A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder

心理学 自闭症 自闭症谱系障碍 神经科学 神经影像学 临床心理学 精神科 发展心理学
作者
Veronica Rose,Courtney P. Gilchrist,Simonne E. Collins,Katrina Williams,Marc L. Seal,Richard J. Leventer,David J. Amor
出处
期刊:Journal of Child Psychology and Psychiatry [Wiley]
卷期号:62 (11): 1339-1352 被引量:11
标识
DOI:10.1111/jcpp.13510
摘要

Background Research on monogenic forms of autism spectrum disorder (autism) can inform our understanding of genetic contributions to the autism phenotype; yet, there is much to be learned about the pathways from gene to brain structure to behavior. This systematic review summarizes and evaluates research on brain magnetic resonance imaging (MRI) findings in monogenic conditions that have strong association with autism. This will improve understanding of the impact of genetic variability on brain structure and related behavioral traits in autism. Methods The search strategy for this systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines. Risk of bias (ROB) assessment was completed on included studies using the Newcastle‐Ottawa Scales. Results Of 4,287 studies screened, 69 were included pertaining to 13 of the top 20 genes with the strongest association with autism. The greatest number of studies related to individuals with PTEN variants and autism. Brain MRI abnormalities were reported for 12 of the 13 genes studied, and in 51.7% of participants across all 13 genes, including 100% of participants with ARID1B variants. Specific MRI findings were highly variable, with no clear patterns emerging within or between the 13 genes, although white matter abnormalities were the most common. Few studies reported specific details about methods for acquisition and processing of brain MRI, and descriptors for brain abnormalities were variable. ROB assessment indicated high ROB for all studies, largely due to small sample sizes and lack of comparison groups. Conclusions Brain abnormalities are common in this population of individuals, in particular, children; however, a range of different brain abnormalities were reported within and between genes. Directions for future neuroimaging research in monogenic autism are suggested.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
sl发布了新的文献求助10
1秒前
1秒前
sanqian911完成签到,获得积分10
2秒前
昏睡的蟠桃应助liars采纳,获得150
3秒前
斯文败类应助荒野风采纳,获得10
3秒前
3秒前
hrzmlily完成签到,获得积分10
5秒前
顽主完成签到,获得积分10
6秒前
义气访曼完成签到 ,获得积分10
7秒前
时尚战斗机完成签到,获得积分10
7秒前
9秒前
亦玉完成签到,获得积分10
9秒前
Philadelphus完成签到,获得积分20
11秒前
11秒前
wsh完成签到 ,获得积分10
12秒前
luyue9406完成签到,获得积分10
12秒前
luochen完成签到,获得积分10
12秒前
酷波er应助奶黄包采纳,获得10
13秒前
ROMANTIC完成签到 ,获得积分10
13秒前
Hancock完成签到 ,获得积分10
14秒前
luyue9406发布了新的文献求助10
15秒前
Akim应助小王采纳,获得10
15秒前
甜蜜的楷瑞应助zqfxc采纳,获得10
17秒前
Hello应助花雨落123采纳,获得10
19秒前
20秒前
21秒前
柚仝完成签到 ,获得积分10
21秒前
贾明灵完成签到,获得积分10
21秒前
未来学术司马懿应助LIUYONG采纳,获得10
22秒前
Dops完成签到,获得积分10
24秒前
票子发布了新的文献求助10
25秒前
晚风完成签到 ,获得积分10
25秒前
坚强莺发布了新的文献求助10
25秒前
无奈曼云完成签到,获得积分10
26秒前
不会吹口哨完成签到,获得积分10
26秒前
易槐完成签到,获得积分10
27秒前
情怀应助和谐的梦蕊采纳,获得10
27秒前
28秒前
喜悦的飞机完成签到,获得积分10
29秒前
29秒前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
Research on Disturbance Rejection Control Algorithm for Aerial Operation Robots 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4038426
求助须知:如何正确求助?哪些是违规求助? 3576119
关于积分的说明 11374556
捐赠科研通 3305834
什么是DOI,文献DOI怎么找? 1819339
邀请新用户注册赠送积分活动 892678
科研通“疑难数据库(出版商)”最低求助积分说明 815029