Abstract
In the last decade, health-related quality of life (HrQoL) has become an increasingly important outcome parameter in children and adolescents with chronic health conditions; among them are pediatric patients with inborn metabolic diseases (IMDs). Hence, knowledge on this topic is increasing, but findings on non-medical influences on the HrQoL of IMD patients are still scarce. In the present study, we retrospectively evaluated the self-reported generic HrQoL of a cohort of pediatric patients (ages 7 to 17 years) with diverse IMDs (n = 204) and explored associations between HrQoL and psychosocial and medical characteristics of the patients. We aimed to identify risk factors for impaired HrQoL to improve and tailor support for the patients and economize resources. Generic HrQoL was assessed with the KINDL-R questionnaire. We compared the HrQoL scores to published German normative data and analyzed the impact of demographic variables and intellectual and psychosocial functioning on the HrQoL. Moreover, we examined the influence of the diagnostic category and the health impairment (as judged by the physicians) on our patients’ HrQoL. Overall, the HrQoL of the adolescent patients was comparable to the HrQoL of the norm group. Disorders of intellectual development, impaired psychosocial functioning, and a severe health impairment were associated with lower HrQoL scores.Conclusion: We recommend evaluating these factors in children and adolescents with IMDs to identify patients at risk for impaired HrQoL.What is Known:• Studies on HrQoL in pediatric patients with IMDs mainly focused on subgroups with specific diagnoses and found normal HrQoL in some of those subgroups.• In healthy children and adolescents as well as in pediatric patients with various chronic diseases, associations between psychosocial factors and HrQoL are well known.What is New:• Impaired psychosocial functioning, disorders of intellectual development, and a significant disease and/or treatment burden are risk factors for impaired HrQoL in pediatric patients with IMDs.• Evaluating these factors in children and adolescents with IMDs can help identify patients and families in need of enhanced psychological support.
Highlights
MethodsInborn metabolic diseases (IMDs) represent a large, heterogeneous group of genetic disorders that lead to a dysfunctional metabolism with observable effects already in early childhood
Our study investigated the healthrelated quality of life (HrQoL) of pediatric patients with diverse inborn metabolic diseases (IMDs) receiving treatment at a pediatric metabolic center and aimed to understand associations between the patients’ medical and psychosocial characteristics and their self-reported HrQoL to identify risk factors for impaired HrQoL
We investigated the self-reported generic HrQoL and its associations with psychosocial and medical characteristics in a cohort of over 200 children and adolescents affected by an IMD and receiving special care in a large, acknowledged center for pediatric IMDs
Summary
Inborn metabolic diseases (IMDs) represent a large, heterogeneous group of genetic disorders that lead to a dysfunctional metabolism with observable effects already in early childhood. A classification of inherited metabolic disorders is provided by the Society for the Study of Inborn Errors of Metabolism (SSIEM) [1]. Due to these diseases’ heterogeneity, patients exhibit mild to severe symptoms and are faced with different and sometimes challenging therapeutic options. Psychological developmental assessment and healthrelated quality of life (HrQoL) measurement are recommended in several guidelines for the professional care of different IMDs (e.g., [4,5,6,7,8]). Previous studies have mainly investigated subgroups of these patients and the influence of treatment protocols on their HrQoL (e.g., [2, 10,11,12,13,14])
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