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Dr. Elizabeth A. Thiele

Elizabeth A. Thiele, MD, PhD

Dr. Elizabeth Thiele: In addition to epilepsy, one of the other major neurologic aspects of the disorder for many individuals is cognitive impairment. And we know that 50 percent of individuals with TSC will have some degree of cognitive impairment. We also know that TSC is one of the leading single causes of autism. And that's been characterized in TSC since the early thirties. What we don't know yet is how often and prevalent autism is. Unfortunately, a lot of the research done on autism and TSC has been done by questionnaire based surveys, which is not as good a way of gaining data. And estimates would say that anywhere from 50 to 60 percent of children with TSC will have autism. We think it's probably closer to 15 to 25 percent. And we're still trying to figure out what the relationship is in children who have autistic features, or autism spectrum disorders and TSC, what the relationship of those behaviors are, difficulties are, to both the child's history of epilepsy, as well as what the brain looks like. Where are the tubers? How many tubers are there? Autism is a huge problem. And we also think that if we can gain a better understanding of autism in TSC, it might lead us to a better understanding of autism in the general population.