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Health-related quality of life in children and adolescents living with Gaucher disease and their parents.

ABSTRACT: Objective: The health-related quality of life (HRQoL), clinical status and perceived burden of disease in children and adolescents with Gaucher Disease (GD) were assessed. Method: A Spanish multicenter collaboration study involving 13 hospitals was performed to evaluate pediatric patients with GD (n = 17, ages 5-18; n = 3, ages 2-4) and their parents (n = 20) using a HRQoL measure (PedsQL 4.0) and a survey on the perceived burden of the disease. Three children under five years old were evaluated by parent proxy-report. Relevant medical and socio-demographical characteristics were recorded. Results: Sixty-nine percent of the participants with GD had mild and 31% had moderate severity level, all receiving enzyme replacement therapy (ERT). HRQoL was associated with the severity score index and was adjusted for age. Age was related to school functioning (older patients had lower scores), and female patients reported worse school functioning than males. Symptoms such as bone, joint or abdominal pain, bleeding, and fatigue were negatively associated with HRQoL. Perceptions of the burden related to GD, such as feeling ill and feeling sad, were negatively associated with HRQoL. Although the PedsQL scores of children and parents showed concordance, patterns of association between symptoms and perceived burden differed between children and parents. No associations were observed between HRQoL scores and time on ERT or ERT dosage. Conclusion: HRQoL perceptions were affected by clinical status, observable and subjective symptoms, feelings of burden related to the disease, and patient characteristics (e.g. age and gender). Aspects of the disease that affect HRQoL may be perceived differently by children and parents.

SUBMITTER: Remor E

PROVIDER: S-EPMC8114346 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundThe diagnosis and health care of patients with rare diseases present a tremendous challenge worldwide. This study described the health care service utilization through participants' perspective and estimated the cost of illness (COI), and patients with Gaucher disease (GD)'s/caregivers' health-related quality of life in China.MethodAn online retrospective survey of patients with GD and their caregivers was conducted during May-June 2018. Socio-demographic, health service utilization, disease-related expenses, social support, sleep quality (Pittsburgh Sleep Quality Index [PSQI]), and the Short Form Health Survey (SF-36) were investigated. Using self-reported information, we estimated the annual COI, including direct healthcare, direct non-healthcare, and indirect costs.ResultsForty patients and their 49 caregivers were surveyed. The patients' onset age of GD was 9.3 ± 10.9; their disease course was 3.5 ± 3.1 years. 21 (42.9%) patients had ≥ 2 caregivers, but 35 (71.4%) caregivers reported have no experience as a caregiver. 79.6% caregivers have stopped working, and 87.8% changed weekly working schedule. Before final diagnosis, patients visited 3.9 ± 3.1 (max = 20) hospitals and took 1.2 ± 1.7 (max = 6.6) years for confirmed diagnosis. On average, 5.0 ± 9.6 misdiagnoses occurred, and the per-patient diagnoses cost was USD ($) 7576. After GD confirmation, 8 (16.3%) patients received no treatment, 40 (81.6%) received pharmacotherapy, 10 (20.4%) received surgery, 38 (77.6%) received outpatient service (8.8 ± 9.1 times/annually), and 37 (77.5%) received inpatient service (4.0 ± 3.5 times/annually). Annual per-patient COI was USD ($) 49,925 (95% confidence interval: 29,178, 70,672). Average direct healthcare cost was $41,816, including pharmaceutical ($29,908), inpatient ($7,451), and outpatient ($1,838). Productivity loss per-caregiver was $1,980, and their Zarit Burden Inventory score was moderate-severe (48.6 ± 19.6). Both patients/caregivers reported lower social support (32.4 ± 7.4, 34.9 ± 7.6), two times higher PSQI (7.9 ± 2.9, 8.7 ± 3.6), and half lower SF-36 (41.3 ± 18.6, 46.5 ± 19.3) than those reported for healthy Chinese individuals.ConclusionsThe high misdiagnosis rate, together with delayed diagnosis, substantial costs, and deteriorated health-related quality of life of GD patients as well as their heavy care burden, calls for extreme attention from policymakers in China. Further efforts of government and society are urgently demanded, including pharmaceutical reimbursement, screening newborns, developing precise diagnostic tools, and training doctors.

