprehensive therapy improved her condition. By 2024, following additional treatment, her symptoms stabilized. Conclusions PMS requires detailed history, genetic testing, and long-term supportive care for effective management.
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Sun et al. (2024) studied this question.
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