Animal Models of Autism

Abstract

Autism is a developmental disorder characterized by impaired social interaction and communication, in addition to a restricted range of interests and activities. Although this syndrome may seem specific to humans, the very few genes known to be associated with autism are also present in other species. Therefore, studies of animals bearing mutations in these genes may give crucial information for the understanding of the biological pathways involved in the development of autism in humans. These animal models of autism may also shed light on the complex development of higher cognitive functions during evolution (i.e., language or theory of mind). Because of the multifaceted behavior and cognitive profiles present in individuals with autism, there is a need for adequate behavioral paradigms and biological studies to investigate the role of specific genes in different aspects of the autism spectrum. This chapter, focusing mainly on findings reported in humans and in mice, is divided into three parts. The first part summarizes the current findings obtained from studies of animals harboring mutations associated with autism spectrum disorders. The second part proposes behavioral tests as paradigms for diagnostic items for autism. Finally, the third part discusses how associated clinical or biological findings observed in individuals with autism could be manifested in animal models. This chapter should not be considered as a strict guideline, but rather as a framework to study the present and future animal models of autism and related disorders.Key WordsAutismmicebehavioral paradigmsanimal modelsfragile XRett syndromeTuberous sclerosisneurofibromatosisepilepsysynaptogenesis