Abstract
Tuberous Sclerosis Complex (TSC) is now recognized as one of the medical conditions most commonly associated with autism. Between 1–5% of those with autism have TSC and up to 50% of people with TSC meet criteria for an autism spectrum disorder. The clinical characteristics of autism in TSC are qualitatively indistinguishable from those of idiopathic autism. So, what can TSC teach us about autism? We will present an overview of the neuropsychiatric features of TSC and will proceed with an examination of aetiological models of autism in TSC. Structural models (suggesting that autism is caused by brain lesions in specific neuroanatomical locations) and seizure models (suggesting that the age, type and control of seizures may predict autism) have both received some support, but with limited replication. More recently, molecular approaches have suggested that dysregulation of intracellular signalling through the TSC1/2‐mTOR pathway may be sufficient to lead to socialization deficits and autism, and that drugs that act as mTOR inhibitors may reverse some aspects of the learning and social deficits in TSC.
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