Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome

Abstract

Background: Cri du Chat syndrome (CdC) is a rare disease caused by the deletion on the short arm of the chromosome 5, with an incidence of 1:15,000 to 1:50,000 live-born infants. No study at international level has assessed the costs, Quality of Life (QoL) and Disability through standardized quantitative tools. The aim is to estimate economic costs related to CdC from a societal perspective, to assess the QoL and Disability in patients with CdC along with their caregivers in Italy. Methods: A cross-sectional study of patients with Cri du Chat in Italy was carried out. A cost of illness approach from a societal perspective was used to estimate cost, and a micro-costing method was adopted. The QoL was measured with EuroQol 5-domain (EQ-5D) questionnaire and Disability by using World Health Organization Disability Assessment Schedule 36 item (WHODAS 2.0). Results: A total of 76 questionnaires were collected from caregivers taking care of 40 adult patients and 36 minor patients. All patients need a carer and the principal caregiver is commonly informal carer or a family member (93%). The EQ-5D VAS score for patients is 65.5 (SD = 22.4) out of 100; while the most important compromised areas of QoL are usual activities and self-care. The overall WHODAS 2.0 score is 65% (0 = no disability; 100 = full disability). The average annual cost of a patient with Cri du Chat in our population is €87,856.24; the main cost item of patients with Cri du Chat syndrome is informal care (i.e., €76,981.69 yearly) since it constitutes the 87% of total costs. Results highlight the burden of CdC in terms of its impact on QoL and Disability for patients and caregivers in Italy, with a score much lower than that of general population. The disease is associated with considerable costs of informal care. Conclusions: Cri du Chat syndrome was found to be linked with a significant socioeconomic impact which is dominated by direct non-healthcare informal costs.

Associations of Cognitive Complaints and Depressive Symptoms with Health-Related Quality of Life and Perceived Overall Health in Japanese Adult Volunteers

“…In addition, HRQoL, perceived overall health, and subjective well-being are all important goals in mental health. Recently, cost-effectiveness has been emphasized when considering interventions for HRQoL [12][13][14][15][36][37][38]. Regarding the mental health care system, care managers may play important roles in improving HRQoL and reducing the cost of illness because they are considered to be key health care collaborators in the primary health care system [39].…”

“…Unfortunately, HRQoL is considered difficult to improve through medical intervention [11]. Previous studies reported some factors that affect HRQoL [12][13][14][15], and recent studies have emphasized the associations of depressive symptoms and cognitive complaints with HRQoL not only in individuals with mental illness but also in healthy individuals [7,8,16,17]. However, to our knowledge, how depressive symptoms and cognitive complaints are associated with HRQoL in Japanese adults remains relatively unknown.…”

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

“…The data were analyzed and interpreted using conventional content analysis techniques, while the outline of the ecosystemic approach was derived from the focus group discussions and literature review [ 1 , 2 , 6 , 7 , 8 , 9 , 10 , 11 , 14 , 15 , 16 , 17 ]. The content analysis involves the coding of the key claims associated with distinct constructs highlighted by the focus group participants [ 18 , 19 ].…”

“…In 80% of cases, they are of a genetic origin; in 70% of cases they affect children; and they are often incurable, advancing and life-threatening [ 1 ]. It is discernible that the wide-ranging difficulties confronted by healthcare systems in handling RDs extend to several factors, which pose major challenges for national governments [ 7 ]. The integration of these factors in a new intelligible and efficient structure necessitates innovative changes to the current setting in the field of RDs.…”

Drafting a blueprint for the design of a rare disease ecosystem in Slovenia: Identifying salient opportunities and outlining policy recommendations

“…Patients with RDs typically face late diagnosis, long-lasting and expensive treatment (if medication is even available), and social consequences [ 10 ]. For individuals affected by these largely unpreventable diseases, a comprehensive public health care approach, including the establishment of an operative RD ecosystem, would entail an important opportunity for more coherent and effective medical treatment [ 5 ].…”