Resumo

BERNAL BOTERO, Luisa Fernanda; ARIAS-RAMIREZ, Yaira Zuleine  e  PINEDA GRACIANO, Cesar Mauricio. Tuberous Sclerosis Complex: neuropsychological profile and intervention proposal. Rev. Investig. Innov. Cienc. Salud [online]. 2020, vol.2, n.1, pp.98-115.  Epub 30-Jul-2021. ISSN 2665-2056.  https://doi.org/10.46634/riics.46.

Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited genetic disorder caused by mutation in one of the TSC1 or TSC2 genes. Patients with severe neurological-type CET involvement may have epilepsy, intellectual disability, specific learning problems, and behavioral disorders. For this reason, the neuropsychological evaluation in individuals with this pathology becomes an important character by providing information on the cognitive deficits that underlie brain involvement that alter intellectual functioning and adaptive aspects. The current work presents the cognitive profile of a female adult patient with a history of TSC, epilepsy and intellectual disability and the description of a proposed neuropsychological intervention based on dorsolateral executive functioning.

Palavras-chave : Tuberous Sclerosis Complex; epilepsy; cognitive deficit; intellectual disability; neuropsychological evaluation.

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