Spectrum |自闭症研究新闻 //www.definity-marketing.com 2021年9月17日星期五20:55:19 +0000 恩美 每小时 1. https://wordpress.org/?v=5.7 Spectrum |自闭症研究新闻 Spectrum |自闭症研究新闻 https://s3.amazonaws.com/spectrumnews-web-assets/wp-content/uploads/2018/07/17140056/SpokenLayerv5.jpg//www.definity-marketing.com 社区通讯:2021年会议频谱调查、贝叶斯精度、论文评论反馈 //www.definity-marketing.com/news/community-newsletter-spectrum-survey-on-2021-conferences-bayesian-precision-paper-review-feedback/ //www.definity-marketing.com/news/community-newsletter-spectrum-survey-on-2021-conferences-bayesian-precision-paper-review-feedback/#respond 切尔西B.库姆斯酒店 2021年9月19日星期日11:00:00+0000 新闻 自闭症 社区 //www.definity-marketing.com/?p=86895 在本周的社区通讯中,我们提供了一项关于未来几个月会议出席率的调查,一篇关于贝叶斯大脑与精确性的关系的论文,以及一条关于建设性同行评议的推特。

The post Community Newsletter:Spectrum | Autism Research News.

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大家好,欢迎收看本周的社区通讯!我是你的主持人,Chelsey B.CoombsSpectrum的订婚编辑。

在开始之前,我想让您了解a新的光谱调查调查。我们有兴趣了解孤独症研究人员如何在年底召开会议。你准备好回到本季会议的人群中了吗?或者你会在你的实验室(或沙发)上观看活动吗?让我们知道,并查看一篇有关该领域如何考虑未来的面对面会议的Spectrum文章。

本周在线,,英国伦敦大学金史密斯心理学讲师,”https://iris.ucl.ac.uk/iris/browse/profile?upi=CFRIT00“target=“\u blank”rel=“noopener”>伦敦大学学院神经心理学名誉教授克里斯·弗里斯(Chris Frith),写到了="https://doi.org/10.1016/j.cub.2021.07.044“target=“\u blank”rel=“noopener”>精确性对“贝叶斯大脑”的想法很重要。

当贝叶斯大脑理论谈论精确性时,它们到底意味着什么?在@CurrentBiology@cdfrith&我解释了精确性是如何影响对感知、学习、元认知和社会互动的思考的。但一些关键难题仍然没有解决https://t.co/lYV6SvSilq

-danielyon(@danieljamesyon)2021年9月13日https://platform.twitter.com/widgets.js“charset=“utf-8”>

贝叶斯大脑理论认为,人和动物在可靠性方面权衡先前的知识和传入的信息,并根据他们认为最可靠或准确的信息采取行动。作者写道,这一切都是关于评估不确定性的,它与孤独症直接相关。

“孤独症的特征,如对稳定和重复环境的偏好,可能是对传入证据的准确性过于强烈的信念的结果,因此我们感觉系统的每一次波动似乎都表明需要改变我们的环境模型(因此世界似乎不稳定)。”作者写道。

自闭症研究者伦敦大学学院认知发展名誉教授尤塔·弗里斯(与克里斯·弗里斯结婚)在推特上谈到了这项研究。

这是一本初级读物,解释了为什么在理论研究大脑如何工作时,精确性已成为如此重要的术语。
通过此共享链接免费访问论文的最终版本:
https://t.co/yC8FizH2uThttps://t.co/nHQSPjOJS3

-Uta-Frith(@utafrith)2021年9月14日https://platform.twitter.com/widgets.js“charset=“utf-8”>

一篇非常有用的论文&"干得好!

-Micah Allen(@micahgallen)2021年9月13日https://platform.twitter.com/widgets.js“charset=“utf-8”>

< BuffQueCype =“Twitter twitt”> P dir=“LTR”朗=“EN”。>关于一个我不太熟悉的主题的不错的初级读物。当谈论贝叶斯统计建模时,读这本书来做类比也很有趣。https://t.co/PYIYqfMqnh

-Sven De Maeyer(@svawa)September 13, 2021

Our next thread this week comes from David Mandell, professor of psychiatry at the University of Pennsylvania and Autism editor-in-chief. He tweeted that journal reviewers should be kind as they “shape the next generation” of academics.

Many researchers chimed in with their own experiences with reviewers.

Naomi Ekas, associate professor of psychology at the Texas Christian University in Fort Worth, tweeted about the harsh review of a paper that eventually became her most cited.

Alycia Halladay, chief science officer at the Autism Science Foundation, tweeted, “You are my inspiration for feedback to ASF applications.”

Jessica Dark, a graduate student in organizational psychology at Birbeck, University of London, wrote about her own positive review experience with an autism journal.

Don’t forget to register for our 28 September webinar, featuring Jeremy Veenstra-VanderWeele, professor of psychiatry at Columbia University, who will speak about goals for developing new drugs for autism — and the barriers researchers may encounter.

That’s it for this week’s Community Newsletter! If you have any suggestions for interesting social posts you saw in the autism research sphere, feel free to send an email to me at chelsey@spectrumnews.org. See you next week!

The post Community Newsletter: Spectrum survey on 2021 conferences, Bayesian precision, paper review feedback appeared first on Spectrum | Autism Research News.

