Teruya Katia Irie, Remor Eduardo, Schwartz Ida Vanessa Doederlein
Postgraduate Program in Psychology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Postgraduate Program in Psychology, Institute of Psychology, Social Work, Health and Human Communication, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Orphanet J Rare Dis. 2025 Sep 24;20(1):487. doi: 10.1186/s13023-025-03998-5.
Metabolic control in the phenylketonuria (PKU) population is challenging. Perceived barriers to treatment adherence have been shown to be associated with metabolic control outcomes. The objective of this study was to evaluate the psychometric properties of the Perceived Barriers to PKU Treatment Inventory with patients and caregivers in different regions of Brazil.
This is a cross-sectional, observational, non-probability sampling study. The inventory has 25 dichotomous items and two versions, patients and caregivers. Data collection in the present study included online assessment (n = 241) and presential mode (n = 42). Sixty-three PKU patients and 220 caregivers of individuals with PKU participated in this study. Internal consistency reliability, convergent validity, known-group validity, and discriminant validity of both versions (patient and proxy report) were evaluated. Furthermore, score norms based on the current sample are presented. A content analysis of the responses recorded in the open-ended inventory was also conducted.
Adequate reliability and evidence for convergent validity, known- groups validity, and discriminant validity were observed in this sample. Optimal cutoff points were identified through ROC curves (score > 9 for the patient version and score > 6 for the caregiver-proxy version), allowing for the identification of the risk of poor metabolic control due to barriers to dietary adherence. Furthermore, the qualitative analysis showed the relevance of the 25 items and the importance of addressing socio-economic and health system factors that have a significant economic impact on patients' and families' lives.
The findings indicate that the Perceived Barriers to PKU Treatment Inventory is valuable for screening barriers that may contribute to increasing the difficulty of treatment management. And to identify patients and caregivers who may require targeted support to improve dietary adherence and metabolic control.
Not applicable.
苯丙酮尿症（PKU）患者群体的代谢控制具有挑战性。已表明，治疗依从性的感知障碍与代谢控制结果相关。本研究的目的是评估巴西不同地区的患者和护理人员对PKU治疗感知障碍量表的心理测量特性。
这是一项横断面、观察性、非概率抽样研究。该量表有25个二分制项目以及患者版和护理人员版两个版本。本研究的数据收集包括在线评估（n = 241）和现场评估（n = 42）。63名PKU患者和220名PKU患者的护理人员参与了本研究。评估了两个版本（患者报告和代理报告）的内部一致性信度、收敛效度、已知群体效度和区分效度。此外，还给出了基于当前样本的得分标准。对开放式量表中记录的回答进行了内容分析。
在该样本中观察到了足够的信度以及收敛效度、已知群体效度和区分效度的证据。通过ROC曲线确定了最佳截断点（患者版得分>9，护理人员 - 代理版得分>6），从而能够识别由于饮食依从性障碍导致代谢控制不佳的风险。此外，定性分析表明了25个项目的相关性以及解决对患者和家庭生活有重大经济影响的社会经济和卫生系统因素的重要性。
研究结果表明，PKU治疗感知障碍量表对于筛查可能导致治疗管理难度增加的障碍具有重要价值。并识别可能需要有针对性支持以改善饮食依从性和代谢控制的患者和护理人员。
不适用。
