Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication
Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication
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DOI：
10.1016/j.bpsc.2019.11.005
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发表时间：
2020-10-01
影响因子：
5.9
通讯作者：
Roberts, Timothy P. L.
中科院分区：
文献类型：
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作者：
Matsuzaki, Junko;Berman, Jeffrey, I;Roberts, Timothy P. L.
背景技术背景：染色体16p11.2的BP 4-BP 5片段缺失或重复的个体具有不同的行为表型，可能包括自闭症特征，轻度至中度智力残疾和/或语言障碍。然而，在16p11.2缺失和16p11.2重复个体中听觉语言辨别加工的神经生理学相关性尚未被研究。采用脑磁图技术，在听觉oddball范式中，测量元音刺激时左右上级颞回产生的磁失配场（MMFs（/a/和/u/）在16p11.2缺失或16p11.2重复的儿童和青少年中以及在典型发育的同龄人中。128名年龄从7岁到17岁的参与者被纳入最终分析（典型发展：n = 61，12.08 +/- 2.50岁; 16p11.2缺失：n = 45，11.28 +/- 2.51岁;和16p11.2重复：结果：16p11.2缺失组和16p11.2重复组与正常发育组相比，均出现了迟发性MMF潜伏期。此外，这些延迟的MMF潜伏期与语言和认知能力相关，潜伏期延长预示着更大的损害。我们的研究结果表明，听觉MMF反应延迟与16p11.2缺失或16p11.2重复个体的语言和认知障碍的临床严重程度相关，表明它们共有/重叠的行为表型的相关性（而不是基因剂量的相关性）。
BACKGROUND: Individuals with either deletion or duplication of the BP4-BP5 segment of chromosome 16p11.2 have varied behavioral phenotypes that may include autistic features, mild to moderate intellectual disability, and/or language impairment. However, the neurophysiological correlates of auditory language discrimination processing in individuals with 16p11.2 deletion and 16p11.2 duplication have not been investigated.METHODS: Magnetoencephalography was used to measure magnetic mismatch fields (MMFs) arising from the left and right superior temporal gyrus during an auditory oddball paradigm with vowel stimuli (/a/ and /u/) in children and adolescents with 16p11.2 deletion or 16p11.2 duplication and in typically developing peers. One hundred twenty-eight participants ranging from 7 to 17 years of age were included in the final analysis (typically developing: n = 61, 12.08 +/- 2.50 years of age; 16p11.2 deletion: n = 45, 11.28 +/- 2.51 years of age; and 16p11.2 duplication: n = 22, 10.73 +/- 2.49 years of age).RESULTS: Delayed MMF latencies were found in both 16p11.2 deletion and 16p11.2 duplication groups compared with typically developing subjects. In addition, these delayed MMF latencies were associated with language and cognitive ability, with prolonged latency predicting greater impairment.CONCLUSIONS: Our findings suggest that auditory MMF response delays are associated with clinical severity of language and cognitive impairment in individuals with either 16p11.2 deletion or 16p11.2 duplication, indicating a correlate of their shared/overlapping behavioral phenotype (and not a correlate of gene dosage).