Department of Psychosomatics and Psychiatry, University Children's Hospital, University of Zurich, Zurich, Switzerland.
Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland.
J Pediatr Psychol. 2024 Nov 1;49(11):827-839. doi: 10.1093/jpepsy/jsae076.
Children and adolescents with rare diseases face significant barriers when accessing healthcare. We aimed to assess and predict these barriers and investigate associations with health-related quality of life (HRQoL).
We conducted a cross-sectional survey of Swiss parents (N = 189) of children with rare diseases including the Barriers to Care Questionnaire (BCQ), containing six barriers and the Pediatric Quality of Life Inventory (PedsQL). Latent profile analysis (LPA) was used to uncover distinct classes, which were compared using chi-square tests and Mann-Whitney U tests. Relevant medical and sociodemographic class predictors were identified using Elastic Net regression, followed by regression analysis to investigate their role in predicting barriers to care and examine the effects of these classes on HRQoL.
Two distinct groups were identified, a higher barriers class (59%) and a lower barriers class (41%). In the higher barriers class, participants showed elevated scores across all subscales and specifically on pragmatics and expectations. More barriers to care were linked to a nonstable disease course (OR = 2.27, p = .002) and a diagnosis after the age of 3 months (OR = 2.17, p = .006). Individuals in the higher barriers class exhibited more psychological comorbidities (p = .044), congenital malformations/deformations/chromosomal abnormalities (p=.042), and medical misdiagnoses (p = .006). Children in the higher barriers class had significantly lower PedsQL scores compared to the lower barriers class (p <.05).
This study highlights the need for comprehensive assessment of barriers to pediatric care in rare diseases, offering potential entry points for targeted interventions.
儿童和青少年罕见病患者在获得医疗保健方面面临重大障碍。我们旨在评估和预测这些障碍，并研究其与健康相关生活质量（HRQoL）的关联。
我们对瑞士患有罕见病的儿童的父母（N=189）进行了横断面调查，包括障碍护理问卷（BCQ），其中包含六个障碍和儿科生活质量量表（PedsQL）。使用潜在剖面分析（LPA）揭示不同的类别，使用卡方检验和曼-惠特尼 U 检验对这些类别进行比较。使用弹性网络回归确定相关的医疗和社会人口统计学类别预测因子，然后进行回归分析，以调查它们在预测护理障碍中的作用，并检查这些类别对 HRQoL 的影响。
确定了两个不同的组别，一个是高障碍组（59%），一个是低障碍组（41%）。在高障碍组中，所有子量表和特定的语用和期望方面的参与者得分均升高。更多的护理障碍与疾病过程不稳定（OR=2.27，p=0.002）和 3 个月后诊断（OR=2.17，p=0.006）有关。在高障碍组中，个体表现出更多的心理合并症（p=0.044）、先天性畸形/变形/染色体异常（p=0.042）和医疗误诊（p=0.006）。高障碍组的儿童与低障碍组相比，PedsQL 评分显著较低（p<.05）。
本研究强调了在罕见病中全面评估儿科护理障碍的必要性，为有针对性的干预提供了潜在的切入点。
