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.
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