Autism spectrum disorder.

Autism spectrum disorder.
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自闭症谱系障碍。

DOI:
10.1038/s41572-019-0138-4
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发表时间:
2020-01-16
期刊:
Nature reviews. Disease primers
影响因子:
--
通讯作者:
Veenstra-VanderWeele J
Veenstra-VanderWeele J
中科院分区:
其他
文献类型:
--
作者:
Lord C;Brugha TS;Charman T;Cusack J;Dumas G;Frazier T;Jones EJH;Jones RM;Pickles A;State MW;Taylor JL;Veenstra-VanderWeele J

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自闭症谱系障碍是一种结构,用于描述在社会交往和重复行为中具有特定组合的障碍,高度限制的兴趣和/或在生命早期开始的感觉行为的个体。自闭症的全球患病率略低于1%,但在高收入国家估计更高。虽然大脑病理学不是自闭症的特征,但在尸检、神经影像学和电生理学研究中观察到了细微的解剖和功能差异。最初,人们希望对行为表型的准确测量将导致特定的遗传亚型,但遗传学研究结果主要适用于非自闭症特异性的异质群体。对儿童的心理社会干预可以改善特定行为,如共同注意力、语言和社会参与,这可能会影响进一步发展,并可能降低症状的严重程度。然而,有必要进一步研究,以确定自闭症患者的长期需求,以及治疗方法及其背后的机制,这些机制可能会随着时间的推移而提高独立性和生活质量。家庭往往是自闭症患者一生中的主要支持来源,在研究和实践中,都需要沿着自闭症患者的观点。
Autism spectrum disorder is a construct used to describe individuals with a specific combination of impairments in social communication and repetitive behaviours, highly restricted interests and/or sensory behaviours beginning early in life. The worldwide prevalence of autism is just under 1%, but estimates are higher in high-income countries. Although gross brain pathology is not characteristic of autism, subtle anatomical and functional differences have been observed in post-mortem, neuroimaging and electrophysiological studies. Initially, it was hoped that accurate measurement of behavioural phenotypes would lead to specific genetic subtypes, but genetic findings have mainly applied to heterogeneous groups that are not specific to autism. Psychosocial interventions in children can improve specific behaviours, such as joint attention, language and social engagement, that may affect further development and could reduce symptom severity. However, further research is necessary to identify the long-term needs of people with autism, and treatments and the mechanisms behind them that could result in improved independence and quality of life over time. Families are often the major source of support for people with autism throughout much of life and need to be considered, along with the perspectives of autistic individuals, in both research and practice.
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