Walkowiak Dariusz, Domaradzki Jan
Department of Organization and Management in Health Care, Poznan University of Medical Sciences, św. Marii Magdaleny 14, 61-786, Poznan, Poland.
Department of Social Sciences and Humanities, Poznan University of Medical Sciences, Poznan, Poland.
Orphanet J Rare Dis. 2025 Jun 1;20(1):264. doi: 10.1186/s13023-025-03790-5.
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.
由于多种原因，抚养患有22q11.2缺失综合征（22q11.2DS）的孩子给照料者带来了重大的心理社会和经济挑战。对罕见病患者照料者生活质量（QoL）的研究凸显了重大挑战，照料者报告称其与健康相关的生活质量低于普通人群。长期照料会影响生活的社会、健康和经济方面，照料者的负担与他们的生活质量呈负相关，影响其行动能力和日常活动。父母通常要管理孩子复杂的医疗护理，这突出了建立全面支持系统的必要性。开展了一项在线调查，以研究22q11.2DS患者照料者的生活质量和负担。该研究使用了两种工具：世界卫生组织（WHO）生活质量简表（BREF）的波兰语版本和Zarit照料负担访谈的波兰语版本。
134名波兰照料者完成了调查，其中包括125名女性，52人因照料22q11.2DS患者而未就业。研究发现，财务安全和支出能力对世界卫生组织生活质量四个领域均有显著影响，财务状况是主要因素。虽然其他因素也会影响每个领域，但财务状况是关键。财务因素也出现在照料者负担分析中，不过并非负担的主要影响因素。大多数照料者对其生活质量的评分显著低于普通人群平均水平：85.1%的人报告身体领域生活质量低于平均水平，83.6%的人报告社会关系领域生活质量低于平均水平。该研究强调了世界卫生组织生活质量各领域之间的强相关性，表明存在大量相互联系。职业活动对心理领域生活质量有积极影响，对减轻照料者负担至关重要。此外，诊断延迟继续对照料者的生活质量产生负面影响。
必须加大力度为22q11.2DS开发高效快速的诊断系统。应建立一个全面、整体的护理系统，以便在出生后尽快提供早期和综合支持。对照料者的心理支持至关重要，包括心理和精神援助、临时护理以及社会机构的支持。这种支持应旨在减轻照料者的负担，让他们有自己的时间，并在需要时能够从事专业工作。这些措施可以防止产生被排斥的感觉，以及认为尽管自己是22q11.2DS患者护理系统的核心，但决策者却忽视了他们的情感和心理需求的看法。必要时还应考虑有针对性的财政支持。
