Department of Translational Medicine, Medical Genetics and Genomic Medicine Area, Universidade Estadual de Campinas (Unicamp), Tessália Vieira de Camargo Street, 126, Campinas, Sao Paulo, SP, 13083-887, Brazil.
Orphanet J Rare Dis. 2024 Jul 6;19(1):255. doi: 10.1186/s13023-024-03273-z.
The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emphasizing the need to understand and address the distinctive healthcare requirements of those affected. This paper examines the multifaceted issue of health service access and caregivers' quality of life in the context of 22q11.2 DS in Brazil, a condition with diverse signs and symptoms requiring multidisciplinary care. This study employs a comprehensive approach to evaluate health service accessibility and the quality of life of caregivers of individuals with 22q11.2 DS. It utilizes a structured Survey and the WHOQOL-bref questionnaire for data collection.
Individuals with 22q11.2 DS continue to receive incomplete clinical management after obtaining the diagnosis, even in the face of socioeconomic status that enabled an average age of diagnosis that precedes that found in sample groups that are more representative of the Brazilian population (mean of 3.2 years versus 10 years, respectively). In turn, caring for individuals with 22q11.2 DS who face difficulty accessing health services impacts the quality of life associated with the caregivers' environment of residence.
Results obtained help bridge the research gap in understanding how caring for individuals with multisystem clinical conditions such as 22q11.2 DS and difficulties in accessing health are intertwined with aspects of quality of life in Brazil. This research paves the way for more inclusive healthcare policies and interventions to enhance the quality of life for families affected by this syndrome.
22q11.2 缺失综合征（22q11.2 DS）给受影响个体、家庭和医疗保健系统带来了独特的医疗保健挑战。尽管它很罕见，但 22q11.2 DS 是人类最常见的微缺失综合征之一，这强调了需要理解和解决受影响者独特的医疗保健需求。本文探讨了巴西 22q11.2 DS 背景下医疗服务获取和照顾者生活质量的多方面问题，这种病症具有多种不同的体征和症状，需要多学科护理。本研究采用综合方法评估 22q11.2 DS 个体的医疗服务可及性和照顾者的生活质量。它使用结构化调查和 WHOQOL-bref 问卷进行数据收集。
即使在社会经济地位允许平均诊断年龄早于更能代表巴西人口的样本组（分别为平均 3.2 岁和 10 岁）的情况下，22q11.2 DS 个体在获得诊断后仍继续接受不完全的临床管理。反过来，照顾难以获得医疗服务的 22q11.2 DS 个体会影响与照顾者居住环境相关的生活质量。
研究结果有助于弥合理解照顾 22q11.2 DS 等多系统临床病症个体以及在巴西与获得医疗服务相关的困难如何与生活质量交织在一起的研究空白。这项研究为更具包容性的医疗保健政策和干预措施铺平了道路，以提高受这种综合征影响的家庭的生活质量。
