PDF(Pubmed)
Abstract：
BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences.
OBJECTIVE: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1.
METHODS: This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05.
RESULTS: The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028).
CONCLUSIONS: Cross-sectional study, conducted with a convenience sample and using self-reported measures.
CONCLUSIONS: The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.
OBJECTIVE: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1.
METHODS: This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05.
RESULTS: The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028).
CONCLUSIONS: Cross-sectional study, conducted with a convenience sample and using self-reported measures.
CONCLUSIONS: The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.
摘要：
背景：1型神经纤维瘤病（NF1）是一种罕见的遗传性疾病，具有广泛的临床表现，特别是神经皮肤特征，这可能会导致情绪和身体上的后果。
目的：本研究评估了该疾病的社会人口统计学因素和临床特征对巴西NF1患者生活质量的影响。
方法：这是一项描述性横断面研究。使用巴西版本的NF1对生活质量的影响问卷（INF1-QoL）从101名NF1患者中收集数据，包含社会人口统计特征信息的表格，和NF1能见度自我评价量表。通过统计检验评估变量之间的关系，显著性水平定义为0.05。
结果：该研究包括101名18至59岁的NF1成年人，平均年龄35.54岁（±9.63），女性占主导地位（n=84，83.17％）。INF1-QoL平均总评分为10.62(±5.63),中位数为10，最小值为0，最大值为31分。参与者的两个特征与生活质量显着相关：教育水平（p=0.003）和NF1家族史（p=0.019）。INF1-QoL评分与疾病能见度之间存在统计学上显著的相关性(rho=0.218;p=0.028)。
结论：横断面研究，用方便的样本进行，并使用自我报告的措施。
结论：研究结果支持NF1对生活质量的显著影响。作者建议对患者进行多学科随访，坚持预期的临床护理措施，充分控制疼痛,心理援助,和遗传咨询。
目的：本研究评估了该疾病的社会人口统计学因素和临床特征对巴西NF1患者生活质量的影响。
方法：这是一项描述性横断面研究。使用巴西版本的NF1对生活质量的影响问卷（INF1-QoL）从101名NF1患者中收集数据，包含社会人口统计特征信息的表格，和NF1能见度自我评价量表。通过统计检验评估变量之间的关系，显著性水平定义为0.05。
结果：该研究包括101名18至59岁的NF1成年人，平均年龄35.54岁（±9.63），女性占主导地位（n=84，83.17％）。INF1-QoL平均总评分为10.62(±5.63),中位数为10，最小值为0，最大值为31分。参与者的两个特征与生活质量显着相关：教育水平（p=0.003）和NF1家族史（p=0.019）。INF1-QoL评分与疾病能见度之间存在统计学上显著的相关性(rho=0.218;p=0.028)。
结论：横断面研究，用方便的样本进行，并使用自我报告的措施。
结论：研究结果支持NF1对生活质量的显著影响。作者建议对患者进行多学科随访，坚持预期的临床护理措施，充分控制疼痛,心理援助,和遗传咨询。
