Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria

Area of Science:

• Neuroscience
• Metabolic Disorders
• Pediatric Health

Background:

• Classical phenylketonuria (PKU) is a metabolic disorder requiring lifelong management.
• Elevated phenylalanine levels can negatively impact neurodevelopment.

Purpose of the Study:

• To investigate the relationship between phenylalanine levels and cognitive, executive, behavioral, and motor functions in children with PKU.
• To explore the impact of age, phenylalanine level variation, and average levels on neurodevelopmental outcomes.

Main Methods:

• Cognitive, executive, behavioral, and motor assessments were administered to 18 children with PKU (aged 12-101 months).
• Analysis included current and lifetime average phenylalanine levels, and individual variation (standard deviation).

Main Results:

• Lower phenylalanine levels correlated with higher cognitive function in children aged 3+ years.
• Elevated phenylalanine levels were associated with more difficult temperament.
• Motor function was impaired, particularly at levels >360 micromol/l.
• Increased phenylalanine level variation correlated with poorer executive function.

Conclusions:

• Maintaining phenylalanine levels below 360 micromol/l may be essential for optimal cognitive and behavioral outcomes in PKU.
• Phenylalanine level fluctuations represent a potential concern for executive function and warrant further investigation.