Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.
Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.
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DOI：
10.1016/j.schres.2016.12.023
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发表时间：
2017-10
影响因子：
4.5
通讯作者：
Gothelf D
中科院分区：
文献类型：
--
作者：
Mekori-Domachevsky E;Guri Y;Yi J;Weisman O;Calkins ME;Tang SX;Gross R;McDonald-McGinn DM;Emanuel BS;Zackai EH;Zalsman G;Weizman A;Gur RC;Gur RE;Gothelf D
大约三分之一的 22q11.2 缺失综合征 (22q11.2DS) 患者会患上精神分裂症。值得注意的是，全面的精神障碍通常会出现阈下症状。因此，识别该人群中精神病的早期迹象非常重要，这项任务因 22q11.2DS 中常见的智力障碍而变得复杂。我们的目的是确定将 22q11.2DS 与其他神经发育障碍区分开来的阈下精神病症状。该研究包括来自特拉维夫和费城的两个独立队列。两个中心均招募了 22q11.2DS（N=171）和典型发育障碍（TD；N=832）个体，并与两组智力障碍患者进行进一步比较：特拉维夫队列中的威廉姆斯综合征（WS；N=21）和费城队列中的特发性发育障碍（IDD；N=129）。参与者及其主要照顾者接受了前驱症状结构化访谈（SIPS），并使用标准化工具评估精神病理学；使用计算机神经认知电池评估一般认知能力。阴性/紊乱阈下综合征在 22q11.2DS 组中比 WS（OR=3.90，95% CI=1.34–11.34）或 IDD（OR=5.05，95% CI=3.01–10.08）组更常见。 22q11.2DS 组在几个 SIPS 阴性项目上的得分高于两个智力障碍组，包括意志力和情绪表达减少。总体而言，22q11.2DS 中认知缺陷水平与阴性症状严重程度之间几乎没有显着相关性，并且仅在特拉维夫队列中存在显着相关性。我们的研究结果表明，处于患精神病风险年龄的 22q11.2DS 个体应密切监测阴性症状。
About one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34–11.34) or IDD (OR=5.05, 95% CI=3.01–10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms.