Dataset Information

Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.

ABSTRACT: Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015-2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (€300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs.

SUBMITTER: Gimenez-Lozano C

PROVIDER: S-EPMC9408677 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.

Gimenez-Lozano Cristina C Páramo-Rodríguez Lucía L Cavero-Carbonell Clara C Corpas-Burgos Francisca F López-Maside Aurora A Guardiola-Vilarroig Sandra S Zurriaga Oscar O

International journal of environmental research and public health 20220819 16

Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015-2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62 ...[more]

PMID: 36012000

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Project description:BackgroundThe COVID-19 pandemic is affecting many areas of life and has posed additional strains on the highly vulnerable group of caregivers of children with rare diseases (RDs). The psychosocial situation of the family caregivers deserves more attention, both in research and practice. The current study explores the distress level of caregivers of children with RDs, their psychosocial information needs, and caregiver-reported health-related quality of life (HRQoL) of children with RDs in times of the COVID-19 pandemic.MethodsData from a cross-sectional online survey conducted within the German CARE-FAM-NET project (children affected by rare diseases and their families-network) between March and August 2020 were examined. The study sample included 149 family caregivers, mostly mothers (83.2%) of 167 children with RDs. The survey assessed demographic and disease-related characteristics, distress and everyday problems of caregivers (Distress Thermometer for Parents; scale 0-10), psychosocial information needs (self-developed items; scale 0-100), and caregiver-reported HRQoL of the children with RDs (DISABKIDS Chronic Generic Measure, short-form; scale 0-100). Using descriptive statistics, we analyzed the psychosocial situation of families during the COVID-19 pandemic. We further conducted correlation analysis to investigate interrelations.ResultsThe distress level among caregivers was high (M = 6.84, SD = 2.43); 89.6% reported clinical distress (≥ 4). Everyday problems (e.g., sleep problems, fatigue, being out of shape, fears, feeling tense or nervous, and worry) were frequent. Caregivers reported a wide range of psychosocial information needs. In about half of the children (49.5%), caregiver-reported HRQoL was low, while average HRQoL (M = 58.7, SD = 19.5) was comparable to parent-reported norm data of children with severe clinical conditions. Distress correlated positively with psychosocial information needs (r = 0.40), and negatively with the caregiver-reported HRQoL of the children (r = - 0.46).ConclusionsThis study indicates a high psychosocial burden on family caregivers of children with RDs during the early COVID-19 pandemic, characterized by high distress levels and wide-ranging everyday problems, unmet psychosocial information needs, and reduced caregiver-reported HRQoL in children with RDs. The findings highlight the ongoing need for target group-specific, low-threshold support services (e.g., websites) during and after the pandemic.

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Dataset Information

Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.

Publications

Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.

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