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Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective

Laetitia Paermentier1,2,3, Aline Cano4, Brigitte Chabrol4,5

  • 1Reference Center of Hereditary Metabolic Diseases, AP-HM, La Timone University Hospital, 264 rue Saint Pierre, 13005, Marseille, France. laetitia.paermentier@ap-hm.fr.

Orphanet Journal of Rare Diseases
|July 3, 2023
PubMed

Insights

Preschoolers with phenylketonuria (PKU) show early executive dysfunction, unlike those with moderate hyperphenylalaninemia (MHP). Metabolic factors like phenylalanine levels may predict these executive difficulties in young PKU patients.

Area of Science:

  • Neuropsychology
  • Metabolic Disorders
  • Pediatrics

Background:

  • Hyperphenylalaninemia (HPA) is linked to neuropsychological disorders.
  • Executive function impairment is a suspected cause of neuropsychological issues in phenylketonuria (PKU) and moderate hyperphenylalaninemia (MHP).
  • Early onset of executive disorders in HPA requires further investigation.

Purpose of the Study:

  • To investigate early executive dysfunction in HPA patients.
  • To explore links between executive function and metabolic variables in PKU and MHP.
  • To align with new international classifications for PKU and MHP.

Main Methods:

  • Included 23 HPA children (12 PKU, 11 MHP) aged 3-5 years.
  • Compared HPA children to 50 age- and socio-demographically matched control children.
  • Assessed executive functions using performance-based tests and parent/teacher questionnaires.

Main Results:

  • Preschool HPA patients showed comparable executive scores to controls.
  • PKU patients performed significantly worse than MHP patients on verbal working memory, visual working memory, and cognitive inhibition tests.
  • No daily life executive complaints were reported by parents or teachers for either HPA group.
  • Three correlations were found between executive scores and phenylalanine (Phe) levels (at inclusion, mean, and variability).

Conclusions:

  • Evidence suggests early executive dysfunction in preschool PKU children, but not in MHP children.
  • Metabolic indicators, such as Phe levels, can sometimes predict executive difficulties in young PKU patients.
Abstract

Keywords:
BRIEF-PExecutive functionHyperphenylalaninemiaModerate hyperphenylalaninemiaPhenylketonuriaPreschool children

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