AVALIAÇÃO NEUROPSICOLÓGICA INFANTIL EM PACIENTE COM SÍNDROME DE RUBINSTEIN-TAYBI

Human development is characterized by constant and dynamic changes, in a modularization process in the relationship of brain-behavior. However, there are some disorders that threaten the normal development of the individual and among them genetic syndromes are included. The Rubinstein-Taybi Syndrome is a genetic condition associated with chromosome 16, whose changes cause the physical tampering, cognitive, psychomotor and social-affective dysfunction. This research is a case study which aimed to build the neuropsychological profile of a 7 years old child with SRT and language delay. A scale, an inventory and a qualitative assessment instruments were used. The child received scores lower than expected for his age in both evaluation and adaptive behavior, results that corroborate, with the cognitive impairment due the neurological aspects of the syndrome. Therefore, suggested that more research be performed on the relationship between this rare genetic syndrome and the neuropsychological profile with more samples from the Brazilian population.