Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome

作者：Larsen Kit Melissa^*; Morup Morten; Birknow Michelle Rosgaard; Fischer Elvira; Hulme Oliver; Vangkilde Anders; Schmock Henriette; Baare William Frans Christiaan; Didriksen Michael; Olsen Line; Werge Thomas; Siebner Hartwig R; Garrido Marta I

来源：Schizophrenia Research, 2018, 197: 328-336.

DOI：10.1016/J.schres.2018.01.026

• 22q11 deletion syndrome
• Dynamic causal modelling
• EEG
• Mismatch negativity
• N1 component

22q11.2 deletion syndrome (22q11.2DS) is one of the most common copy number variants and confers a markedly increased risk for schizophrenia. As such, 22q11.2DS is a homogeneous genelic liability model which enables studies to delineale functional abnormalities that may precede disease onset.. Mismatch negativity (MMN), a brain marker of change detection, is reduced in people with schizophrenia compared to healthy controls. Using dynamic causal modelling (DCM), previous studies showed that Lop-down effective connectivity linking the frontal and temporal cortex is reduced in schizophrenia relative to healthy controls in MMN tasks. In the search for early risk-markers for schizophrenia we investigated the neural basis of change detection in a group with 22q11.2DS. We recorded high-density EEG from 19 young non psychotic 22811.2 deletion carriers, as well as from 27 healthy non-carriers with comparable age distribution and sex ratio, while they listened to a sequence of sounds arranged in a roving oddball paradigm. Despite finding no significant reduction in the MMN responses, whole-scalp spatiotemporal analysis of responses to the tones revealed a greater Pronto-temporal N1 component in the 22q11.2 deletion carriers. DCM showed reduced intrinsic connection within right primary auditory cortex as well as in the top clown, connection from the right inferior frontal gyms to right superior temporal gyrus for 22q11.2 deletion carriers although not surviving correction for multiple comparison. We discuss these findings in terms of reduced adaptation and a general increased sensitivity to tones in 22q11.2DS.

• 出版日期2018-7
• 单位上海市精神卫生中心