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Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National

Parisa Aghasi1, Arya Setoodeh2, Azadeh Sayarifard3

  • 1Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.

Iranian Journal of Pediatrics
|December 5, 2015
PubMed

Insights

Children with phenylketonuria (PKU) and hyperphenylalaninemia (HPA) show intellectual deficits despite early treatment. Regular screening is vital for timely interventions to address these developmental challenges.

Area of Science:

  • Metabolic disorders
  • Neurodevelopmental pediatrics
  • Genetics

Background:

  • Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are inherited metabolic disorders.
  • These conditions result from phenylalanine hydroxylase deficiency, leading to toxic phenylalanine buildup.
  • Elevated phenylalanine levels negatively impact brain development.

Purpose of the Study:

  • To compare intellectual and developmental outcomes in children with HPA/PKU versus a healthy control group.
  • To assess the long-term neurocognitive effects of metabolic errors.
  • To inform screening and intervention strategies for affected children.

Main Methods:

  • A historical cohort study design was employed.
  • 41 PKU patients and 41 healthy controls were evaluated.
  • Intellectual function assessed using Wechsler Preschool and Primary Scale of Intelligence-III (WPPSI-III) for ages 4+.
  • Developmental status evaluated with Ages and Stages Questionnaire (ASQ) for ages 5-.

Main Results:

  • Significant differences observed in overall intellectual performance and specific subscales between PKU patients and controls (P < 0.01).
  • No significant developmental differences were found between the groups (P > 0.05).

Conclusions:

  • Early diagnosis and treatment of PKU do not fully prevent intellectual deficits compared to neurotypical peers.
  • Routine screening of intellectual and developmental status is crucial for PKU patients.
  • Early identification of deficiencies enables targeted medical and educational support.
Abstract

Keywords:
DevelopmentHyperphenylalaninemiaIntelligencePKU

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