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Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations
Tanjala T Gipson1, Andrea Poretti2, Emily A Thomas3
1Tuberous Sclerosis Center of Excellence, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA The Clinical Trials Unit, Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA Gipson@kennedykrieger.org.
Abstract:
Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span.
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