An International Study of Caregiver-Reported Burden and Quality of Life in Metachromatic Leukodystrophy

Title

An International Study of Caregiver-Reported Burden and Quality of Life in Metachromatic Leukodystrophy

Creator

Sevin C; Barth M; Wilds A; Afriyie A; Walz M; Dillon A; Howie K; Pang F

Publisher

Orphanet Journal of Rare Diseases

Date

2022

Subject

Leukodystrophy Metachromatic/Genetics; Quality of Life/Psychology; Burden of illness; Caregiver burden; Caregiver experience; Caregivers; Child; Early-onset; Family; Humans; Juvenile; Late infantile; Metachromatic leukodystrophy; Mld; Quality of Life; Surveys and Questionnaires

Description

BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients and their caregivers. This multinational study aims to quantify caregiver-related impacts of MLD across several key domains including symptoms, treatment burden, time investment, social and emotional well-being, and professional and financial impact. RESULTS: Data were collected through moderator-assisted web survey and telephone interviews. The survey was developed with extensive input from clinical experts and MLD patient advocacy groups. The EQ-5D-5L questionnaire was administered during follow-up interviews. The total sample consisted of parents of MLD patients in the US (n = 10), France (n = 10), Germany (n = 6), UK (n = 5), Belgium (n = 1), and Norway (n = 2). The impact of MLD is evident from the EQ-5D-5L scores, which indicate utility values for caregivers below respective national population norms and a higher proportion of caregivers reporting problems with anxiety/depression. Time involved for care was demonstrated by a mean of 4.1 inpatient and 29.6 outpatient hospital visits in the previous 12-month period. These commitments place stress on familial relationships with 50% of caregivers reporting their child's MLD diagnosis had negatively impacted their relationship with their spouse/partner. Professionally, 76.5% of caregivers stopped working or switched to part-time employment following their child's MLD diagnosis, and most acknowledged caring for their child had affected their potential for career progression or promotion. Differences are also observed based on late infantile versus juvenile onset MLD, time since diagnosis, and for transplanted patients versus those who received palliative care only. CONCLUSIONS: This multinational study demonstrates that MLD consistently negatively affects many aspects of caregivers' lives including health, relationships, and professional status, irrespective of location. We expect that the results of this study are generalizable to other countries. This study enhances our understanding of MLD caregiver impacts, which could improve patient care and assist in identifying support for individuals with MLD and their families.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation List Month

November 2022 List

Collection

Citation

Sevin C; Barth M; Wilds A; Afriyie A; Walz M; Dillon A; Howie K; Pang F, “An International Study of Caregiver-Reported Burden and Quality of Life in Metachromatic Leukodystrophy,” Pediatric Palliative Care Library, accessed June 22, 2024, https://pedpalascnetlibrary.omeka.net/items/show/18541.