Autism is a tremendously heterogeneous disorder with complex genetic and neural underpinnings. This grant aims to understand variability in the autism phenotype by examining links between known genetic risk factors for autism and brain structure and function. We will recruit 80 children with autism and 40 controls who will undergo a comprehensive phenotyping assessment, high field structural MRI, and functional MRI using three tasks that differentiate typically developing children from those with autism, and which tap into core deficits seen in ASD. Our study will focus on five autism risk polymorphisms and one known genetic syndrome, 22q11deletiion with the goal of identifying structural and functional brain abnormalities that are linked to autism risk polymorphisms, and in turn to link these neural anomalies to variations in the autism phenotype. We hope to develop profiles of imaging phenotypes in autism that will help identify valid autism subtypes based on brain structure and function, and link these phenotypes to their genetic origins, thereby moving towards a more crystallized conceptualization of ASD.

Public Health Relevance

This grant aims to examine the effects of 5 replicated autism risk genes on brain structure and function, using functional and structural MRI. The goal is to try to understand the neural basis of behavioral variations in autism by drawing connections from genes to brain to behavior. We will examine 5 autism risk genes and one known genetic syndrome, 22q11deltion, where there are high rates of autism, and identify brain regions and systems associated with these genes, relating them to variations in the autism phenotype.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Research Project (R01)
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Study Section
Special Emphasis Panel (ZMH1-ERB-S (A1))
Program Officer
Kau, Alice S
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University of California Los Angeles
Schools of Medicine
Los Angeles
United States
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Green, Shulamite A; Hernandez, Leanna M; Bowman, Hilary C et al. (2018) Sensory over-responsivity and social cognition in ASD: Effects of aversive sensory stimuli and attentional modulation on neural responses to social cues. Dev Cogn Neurosci 29:127-139
Di Martino, Adriana; O'Connor, David; Chen, Bosi et al. (2017) Enhancing studies of the connectome in autism using the autism brain imaging data exchange II. Sci Data 4:170010
Green, Shulamite A; Hernandez, Leanna; Bookheimer, Susan Y et al. (2017) Reduced modulation of thalamocortical connectivity during exposure to sensory stimuli in ASD. Autism Res 10:801-809
Green, Shulamite A; Hernandez, Leanna; Bookheimer, Susan Y et al. (2016) Salience Network Connectivity in Autism Is Related to Brain and Behavioral Markers of Sensory Overresponsivity. J Am Acad Child Adolesc Psychiatry 55:618-626.e1
Green, Shulamite A; Hernandez, Leanna; Tottenham, Nim et al. (2015) Neurobiology of Sensory Overresponsivity in Youth With Autism Spectrum Disorders. JAMA Psychiatry 72:778-86
Brenner, Laurie A; Shih, Vivian H; Colich, Natalie L et al. (2015) Time reproduction performance is associated with age and working memory in high-functioning youth with autism spectrum disorder. Autism Res 8:29-37
Vorstman, Jacob A S; Breetvelt, Elemi J; Duijff, Sasja N et al. (2015) Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry 72:377-85
Jonas, Rachel K; Montojo, Caroline A; Bearden, Carrie E (2014) The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biol Psychiatry 75:351-60
Di Martino, A; Yan, C-G; Li, Q et al. (2014) The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism. Mol Psychiatry 19:659-67
Alaerts, Kaat; Woolley, Daniel G; Steyaert, Jean et al. (2014) Underconnectivity of the superior temporal sulcus predicts emotion recognition deficits in autism. Soc Cogn Affect Neurosci 9:1589-600

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