An updated review on tuberous sclerosis complex associated autism spectrum disorder

Tuberous sclerosis complex (TSC) is an autosomal dominant, neurocutaneous disorder due to mutations of either the TSC1 (located on the chromosome 9q34 and encodes for hamartin) or TSC2 (located in the chromosome 16p13.3 and encodes for tuberin) gene. Besides multiorgan and system dysfunction from tubers, various neuropsychiatric features, including autism, are extremely common and debilitating features of TSC. Despite the high prevalence of autism in TSC, in only the last ten years significant progress has been made to prospectively calculate the prevalence of autism in TSC population, to identify early clinical and neurophysiological biomarkers to predict autism, and to investigate different therapies to prevent autism in this high-risk population.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research