//www.definity-marketing.com/news/community-newsletter-spectrum-survey-on-2021-conferences-bayesian-precision-paper-review-feedback/feed/ 0 严重感染可能会增加一些儿童患孤独症的几率 //www.definity-marketing.com/news/severe-infection-may-raise-odds-of-autism-in-some-children/ https://www.spectumews.org/news/severe-infection-may-raise-odds-of-autism-in-some-children/##响应 乔治·古列尔米 2021年9月17日星期五18:00:00+0000 新闻 自闭症 德赢ac官方合作伙伴 免疫系统 小神经胶质细胞 TSC2 肺结核硬化 //www.definity-marketing.com/?p=86886

模拟病毒感染会损害孤独症相关突变小鼠的社会记忆,孤独症男孩比非孤独症同龄人更可能在生命早期受到严重感染。

post严重感染可能会增加一些儿童患孤独症的几率首先出现在Spectrum |自闭症研究新闻

一项针对老鼠和人的新研究表明,儿童早期的严重感染与孤独症有关,至少在一些男孩中是如此。研究人员分析了美国数百万儿童的健康记录,发现被诊断为孤独症的男孩比非孤独症男孩更有可能在1岁半到4岁之间感染需要医疗护理的疾病。

研究还显示只有一个TSC2基因拷贝的新生小鼠会产生强烈的免疫反应,这是一种与自闭症相关的基因,导致成年雄性啮齿动物出现社会记忆问题。在人类中,TSC2突变导致结节性硬化症,一种以非癌性肿瘤和皮肤生长为特征的疾病。大约一半的结节性硬化症患者也患有孤独症。

“如果TSC2突变足以导致孤独症,那么每个有该突变的人都会患有孤独症,但他们没有,”高级研究员说http://www.silvalab.com/alcino_silva.html“target=“\u blank”rel=“noopener”>Alcino Silva,洛杉矶加利福尼亚大学学习与记忆综合中心主任。

< P>一个患有严重感染的孤独症患儿的几率://www.definity-marketing.com/news/severe-infections-childhood-may-boost-chances-autism-diagnosis/子对象中的“target=“\u blank”rel=“noopener”>或小胶质细胞,大脑中产生干扰素并帮助形成神经元连接

性别差异López Aranda说,小胶质细胞的数量和功能可以解释为什么免疫激活只会导致雄性TSC2小鼠的社会记忆问题。这一发现与观察到的孤独症大约是四倍的结论一致//www.definity-marketing.com/news/triple-hit-study-may-help-explain-autisms-male-bias/“target=“\u blank”rel=“努佩纳">男孩比女孩更普遍

消耗小胶质细胞或删除干扰素受体拯救了动物的社会记忆问题。给小鼠一种名为雷帕霉素的药物,该药物正在用于治疗结节性硬化症的试验中,可以抵消它们强烈的免疫激活,同时缓解它们的社会记忆问题。雷帕霉素通过抑制mTOR发挥作用,mTOR是一种在结节性硬化症和病毒感染反应中过度活跃的信号通路。

研究儿童早期的免疫激活是否与ocial and other behavioral difficulties in people, the researchers looked at the insurance claims of more than 3.5 million children across the U.S. Of these, 4,417 girls and 18,232 boys had been diagnosed with autism. Autistic boys had a 40 percent increased likelihood of having contracted an infection requiring medical attention between the ages of 1 and half and 4 years, the researchers found.

Two-hit model:

Many researchers have long focused on either genetic or environmental factors that could contribute to autism. By looking at the interplay of both, the new study is “a breath of fresh air,” says Mauro Costa-Mattioli, professor of neuroscience at Baylor College of Medicine in Houston, Texas, who was not involved in the research.

The results of the animal experiments provide a mechanism by which immune response to viral infection could lead to some autism-like traits, Costa-Mattioli says. However, he cautions that the analysis of medical records reveals only an association between severe infection and autism diagnosis. This doesn’t mean that the viral infection cause the behavioral difficulties associated with autism, he says.

It’s also possible that the boys who contracted a serious infection and went on to be diagnosed with autism have genetic mutations linked to autism, says Eric Klann, director of the Center for Neural Science at New York University, who was not involved in the study. If that was true, Klann says, it would support the ‘two-hit’ hypothesis that the interaction between genes and the environment can increase autism risk.

The work may also have clinical implications in that it indicates that rapamycin eases the detrimental effects a strong immune activation may have on social skills, Silva says.

“Of course, this needs to be tested and demonstrated in humans,” he says, “but our work suggests that it may just be possible.”

Cite this article: https://doi.org/10.53053/MQUR6777

The post Severe infection may raise odds of autism in some children appeared first on Spectrum | Autism Research News.

//www.definity-marketing.com/news/severe-infection-may-raise-odds-of-autism-in-some-children/feed/ 0
在网络上发现:性别比例的变化,自闭症药物,神经科学研究不平等 //www.definity-marketing.com/news/spotted/spotted-around-the-web-shifting-sex-ratio-autism-drugs-neuroscience-research-inequality/ //www.definity-marketing.com/news/spotted/spotted-around-the-web-shifting-sex-ratio-autism-drugs-neuroscience-research-inequality/#respond 吉尔·亚当斯 周五,9月17日11:00:21 +0000 斑点 自闭症 //www.definity-marketing.com/?p=86864

以下是9月13日这一周的新闻和研究综述。

邮报在网络上发现:性别比例变化、自闭症药物、,神经科学研究不平等性首先出现在//www.definity-marketing.com“>Spectrum |自闭症研究新闻

发帖 Spectrum | autism research News. //www.definity-marketing.com/news/spotted/spotted-around-the-web-shifting-sex-ratio-autism-drugs-neuroscience-research-inequality/feed/ 0 频谱调查:参加科学会议和会议 //www.definity-marketing.com/news/spectrum-survey-attending-scientific-conferences-and-meetings/ //www.definity-marketing.com/news/spectrum-survey-attending-scientific-conferences-and-meetings/#respond Angie Voyles Askham 星期四,16月16日2021 15:20:17 +0000 新闻 自闭症 //www.definity-marketing.com/?p=86870 通过参加一个简短的调查,帮助报告大流行对会议计划的影响。

The post <首先出现在Spectrum | Autism Research News.

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给所有孤独症研究者打电话:你如何看待即将召开的会议,比如今年11月的神经科学学会年会,它将以虚拟方式和面对面方式举行?你是否渴望回到面对面的聚会?面对面交流对推进工作至关重要吗?还是你对旅行犹豫不决?享受在家开会的便利?等待决定?

Spectrum正在撰写一篇关于今年年底科学家会议计划的报道。冠状病毒大流行极大地改变了科学家们分享研究成果的方式,其影响可能会持续多年。请通过拍摄关于您的计划和决策过程的简短调查。

引用本文:https://doi.org/10.53053/OXCT4853

帖子<;em>;频谱<;/em>;调查:参加科学会议首先出现在Spectrum |自闭症研究新闻

//www.definity-marketing.com/news/spectrum-survey-attending-scientific-conferences-and-meetings/feed/ 0
与自闭症相关的突变可能在男性精子中检测到 //www.definity-marketing.com/news/mutations-linked-to-autism-may-be-detectable-in-mens-sperm/ //www.definity-marketing.com/news/mutations-linked-to-autism-may-be-detectable-in-mens-sperm/#respond 艾玛Yasinski 9月16日星期四11:00:00 +0000 新闻 自闭症 新创突变 基因检测 镶嵌性 父母年龄 口语版 全基因组测序 https://www.spectumews.org/?p=86836.

一项先进的DNA测序技术已经在大约15名男性中发现了1例基因破坏性突变,其中一些与孤独症有关。

post在男性精子中可能检测到与孤独症相关的突变首先出现在Spectrum |自闭症研究新闻

大约1/15的男性只在他的精子中携带基因破坏性突变——其中一些与孤独症或先天性心脏病有关,一项小型研究表明。

一项先进的DNA测序技术在普通人群中的25名男性中检测到“镶嵌”突变镶嵌突变发生在受孕后,因此只发生在身体细胞的一小部分中。

“当你研究精子镶嵌时,你正处于下一代将要发生的事情的核心,”首席研究员 Joseph Gleeson ,圣地亚哥加利福尼亚大学神经科学和儿科学教授。//www.definity-marketing.com/news/fathers-age-dictates-rate-of-new-mutations/“target=“\u blank”rel=“noopener”>随着年龄的增长,精子中的突变不断积累。一些研究人员说,这些突变解释了为什么一个男人在30岁和50岁,而其他人则认为这些突变导致了不到上升可能性的10%。但新研究中检测到的突变的流行率在12个月内保持不变,这表明这些基因改变是在男性是胚胎时发生的。研究小组使用的先进测序方法还可以计算出儿童遗传突变的可能性s-随着时间的推移,相似的几率保持稳定。

他们表明镶嵌现象对孤独症和先天性心脏病是一个小但重要的因素,说 Anne Goriely,英国牛津大学人类遗传学副教授,他没有参与这项研究。“精子分析可以让你解决这个问题。”

M突变之谜

因为许多导致孤独症的基因突变无法在父母的血液中检测到,它们被认为是在受孕前后或在父母的卵子或精子中自发产生的,或者说是“从头开始的”弓箭手以前有过在患有自闭症儿童的父亲的精子中检测到这些从头突变。

但是,当研究小组介绍他们的发现时,“我们总是觉得我们得到了同样的问题,”研究调查员说//www.definity-marketing.com/author/martinbreuss/“target=“\u blank”rel=“noopener”<丹佛科罗拉多大学儿科临床遗传学和代谢学助理教授Martin Breuss < A/A>由于男性不断产生新的精子,在任何给定的精子样本中发现的突变仍会在随后的样本中出现,这些突变会随着年龄的增长而变得更普遍吗?此外,研究小组在一年的时间里,从25名男性身上采集了多达三次的血液和精子样本。这些男性年龄从18岁到70岁不等。研究人员对每个样本的整个基因组进行了至少300次测序,大约是传统方法的10倍。这种深度测序使他们能够自信地区分镶嵌突变“如果没有测序技术的进步,发现镶嵌突变几乎是不可能的,”研究人员说https://profiles.ucsd.edu/xiaoxu.yang“target=“\u blank”rel=“noopener”>Gleeson实验室的博士后研究员杨晓旭(Xiaoxu Yang)研究小组发现,这些男性的精子中平均有33种突变,其中三分之二在血液中检测不到。研究结果于8月份发表在《细胞》杂志上。

深度测序:

含有这些突变的精子部分仍然存在随着时间的推移,每个人的情况都是一样的,只有精子的突变在老年人中并不比年轻人更常见。研究人员说,综合起来,这意味着突变可能发生在胚胎发生过程中。

“通过测量具有[特定的,潜在破坏性的]细胞的百分比。”“突变,我们实际上可以预测有一个患有这种疾病的孩子的几率,”Gleeson说。例如,如果一个男人今天有5%的精子含有突变,那么他通过这种疾病的几率为5%at mutation on to his children today, tomorrow and 10 years from now.

Of the mutations detected only in sperm, an average of 1.6 per sample occur in the coding regions of genes, and 0.3 are predicted to affect a gene’s function, the researchers found.

Such loss-of-function mutations in one copy of a gene appear in the sperm of about 7 out of 100 men, the team estimates. These mutations could account for about 15 percent of cases of autism, congenital heart disease and severe pediatric conditions, they say.

Of note, the study focused only on ‘clonal’ mutations and not the more prevalent but less detectable ‘nonclonal’ ones, which occur in only a single sperm.

“To have a full picture of disease risk for a particular individual’s offspring, you also need to look at the nonclonal variants as well,” says Maria Chahrour, assistant professor of genetics and neuroscience at the University of Texas Southwestern in Dallas, who was not involved in the study.

Gleeson says he and his colleagues hope to explore these variants in the future with larger sample sizes, he says. “There’s a whole other world we haven’t even explored yet, which are these nonclonal mutations.”

Cite this article: https://doi.org/10.53053/NWPS6737

The post Mutations linked to autism may be detectable in men’s sperm appeared first on Spectrum | Autism Research News.

//www.definity-marketing.com/news/mutations-linked-to-autism-may-be-detectable-in-mens-sperm/feed/ 0 数字:机器学习,痴呆链接,怀孕期间服用抗精神病药 //www.definity-marketing.com/news/by-the-numbers-machine-learning-dementia-link-antipsychotics-while-pregnant/ //www.definity-marketing.com/news/by-the-numbers-machine-learning-dementia-link-antipsychotics-while-pregnant/#respond 彼得•赫斯 9月16日星期四11:00:00 +0000 新闻 自闭症 数据可视化 //www.definity-marketing.com/?p=86846

在本期的《按数字》中,我们讨论了自闭症、早发性痴呆和怀孕期间抗精神病药物的机器学习//www.definity-marketing.com/news/by-the-numbers-machine-learning-dementia-link-antipsychotics-while-pregnant/">根据数字:机器学习、痴呆链接、怀孕时服用抗精神病药物在Spectrum |自闭症研究新闻

欢迎收看本月的数字通讯。在Spectrum,我们尽最大努力总结最新的自闭症研究结果——有时最好的总结是以图表或地图的形式出现的。在本新闻稿中,我们总结了通过数据可视化最简洁地传达的有趣的新研究。

让我们知道您对新闻稿的看法,或者告诉我们您自己的数据丰富的工作,网址为niko@spectrumnews.org

机器学习和神经成像

如果https://doi.org/10.1007/s00234-021-02774-z“target=“\u blank”rel=“noopener”>一项对44项研究数据的新分析显示,数据集包括女性。“我们希望改进用于机器学习的数据,因为,你知道,‘垃圾输入,垃圾输出’,”首席调查员说https://www.uclh.nhs.uk/our-services/find-consultant/dr-sotirios-bisdas“target=“\u blank”rel=“noopener”>Sotirios Bisdas是英国伦敦国家神经病学医院的神经放射学家。Bisdas说,这项新研究的目的是“了解是否存在影响数据质量的系统性偏差,以及下游是否可能影响结果。”

研究表明,答案是肯定的:某些类型的神经成像数据,如脑电图,在训练机器学习模型以识别自闭症方面可能比其他类型的数据更好。包括女性和来自多种成像技术的数据也可能提高某些机器学习的敏感性和特异性g算法。

机器学习不太可能在短期内帮助孤独症诊断。孤独症的诊断方式存在很大差异//www.definity-marketing.com/opinion/brains-of-girls-boys-may-mark-distinct-paths-to-autism/“target=“\u blank”rel=“noopener”>出现在男孩和女孩中="//www.definity-marketing.com/news/new-autism-prevalence-stats-spotlight-challenge-early-diagnosis/“target=“\u blank”rel=“noopener”>如何诊断该疾病//www.definity-marketing.com/news/how-autism-scientists-are-tackling-brain-imagings-replication-problem/“target=“\u blank”rel=“noopener”“>执行神经成像,并使用机器学习算法//www.definity-marketing.com/news/how-autism-researchers-are-applying-machine-learning-techniques/“target=“\u blank”rel=“noopener”>从数据中得出结论Bisdas说,为了提高机器学习算法的准确性,研究人员应该首先标准化成像方法。

“如果我们不标准化其收集,等待更多的成像数据是没有意义的,”Bisdas说。“是的,我们需要更多的数据,但我们需要更高质量的数据。”

研究结果发表在8月份的《神经放射学》杂志上。

早发性痴呆和孤独症

大约4%的孤独症成人根据一项新的研究,2008年至2012年间被诊断为早发性痴呆,而非孤独症成年人中这一比例不到1%。孤独症和智力残疾人群的患病率超过5%。

数据来自医疗补助分析摘录包括120多万在30岁至64岁之间接受医疗补助的成年人。数据集中超过12000人患有自闭症,其中511人在65岁之前被诊断为痴呆症。在自闭症患者中,黑人早发性痴呆症的患病率高于白人与城市居民相比,居住在农村地区的人患早发性痴呆的比例也更高。

The findings appeared in Autism Research in August.

Spectrum story spotlight: Prenatal exposure to antipsychotics does not increase autism odds

Children born to women who take antipsychotic medications during pregnancy, such as aripiprazole or risperidone, do not have elevated odds of having autism or attention deficit hyperactivity disorder, nor are they more likely to be born preterm or underweight, according to a study published in JAMA Internal Medicine in August.

Prescribing antipsychotics during pregnancy can help prevent potentially dangerous psychotic episodes and ensure that an expectant mother can take care of herself, says Mady Hornig, associate professor of epidemiology at Columbia University, who was not involved in the study. “We certainly don’t want to be cavalier about the use of any medication during pregnancy, but one also wants to balance out the implications of not treating.”

Any apparent effects of antipsychotics on a developing fetus are likely due to the condition that is being treated, rather than the treatment itself, the study shows. That’s because doctors prescribe medications for a specific reason, which can lead to additional differences between women who do and don’t take medications, and can skew study results. This explains why women who were medicated during pregnancy appear to have an increased hazard ratio for giving birth to children with autism, as shown in the chart above.

The findings appeared in JAMA Internal Medicine in August.

Spectrum index:

27: The number of co-occurring conditions, such as epilepsy and intellectual disability, that affect significantly more women than men with autism. The results appeared in the Journal of the American Medical Informatics Association in August.

336.6 percent: The increase in autistic adults who received supplementary security income awards, a U.S. cash assistance program, in 2019 compared with 2005. The greatest increases were in New Jersey, Delaware and Connecticut, according to a study published in the Journal of Autism and Developmental Disorders in August.

1.35: The increased odds that an autistic person’s cousin will have depression, compared with someone not related to an autistic person. The result, published in the Journal of Child Psychology and Psychiatry in August, drew on data from nearly 2.4 million people in Sweden. Many other conditions, including anxiety, eating and psychotic disorders, were also more common among relatives of people diagnosed with autism.

Dataset spotlight: A new longitudinal dataset of the developing mouse brain, created using resting-state functional connectivity data on the cortex, tracks postnatal development from a batch of animals across time. A preprint describing the data appeared on bioRxiv in April.

Cite this article: https://doi.org/10.53053/QGXY6857

The post By the Numbers: Machine learning, dementia link, antipsychotics while pregnant appeared first on Spectrum | Autism Research News.

