Dataset Information

Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study

ABSTRACT:

Background

Gaucher disease (GD), a rare lysosomal storage disorder, is associated with considerable patient and caregiver burden. We examined the applicability of existing caregiver questionnaires and assessed the level of burden in caregivers of patients with GD.

Methods

This cross-sectional, non-interventional study was conducted in Japan. Caregivers of patients with confirmed GD (any type) were recruited (patient association group and referral) for pre-testing (May 2021) or the main survey (October–December 2021). Caregivers completed the Caregiver Impact Questionnaire (CIQ; 30 items) and Zarit Caregiver Burden Interview (ZBI; 22 items) on paper. Total CIQ and ZBI scores and subscores were determined overall and by GD type. Inter-item correlations and test-retest reliability (2 rounds, 2 weeks apart) were calculated. The relationship between caregiving duration and caregiver burden was also analyzed.

Results

Nine caregivers (type 2 [GD2]: n = 6; type 3 [GD3]: n = 3) and 25 caregivers (type 1 [GD1]: n = 2; GD2: n = 17; GD3: n = 6) completed the pre-test and main survey, respectively. In the main survey, mean total CIQ score, all CIQ subscores (except emotional function), and total ZBI score were highest in caregivers of patients with GD2 compared with caregivers of patients with GD1/GD3. High test-retest reliability (Kappa >0.6) was observed for 15 CIQ items and 16 ZBI items. CIQ and ZBI scores appeared to be positively correlated with each other and negatively correlated with caregiving duration.

Conclusions

The CIQ and ZBI are applicable, reliable measures to assess burden in caregivers of patients with GD in Japan. Caregiver burden was highest in caregivers of patients with GD2 and decreased with caregiving duration. Highlights • Gaucher disease (GD) imposes substantial burden on patients and their caregivers.• CIQ and ZBI are applicable and reliable to assess caregiver burden for GD in Japan.• Burden was highest in caregivers of patients with type 2 GD than other GD types.• Caregiver burden decreased with caregiving duration in type 2 GD.

SUBMITTER: Koto Y

PROVIDER: S-EPMC10412861 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

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Project description:BackgroundGaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder that adversely affects life expectancy and health-related quality of life (HRQOL). Although HRQOL questionnaires are available for type 1 GD, they are not suitable for patients with the neuronopathic types 2 and 3 GD who have neurological symptoms that develop during early childhood or adolescence. Here we report the development of a language-validated HRQOL questionnaire specifically for patients with neuronopathic types 2 and 3 GD in Japan, which is the first step toward HRQOL questionnaire provision for all types of GD in the future.MethodsIn February and March 2021, semi-structured interviews were conducted by the authors (supported by qualified interviewers) with patients and/or their caregivers (for patients < 16 years old) who were recruited from a Japanese patient association, the Association of Gaucher Disease Patients in Japan. Qualitative analysis of interview transcripts was used to identify major themes and key topics within those themes. Hierarchical cluster analysis and co-occurrence network analysis were performed to map relationships between commonly occurring words. The study is registered at the UMIN Clinical Trials Registry ( https://www.umin.ac.jp/ctr/index.htm [UMIN000042872]).ResultsThree main themes emerged from qualitative analysis: treatment status, patient burden, and social support systems. Key topics within each theme included hearing impairment, visual impairment, difficulty swallowing, difficulty speaking, involuntary movement of extremities, epileptic seizures, and body aches (treatment status); anxiety about symptoms, difficulty with exercise and work, anxiety about continuing treatment, anxiety about going out, and tiredness from hospital visit or treatment (patient burden); and dissatisfaction about government service, lack of social support, and information exchange in the patient association (social support systems). Commonly used words and the relationships between words identified through the hierarchical cluster and co-occurrence network analyses supported these themes and topics.ConclusionsThe themes and topics identified in this analysis were specific to patients with types 2 and 3 GD and will be used to inform the development of a HRQOL questionnaire specifically for patients with all GD types.