导 读
感谢小丫丫自闭症团队（ID：xiaoyaya-autism），为我们翻译了这么重要的一篇文章。它虽不能解决我们眼前的干预困难，但却能帮助我们更好地走进、读懂、预防这一障碍。
本文经自美国Simons基金会的网站，www.spectrumnews.org授权翻译。Spectrum网站每年末推出10篇值得关注的科研论文。今年的文章内容主要三个方面：
1.自闭症的致病机制在基因层面的研究，以及眼睛对视能力可能是由于基因的影响；
2.自闭症早期诊断的生物标识的研究包括对大脑进行扫面和大脑的增长速度；
3.干预方法的研究包括对父母的教育和PRT教学中大脑活动模式的扫描以预测最有效的干预方法。
本着尊重原创作者，尊重Simons基金会的原则，我们忠实的翻译全文。请注意，这些只是初级的研究成果，还不足以应用到临床，其准确性也需要经过更多研究的检验，请批判地阅读。
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1.Sizeable fraction of autism risk traced to ‘mosaic’ mutations and Large study shines spotlight on‘mosaic’ mutations in autism
Mutations that appear in only some of the body’s cells play a bigger role in autism than previously thought. Some mutations associated with autism that were thought to arise spontaneously are actually inherited from parents, who are mosaic for the mutations themselves.
Krupp D.R.et al.Am.J.Hum.Genet. 101,369-390(2017) PubMed
Lim E.T.et al.Nat.Neurosci. 20,1217-1224 (2017) PubMed
1.相当部分的自闭症致病机制可以归结为“嵌合突变”，两篇文章表明“嵌合突变”与自闭症相关
最近的大规模研究证明，嵌合突变在自闭症的发病中所起的作用比原先想象的要大。很多曾经被归因于自发突变所导致的自闭病例，现在被证实是遗传了父母身上的嵌合突变。
2.Genetics guides gaze during social interactions, study finds
The tendency of people with autism to avoid eye contact is rooted in genetics. This finding suggests that social-gaze patterns are heritable and may serve as an early marker of autism.
Constantino J.N.et al.Nature 547,340-344 PubMed
2.研究发现基因决定了社交中的眼睛对视
自闭症谱系人士往往逃避眼睛对视，这个和基因有关。这个发现认为，与社交有关的眼睛对视有遗传性，而且可能成为自闭症早期诊断的一个标记。
3.Oxytocin spray boosts social skills in children with autism
Treatment with the hormone oxytocin, also known as the ‘love hormone,’ boosts social skills in some children with autism. Children with low levels of the hormone show the biggest improvement.
Parker K.J.et al.Proc.Natl.Acad.Sci.USA 114,8119-8124 PubMed
3.通过鼻子喷催产素提高自闭症儿童的社交能力
在一些自闭症儿童身上喷催产素，也称“爱的荷尔蒙”，有助于提高他们的社交技能。那些体内荷尔蒙含量低的孩子，进步最大。
4.Brain scans may forecast autism in high-risk infants
Patterns of brain activity in 6-month-old babies accurately predict which of them will be diagnosed with autism at age 2. The findings hint at the possibility of using brain scans to detect autism in infants.
Emerson.R.W.et.al.Sc.Transl.Med.9,eaag2882(2017)
PubMed
4.大脑扫描可能预测高风险婴儿的自闭症
6个月大孩子的大脑活动模式精确地预测出那些孩子在2岁时诊断为自闭症。这个发现表明，大脑扫描可能用来在幼儿中诊断自闭症。
5.Parents' interactions with infants may alleviate autism features
Teaching parents to respond to cues from babies at high risk of autism eases the severity of autism features at age 3. The finding suggests interventions aimed at parents can spark lasting gains in children.
Green J.et al.J.ChildPsychol.Psychiatry 58,1330-1340(2017) PubMed
5.父母与孩子的互动可能减轻自闭症症状
教导父母如何回应与那些高风险儿童的交流可以降低儿童在三岁时的自闭症症状的严重性。这个发现表明，对父母的教育可以帮助到孩子。
6.Sequencing thousands of whole genomes yields new autism genes
An analysis of whole-genome sequences from more than 5,000 people has unearthed 18 new candidate genes for autism. Most of the new candidates play roles in cellular processes already implicated in autism and intellectual disability, and some point to possible new treatments.
Yuen R.K.et al.Nat.Neurosci.20,602-611(2017) PubMed
6.对数以千计个体的全基因测序发现新的自闭症致病基因
对5000名个体的全基因序列分析，发现了18个新的可能致病基因。这些新的基因在那些已知的自闭症和智力障碍相关的细胞过程中起重要作用，一些基因发现可能会引导出新的治疗方法。
7.Parental origin may alter gene copies' expression in brain
Some neurons preferentially express the copy of a gene inherited from one parent over that inherited from the other, according to research in mice and monkeys.The findings challenge the long-held assumption that most cells express both copies of a gene equally.
Huang W.C.et al.Neuron 93, 1094-1109(2017)PubMed
7.基因的不同来源可能改变其在大脑中的表达
根据对小老鼠和猴子的模型研究，一些神经元更容易表达来自于其中一方家长的基因，而不是另外一方。这个发现对一贯认为的，多数细胞对父母双方的基因表达水平一致的观点提出了挑战。
8.Rapid brain growth in infancy may signal autism
The faster the brains of children with autism grow in their first year of life, the more severe their autism features are likely to be at age 2. Doctors might one day use brain growth in infancy to predict whether a child has autism.
Hazlett H.C.et al. Nature 542,348-351(2017) PubMedd
8.婴儿期大脑的快速增长可能成为自闭症的标识
自闭症儿童在一岁之前，大脑增长越快，他们在2岁时自闭症的症状越严重。在未来某天，医生有可能利用大脑的增长速度来预测孩子是否有自闭症。
9.Diverse causes of autism converge on common gene signature
The brains of people with autism have a distinct molecular signature, according to the largest-yet postmortem study of people with the condition. The signature reflects alterations in how genes are pieced together and expressed.
Parikshak N.N.et al.Nature 540,423-427(2016) PubMed
9.不同的自闭症致病机制集中在同样的基因标志上
根据目前最大的一个对已经逝去的自闭症患者的遗体研究表明，自闭症人士的大脑有一个明显的分子信号标识。这个标识反映了基因拼揍在一起进行表达的不同方式。
10.Brain scans may forecast effectiveness of autism treatment
Patterns of activity in the social brain predict how much a child’s autism features will improve aftera behavioral therapy called pivotal response treatment. The findings hint that brain scans could help clinicians select the most promising treatment for a child with autism.
Yang D.et al.Transl.Psychiatry 6,e948(2016) PubMed
10.大脑扫描可能预测自闭症患者干预的有效性
在使用关键反应训练的行为干预后，大脑中主导社交的部分活动方式可以预测自闭症儿童的进步程度。这个发现表明，大脑扫描可能帮助干预老师选择对孩子的最有效的干预方法。
原文发表于2017年12月22日，该网站授权翻译声明如下：
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