Bösch Florin, Landolt Markus A, Baumgartner Matthias R, Fernandez Susana, Forny Patrick, Gautschi Matthias, Grünert Sarah C, Häberle Johannes, Horvath Carolina, Karall Daniela, Lampis Danila, Rohrbach Marianne, Scholl-Bürgi Sabine, Szinnai Gabor, Huemer Martina
Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Mol Genet Metab Rep. 2022 May 6;31:100876. doi: 10.1016/j.ymgmr.2022.100876. eCollection 2022 Jun.
Living with a non-acute (phenylketonuria) or acute (e.g. urea cycle disorders, organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a substantial impact on health-related quality of life (HrQoL) of paediatric patients and their families. Parents take primary responsibility for treatment monitoring and experience worry and fear about their child's health status. Quantitative evidence on parental psychological factors which may influence the HrQoL of patients with IT-IEM are sparse to non-existent.
In this multicenter survey study 50 parents of IT-IEM patients (ages 5-19) assessed the severity of their child's disease, reported on caregiver burden, and proxy-rated their child's HrQoL. Additionally, 35 patient self-reports on HrQoL were obtained ( = 16 female patients, = 19 male patients). Multiple linear regressions were conducted to examine the predictive power of child age, sex, medical diagnosis type (acute / non-acute), parental perceived disease severity and caregiver burden on patients' HrQoL. Mediation analyses were used to investigate the relation of caregiver burden and parental ratings of disease severity with patients' HrQoL.
Significant regression models for self-reported [(5,34) = 10.752, < .001, adj. = 0.59] and parent proxy reported HrQoL [(5,49) = 20.513, < .001, adj. = 0.67] emerged. High caregiver burden and perceived disease severity predicted significantly lower patient self- and proxy-reported HrQoL while type of diagnosis (acute versus non-acute) did not. Female sex predicted significantly lower self-reported HrQoL. High caregiver burden was the mediating factor between high perceived severity of the child's disease and lower proxy- by parent rated HrQoL.
Detecting elevated burden of care and providing support for parents seems crucial to prevent adverse consequences for their children's HrQoL. Intervention studies are needed, to assess which support programs are most efficient.
患有非急性（苯丙酮尿症）或急性（如尿素循环障碍、有机酸血症）中毒型先天性代谢缺陷病（IT-IEM）会对儿科患者及其家庭的健康相关生活质量（HrQoL）产生重大影响。父母对治疗监测负主要责任，并对孩子的健康状况感到担忧和恐惧。关于可能影响IT-IEM患者HrQoL的父母心理因素的定量证据稀少甚至不存在。
在这项多中心调查研究中，50名IT-IEM患者（年龄5 - 19岁）的父母评估了孩子疾病的严重程度，报告了照顾者负担，并代理评估了孩子的HrQoL。此外，还获得了35份患者关于HrQoL的自我报告（16名女性患者，19名男性患者）。进行了多元线性回归分析，以检验儿童年龄、性别、医学诊断类型（急性/非急性）、父母感知的疾病严重程度和照顾者负担对患者HrQoL的预测能力。采用中介分析来研究照顾者负担和父母对疾病严重程度的评分与患者HrQoL之间的关系。
出现了自我报告的HrQoL的显著回归模型[F(5,34) = 10.752, p <.001, R² adj. = 0.59]和父母代理报告的HrQoL的显著回归模型[F(5,49) = 20.513, p <.001, R² adj. = 0.67]。高照顾者负担和感知的疾病严重程度显著预测了患者自我报告和代理报告的较低HrQoL，而诊断类型（急性与非急性）则没有。女性性别显著预测了较低的自我报告的HrQoL。高照顾者负担是孩子疾病高感知严重程度与父母代理评估的较低HrQoL之间的中介因素。
发现照顾负担加重并为父母提供支持对于预防对孩子HrQoL的不良后果似乎至关重要。需要进行干预研究，以评估哪些支持项目最有效。
