Overview of genetic models of autism spectrum disorders

Jheel Patel, Jodi L. Lukkes, Anantha Shekhar

Research output: Chapter in Book/Report/Conference proceedingChapter

5 Scopus citations


Autism spectrum disorders (ASDs) are a group of neurodevelopment disorders that are characterized by heterogenous cognitive deficits and genetic factors. As more ASD risk genes are identified, genetic animal models have been developed to parse out the underlying neurobiological mechanisms of ASD. In this review, we discuss a subset of genetic models of ASD, focusing on those that have been widely studied and strongly linked to ASD. We focus our discussion of these models in the context of the theories and potential mechanisms of ASD, including disruptions in cell growth and proliferation, spine dynamics, synaptic transmission, excitation/inhibition balance, intracellular signaling, neuroinflammation, and behavior. In addition to ASD pathophysiology, we examine the limitations and challenges that genetic models pose for the study of ASD biology. We end with a review of innovative techniques and concepts of ASD pathology that can be further applied to and studied using genetic ASD models.

Original languageEnglish (US)
Title of host publicationProgress in Brain Research
PublisherElsevier B.V.
Number of pages36
StatePublished - 2018

Publication series

NameProgress in Brain Research
ISSN (Print)0079-6123
ISSN (Electronic)1875-7855


  • Autism
  • Genetic models
  • Neurodevelopment
  • Translational models

ASJC Scopus subject areas

  • Neuroscience(all)

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    Patel, J., Lukkes, J. L., & Shekhar, A. (2018). Overview of genetic models of autism spectrum disorders. In Progress in Brain Research (pp. 1-36). (Progress in Brain Research; Vol. 241). Elsevier B.V.. https://doi.org/10.1016/bs.pbr.2018.10.002