CAJ | 학술논문

孤独症谱系障碍(ASD)是一种可能由遗传及环境因素共同作用所导致的复杂性精神障碍,其临床诊断主要基于行为表现且预后不佳.ASD的病因、病理、表型在不同患者之间存在很大异质性,增加了临床诊疗的难度,需要发展有效的工具筛选同质性个体以便制定优化治疗方案.现综述现有多模态神经影像学技术与基因技术等在ASD研究中的应用与进展.现有研究进展表明将多模态神经影像学技术与基因技术有机结合有望揭示ASD的病理机制、发现有助于ASD诊断的客观生物学指标,是实现早期、准确诊断ASD的重要途径之一.
고독증보계장애(ASD)시일충가능유유전급배경인소공동작용소도치적복잡성정신장애,기림상진단주요기우행위표현차예후불가.ASD적병인、병리、표형재불동환자지간존재흔대이질성,증가료림상진료적난도,수요발전유효적공구사선동질성개체이편제정우화치료방안.현종술현유다모태신경영상학기술여기인기술등재ASD연구중적응용여진전.현유연구진전표명장다모태신경영상학기술여기인기술유궤결합유망게시ASD적병리궤제、발현유조우ASD진단적객관생물학지표,시실현조기、준학진단ASD적중요도경지일.
Autism spectrum disorders (ASD) is a complex,behaviorally defined,mental disorder with uncertain causes although it is more likely caused by the interaction of genetic and environmental factors.ASD's heterogeneity in pathology and phenotype makes it difficult to accurately diagnose individual patients.Therefore,it is an urgent need to develop effective tools for screening susceptible individuals for early diagnosis and treatment.This paper reviews recent neuroimaging and imaging genetic studies of ASD.The existing results indicate that proper combination of multimodal neuroimaging techniques and genetic technology is expected to reveal the pathological mechanism of ASD and might help find objective biomarkers for achieving an early and accurate diagnosis of ASD.