Assessing the Burden of 22q11.2 Deletion Syndrome (22q11DS) at Family Level
Author(s)
Prerika Nehra, MPH1, Alexander Kuhlmann, PhD2.
1Medical Faculty, Martin Luther Universität Halle Wittenberg, Halle (Saale), Germany, 2Institut für Sozialmedizin und Epidemiologie, Universität zu Lübeck, Lübeck, Germany.
1Medical Faculty, Martin Luther Universität Halle Wittenberg, Halle (Saale), Germany, 2Institut für Sozialmedizin und Epidemiologie, Universität zu Lübeck, Lübeck, Germany.
OBJECTIVES: 22q11.2 deletion syndrome, affecting 1 in 4000 live births, impacts social functioning, often limits employment, and leads to isolation at family level. This study explores the resource utilization, Health-Related Quality of Life (HRQOL), and economic burden of the disease at family level.
METHODS: A survey of primary caregivers of patients of 22q11DS was conducted across Europe and North Americas. Data was analysed for demographic parameters, healthcare services utilization, HRQOL of patients and caregivers, out of pocket expenditures (OOPE) and other indirect costs. The data on HRQOL was collected using EQ-5D questionnaire and analysed using respective country value sets whereas OOPEs were estimated using a bottom-up approach.
RESULTS: Data from 61 participants reported the most common investigations as blood tests followed by X-Rays/CT/MRI scans in past three months. The patients primarily visited cardiologists and dentists most often. The average HRQOL utility scores for caregivers were 0.80 and 0.81 for patients as a proxy reported by caregivers. The average OOPE for the disease over the past three months was around 1050 Euros, with the largest share spent on professional caregivers and medical tests. Of the 64% of participants who were employed, 41% reported reducing their working hours due to child’s illness, averaging 16.3 fewer hours per week. This reduction in employment estimates indirect costs of approximately €400 per week. In addition, caregivers reported dedicating an average of 22.4 hours per week exclusively to patient care, corresponding to an unpaid workload valued at approximately €550 per week. Only 20% of caregivers report receiving economic compensation for the care provided.
CONCLUSIONS: The high burden of 22q11DS, including significant wage loss and reduced quality of life for both patients and caregivers, highlights the urgent need for support at family level. Given the study's limited sample size, more comprehensive research on the disease’s economic impact is essential.
METHODS: A survey of primary caregivers of patients of 22q11DS was conducted across Europe and North Americas. Data was analysed for demographic parameters, healthcare services utilization, HRQOL of patients and caregivers, out of pocket expenditures (OOPE) and other indirect costs. The data on HRQOL was collected using EQ-5D questionnaire and analysed using respective country value sets whereas OOPEs were estimated using a bottom-up approach.
RESULTS: Data from 61 participants reported the most common investigations as blood tests followed by X-Rays/CT/MRI scans in past three months. The patients primarily visited cardiologists and dentists most often. The average HRQOL utility scores for caregivers were 0.80 and 0.81 for patients as a proxy reported by caregivers. The average OOPE for the disease over the past three months was around 1050 Euros, with the largest share spent on professional caregivers and medical tests. Of the 64% of participants who were employed, 41% reported reducing their working hours due to child’s illness, averaging 16.3 fewer hours per week. This reduction in employment estimates indirect costs of approximately €400 per week. In addition, caregivers reported dedicating an average of 22.4 hours per week exclusively to patient care, corresponding to an unpaid workload valued at approximately €550 per week. Only 20% of caregivers report receiving economic compensation for the care provided.
CONCLUSIONS: The high burden of 22q11DS, including significant wage loss and reduced quality of life for both patients and caregivers, highlights the urgent need for support at family level. Given the study's limited sample size, more comprehensive research on the disease’s economic impact is essential.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
PCR21
Topic
Economic Evaluation, Health Policy & Regulatory, Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Rare & Orphan Diseases