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Intellectual development in 12-year-old children treated for phenylketonuria.
C G Azen1, R Koch, E G Friedman
1Division of Medical Genetics, Children's Hospital of Los Angeles, Calif. 90027.
American Journal of Diseases of Children (1960)
|January 1, 1991
Summary
Maintaining a low phenylalanine diet is crucial for children with phenylketonuria (PKU). Early and continuous dietary control prevents cognitive deficits, though arithmetic skills may decline.
Area of Science:
- Neuroscience
- Metabolic Disorders
- Pediatrics
Background:
- Phenylketonuria (PKU) is a genetic disorder requiring lifelong dietary management.
- Early intervention with phenylalanine restriction is standard practice for PKU patients.
- Long-term outcomes of dietary therapy on cognitive function require further investigation.
Purpose of the Study:
- To evaluate the long-term effects of phenylalanine levels on cognitive and achievement test scores in children with PKU.
- To determine the optimal duration for maintaining dietary phenylalanine restriction.
Main Methods:
- Assessed intelligence and achievement test scores in 95 12-year-old children with PKU.
- Categorized children based on adherence to dietary control (phenylalanine < 900 mumol/L) versus poor control.
- Correlated test scores with age of diet initiation, phenylalanine levels, parent IQ, and age of dietary control loss.
Main Results:
- Lower phenylalanine levels and earlier diet initiation correlated with better test scores.
- Children maintaining phenylalanine < 900 mumol/L beyond age 10 showed no global deficits.
- Arithmetic scores declined in 90% of children, irrespective of dietary control, between ages 6 and 12.
Conclusions:
- Continuous dietary restriction of phenylalanine through adolescence is strongly recommended for individuals with PKU.
- While overall cognitive function may be preserved, specific deficits like in arithmetic warrant attention.
- Long-term phenylalanine control is critical for neurocognitive outcomes in PKU.