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Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in

Anna Hood1, Jerrel Rutlin2, Joshua S Shimony3

  • 1Department of Psychological and Brain Sciences, Washington University, Campus Box 1125, St. Louis, MO, 63130, USA. annahood@wustl.edu.

JIMD Reports
|July 25, 2016
PubMed

Insights

In children with phenylketonuria (PKU), brain white matter integrity helps explain how phenylalanine (Phe) control impacts executive functions like working memory and strategic processing.

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Pediatric Neurology

Background:

  • Phenylketonuria (PKU) is a metabolic disorder requiring strict phenylalanine (Phe) control.
  • Executive functions are complex cognitive processes often affected in individuals with PKU.
  • The neural mechanisms linking Phe control to executive function deficits in PKU are not fully understood.

Purpose of the Study:

  • To investigate whether brain white matter integrity mediates the relationship between Phe control and executive abilities in children with PKU.
  • To explore the role of specific white matter regions in this mediation pathway.

Main Methods:

  • Diffusion tensor imaging (DTI) was used to assess white matter integrity, specifically mean diffusivity (MD), in posterior parietal-occipital (PPO) and centrum semiovale (CSO) regions.
  • Lifetime Phe exposure and executive abilities (verbal strategic processing, nonverbal strategic processing, working memory) were measured in 36 children with PKU.
  • Mediation modeling was employed to analyze the indirect effects of Phe exposure on executive functions via white matter integrity.

Main Results:

  • Mean diffusivity (MD) in the PPO and CSO mediated the link between Phe exposure and nonverbal strategic processing.
  • MD in the CSO mediated the relationship between Phe exposure and verbal strategic processing.
  • MD in the PPO mediated the relationship between Phe exposure and working memory.

Conclusions:

  • Brain white matter integrity, as measured by MD in specific regions, plays a mediating role in the relationship between Phe control and executive functions in children with PKU.
  • These findings highlight the importance of metabolic control for maintaining white matter integrity and cognitive function.
  • Sophisticated modeling approaches are crucial for understanding the complex interplay of metabolic, neural, and functional factors in PKU.

Keywords:
BrainExecutive abilitiesMediationNeuroimagingPhenylketonuriaWhite matter

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