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Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years

Mei Xue1,2, Ming Shen2, Shunan Wang1,2

  • 1Graduate School, Beijing University of Chinese Medicine, Beijing, China.

Orphanet Journal of Rare Diseases
|June 11, 2025
PubMed

Insights

Phenylketonuria (PKU) affects 25% of children with psycho-behavioral issues. Key factors include BMI, age, birth order, diagnosis method, and dietary therapy pressure, aiding prevention strategies.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Psychology

Background:

  • Phenylketonuria (PKU) is a rare metabolic disorder.
  • Children with PKU often experience psycho-behavioral difficulties impacting quality of life and social integration.

Purpose of the Study:

  • To determine the prevalence of psycho-behavioral difficulties in children with PKU aged 6-18 years.
  • To identify factors associated with these difficulties in PKU patients.

Main Methods:

  • A questionnaire-based survey was conducted with 100 children diagnosed with PKU.
  • Data analysis utilized STATA (v18.0) and R (v4.3.3).

Main Results:

  • 25% of PKU children (aged 6-18) exhibited psycho-behavioral problems.
  • Significant associated factors included BMI, age, pregnancy/delivery order, diagnosis method, and dietary therapy pressure.
  • A predictive nomogram model was developed based on these factors.

Conclusions:

  • Six key factors were identified as closely associated with psycho-behavioral problems in PKU children.
  • These findings provide insights into risk profiles and inform prevention strategies for PKU-related psycho-behavioral issues.
Abstract

Keywords:
ChildrenFactorsPhenylketonuriaPsycho-behavioral problemsRare disease

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