//www.definity-marketing.com/news/by-the-numbers-machine-learning-dementia-link-antipsychotics-while-pregnant/feed/ 0
X染色体对大脑发育有额外的影响 https://www.spectumnews.org/news/x-chromosome-exerts-extra-influence-on-brain-development/ //www.definity-marketing.com/news/x-chromosome-exerts-extra-influence-on-brain-development/#respond 雷切尔·赞佐 2021年9月15日星期三11:00:00+0000 新闻 自闭症 脑成像 大脑的大小 常见的变体 皮层 基因表达 格干 磁共振成像 测序 性别 单核苷酸多态性 心理理论 //www.definity-marketing.com/?p=86825 X染色体对一些大脑区域的结构具有比预期更强的遗传影响。造成这种巨大影响的基因可能与自闭症有关。

The post X染色体对大脑发育产生额外的影响首先出现在Spectrum | Autism Research News.

X染色体包含对几个大脑区域结构的影响比预期的更大。导致这种过度影响的X连锁基因可能与孤独症和智力残疾有关。

“已经有迹象表明X染色体可能很明显,它与大脑有多大关系,”首席研究者说="https://www.nimh.nih.gov/research/research-conducted-at-nimh/principal-investigators/armin-raznahan“target=“\u blank”rel=“noopener”“>Armin Raznahan,美国国家心理健康研究所发育神经基因组学科科长。许多X染色体基因——包括一些自闭症相关疾病的根源基因,如脆性X综合征//www.definity-marketing.com/news/rett-syndromes-link-to-autism-explained/“target=“\u blank”rel=“noopener”>Rett综合征在大脑中有表达。

但新发现表明,尽管X染色体只包含人类基因组的5%,但它在塑造大脑方面发挥着特殊作用,这一作用可能与发育条件特别相关。更重要的是,这项研究表明,男性的这种影响可能比女性更大。

“他们所展示的X是根本不同的,”她说https://www.childrenshospital.org/research/researchers/g/david-glahn“target=”哈佛大学心理学教授David Glahn,他没有参与这项新的研究。“这太离谱了。”

过去十年的研究将遗传变异与大脑功能的变化,例如整体大小或区域间的连接模式。但是“X染色体和Y染色体基本上没有得到研究”,因为包括它们需要额外的分析工作,他说。

监督可能很快就会消失,由于强大的数据集编辑成千上万人的基因测序和大脑成像数据。这项新的研究是利用英国生物银行(UK Biobank),该银行保存了近40000人的基因和成像数据。

“查看[基因]的能力”X染色体和对大脑结构的影响直到最近这些庞大的数据集才真正成为可能,”说https://keck.usc.edu/faculty-search/neda-jahanshad/洛杉矶南加州大学神经病学副教授Neda Jahanshad博士他没有参与这项研究。“这是一项非常重要的初步调查。”

X文件

Raznahan和他的同事分析了来自普通人群的32256名成年人的基因数据和磁共振成像扫描,其中大约一半是女性。

研究人员通过脑部扫描确定了厚度,每个参与者皮层358个区域的体积和表面积。他们寻找这些结构特征和参与者遗传密码中的微调之间的联系,然后计算与X染色体相关的皮质特征变异比例。Raznahan和他的团队在7月份的《自然神经科学》杂志上报告了他们的研究结果,研究人员发现,X染色体对包括前额叶皮质、感觉运动皮质和颞顶交界区在内的几个大脑区域的结构的影响比其基因组大小的预期更大。这种模式对于表面积比大脑区域的厚度或体积更为明显。事实上,研究发现,X染色体上的遗传变异解释了几个区域表面积20%以上的变异。

当谈到自闭症时,染色体对颞顶连接的影响特别有趣,Glahn说。该地区的活动//www.definity-marketing.com/news/distinct-folding-in-autism-brain-hints-at-conditions-origins/“target=“\u blank”rel=“noopener”>折叠链接到theory of mind, or the ability to intuit the feelings and thoughts of others. Some autistic people find this skill challenging.

Networks involving attention, decision-making and sensory and motor function overlap significantly with the brain areas most influenced by X chromosome variation, the researchers also found, suggesting that the X chromosome supports adaptive behavior, Raznahan says.

“The structural organization certainly gives an initial insight,” Jahanshad says. But a key next step is to correlate genetic variation on the X chromosome with patterns in functional imaging data and actual behavioral traits. (Raznahan says he plans to do just this in follow-up studies.)

Sex effects:

A separate analysis yielded 20 X-linked genes that are associated with the surface area of the brain regions that show strong X chromosome influences overall. Several of these genes are implicated in intellectual disability, hydrocephalus and autism.

The work complements another UK Biobank study, published in April in the same journal, in which a separate team zeroed in on specific X chromosome genes tied to brain features, such as the integrity of nerve bundles in the brain.

The X chromosome’s sway over brain anatomy was more than twice as large for men than for women, Raznahan’s team also showed. The degree of this heritability difference between men and women correlated with the degree of sex differences in cortical surface area, which tends to be larger in men.

If the X chromosome plays a more significant role in determining some aspects of brain structure in men than in women, as the findings suggest, it may be compensation for men having only one X, whereas women have two.

The results add yet another string of evidence for the oft-contested idea that there are sex differences in the brain. But it’s not clear how the X chromosome might affect these differences or how they tie to actual behavior, Glahn says. “What’s really interesting about this is just asking those sex difference questions.”

Overall, the new work serves as a call to action for researchers to include the X chromosome as they probe the genetic patterning of the brain, Raznahan says. “We’d be delighted if this work in any way contributed to encouraging people to study the X chromosome more.”

Cite this article: https://doi.org/10.53053/QCAF1417

The post X chromosome exerts extra influence on brain development appeared first on Spectrum | Autism Research News.

