Objective:

22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.

Methods:

Subcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6–56 years; 49% female).

Results:

Compared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen’s d values, −0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen’s d values, −0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder.

Conclusions:

In the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

中文翻译：

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在 22q11.2 缺失综合征中绘制皮质下脑改变：缺失大小和与特发性神经精神疾病趋同的影响。

客观的：

22q11.2 缺失综合征 (22q11DS) 是已知最强的精神分裂症遗传风险因素之一。以前的研究报告了 22q11DS 皮层下脑结构的可变变化。为了更好地表征 22q11DS 的皮层下改变，包括临床和遗传异质性的调节作用，作者研究了来自 ENIGMA 22q11.2 缺失综合征工作组的大型多中心神经影像学队列。

方法：

在 533 名 22q11DS 个体和 330 名匹配的健康对照受试者（年龄范围，6-56 岁；49% 女性）中，使用统一的总体积和皮层下形状形态测量方案测量皮层下结构。

结果：

与对照组相比，22q11DS 组的颅内体积 (ICV) 和丘脑、壳核、海马和杏仁核体积较小，侧脑室、尾状核和伏隔核体积较大（Cohen's d 值，-0.90 至 0.93）。形状分析揭示了 22q11DS 组在所有结构中的复杂差异。与较小的 AB 缺失相比，较大的 AD 缺失与更广泛的形状改变有关。与没有精神病的 22q11DS 参与者相比，患有 22q11DS 精神病的参与者显示出较低的 ICV 和海马、杏仁核和丘脑体积（Cohen's d 值，-0.91 到 0.53）。形状分析显示这些结构的子区域的厚度和表面积较低。与 ENIGMA 联盟研究的其他神经精神疾病的皮层下发现相比，

结论：

在迄今为止最大规模的 22q11DS 神经影像学研究中，作者发现了皮质下大脑结构的广泛改变，这些改变受到缺失大小和精神病的影响。研究结果表明 22q11DS 相关精神病、特发性精神分裂症和其他严重的神经精神疾病之间存在显着重叠。