Autism Spectrum Disorders: Multiple Routes to, and Multiple Consequences of, Abnormal Synaptic Function and Connectivity.
Autism Spectrum Disorders: Multiple Routes to, and Multiple Consequences of, Abnormal Synaptic Function and Connectivity.
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自闭症谱系障碍：异常突触功能和连接的多种途径和多种后果。
DOI：
10.1177/1073858420921378
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发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Menassa DA
中科院分区：
文献类型：
--
作者：
Carroll L;Braeutigam S;Dawes JM;Krsnik Z;Kostovic I;Coutinho E;Dewing JM;Horton CA;Gomez-Nicola D;Menassa DA
自闭症谱系障碍（ASD）是一组异质性的神经发育障碍的遗传和环境病因。一些ASD病例是综合征型的：与临床定义的躯体异常模式和神经行为表型（例如，脆性X综合征）。然而，许多病例是特发性或非综合征性的。这些障碍出现在出生后的早期，语言，言语和个性开始发展。ASD表现为社会沟通和互动的缺陷，多种环境中的受限和重复行为模式，多种形式的感觉异常和合并症，如癫痫等。ASD是连接性障碍，因为突触功能障碍在综合征和特发性形式中都是常见的。虽然已经提出了多种理论，特别是在特发性ASD中，但没有一种理论能够解决为什么某些大脑区域（例如，额颞叶）似乎比其他人更脆弱，或确定可能影响表型特异性的因素。在这篇假说文章中，我们确定了可能的路线，导致的后果，改变连接和审查的证据，中央和外周突触功能障碍的ASD。我们假设，表型特异性可能会出现异常的经验依赖性可塑性机制在额叶脑区和外周感觉网络，并提出为什么这些领域的脆弱性可能是一个模型的一部分，以统一现有的病理生理学理论。
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders of genetic and environmental etiologies. Some ASD cases are syndromic: associated with clinically defined patterns of somatic abnormalities and a neurobehavioral phenotype (e.g., Fragile X syndrome). Many cases, however, are idiopathic or non-syndromic. Such disorders present themselves during the early postnatal period when language, speech, and personality start to develop. ASDs manifest by deficits in social communication and interaction, restricted and repetitive patterns of behavior across multiple contexts, sensory abnormalities across multiple modalities and comorbidities, such as epilepsy among many others. ASDs are disorders of connectivity, as synaptic dysfunction is common to both syndromic and idiopathic forms. While multiple theories have been proposed, particularly in idiopathic ASDs, none address why certain brain areas (e.g., frontotemporal) appear more vulnerable than others or identify factors that may affect phenotypic specificity. In this hypothesis article, we identify possible routes leading to, and the consequences of, altered connectivity and review the evidence of central and peripheral synaptic dysfunction in ASDs. We postulate that phenotypic specificity could arise from aberrant experience-dependent plasticity mechanisms in frontal brain areas and peripheral sensory networks and propose why the vulnerability of these areas could be part of a model to unify preexisting pathophysiological theories.
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影响因子：
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DOI：
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发表时间：
1989-06-01
影响因子：
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DOI：
10.1073/pnas.1112667108
发表时间：
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11.1
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