Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations
Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations
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DOI：
10.1016/j.bpsc.2020.04.015
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发表时间：
2020-09-01
影响因子：
5.9
通讯作者：
Eliez, Stephan
中科院分区：
文献类型：
--
作者：
Mancini, Valentina;Zoeller, Daniela;Eliez, Stephan
背景：对精神分裂症患者的几项研究表明，丘脑体积和丘脑皮质连接异常。具体来说，与躯体感觉区域的超连通性与幻听（AH）的存在有关。22q11.2缺失综合征是一种神经遗传性疾病，赋予倾向发展为精神分裂症，和缺失载体（22 qdel载体）的经验幻觉在更大程度上比一般population.METHODS：我们获得了442连续磁共振成像扫描从120 22 qdel载体和110对照组每3年（年龄范围：8-35岁）。用FreeSurfer获得丘脑核的体积，并在22 qdel携带者和对照受试者之间以及在有和没有AH的22 qdel携带者之间进行比较。在一个亚组的76个22 qdel载体，我们评估了丘脑核团之间的功能连接影响患者经历AH和皮质regions.RESULTS：作为与对照组相比，22 qdel载体有较低和较高的体积的核参与感觉处理和认知功能，分别。22 qdel携带者与AH有一个较小的体积内侧膝状体核，与偏离轨迹显示了一个陡峭的体积下降，从儿童期相对于那些没有AH。此外，我们还发现，在前额叶皮层和海马体之间，（前腹和中腹联合核）和内侧膝状体核和前腹核与听觉皮层和Wernicke区的超连通性。内侧膝状体核和前腹侧核与听皮层的连接增强可能是丘脑皮质发育不成熟的结果连通性。总的来说，我们的研究结果指向一个异常的丘脑核团的发展和一个不成熟的模式连接与颞区有关的AH。
BACKGROUND: Several studies in patients with schizophrenia have demonstrated an abnormal thalamic volume and thalamocortical connectivity. Specifically, hyperconnectivity with somatosensory areas has been related to the presence of auditory hallucinations (AHs). The 22q11.2 deletion syndrome is a neurogenetic disorder conferring proneness to develop schizophrenia, and deletion carriers (22qdel carriers) experience hallucinations to a greater extent than the general population.METHODS: We acquired 442 consecutive magnetic resonance imaging scans from 120 22qdel carriers and 110 control subjects every 3 years (age range: 8-35 years). The volume of thalamic nuclei was obtained with FreeSurfer and was compared between 22qdel carriers and control subjects and between 22qdel carriers with and without AHs. In a subgroup of 76 22qdel carriers, we evaluated the functional connectivity between thalamic nuclei affected in patients experiencing AHs and cortical regions.RESULTS: As compared with control subjects, 22qdel carriers had lower and higher volumes of nuclei involved in sensory processing and cognitive functions, respectively. 22qdel carriers with AHs had a smaller volume of the medial geniculate nucleus, with deviant trajectories showing a steeper volume decrease from childhood with respect to those without AHs. Moreover, we showed an aberrant development of nuclei intercalated between the prefrontal cortex and hippocampus (the anteroventral and medioventral reuniens nuclei) and hyperconnectivity of the medial geniculate nucleus and anteroventral nucleus with the auditory cortex and Wernicke's area.CONCLUSIONS: The increased connectivity of the medial geniculate nucleus and anteroventral nucleus to the auditory cortex might be interpreted as a lack of maturation of thalamocortical connectivity. Overall, our findings point toward an aberrant development of thalamic nuclei and an immature pattern of connectivity with temporal regions in relation to AHs.