Perfil neuropsicológico e desempenho executivo de crianças com fenilcetonúria tratada

Morão, Cindy Pereira de Almeida Barros
Macedo, Elizeu Coutinho de
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Brunoni, Decio
Campanhã, Camila
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Subjects with early-treated phenylketonuria commonly do not develop intellectual disability, but present difficulties in adaptive behavior, in addition to school difficulties. Neuropsychological evidence suggests that deficits in executive functions are the main cognitive difficulties presented by these patients. The objective of this study was to trace the cognitive profile of children with phenylketonuria by means of comparison with normative data in tests that evaluate different cognitive functions, this profile was correlated with measures of phenylalanine presented during the course of their lives. Twenty subjects with treated phenylketonuria participated in the study. Individuals with PKU were selected from the Reference Service in Neonatal Screening of APAE-SP. To evaluate the executive functions, the Children Gambling Task and Adaptation of the Delay of Gratification, as well as Rey's Complex Figure, the Five Digits Test, the Children Behavior Checklist 6/18; and the Verbal Fluency Test. To trace the cognitive and learning profile of the children were used: Wechsler Intelligence Scale for Children - IV; Rey's auditory-verbal learning test; Test of Competence of Reading of Words and Pseudowords; Quick automatic naming test; and SNAP-IV. The data of phenylalanine levels were collected from the APAE-SP database. Participants with phenylketonuria showed great variability in their performance. In general, they presented intelligence within the lower limit of the average, with greater difficulty in operational memory; average performance in language with better performance in naming letters and numbers; problems of behavior within the average with major internalizing problems; half of the subjects presented signs of inattention according to the SNAP-IV scale; also showed performance within the lower limit of the average in: planning; in alternation, choice and flexibility. They presented difficulties in task of aversion to the delay in the items of toys; presented a score in the Children Gambling Task score; were presented: moderate positive associations between the task of inhibition of the Five Digits Test and the performance in the Children Gambling Task; associations between the slope and the Children Gambling Task; moderate negative associations between Total Intellectual Quotient, Perceptual Organization Index, Processing Speed Index, and phenylalanine data.
fenilcetonúria , neuropsicologia , funções executivas , tomada de decisão
MORÃO, Cindy Pereira de Almeida Barros. Perfil neuropsicológico e desempenho executivo de crianças com fenilcetonúria tratada. 2017. 87 f. Dissertação( Distúrbios do Desenvolvimento) - Universidade Presbiteriana Mackenzie, São Paulo.