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Autism spectrum disorder.
Nature Reviews Disease Primers ( IF 81.5 ) Pub Date : 2020-01-16 , DOI: 10.1038/s41572-019-0138-4
Catherine Lord 1 , Traolach S Brugha 2 , Tony Charman 3 , James Cusack 4 , Guillaume Dumas 5 , Thomas Frazier 6 , Emily J H Jones 7 , Rebecca M Jones 8, 9 , Andrew Pickles 3 , Matthew W State 10 , Julie Lounds Taylor 11 , Jeremy Veenstra-VanderWeele 12
Affiliation  

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.

中文翻译:

自闭症谱系障碍。

自闭症谱系障碍是一种用于描述具有特定组合的社会交流障碍和重复行为、高度受限的兴趣和/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%,但高收入国家的估计值更高。虽然大体的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已经观察到细微的解剖学和功能差异。最初,人们希望准确测量行为表型会导致特定的遗传亚型,但遗传发现主要适用于非自闭症的异质群体。对儿童进行心理社会干预可以改善特定行为,例如共同关注、语言和社会参与,这可能会影响进一步的发展,并可能减轻症状的严重程度。然而,需要进一步的研究来确定自闭症患者的长期需求、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。家庭通常是自闭症患者一生中大部分时间的主要支持来源,在研究和实践中需要与自闭症患者的观点一起考虑。
更新日期:2020-01-16
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