神经质的
自闭症谱系障碍
心理学
自闭症
神经解剖学
脑形态计量学
适应性行为
大脑大小
神经科学
发展心理学
拷贝数变化
神经影像学
适应行为量表
神经可塑性
临床心理学
生物
医学
磁共振成像
遗传学
基因
放射科
基因组
作者
Charlotte M. Pretzsch,Tim Schäfer,Michael V. Lombardo,Varun Warrier,Caroline Mann,Anke Bletsch,Chris Chatham,Dorothea L. Floris,Julian Tillmann,Afsheen Yousaf,Emily J.H. Jones,Tony Charman,Sara Ambrosino,Thomas Bourgeron,Guillaume Dumas,Eva Loth,Bethany Oakley,Jan K. Buitelaar,Freddy Cliquet,Claire S. Leblond,Simon Baron‐Cohen,Christian F. Beckmann,Tobias Banaschewski,Sarah Durston,Christine M. Freitag,Declan Murphy,Christine Ecker
标识
DOI:10.1176/appi.ajp.21070711
摘要
Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition that is associated with significant difficulties in adaptive behavior and variation in clinical outcomes across the life span. Some individuals with ASD improve, whereas others may not change significantly, or regress. Hence, the development of "personalized medicine" approaches is essential. However, this requires an understanding of the biological processes underpinning differences in clinical outcome, at both the individual and subgroup levels, across the lifespan.The authors conducted a longitudinal follow-up study of 483 individuals (204 with ASD and 279 neurotypical individuals, ages 6-30 years), with assessment time points separated by ∼12-24 months. Data collected included behavioral data (Vineland Adaptive Behavior Scale-II), neuroanatomical data (structural MRI), and genetic data (DNA). Individuals with ASD were grouped into clinically meaningful "increasers," "no-changers," and "decreasers" in adaptive behavior. First, the authors compared neuroanatomy between outcome groups. Next, they examined whether deviations from the neurotypical neuroanatomical profile were associated with outcome at the individual level. Finally, they explored the observed neuroanatomical differences' potential genetic underpinnings.Outcome groups differed in neuroanatomical features (cortical volume and thickness, surface area), including in "social brain" regions previously implicated in ASD. Also, deviations of neuroanatomical features from the neurotypical profile predicted outcome at the individual level. Moreover, neuroanatomical differences were associated with genetic processes relevant to neuroanatomical phenotypes (e.g., synaptic development).This study demonstrates, for the first time, that variation in clinical (adaptive) outcome is associated with both group- and individual-level variation in anatomy of brain regions enriched for genes relevant to ASD. This may facilitate the move toward better targeted/precision medicine approaches.