PDF(Pubmed)
Abstract：
BACKGROUND: 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.
RESULTS: 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.
CONCLUSIONS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：22q11.2缺失综合征（22q11.2DS）为受影响的个体带来了独特的医疗保健挑战，家庭,和医疗保健系统。尽管它很罕见,22q11.2DS是人类最常见的微缺失综合征，强调需要了解和解决受影响者的独特医疗保健要求。本文在巴西22q11.2DS的背景下，研究了卫生服务获取和护理人员生活质量的多方面问题，具有不同体征和症状的病症需要多学科护理。这项研究采用了一种综合方法来评估22q11.2DS个体的卫生服务可及性和护理人员的生活质量。它利用结构化调查和WHOQOL-bref问卷进行数据收集。
结果：患有22q11.2DS的患者在获得诊断后继续接受不完全的临床治疗，即使面对社会经济地位，使平均诊断年龄先于在更具代表性的巴西人口的样本组中发现（平均3.2岁对10岁，分别)。反过来,对22q11.2DS患者难以获得医疗服务的照顾会影响与照顾者居住环境相关的生活质量。
结论：获得的结果有助于弥合研究差距，了解如何照顾患有多系统临床疾病（如22q11.2DS和难以获得健康）的个体与巴西的生活质量方面交织在一起。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，以提高受该综合征影响的家庭的生活质量。
结果：患有22q11.2DS的患者在获得诊断后继续接受不完全的临床治疗，即使面对社会经济地位，使平均诊断年龄先于在更具代表性的巴西人口的样本组中发现（平均3.2岁对10岁，分别)。反过来,对22q11.2DS患者难以获得医疗服务的照顾会影响与照顾者居住环境相关的生活质量。
结论：获得的结果有助于弥合研究差距，了解如何照顾患有多系统临床疾病（如22q11.2DS和难以获得健康）的个体与巴西的生活质量方面交织在一起。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，以提高受该综合征影响的家庭的生活质量。
