From molecular pathways to ASD therapy: Insights from syndromic forms of autism

Autism spectrum disorders (ASD) are highly heritable, yet genetically and clinically very heterogeneous. Currently, ASD treatment relies heavily on early behavioural intervention, which is partially effective but not curative, and specific pharmacological therapy for ASD is not yet available. Syndromic forms of ASD are genetic syndromes with a high incidence of autistic symptoms, which offer a unique opportunity for understanding the neurobiological mechanisms of ASD. Here we discuss the current progress in characterizing the molecular and neurobiological mechanisms underlying fragile X syndrome, Rett syndrome and tuberous sclerosis, as well as novel therapies developed for these syndromic forms of ASD. We further review recent evidence for common mechanisms underpinning syndromic and idiopathic ASD, and discuss the possibility of employing pharmacological agents developed for syndromic ASD to effectively treat idiopathic ASD.