Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.
Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.
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DOI：
10.3389/fnins.2022.815933
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发表时间：
2022
影响因子：
4.3
通讯作者：
Foss-Feig, Jennifer H.
中科院分区：
文献类型：
--
作者：
Isenstein, Emily L.;Grosman, Hannah E.;Guillory, Sylvia B.;Zhang, Yian;Barkley, Sarah;McLaughlin, Christopher S.;Levy, Tess;Halpern, Danielle;Siper, Paige M.;Buxbaum, Joseph D.;Kolevzon, Alexander;Foss-Feig, Jennifer H.
关键词：
M-M综合征（PMS）是一种罕见的遗传性疾病，由22号染色体末端SHANK 3基因的缺失或序列变异引起，其赋予共病自闭症谱系障碍（ASD）的高可能性。虽然患有特发性ASD（iASD）的个体可以表现出不同的感觉差异模式，但PMS的主要特征是感觉低反应性。本研究使用电生理学和被动听觉习惯化范式来测试低反应性的神经标志物。记录了15名PMS患者、15名iASD患者和16名神经典型发育（NT）患者的EEG，同时重复呈现一系列连续的4个1,000 Hz音调。我们在iASD和PMS患者中发现了完整的N1，P2和N2事件相关电位（ERP）和对简单听觉刺激的习惯化。iASD和PMS组均显示出对初始音调的稳健反应和对每个后续音调的衰减反应，其水平与NT对照组相当。然而，在PMS中，更大的初始N1振幅和习惯性与听觉超敏反应相关，P2习惯性与ASD的行为学相关。此外，将PMS队列进一步分类为遗传分组揭示了初始P2振幅的分离和N1的习惯化，这是基于缺失是否包括除SHANK 3之外的其他基因以及那些被认为对表型没有贡献的基因。这些结果提供了初步的洞察PMS的早期听觉处理，并表明，虽然神经反应和习惯性通常是保留在PMS，基因型和表型特征可能会驱动一些变异。这些初步的发现提供了早期的证据表明，PMS中的行为低反应性的强大模式可能是由于，至少在听觉上，更高阶的因素。
Phelan-McDermid Syndrome (PMS) is a rare genetic disorder caused by deletion or sequence variation in the SHANK3 gene at terminal chromosome 22 that confers high likelihood of comorbid autism spectrum disorder (ASD). Whereas individuals with idiopathic ASD (iASD) can demonstrate diverse patterns of sensory differences, PMS is mainly characterized by sensory hyporesponsiveness. This study used electrophysiology and a passive auditory habituation paradigm to test for neural markers of hyporesponsiveness. EEG was recorded from 15 individuals with PMS, 15 with iASD, and 16 with neurotypical development (NT) while a series of four consecutive 1,000 Hz tones was repeatedly presented. We found intact N1, P2, and N2 event-related potentials (ERPs) and habituation to simple auditory stimuli, both in individuals with iASD and in those with PMS. Both iASD and PMS groups showed robust responses to the initial tone and decaying responses to each subsequent tone, at levels comparable to the NT control group. However, in PMS greater initial N1 amplitude and habituation were associated with auditory hypersensitivity, and P2 habituation correlated with ASD symptomatology. Additionally, further classification of the PMS cohort into genetic groupings revealed dissociation of initial P2 amplitude and habituation of N1 based on whether the deletions included additional genes beyond solely SHANK3 and those not thought to contribute to phenotype. These results provide preliminary insight into early auditory processing in PMS and suggest that while neural response and habituation is generally preserved in PMS, genotypic and phenotypic characteristics may drive some variability. These initial findings provide early evidence that the robust pattern of behavioral hyporesponsiveness in PMS may be due, at least in audition, to higher order factors.
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影响因子：
4.9
作者：
Kolevzon A;Angarita B;Bush L;Wang AT;Frank Y;Yang A;Rapaport R;Saland J;Srivastava S;Farrell C;Edelmann LJ;Buxbaum JD
通讯作者：
Buxbaum JD
DOI：
10.1016/0013-4694(70)90183-5
发表时间：
1970-01-01
期刊：
ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY
影响因子：
--
作者：
FRUHSTOR.H;SOVERI, P;JARVILEH.T
通讯作者：
JARVILEH.T
影响因子：
4.7
作者：
Engineer, Crystal T.;Rahebi, Kimiya C.;Kilgard, Michael P.
通讯作者：
Kilgard, Michael P.
影响因子：
3
作者：
Budd, TW;Barry, RJ;Michie, PT
通讯作者：
Michie, PT
影响因子：
4.9
作者：
Burdeus-Olavarrieta M;San José-Cáceres A;García-Alcón A;González-Peñas J;Hernández-Jusdado P;Parellada-Redondo M
通讯作者：
Parellada-Redondo M