Treatment adherence and associated factors among children with phenylketonuria

YANG Huiying; YAN Yaqiong; YAN Meiqin; ZHANG Xiaogang; XUE Jinjie; CHENG Lingling; YEERMAIMAITI Sulayati; MO Xiaowei

doi:10.11852/zgetbjzz2025-1267

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Chinese Journal of Child Health Care ›› 2026, Vol. 34 ›› Issue (11) : 1203-1208. DOI: 10.11852/zgetbjzz2025-1267

Birth Defect Screening and Genetic Diagnosis

Treatment adherence and associated factors among children with phenylketonuria

YANG Huiying¹, YAN Yaqiong^1,2, YAN Meiqin², ZHANG Xiaogang², XUE Jinjie², CHENG Lingling¹, YEERMAIMAITI Sulayati¹, MO Xiaowei¹

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Abstract

Objective To assess treatment adherence among children with phenylketonuria (PKU), and to examine the associations and pathways linking socioeconomic factors, individual characteristics, and treatment-related behaviors with adherence, so as to provide evidence for improving PKU outcomes. Methods This retrospective study included 169 children with PKU who were diagnosed at the Newborn Screening Center of Shanxi Children′s Hospital (Shanxi Maternal and Child Health Care Hospital) between April 1, 2016, and December 31, 2023, and who remained in follow-up through December 31, 2024.Good treatment adherence was defined as meeting both of the following criteria: at least six blood phenylalanine (Phe) measurements in the past year and Phe concentrations within the target range in ≥70% of measurements.The participants were classified into good-adherence (n=78) and poor-adherence (n=91) groups.Univariate and multivariable logistic regression analyses were used to identify factors associated with treatment adherence, and structural equation modeling (SEM) was used for path analysis. Results Maternal education of junior college level or higher (OR=2.492, 95%CI: 1.133 - 5.477), urban residence (OR=2.625, 95%CI: 1.272 - 5.418), and a monthly household income of CNY 4 000 - 8 000 (OR=2.245, 95%CI: 1.018 - 4.925) or >CNY 8 000 (OR=4.055, 95%CI: 1.070 - 15.370) were associated with higher odds of good treatment adherence(P<0.05).Older age (OR=0.456, 95%CI: 0.240 - 0.871) and a longer interval before initiation of dietary treatment (OR=0.958, 95%CI: 0.930 - 0.987) were associated with lower odds of good treatment adherence (P<0.05).SEM showed that socioeconomic factors and time to initiation of dietary treatment were directly associated with treatment adherence, with standardized path coefficients of 0.614 and -0.186, respectively.Socioeconomic factors were also indirectly associated with treatment adherence through time to initiation of dietary treatment (standardized path coefficient=0.044). Conclusions Family socioeconomic status is directly associated with treatment adherence in children with PKU and is also indirectly associated with adherence through the timing of dietary treatment initiation.The results may help guide targeted interventions to improve treatment adherence.

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phenylketonuria / treatment adherence / structural equation modeling / children

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YANG Huiying, YAN Yaqiong, YAN Meiqin, ZHANG Xiaogang, XUE Jinjie, CHENG Lingling, YEERMAIMAITI Sulayati, MO Xiaowei. Treatment adherence and associated factors among children with phenylketonuria[J]. Chinese Journal of Child Health Care. 2026, 34(11): 1203-1208 https://doi.org/10.11852/zgetbjzz2025-1267

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