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Autism spectrum disorder (ASD) is defined by impaired social interaction and communication accompanied by stereotyped behaviors and restricted interests. Although ASD is common, its genetic and clinical features are highly heterogeneous. A number of recent breakthroughs have dramatically advanced our understanding of ASD from the standpoint of human genetics and neuropathology. These studies highlight the period of fetal development and the processes of chromatin structure, synaptic function, and neuron-glial signaling. The initial efforts to systematically integrate findings of multiple levels of genomic data and studies of mouse models have yielded new clues regarding ASD pathophysiology. This early work points to an emerging convergence of disease mechanisms in this complex and etiologically heterogeneous disorder.

Original publication

DOI

10.1146/annurev-pathol-012414-040405

Type

Journal article

Journal

Annu Rev Pathol

Publication Date

2015

Volume

10

Pages

111 - 144

Keywords

human genetics, molecular pathology, mouse models, neuropathology, systems biology, Animals, Child Development Disorders, Pervasive, Disease Models, Animal, Humans, Mice