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The distribution of autistic traits across the autism spectrum: evidence for discontinuous dimensional subpopulations underlying the autism continuum.自闭症谱系中自闭症特质的分布:自闭症连续体下存在不连续维度亚群的证据。
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Pleiotropic Mechanisms Indicated for Sex Differences in Autism.自闭症性别差异的多效性机制
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本文引用的文献

1
Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority.自闭症谱系障碍中的性别差异:总结证据空白并确定新出现的优先领域。
Mol Autism. 2015 Jun 13;6:36. doi: 10.1186/s13229-015-0019-y. eCollection 2015.
2
Sex differences in the corpus callosum in preschool-aged children with autism spectrum disorder.患有自闭症谱系障碍的学龄前儿童胼胝体的性别差异。
Mol Autism. 2015 May 13;6:26. doi: 10.1186/s13229-015-0005-4. eCollection 2015.
3
Understanding autism in the light of sex/gender.从性别角度理解自闭症。
Mol Autism. 2015 May 13;6:24. doi: 10.1186/s13229-015-0021-4. eCollection 2015.
4
The contribution of de novo coding mutations to autism spectrum disorder.新生编码突变对自闭症谱系障碍的影响。
Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.
5
Synaptic, transcriptional and chromatin genes disrupted in autism.在自闭症中受到破坏的突触、转录和染色质基因。
Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29.
6
Elevated fetal steroidogenic activity in autism.自闭症中胎儿类固醇生成活性升高。
Mol Psychiatry. 2015 Mar;20(3):369-76. doi: 10.1038/mp.2014.48. Epub 2014 Jun 3.
7
Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010.8 岁儿童自闭症谱系障碍患病率 - 自闭症和发育障碍监测网络,11 个地点,美国,2010 年。
MMWR Surveill Summ. 2014 Mar 28;63(2):1-21.
8
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.女性中更高的突变负担支持神经发育障碍中的“女性保护模型”。
Am J Hum Genet. 2014 Mar 6;94(3):415-25. doi: 10.1016/j.ajhg.2014.02.001. Epub 2014 Feb 27.
9
Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection.西蒙斯单纯型自闭症患者中女性和男性的行为及认知特征。
J Am Acad Child Adolesc Psychiatry. 2014 Mar;53(3):329-40.e1-3. doi: 10.1016/j.jaac.2013.12.004. Epub 2013 Dec 24.
10
De novo gene disruptions in children on the autistic spectrum.自闭症谱系儿童中的新生基因缺失。
Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009.

下一代自闭症科学家对性与性别差异的思考。

Thoughts about sex and gender differences from the next generation of autism scientists.

作者信息

Singer Lauren

机构信息

Scarsdale High School, 1057 White Plains Road, Scarsdale 10583 NY, USA.

出版信息

Mol Autism. 2015 Sep 17;6:52. doi: 10.1186/s13229-015-0046-8. eCollection 2015.

DOI:10.1186/s13229-015-0046-8
PMID:26388981
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4574348/
Abstract

According to the CDC, males are four times more likely to be diagnosed with autism than females. New studies have shown that girls need a higher burden of genetic mutation to be diagnosed with autism than males. These findings are leading researchers to a new avenue of investigation called the female protective effect. This theory holds that even when females carry mutations in autism-linked genes, the effect of the mutations is prevented when the level of genetic disruption is low. Understanding the biology behind this protective effect and studying females independently from males could lead to major advancements in the prevention and treatment of ASD in both males and females.

摘要

根据美国疾病控制与预防中心(CDC)的数据,男性被诊断患有自闭症的可能性是女性的四倍。新的研究表明,与男性相比,女孩需要更高的基因突变负荷才会被诊断为自闭症。这些发现引导研究人员走向一条名为女性保护效应的新研究途径。该理论认为,即使女性携带与自闭症相关基因的突变,当基因破坏水平较低时,突变的影响也会被阻止。了解这种保护效应背后的生物学机制,并将女性与男性分开进行研究,可能会在男性和女性自闭症谱系障碍(ASD)的预防和治疗方面取得重大进展。