Orphanet J Rare Dis. 2025 Jun 11;20(1):297. doi: 10.1186/s13023-025-03824-y.
ABSTRACT
BACKGROUND: Phenylketonuria (PKU) is a rare disease. Children who are diagnosed with PKU often encounter psycho-behavioral difficulties, which can significantly impact quality of life and social integration. The aim of this study was to evaluate the prevalence of psycho-behavioral difficulties and explore potential factors associated with their occurrence in PKU children aged 6-18 years.
METHODS: From May 2022 to May 2024, 100 children with PKU were recruited using a questionnaire-based survey. Data were analyzed using the STATA (version 18.0) and R programming language (version 4.3.3).
RESULTS: 25% of children aged 6-18 years with PKU exhibited psycho-behavioral problems. Significant factors associated with psycho-behavioral problems in study children included body mass index (multi-adjusted odds ratio, 95% confidence interval, P: 1.135, 1.010-1.276, 0.033), age (3.169, 1.024-9.804, 0.045), pregnancy order (0.143, 0.033-0.607, 0.008), delivery order (0.041, 0.004-0.373, 0.005), mode of disease diagnosis (5.730, 1.935-16.963, 0.002), and dietary therapy pressure (3.321, 1.083-10.181, 0.036). Based on these significant factors, a nomogram model was constructed with descent prediction capability and accuracy.
CONCLUSIONS: We identified six factors closely associated with psycho-behavioral problems in PKU children, offering insights into risk profiles underlying these problems and guiding the formulation of effective prevention strategies.
PMID:40500796 | DOI:10.1186/s13023-025-03824-y
