Neurofibromatosis type 1 (NF1) is a genetic condition characterized by numerous somatic manifestations. The psychosocial burden in adults has rarely been studied. We examined the prevalence of self‐reported impairment of quality of life (QoL), symptoms of anxiety and depression and need for support, associated with disease severity and visibility. We conducted a nationwide cross‐sectional study of all 467 adults with NF1 diagnosed between 1977 and 2016 at one of the two national centers for rare diseases in Denmark. A total of 244 (56% response rate) completed a questionnaire that included standard measures of QoL, symptoms of depression and anxiety, indicators of disease‐related severity, visibility, and need for professional support. Associations between disease severity and visibility and psychosocial burden were analyzed in descriptive and multivariate models. We observed impaired QoL (mean = 81.3; 95% CI, 76.2; 86.4); 19% reported symptoms of depression (mean = 5.7; SD = 5.4), and 15% reported anxiety (mean = 5.1; SD = 5.2) at a clinical level. Adults with NF1 also reported requiring professional support for physical, psychological, and work‐related problems. Disease severity and (partly) visibility were significantly (p  < .0001) associated with psychosocial well‐being and a requirement for support. This study provides new understanding of the factors associated with impaired QoL, indicating that follow‐up care should be optimized into adult life.

中文翻译：

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成人1型神经纤维瘤病的临床特征和生活质量，抑郁和焦虑的状态，一项全国性研究。

1型神经纤维瘤病（NF1）是一种遗传性疾病，其特征是多种躯体表现。成人的社会心理负担很少被研究。我们检查了自我报告的生活质量损害（QoL），焦虑和抑郁症状以及需要支持的患病率，这些疾病与疾病的严重程度和可见度相关。我们在丹麦两个国家级罕见病中心之一对1977年至2016年间被诊断出的所有467名NF1成年人进行了全国性的横断面研究。总计244个（56％的回应率）完成了一份问卷，其中包括QoL的标准测量，抑郁和焦虑症状，与疾病相关的严重程度，可见度和需要专业支持的指标。在描述性和多变量模型中分析了疾病严重性和可见性与社会心理负担之间的关联。我们观察到QoL受损（平均值= 81.3; 95％CI，76.2; 86.4）; 19％的人报告有抑郁症状（平均值= 5.7;SD = 5.4），在临床水平上有15％的患者报告焦虑（平均= 5.1；SD = 5.2）。患有NF1的成年人还报告说需要针对身体，心理和工作相关问题的专业支持。疾病的严重程度和（部分）可见度显着（p  <.0001）与社会心理健康和支持需求有关。这项研究对与QoL受损相关的因素提供了新的认识，表明应该在成人生活中优化随访护理。