[Neurological status and psychomotor development of children with phenylketonuria treated early]

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Metabolic Disorders

Background:

• Phenylketonuria (PKU) is a genetic disorder requiring dietary management.
• Early intervention with a low phenylalanine diet is crucial for preventing intellectual disability in PKU patients.
• The extent to which early treatment prevents all central nervous system (CNS) damage remains an area of investigation.

Purpose of the Study:

• To evaluate the long-term neurological and psychological outcomes in children with PKU treated early with a low phenylalanine diet.
• To determine if early and sustained dietary management can prevent all forms of CNS damage in PKU.
• To compare outcomes in treated PKU children with those untreated or late-treated.

Main Methods:

• Longitudinal neurological and psychological assessments of 118 PKU children treated before 6 weeks of age.
• Comparative analysis with 90 children with untreated or late-treated PKU.
• Detailed case analysis considering dietary adherence and treatment duration.

Main Results:

• 66.1% of treated children had normal neurological status and mental development, with some visual-motor maturation delays.
• 29.7% exhibited hyperkinetic syndrome, and 4.2% showed both intellectual disability and hyperkinetic syndrome.
• All 90 children in the untreated/late-treated group presented with severe neurological abnormalities and intellectual disability.

Conclusions:

• The first year of life is critical for the diet's impact on PKU patient development.
• Continuous dietary treatment is necessary for optimal outcomes in PKU.
• Even with adherence to prescribed treatment, minimal CNS damage in PKU patients cannot always be prevented.