Abstract
Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in executive function (although adolescents with phenylketonuria performed slightly worse than their siblings). Biochemical relationships with executive function were confined to long-term measures of high phenylalanine:tyrosine ratio exposure, as well as tyrosine exposure independent of phenylalanine. This study suggests that early and continuously treated PKU results in non-significant EF differences (compared to siblings), although the influence of long-term exposure to poorer metabolic control is still evident.
Highlights
The functional impact of executive function (EF) impairments in children with early and continuously treated phenylketonuria (ECTPKU) has been well documented and quite marked, leading to an increased risk of ADHD diagnosis [1,2,7]
Correlations between lifetime, b12 year, and concurrent measures of phenylalanine, tyrosine, and the phe:tyr ratio as well as the two measures of executive function. ⁎ Corresponding author (EF) were generated to test for associations between biochemical markers in the classical PKU cohort and parent report of EF impairment (GEC and Working memory (WM)). t-Scores were used to account for age and sex variations
Three significant correlations were observed: lifetime tyrosine and Global Executive Composite (GEC) (r = −.546, p = .027), tyrosine b12 years and GEC (r = −.500, p = .041) and lifetime phenylalanine:tyrosine ratio and GEC (r = .478, p = .049). These correlations indicated that lower lifetime tyrosine and lower tyrosine prior to 12 years were associated with an increased parent report of global EF impairment, and that a higher lifetime phenylalanine:tyrosine ratio was associated with an increased parent report of global EF impairment
Summary
The functional impact of executive function (EF) impairments in children with early and continuously treated phenylketonuria (ECTPKU) has been well documented and quite marked, leading to an increased risk of ADHD diagnosis [1,2,7]. This study replicates previous investigations exploring the relationship between EF impairment and biochemical control in this population [6]. Consistent with previous research it was expected that 1) children with PKU would show greater impairments than their siblings in EF, and that EF impairment would be more strongly associated with poorer metabolic control (higher phenylalanine, phenylalanine:tyrosine ratio and lower tyrosine markers; [3])
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