//www.definity-marketing.com/news/x-chromosome-exerts-extra-influence-on-brain-development/feed/ 0 自闭症研究继续强调基础科学而不是改善干预措施 https://www.spectumnews.org/opinion/viewpoint/autism-research-continues-to-tress-basic-cience-over-improving-interventions/ //www.definity-marketing.com/opinion/viewpoint/autism-research-continues-to-stress-basic-science-over-improving-interventions/#respond 彼得·多林 2021年9月14日星期二11:00:16+0000 观点 自闭症 行为干预 诊断 智力残疾 口语版 治疗 //www.definity-marketing.com/?p=86747

40年来,孤独症研究的优势一直集中在了解孤独症的病因和特征,而不是测试社区环境中的评估或干预措施。

post孤独症研究继续强调基础科学而不是改善干预措施首先出现在Spectrum |自闭症研究新闻

我毕生对科学的迷恋集中在它以实用和有意义的方式改善我们生活的潜力上。我的职业生涯始于一代人以前,当时孤独症研究正在迅速扩大,当时我是一名专注于孤独症的临床和研究心理学家。研究自闭症的特征和原因的基础科学似乎不可避免地会产生我们可以转化为日益有效的干预措施的见解。我希望看到从基础科学逐渐转向系统地针对特定技能、行为和人群的干预研究。

我还希望这种转化研究将开始超越学术中心,进入社区,在那里,研究人员可以展示如何扩大有效的实践范围,以惠及所有患有孤独症的人,包括那些行为和智力残疾同时发生的人,这些人的行为和水平使他们面临被安置在家外的风险。当我自己的女儿患这种疾病接近成年时,我希望看到更多的研究证明有助于提高自闭症成年人生活质量的计划和实践。

不幸的是,这种转变没有发生。根据我自己的研究,孤独症研究的优势仍然集中在基础科学而不是应用科学上https://doi.org/10.1002/aur.1423“target=“\u blank”rel=“noopener”>其他人的研究。在过去的十年中,我花了很多时间试图理解为什么研究的弧线没有进一步转向影响。

自闭症研究弧线:

要深入研究这个问题,我《自闭症与发育障碍杂志》(《自闭症与发育障碍杂志》)上发表的审查论文,重点关注1979年、1989年、1999年、2009年和2019年。我的分析发表在《纪念自闭症四十年》杂志5月份的一期特刊上//www.definity-marketing.com/news/evolution-autism-diagnosis-explained/“target=“\u blank”rel=“noopener”>在精神障碍诊断统计手册,美国使用的诊断手册JADD是唯一跨越这段历史的以自闭症为中心的杂志。

我对五个选定年份的所有内容进行了回顾,得出了616篇描述原始实证研究的文章(与评论文章、案例研究、信件和评论相反)。90%是在我调查的过去两年中发表的,证实了我们许多人都目睹过的研究爆炸。事实上,2019年发表的文章比之前四个时间点的总和还要多,这可能反映了2006年通过《孤独症防治法》后美国研究基金的增加。

我将616项研究中的每一项都归类为基础研究或应用研究。根据我的定义,基础研究探索了自闭症的特征、相关特征、一般轨迹和可能的原因。应用研究包括直接测试临床人群的评估或干预实践的研究,以及解决可能影响这些实践的因素的研究,如获得服务的差异。

我没有发现随着时间推移向应用研究转变的证据。专注于基础研究的出版物比例保持在58%到60%之间,但1989年上升到80%。尽管一些类型的应用研究——如治疗实践调查和基于网络的工具和支持研究——多年来有所增加,但干预研究从前两个时期的24%到31%下降到后两个时期的12%。此外,大多数干预研究仍在专业大学或医院进行。只有6%是在社区环境中进行的,这一比例在研究期间没有增加。

更令人失望的趋势之一是缺乏对可能帮助残疾程度最高的个人的干预措施的研究。包括严重自闭症儿童的治疗研究比例从1991年到2013年有所下降,根据a2018年文献回顾。这表明,研究的弧线偏离了那些可能获得最多利益的人。

研究路线图:

尽管缺乏涉及社区的应用研究,但这一轨迹仍有部分路线图。两种流行工具s for autism screening and diagnosis — the Modified Checklist for Autism in Toddlers and the Autism Diagnostic Observation Schedule — grew out of basic research more than 30 years ago. They have since been widely adopted in applied research and may contribute to the early identification of autism that so many say is critical to improving outcomes. The missing piece is determining just how much these instruments have affected community practice, such as access to early intervention.

There is an obvious reason why applied research in general and community-based intervention research in particular remains stunted. Such studies are simply harder and costlier to do. The latter requires that researchers build partnerships with community agencies. This takes time, and it slows the pace of publications that new researchers need to launch a career in an increasingly competitive world.

Additional investigations will be needed to better understand trends in autism research. My study simply counted the number of studies in one scientific journal. Would the findings be the same for other journals focused on autism? Are there other ways to characterize the relative emphasis of basic versus applied research in either research publications or funding? And, of course, it is possible that in another decade or so we will see the arc begin to bend. We may simply need more time for basic research to pave the way not merely for more basic research but for better education programs, treatments and outcomes.

Peter Doehring is an independent autism researcher and consultant based in Chadds Ford, Pennsylvania.

Cite this article: https://doi.org/10.53053/KKFR6463

The post Autism research continues to stress basic science over improving interventions appeared first on Spectrum | Autism Research News.

