Executive functioning in children and adolescents with phenylketonuria

Area of Science:

• Neuroscience
• Pediatrics
• Metabolic Disorders

Background:

• Phenylketonuria (PKU) is a genetic disorder requiring strict dietary management.
• Executive functions (EF) are crucial cognitive processes affected by metabolic conditions.
• Previous research suggests a link between phenylalanine (phe) levels and cognitive deficits in PKU.

Purpose of the Study:

• To investigate the relationship between dietary adherence, phenylalanine (phe) levels, age, and executive functioning (EF) in children and adolescents with PKU.
• To synthesize existing findings to better understand clinical parameters influencing EF in PKU.
• To identify specific EF skills affected by phe levels and adherence.

Main Methods:

• A cohort of 15 children and adolescents with PKU (ages 8-20) was assessed.
• Participants completed the Delis-Kaplan EF Battery and Wechsler Abbreviated Scales of Intelligence.
• Data on age, lifetime and concurrent phe levels, and dietary adherence were collected and analyzed.

Main Results:

• Children and adolescents with PKU demonstrated poorer performance in problem-solving initiation, concept formation, and reasoning.
• Reduced performance in tasks involving inhibitory control, cognitive flexibility, and set shifting was observed with higher phe levels.
• Phe levels correlated positively with age and inversely with dietary adherence.

Conclusions:

• Dynamic clinical parameters, particularly phenylalanine levels influenced by age and diet, significantly impact executive functioning in PKU.
• Decreased dietary compliance in adolescents with PKU is associated with changes in EF skills.
• Continuous monitoring of EF skills is recommended for individuals with PKU, especially during adolescence.