Project description:BackgroundCongenital heart disease (CHD) is the most common congenital anomaly at birth, affecting approximately 1% of live births. In recent decades great medical and surgical advances have significantly increased life expectancy, shifting healthcare professionals' and researchers' interests in patients' Quality of Life (QoL). The main aims of our study were to evaluate generic and condition-specific QoL in a group of Italian children and adolescents with CHD and their parents and examine the level of agreement and directional disagreement between child/adolescent and parents reports on generic and condition-specific QoL.MethodsA cross-sectional study was designed with CHD children and adolescents and their parents referred to the Cardiology Department of "Bambino Gesù" Children's Hospital. The PedsQL scale was used, including generic (PedsQL 4.0) and cardiac-specific modules (PedsQL 3.0) were administered to patients and caregivers. A Kruskal-Wallis test was used to compare generic and cardiac module scores between patients with different ages, CHD diagnoses, and between patients who underwent surgery interventions and/or are currently taking cardiac medications.Results498 families were enrolled in this study. On average, patients reported a good level of generic and condition-specific QoL, as well as their mothers and fathers. Children aged between 5-7 years old reported lower generic and cardiac-specific total QoL levels than children aged 8-12 years and adolescents (13-18 years). With regard to the agreement, patient-parent agreement on condition-specific QoL ranged from 25 to 75% while on generic QoL, it ranged from 19 to 76%. The highest percentage of disagreement between parents and children was found in patients aged 5-7 years old, both for condition-specific and generic QoL rates.ConclusionsOur study contributed to the growing body of knowledge on QoL in CHD, emphasizing the need for these families to receive support from multidisciplinary standardized care, including psychological consultations and support.

Project description:PURPOSE:This study aimed to examine health-related quality of life (HRQoL) of children and their parents, 6 months after the child's admission to the Pediatric Intensive Care Unit (PICU). Associations between parents' reports regarding HRQoL of their child and of themselves were investigated, as well as associations between children's baseline variables and their parent-reported HRQoL outcomes. METHODS:This is a secondary analysis of cross-sectional data collected in a group of children who participated in the PEPaNIC trial. Six months after discharge from the PICU, parents of critically ill children completed the Infant-Toddler Quality of Life Questionnaire (ITQOL, for age 0-3 years) or the Child Health Questionnaire-Parent Form 50 (CHQ-PF50, for age 4-18 years), which are parallel questionnaires. Parents completed the Short Form Health Survey (SF-12) regarding their own HRQoL. Results were compared with normative data. RESULTS:At 6 months' follow-up, 86 children of the 1343 (6%) had died which resulted in 1257 eligible children. Parents of 576 surviving children (46%) completed the questionnaires. Children of responding parents had less often an acute reason for admission and differed in diagnosis compared with children of non-responders. PICU children scored lower on most ITQOL (n = 390) scales and CHQ-PF50 (n = 186) scales compared with normative data. Parents reported (n = 570) higher scores on the physical (p < 0.001) and lower scores on the mental SF-12 scale (p < 0.001) compared with normative data. Parents̕ mental HRQoL correlated with HRQoL they reported for their child (Pearson Correlations range 0.25-0.57, p < 0.001-0.002). Shorter length of stay, lower risk of mortality, younger age, and cardiac diagnosis were associated with higher parent-reported HRQoL outcomes for the child. CONCLUSIONS:Six months after PICU discharge, critically ill children have lower HRQoL compared with normative data. The mental component of HRQoL is impaired in parents and is associated with lower overall parent-reported HRQoL of their child.

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Health-related quality of life in children and adolescents living with Gaucher disease and their parents.

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