Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.
Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.
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22q11.2 缺失综合征精神病患者与非精神病患者的神经认知特征。
DOI：
10.1016/j.euroneuro.2016.08.003
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Gothelf,Doron
中科院分区：
文献类型：
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作者：
Weinberger,Ronnie;Yi,James;Calkins,Monica;Guri,Yael;McDonald-McGinn,DonnaM;Emanuel,BeverlyS;Zackai,ElaineH;Ruparel,Kosha;Carmel,Miri;Michaelovsky,Elena;Weizman,Abraham;Gur,RubenC;Gur,RaquelE;Gothelf,Doron
22q11.2缺失综合征（22q11DS）与精神病性障碍和认知缺陷的发生率增加有关，但需要大规模研究来阐明它们的相互作用。这项双中心研究的目的是确定22q11DS和精神病患者的神经认知表型。我们假设精神病性22q11DS缺失个体比非精神病性缺失个体有更严重的神经认知缺陷，尤其是在执行功能和社会认知方面。从特拉维夫和费城中心确定了三组：22q11DS精神病患者（n=31），非精神病22q11DS患者（n=86）和典型发展对照组（TD，n=828）。在特拉维夫，还纳入了一组智商与22 q11 DS精神病组相匹配的WS患者（n=18）。宾夕法尼亚大学计算机神经认知成套测验（CNB）被用来评估广泛的认知功能，所有患者都接受了结构化的精神病评估。与TD相比，22q11DS个体在所有CNB域上表现较差。与非精神病性22q11DS相比，患有22q11DS和精神病的参与者在整体神经认知表现（GNP）、执行功能、社会认知和情景记忆领域有更严重的缺陷。主要赤字也显着比较时，特拉维夫22 q11 DS精神病组与智商匹配的个人与WS。总之，22 q11 DS个人与精神病性障碍有特定的神经认知功能障碍，可靠地确定跨国籍使用CNB。这些认知功能障碍应作为22q11DS中精神病的潜在内在表型和干预目标进行进一步研究。
The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition. These deficits would be present when compared to IQ- matched individuals with Williams Syndrome (WS).Three groups were ascertained from the Tel Aviv and Philadelphia centers: 22q11DS individuals with a psychotic disorder (n=31), nonpsychotic 22q11DS (n=86) and typically-developing controls (TD,n=828). In Tel Aviv a group of individuals with WS (n=18) matched in IQ to the 22q11DS psychotic group was also included. The Penn Computerized Neurocognitive Battery (CNB) was used to assess a wide-range of cognitive functions and all patients underwent structured psychiatric evaluations. 22q11DS individuals performed poorly on all CNB domains compared to TD. Participants with 22q11DS and psychosis, compared to nonpsychotic 22q11DS, had more severe deficits in global neurocognitive performance (GNP), executive function, social cognition and episodic memory domains. The primary deficits were also significant when comparing the Tel Aviv 22q11DS psychotic group to IQ-matched individuals with WS. In conclusion, 22q11DS individuals with a psychotic disorder have specific neurocognitive deficits that are reliably identified cross nationality using the CNB. These cognitive dysfunctions should be further studied as potential endophenotypes of psychosis in 22q11DS and as targets for intervention.