PDF(Pubmed)
Abstract：
BACKGROUND: The high prevalence of endogamy, or inbreeding, in northeastern Brazil, is due to historical and cultural factors, with large families living in cities far from the coast and subject to low socioeconomic and infrastructure levels. This breeding practice results in low genetic variability with an increased prevalence of rare autosomal recessive and neurodegenerative diseases, such as spinal muscular atrophy (SMA).
OBJECTIVE: Understanding the impact of communicating the diagnosis of SMA on the mental health of patients and their families and the differences between the Northeast (endogamous region) and the other regions of Brazil (non-endogamous ones).
METHODS: Cross-sectional study obtained through a structured questionnaire about the moment of receiving the SMA diagnosis, containing the Impact of Event Scale-Revised.
CONCLUSIONS: The sample consisted of 100 volunteers from all regions of Brazil, 47 patients diagnosed with SMA and 53 family members present at the time of the diagnosis. There was a predominance of females (83%) and homogeneity between the groups for the variables gender, age, color, education, religion, and SMA subtype (1, 2, 3, and 4). The Northeast region, representing 43% of the sample, despite being less economically favored, showed greater satisfaction with medical care and inclusion in health services, with less self-reported psychological trauma and fewer signs of post-traumatic stress disorder (PTSD) related to the moment of receiving the diagnosis. The non-endogamous regions, in turn, reported the presence of strong waves of emotion, sleep problems, feelings of irritability, anger, and the presence of bad thoughts related to this situation.
CONCLUSIONS: The feeling of inclusion in health services and satisfaction with medical care in the endogamous region had a positive impact on the mental health of those involved, reducing psychological trauma and signs of PTSD arising from the communication of the SMA diagnosis.
OBJECTIVE: Understanding the impact of communicating the diagnosis of SMA on the mental health of patients and their families and the differences between the Northeast (endogamous region) and the other regions of Brazil (non-endogamous ones).
METHODS: Cross-sectional study obtained through a structured questionnaire about the moment of receiving the SMA diagnosis, containing the Impact of Event Scale-Revised.
CONCLUSIONS: The sample consisted of 100 volunteers from all regions of Brazil, 47 patients diagnosed with SMA and 53 family members present at the time of the diagnosis. There was a predominance of females (83%) and homogeneity between the groups for the variables gender, age, color, education, religion, and SMA subtype (1, 2, 3, and 4). The Northeast region, representing 43% of the sample, despite being less economically favored, showed greater satisfaction with medical care and inclusion in health services, with less self-reported psychological trauma and fewer signs of post-traumatic stress disorder (PTSD) related to the moment of receiving the diagnosis. The non-endogamous regions, in turn, reported the presence of strong waves of emotion, sleep problems, feelings of irritability, anger, and the presence of bad thoughts related to this situation.
CONCLUSIONS: The feeling of inclusion in health services and satisfaction with medical care in the endogamous region had a positive impact on the mental health of those involved, reducing psychological trauma and signs of PTSD arising from the communication of the SMA diagnosis.
摘要：
背景：内婚的高患病率，或者近亲繁殖，在巴西东北部，是由于历史和文化因素，大家庭生活在远离海岸的城市，社会经济和基础设施水平较低。这种育种实践导致低遗传变异性，罕见的常染色体隐性遗传和神经退行性疾病的患病率增加。例如脊髓性肌萎缩症(SMA)。
目的：了解SMA诊断对患者及其家庭心理健康的影响，以及东北（内婚地区）和巴西其他地区（非内婚地区）之间的差异。
方法：通过结构化问卷获得的关于接受SMA诊断的那一刻的横断面研究，包含事件规模的影响-修订。
结论：样本由来自巴西所有地区的100名志愿者组成，诊断时出现SMA的47例患者和53名家庭成员。在变量性别方面，女性占主导地位(83%)和群体之间的同质性，年龄,颜色,教育,宗教,和SMA亚型(1、2、3和4)。东北地区,占样本的43%，尽管在经济上不太受欢迎，对医疗保健和纳入卫生服务表现出更高的满意度，与接受诊断的时刻相关的自我报告的心理创伤较少，创伤后应激障碍（PTSD）的迹象也较少。非内婚区域，反过来,报告了强烈的情感波的存在，睡眠问题,烦躁的感觉，愤怒,以及与这种情况有关的不良想法的存在。
结论：内婚地区纳入卫生服务的感觉和对医疗服务的满意度对相关人员的心理健康产生了积极影响，减少由SMA诊断的沟通引起的心理创伤和创伤后应激障碍的迹象。
目的：了解SMA诊断对患者及其家庭心理健康的影响，以及东北（内婚地区）和巴西其他地区（非内婚地区）之间的差异。
方法：通过结构化问卷获得的关于接受SMA诊断的那一刻的横断面研究，包含事件规模的影响-修订。
结论：样本由来自巴西所有地区的100名志愿者组成，诊断时出现SMA的47例患者和53名家庭成员。在变量性别方面，女性占主导地位(83%)和群体之间的同质性，年龄,颜色,教育,宗教,和SMA亚型(1、2、3和4)。东北地区,占样本的43%，尽管在经济上不太受欢迎，对医疗保健和纳入卫生服务表现出更高的满意度，与接受诊断的时刻相关的自我报告的心理创伤较少，创伤后应激障碍（PTSD）的迹象也较少。非内婚区域，反过来,报告了强烈的情感波的存在，睡眠问题,烦躁的感觉，愤怒,以及与这种情况有关的不良想法的存在。
结论：内婚地区纳入卫生服务的感觉和对医疗服务的满意度对相关人员的心理健康产生了积极影响，减少由SMA诊断的沟通引起的心理创伤和创伤后应激障碍的迹象。
