Abstract
BackgroundRare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of such diseases on the family, especially on the quality of life and life perspectives of parents, but also on the families’ everyday life, based on the model of two diseases which have been well described in recent years with respect to symptoms and course: metachromatic leukodystrophy (MLD) and pontocerebellar hypoplasia type 2 (PCH2). PCH2 is a primary severe developmental disorder, while children with MLD initially develop normally and then progressively deteriorate.MethodsUsing a semi-standardized questionnaire, 43 families with children suffering from MLD (n = 30) or PCH2 (n = 19) reported data on the severity of the illness/symptoms, on family support and the care situation, as well as on the circumstances of non-affected siblings and the parents’ work situation. In addition, the quality of life of parents and general family functioning was assessed using the PedsQL™ Family Impact Module [23]. Results for the latter were compared to published data from families with children without any chronic condition using student’s t-tests for independent samples. Potential factors influencing the PedsQL™ scores were analyzed using Spearman’s rank correlation.ResultsParents of children with MLD and PCH2 reported significantly lower health-related quality of life (HRQOL) compared to parents of healthy children (P < 0.001). Mothers showed significantly poorer HRQOL (P < 0.05) and were significantly more dissatisfied with their professional development (P < 0.05) than fathers, and this was seen in relation to their child's disease. Neither the form of disease (‘primary’ symptomatic PCH2 or ‘secondary’ symptomatic MLD), nor the severity of the child’s illness (in terms of gross motor and speech function) had a specific impact on HRQOL in families. However, the time from diagnosis and advanced symptoms in the terminal disease stage were experienced as especially distressing.ConclusionsThis study illustrates that MLD and PCH2 affect mothers in particular, but also the entire family. This underlines the need for personalized care and counselling of parents and families, especially following diagnosis and during the end stage in a child with a severe, rare chronic neurological disorder.
Highlights
Rare and severe neurological disorders in childhood heavily affect the life perspective of the patients, and their caregivers and families
Recruitment After approval by the ethics committee of the Faculty of Medicine Tübingen, in November and December 2016 parents of children suffering from metachromatic leukodystrophy (MLD) and pontocerebellar hypoplasia type 2 (PCH2) were asked to participate in this study
Five MLD and four PCH2 families were included in the study that had two affected children each
Summary
Rare and severe neurological disorders in childhood heavily affect the life perspective of the patients, and their caregivers and families [1,2,3,4].They are Ammann‐Schnell et al Orphanet J Rare Dis (2021) 16:211 confronted with many different worries and challenges. They realize that their child’s development is not as would be expected and the time to diagnosis may be lengthy and full of uncertainties, which cause anxiety [5]. The different dynamics of the diseases, in addition to the different forms of severity (in MLD), may variably contribute to the burden associated with these diseases
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