//www.definity-marketing.com/opinion/viewpoint/autism-research-continues-to-stress-basic-science-over-improving-interventions/feed/ 0 在板凳之外:与伊森·斯科特的对话 //www.definity-marketing.com/opinion/beyond-the-bench-a-conversation-with-ethan-scott/ //www.definity-marketing.com/opinion/beyond-the-bench-a-conversation-with-ethan-scott/#respond 迪莉娅·奥哈拉 2021年9月13日星期一11:00:39+0000 意见 常见问题 自闭症 脑成像 磁共振成像 神经回路 神经网络 光遗传学 感觉知觉 技术 斑马鱼 //www.definity-marketing.com/?p=86771 伊森·斯科特让数学、物理和计算机科学专家在他的实验室里对斑马鱼自闭症模型的感觉大脑网络进行解码。< / p > < p >的<一个rel =“nofollow”href = " //www.definity-marketing.com/opinion/beyond-the-bench-a-conversation-with-ethan-scott/ " >在板凳上:跟伊桑斯科特< / >第一次出现在< rel =“nofollow”href = " //www.definity-marketing.com " >谱|自闭症研究新闻< / >。< / p >

澳大利亚布里斯班昆士兰大脑研究所伊桑·斯科特实验室的科学家来自十几个不同的国家,包括北马其顿、塔希提岛和塞舌尔群岛。他们的专业同样多样化,涵盖遗传学、数学、计算机科学和光学物理等领域。该团队共同构建了斯科特所称的“专业知识网络”,以了解自闭症患者经常遇到的那种感觉问题。

“我们在吸引的人中真的很幸运,”他说https://qbi.uq.edu.au/profile/637/ethan-scott“target=“\u blank”rel=“noopener”>斯科特,昆士兰大学神经科学副教授。斯科特本人就是一个移植者:他在特拉华州的纽瓦克长大。

斯科特工作的重点是斑马鱼,一种原产于南亚的透明热带鱼,它的大脑可以被观察到的活动程度是任何其他脊椎动物都无法观察到的——也就是说,使用正确的工具。他的团队使用斑马鱼孤独症模型来研究孤独症患者的感觉脑回路可能存在的差异。为了探索斑马鱼的神经秘密,斯科特愿意涉足物理学和数学等不熟悉的学科。他说:“我对获得新奇的结果感到非常兴奋,这通常需要采用新的方法。”斯科特说,他还致力于社会多样性和公平,特别是在性别方面,并与他的大学合作制定更公平的招聘做法。他向Spectrum讲述了他的女权主义者母亲,他在冬天玩棒球,还有一个让静止的斑马鱼“思考”的把戏它们在旋转。

光谱什么大问题推动了你的研究?

伊桑·斯科特:这是一个问题:动物如何感知和响应周围的世界?

现在是有趣的部分,这里是“大问题”分裂成一堆更小的:如何整合来自不同感官的信息?对重复刺激的反应过程是如何变化的?最近的经验或环境如何影响感官处理?精神障碍患者的感觉网络是如何改变的?

S:你是如何回答这些问题的?

ES:研究感觉网络的挑战之一一直是全脑功能成像-功能磁共振成像,例如,它不能分辨单个神经元,而像电生理学这样的有针对性的方法不能看到整个大脑。这两种方法都没有揭示神经元的感觉网络——庞大、多样和分布的神经元群体。

斑马鱼是唯一一种可以对单个细胞进行全脑成像的脊椎动物模型。它们的幼虫也很小,透明,在露天生长。我们有一个系统,在这个系统中,我们可以看到整个大脑以细胞分辨率运行,一次可以看到数万个神经元。

S:那是什么系统?

我们检测到活动神经元内自然释放的钙。我们通过在斑马鱼整个大脑的神经元中表达荧光钙结合蛋白来做到这一点。细胞中钙水平越高,我们看到的荧光就越多,这就是我们如何知道在任何特定时间哪些神经元是活跃的。我们使用一种称为光片显微镜的东西来检测荧光信号。

我们定制的光片显微镜提供了一层薄薄的聚焦光,一次照亮动物大脑中的一个平面。如果我们快速移动光片和焦平面,我们可以在短时间内收集不同深度的图像。这揭示了整个大脑中数万个神经元的活动,每秒取样两次。

我们跟踪斑马鱼对感觉刺激的检测和反应。然后,我们使用各种数学方法,对信息如何在系统中流动以及这种信息流在孤独症遗传模型中的变化进行建模。

Instrumental work: Ethan Scott makes adjustments to one of his lab’s custom light-sheet microscopes.

S: This work requires a lot of different kinds of specialized expertise. How did you gather that?

ES: I’ve been very lucky to have great people in my lab who have brought expertise from other fields. For example, Itia Favre-Bulle, a postdoctoral researcher in my lab, is an optical physicist by training. She built our light-sheet microscopes and sculpted light into custom holograms to perform optogenetics — a way to artificially stimulate particular sets of neurons with light — inside the intact zebrafish brain. For her, these were just parts of the physics tool kit, but for us neuroscientists, it was wizardry.

Her coolest trick was to use ‘optical tweezers’  — focused light beams that apply force to the objects they target — on the ear stones of zebrafish larvae to trick the larvae into thinking that they are spinning even when they are stationary. Because the larvae were still, we could put them under our light-sheet microscope and describe the brain-wide vestibular network, which would have been impossible if we had actually been spinning the animal. It was a creative and technical tour de force on her part, and it was a lot of fun to be part of.

S: How does your work help people with autism?

ES: Many people on the spectrum have atypical sensory processing — auditory hypersensitivity, for example, or issues combining information from two senses. We study sensory networks and the ways that the brains of animal models of autism process sensory stimuli differently from control animals.

In 2020, for example, we reported changes in auditory brain networks that seem to underlie auditory hypersensitivity in a zebrafish model of fragile X syndrome. This hints at a potential mechanism for such hypersensitivity in fragile X and autism.

S: How has the pandemic affected your work?

ES: It’s changed my approach to managing a lab. I always try to keep an eye on my people’s well-being, but during COVID-19, it’s been my whole job. I have a lot of international lab members who have been separated from their partners or families, and others who are supposed to join us but are stuck overseas. Our sense of community and mutual support has been essential to staying afloat. It’s reinforced my view that a lab has to be a positive community first and a scientific team after that.

S: You are active around the issues of equity and diversity. What do you do, and why?

ES: I’ve worked across my university and with the Australasian Neuroscience Society on equity and diversity issues, especially focusing on gender equity. My particular niche has been in job searches, interviews and hiring, which are rife with practices designed by and for white guys.

