Abstract
BackgroundCapturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden. We aimed to develop and validate an instrument to measure the impact on caregivers of caring for children with three lysosomal storage diseases (LSDs): metachromatic leukodystrophy (MLD), neuronopathic mucopolysaccharidosis type II (MPS II) and mucopolysaccharidosis type IIIA (MPS IIIA).MethodsA draft instrument was developed based on targeted literature searches and revised through sequential qualitative interviews with caregivers of patients first with MLD (n = 16), then with MPS II (n = 22), and finally with MPS IIIA (n = 8). The instrument, which covered domains of physical, emotional, social and economic burden, was refined at each stage of development based on caregiver feedback. Saturation of major concepts was reached during concept elicitation (MLD and MPS II).ResultsIt was confirmed that caring for a patient with an LSD impacts social functioning, emotional/psychological functioning, physical functioning, daily activities, and finances/work productivity. Results from cognitive debriefing of the draft questionnaires were considered during each round of interviews, resulting in a final set of items that caregivers found clear and easy to understand. The Caregiver Impact Questionnaire (CIQ) has 30 items in five domains: (1) social functioning (7 items); (2) impact on daily activities (5 items); (3) emotional/psychological functioning (10 items); (4) physical functioning (6 items); and (5) financial impact (2 items).ConclusionsThese findings demonstrate that the content of the CIQ is relevant for determining the impact of caring on caregivers of patients with MLD, MPS II and MPS IIIA.
Highlights
Capturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden
Twenty-two caregivers for patients with MPS Mucopolysaccharidosis type II (II) were interviewed in stage 2 (14 in concept elicitation, eight in cognitive debriefing), and eight caregivers for patients with MPS Mucopolysaccharidosis type IIIA (IIIA) in stage 3
The mean age of caregivers was late 30s to early 40s, over 85% were female, and for metachromatic leukodystrophy (MLD) and mucopolysaccharidosis type II (MPS II) at least 82% were married and the mother of the child
Summary
Capturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden. We aimed to develop and validate an instrument to measure the impact on caregivers of caring for children with three lysosomal storage diseases (LSDs): metachromatic leukodystrophy (MLD), neuronopathic mucopolysaccharidosis type II (MPS II) and mucopolysaccharidosis type IIIA (MPS IIIA). The inherited metabolic diseases metachromatic leukodystrophy (MLD), mucopolysaccharidosis type II (MPS II, known as Hunter syndrome) and mucopolysaccharidosis type IIIA Collecting information on caregiver burden would help with documenting the impact of disease on caregivers and monitoring their well-being. This would, in turn, help identify the need for support services and evaluate outcomes of interventions, including. Harrington et al Journal of Patient-Reported Outcomes Disease Types Age of onset Life. Median 1.5 Mean age years [3] at death 4.2 years [4]
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