Abstract
Autism spectrum disorders (ASDs) are highly inheritable neurodevelopmental syndromes diagnosed primarily by three core behavioral phenotypes: impaired social interaction, atypical communication, and restricted interests and repetitive behaviors. The biggest advancement in our understanding of ASDs has come from genetic linkage studies and identification of copy number variations (CNVs) which increase the probability of developing an ASD. Mouse models have been genetically engineered based on these known genetic mutations and are tested for the presence of the core ASD-related behaviors. These models are valuable for elucidating the underlying neurobiology of ASDs from the signaling pathway to the neuronal circuit level, allowing for the development of potential therapeutic interventions. This chapter discusses the most promising mouse models in parallel with correlated ASD studies in humans.
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Martins, G.J. (2017). Neurobiology of Autism Spectrum Disorders. In: Barahona Corrêa, B., van der Gaag, RJ. (eds) Autism Spectrum Disorders in Adults. Springer, Cham. https://doi.org/10.1007/978-3-319-42713-3_2
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