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Cognitive findings and behavior in children and adolescents with phenylketonuria

Simona Cappelletti1, Giovanna Cotugno, Bianca M Goffredo

  • 1Unit of Clinical Psychology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Journal of Developmental and Behavioral Pediatrics : JDBP
|June 21, 2013
PubMed

Insights

Early treated phenylketonuria (PKU) patients often show executive function deficits. Adherence to diet impacts cognitive and behavioral outcomes in children with PKU.

Area of Science:

  • Neuroscience
  • Pediatrics
  • Metabolic Disorders

Background:

  • Phenylketonuria (PKU) is a rare genetic disorder requiring early diagnosis and lifelong dietary management.
  • Management of PKU involves strict adherence to a low-phenylalanine (Phe) diet to prevent neurocognitive sequelae.
  • Cognitive and behavioral outcomes in early-treated PKU patients require ongoing assessment.

Purpose of the Study:

  • To evaluate cognitive development, specifically executive functions (EFs), and behavioral patterns in early-treated PKU patients.
  • To examine the relationship between plasma Phe levels, dietary adherence, and cognitive/behavioral outcomes.
  • To identify residual challenges in patients with PKU despite early intervention.

Main Methods:

  • A cross-sectional study design was employed.
  • Participants included early-treated PKU patients over 4 years old.
  • Cognitive development (Wechsler Scales), executive functions (Tower of London), and behavior (Child Behavior Checklist) were assessed.

Main Results:

  • Mean Full Scale IQ was within the normal range (93.4 ± 17.4).
  • A majority of patients exhibited deficits in executive functions (EFs), with 8 scoring more than 2 SD below the norm.
  • Internalizing problems were noted in 38.7% of patients, higher in those with better dietary adherence and lower IQ.

Conclusions:

  • Early diagnosis and treatment of PKU can lead to residual executive function deficits, particularly if phenylalanine (Phe) levels are not optimally controlled.
  • Higher scores for internalizing behaviors were observed in compliant patients, suggesting a complex interplay between diet adherence and psychological well-being.
Abstract

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