# The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden

## TL;DR

Caregivers of children with 22q11.2 deletion syndrome face significant quality of life and financial challenges, highlighting the need for better support systems.

## Contribution

This study provides empirical evidence on the specific impact of 22q11.2DS on caregiver quality of life and burden using validated tools in a Polish population.

## Key findings

- Financial well-being is the primary factor affecting caregivers' quality of life across all domains.
- Most caregivers reported significantly lower quality of life compared to the general population in physical and social domains.
- Professional activity positively impacts psychological quality of life and reduces caregiver burden.

## Abstract

Raising a child with 22q11.2DS presents significant psychosocial and financial challenges for caregivers for various reasons. Research on the quality of life (QoL) of caregivers for patients with rare diseases highlights significant challenges, with caregivers reporting lower health-related QoL compared to the general population. Long-term care impacts social, health, and economic aspects of life, with the burden on caregivers inversely correlating with their QoL, affecting mobility and daily activities. Parents often manage their child's complex medical care, underscoring the need for comprehensive support systems. An online survey was developed to examine the QoL and burden of caregivers for patients with 22q11.2DS. The study utilized two tools: the Polish version of the World Health Organization (WHO) Quality of Life-BREF and the Polish version of the Zarit Burden Interview.

The survey was completed by 134 Polish caregivers, including 125 women, with 52 not employed due to caregiving for 22q11.2DS patients. Financial security and expenditure ability were found to significantly impact all four WHOQOL Domains, with financial well-being emerging as the primary factor. Although other factors influence each Domain, financial well-being is key. The financial factor also appears in caregiver burden analysis, though not as the main influence on burden. Most caregivers rated their quality of life (QoL) significantly below the general population average: 85.1% reported below-average QoL in the Physical Domain, and 83.6% in the Social Relationships Domain. The study highlights strong correlations between WHOQOL Domains, suggesting substantial interconnections. Professional activity was shown to positively impact the Psychological Domain QoL and is crucial for reducing caregiver burden. Additionally, diagnostic delays continue to affect caregivers’ QoL negatively.

Efforts must be intensified to develop an efficient and rapid diagnostic system for 22q11.2DS. A comprehensive and holistic care system should be established to provide early and integrated support as soon as possible after birth. Psychological support for caregivers is essential, including both psychological and psychiatric assistance, respite care, and support from social institutions. This support should aim to relieve caregivers, allowing them time for themselves and the opportunity to pursue professional work if desired. Such measures can prevent feelings of exclusion and the perception that, despite being central to the care system for 22q11.2DS patients, their emotional and psychological needs are neglected by decision-makers. Targeted financial support should also be considered where necessary.