As with most manifestations of tuberous sclerosis complex (TSC), there is a wide variety of presentation and autism spectrum disorder (ASD) in those with TSC is no different. ASD manifestations are unique to the individual and present equally across age, gender and intellectual development level. Recent studies show that ASD has a 41-69% prevalence in the TSC community and roughly 40-50% have a confirmed clinical diagnosis of autism. Whereas the rate of ASD in the general population is around 2% in the global population. Manifestations of ASD include social communications and language difficulties, and the presence of repetitive and restricted behaviors.
These difficulties are often identified or diagnosed late, and many children and families miss opportunities to access some of the growing number of evidence-based interventions and support programs developed specifically for autism. Similarly, adults with TSC who have social-communication difficulties or autism rarely receive interventional support.
The consensus panel recommends the following: