Clinical Pharmacy, Institute of Pharmacy, Medical Faculty, Leipzig University, and Drug Safety Center, Leipzig University and Leipzig University Hospital, Bruederstrasse 32, 04103, Leipzig, Germany.
Center for Pediatric Research, University Hospital for Children and Adolescents, Liebigstrasse 20a, 04103, Leipzig, Germany.
Orphanet J Rare Dis. 2024 Aug 26;19(1):313. doi: 10.1186/s13023-024-03315-6.
To investigate the impact of children's inborn error of metabolism (IEMs) on the children's and their parents' lives from the parents' perspective. We focused on disease-related restrictions in various issues of daily life, experienced discrimination, parental family planning, and management of metabolic emergencies.
We conducted a questionnaire-based survey with 108 parents of 119 children with IEM who attended a metabolic outpatient clinic. The children were categorized into 4 cohorts, based on increasing disease severity (cohort 1: IEMs with lowest severity, cohort 4: IEMs with highest severity), and compared by using Tobit regressions.
The severity of the child's IEM was associated with an increase in the intensity of perceived restrictions from the parents' perspective for themselves and their children in all aspects of life: in general, in contact with friends, in the pursuit of hobbies, in childcare/school/occupation, and due to emotional stress. The highest intensity of restrictions in all cohorts was found for the parents themselves in contact with friends (compared to cohort 1: cohort 2: c. 3.556, p = 0.002; cohort 3: c. 4.159, p = 0.003; cohort 4: c. 7.224, p < 0.001). Parents of 8% of children reported that their children were discriminated against because of IEM, with the highest proportion of affected children (43%) in cohort 4. Parental family planning decisions were influenced in 34% of parents, with fear of recurrence being a predominant aspect. Of the parents of children diagnosed with IEMs associated with metabolic emergencies, 68% stated that they felt well or very well prepared for the occurrence of a metabolic emergency, and 100% of parents were able to name the necessary action steps from memory. Nevertheless, 58% stated that they experienced an occurring emergency as rather or very stressful.
From the parents' perspective, the intensity of restrictions increased with the severity of the child's IEM. The study shows the high impact of IEM on parents of children with IEM and the daily challenges they face. These findings emphasize the importance of comprehensive support for parents of children with IEM.
从父母的角度出发，调查儿童先天性代谢错误（IEM）对儿童及其父母生活的影响。我们重点关注日常生活中各种问题与疾病相关的限制、经历歧视、父母的生育计划以及代谢急症的管理。
我们对 119 名患有 IEM 的儿童的 108 名父母进行了一项基于问卷的调查，这些儿童根据疾病严重程度分为 4 个队列（队列 1：疾病严重程度最低的 IEM，队列 4：疾病严重程度最高的 IEM），并使用 Tobit 回归进行比较。
儿童 IEM 的严重程度与父母自身及其子女在生活各个方面感知到的限制程度的增加有关：总的来说，在与朋友接触、追求爱好、照顾孩子/上学/工作以及因情绪压力而受到限制。在所有队列中，父母自身在与朋友接触方面的限制最为严重（与队列 1 相比：队列 2：c.3.556，p=0.002；队列 3：c.4.159，p=0.003；队列 4：c.7.224，p<0.001）。8%的患儿父母报告称，他们的孩子因 IEM 而受到歧视，其中受影响患儿比例最高（43%）的是队列 4。父母的生育计划决策受到了 34%的父母的影响，而对复发的恐惧是主要方面。在被诊断为代谢急症相关 IEM 的患儿父母中，68%的父母表示他们对代谢急症的发生感到准备充分或非常充分，并且 100%的父母能够从记忆中说出必要的行动步骤。尽管如此，仍有 58%的父母表示，他们在发生紧急情况时感到相当或非常紧张。
从父母的角度来看，限制的强度随着孩子 IEM 的严重程度而增加。该研究表明，IEM 对患有 IEM 的儿童的父母影响很大，他们面临着日常挑战。这些发现强调了为患有 IEM 的儿童的父母提供全面支持的重要性。