My mother is a retired professor and a powerful feminist, and I think I just grew up expecting women to be successful and in positions of leadership. Growing up in this setting was good for my image of women but may have left me naive to how deep and pervasive society’s inequities are. Starting my own lab and mentoring women — and working alongside female colleagues who have struggled with institutional biases — has made it clear to me how far we have to go, both institutionally and culturally. Raising two boys has also been eye-opening in terms of the gendered pressures and expectations that society applies to kids.

S: You grew up in the United States, so how did you end up in Australia?

ES: My postdoc was in San Francisco, California, and my partner’s was in Santa Barbara, California, and this arrangement got pretty old after a couple of years. She got a great offer as a lab head here, and they came up with a lab head position for me, too. With two tenure-track offers from a good university in a nice place, the Pacific Ocean seemed like a pretty small obstacle.

S: What does a typical day look like for you?

ES: Generally, I walk my boys, ages 8 and 11, to school and ride my bike to work from there. When I’m not teaching or in meetings, I am either hiding in my office writing grants or manuscripts, or I’m poking around the lab talking to the team. Like a lot of scientists, I live for the moment when new data have dropped and we can make our first tentative interpretations, so I’m poring through fresh data with my lab members whenever possible.

About once a week, I work from home, and that’s good if I want to focus on something without interruption. My dog loves the company, too. The evening brings cooking, dinner with the family and bedtime stories for the boys.

S: What do you listen to while you work?

ES: If I’m doing anything that requires focus, I can’t handle music with lyrics or a big dynamic range, so maybe just some early choral music or solo piano, or more often, just quiet. If work is light and the timing is right, I’ll stream the radio broadcast of a San Francisco Giants game. They’re on in the middle of the day during the winter in Australia, which is pretty weird, but I’ve gotten used to it. 

S: What do you do for fun?

ES: Fun usually means finding ways to unwind as a family. We’ve taken up archery, and we go once or twice a week together to shoot. I’ve also enjoyed woodworking as a hobby ever since I took night classes in woodworking at San Francisco City College as a postdoc. The boys are reaching an age where I can bring them in on furniture-making projects, and that’s great quality time.

Beyond that, we get outside whenever we can. We love to take the whole crew walking on the beach or hiking in the rainforest. We’re three-season campers, but not in the way that North Americans would expect; it’s beautiful in the winter here, but too hot in the summer.

S: How many unread emails are in your inbox right now?

ES: Zero! Unread emails make me anxious.

Scientist Ethan Scott in wood shop with his young son.

Quality time: Scott collaborates with his son on a woodworking project.

Cite this article: https://doi.org/10.53053/WYTQ6197

The post Beyond the Bench: A conversation with Ethan Scott appeared first on Spectrum | Autism Research News.

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社区通讯:“自闭症之声”与发展中的皮质 //www.definity-marketing.com/news/community-newsletter-autism-voices-and-the-developing-cortex/ //www.definity-marketing.com/news/community-newsletter-autism-voices-and-the-developing-cortex/#respond 切尔西B.库姆斯酒店 9月1日星期日 新闻 自闭症 社区 //www.definity-marketing.com/?p=86809

本周’;s社区时事通讯,我们看到了一种新的工具,用于采访有语言或智力挑战的年轻自闭症患者,以及对绘制自闭症突变图的新资源的反应。

post社区通讯:“孤独症之声”和发育中的大脑皮层首先出现在Spectrum |自闭症研究新闻

Hello, and welcome to this week’s Community Newsletter! I’m your host, Chelsey B. Coombs, Spectrum’s engagement editor.

A flurry of tweets this week touted a new Autism study from researchers at McGill University in Montreal, Canada.

The researchers piloted a new protocol, called “Autism Voices,” for collecting the first-person perspectives of young autistic people. The method involves surveying parents or caregivers to develop a semi-structured interview tailored to an autistic person’s communication preferences and needs. The researchers used picture cards, for example, and participants could answer by writing, texting with emojis, drawing, pointing, speaking or using augmentative or alternative communication devices.

Autistic participants had the most positive experiences with the most flexible interviewers, who might ask an unanswered question in a different way before moving to the next one. And participants who were minimally verbal or intellectually disabled were able to offer their own perspectives so long as their needs were taken into account, the study found.

“This methodology and approach to engagement will ultimately lead to the empowerment of the autistic community and will promote their self-determination by including them as active stakeholders in research that affects them,” the researchers wrote.

Michelle Dawson, an autism researcher at Hôpital Rivière-des-Prairies in Montreal, Canada, quoted the study directly.

The Olga Tennison Autism Research Centre at La Trobe University in Melbourne, Australia, tweeted that it is important such work continues.

Elsewhere on Twitter, researchers raved about a new resource published in Cell that combines chromatin and transcriptional profiles in the developing human cerebral cortex.

PlumX Metrics shows the paper’s social media splash.

Investigator Sergiu P. Pasca, associate professor of psychiatry and behavioral sciences at Stanford University in California, thanked his collaborators on the research, which he described as an “effort to understand the logic of lineage progression & map #autism mutations.”

Ashley Watson, senior scientist at STEMCELL Technologies, called it an “incredible resource.”

And Yang Luo, instructor of medicine at Harvard University, commented on the “many cool methods to dive into.”

 

If you missed our 31 August webinar with Laurent Mottron, professor of psychiatry at the University of Montreal in Canada, you can now watch it on our site.

And don’t forget to register for our 28 September webinar, featuring Jeremy Veenstra-VanderWeele, professor of psychiatry at Columbia University, who will speak about goals for developing new drugs for autism — and the barriers researchers may encounter.

That’s it for this week’s Spectrum Community Newsletter! If you have any suggestions for interesting social posts you saw in the autism research sphere, feel free to send an email to me at chelsey@spectrumnews.org. See you next week!

Cite this article: https://doi.org/10.53053/DUZE8641

The post Community Newsletter: “Autism Voices” and the developing cortex appeared first on Spectrum | Autism Research News.

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