Abstract
Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population.
Highlights
Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population
TSC symptoms which led to diagnosis were hypomelanotic macules (94%), tubers and other cortical dysplasias (94%), subpendymal nodules (SENs) (90%), and cardiac rhabdomyomas (82%)
Of the 109 children that underwent genetic testing, pathogenic variants were found in TSC1 (14%) and TSC2 (72%), and 11% had no mutation identified (NMI)
Summary
Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population. Common initial presenting symptoms were cardiac rhabdomyomas (59%) and hypomelanotic macules (39%), and 85% of the children had either or both. TSC symptoms which led to diagnosis were hypomelanotic macules (94%), tubers and other cortical dysplasias (94%), subpendymal nodules (SENs) (90%), and cardiac rhabdomyomas (82%).
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