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Executive function in early-treated phenylketonuria: profile and underlying mechanisms
Shawn E Christ1, Stephan C J Huijbregts, Leo M J de Sonneville
1Department of Psychological Sciences, 210 McAlester Hall, University of Missouri, Columbia, MO 65203, USA. christse@missouri.edu
Individuals with early-treated phenylketonuria (PKU) often show executive function (EF) deficits, particularly in working memory and response inhibition. Research is ongoing to clarify the pattern of impairment and its relationship to phenylalanine levels.
Area of Science:
- Neuropsychology
- Cognitive Neuroscience
- Metabolic Disorders
Background:
- Early and continuous dietary intervention in phenylketonuria (PKU) aims to prevent neurocognitive sequelae.
- Executive functions (EF) are a critical area of cognitive ability potentially affected in early-treated PKU.
Purpose of the Study:
- To critically review the evidence for executive function impairment in early-treated PKU.
- To contextualize findings within recent advances in neuropsychological theory and research.
Main Methods:
- Systematic review of existing literature on executive function in early-treated PKU.
- Analysis of variability in findings related to cohort characteristics and task methodologies.
Main Results:
- Consistent impairments observed in executive working memory and prepotent response inhibition.
- Equivocal findings for shifting ability and more complex EF aspects.
- Unclear patterns of day-to-day EF impairment and its relation to laboratory measures.
Conclusions:
- Phenylalanine (Phe) levels, cohort factors, and task differences contribute to varied EF outcomes in PKU.
- Neurologic factors like dopamine deficiency and white matter abnormalities may underlie EF deficits.
- Further research is needed to address remaining questions regarding EF in PKU.
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