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首页> 外文期刊>American journal of medical genetics, Part A >Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
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Phelan-McDermid syndrome: clinical report of a 70-year-old woman.

机译：Phelan-McDermid综合征：一名70岁妇女的临床报告。

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Phelan-McDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data about adult patients are virtually absent. The expression of its phenotypical characteristics appears to be linearly related to the deletion size. Here, an intellectually disabled geriatric female patient is described with a long history of challenging behaviors in whom Phelan-McDermid syndrome was demonstrated. Detailed analysis of the patient's history and functioning resulted in a psychiatric diagnosis of atypical bipolar disorder and her behavior significantly improved upon maintenance treatment with a mood stabilizing agent. The present article confirms recent findings that atypical bipolar disorder may be part of the psychopathological phenotype of Phelan-McDermid syndrome, reason why careful etiological search is warranted, also in the geriatric population.
机译：Phelan-McDermid或22q13.3缺失综合征的特征是全球智力残疾，儿童肌张力减退，严重延迟或无言语，自闭症谱系障碍的特征，没有任何严重的畸形或躯体异常。通常会在青春期之前进行诊断，并且几乎没有成人患者的数据。其表型特征的表达似乎与缺失大小线性相关。在这里，描述了具有悠久的具有挑战性行为历史的智障老年女性患者，其中证明了Phelan-McDermid综合征。对患者病史和功能的详细分析导致了对非典型双相情感障碍的精神病学诊断，并且在使用情绪稳定剂进行维持治疗后，她的行为得到了显着改善。本文证实了最近的发现，即非典型双相情感障碍可能是Phelan-McDermid综合征的心理病理表型的一部分，这也是在老年病人群中进行认真病因搜索的原因。

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