Publications by authors named "Lais F M Cardozo"
Article Synopsis
- * A genetic diagnosis of TSC aids in confirming the clinical diagnosis and helps in managing care and monitoring patients.
- * In a study of 116 individuals, 91% had pathogenic DNA alterations in TSC-related genes, with detailed functional assessments revealing novel variants impacting TSC protein activity.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.
Objective: To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.
Methods: A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.
Background: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria.
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