BACKGROUND/AIMS Individuals with neurofibromatosis, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2)-related schwannomatosis (SWN), and other forms of SWN, often experience disease manifestations and mental health difficulties for which psychosocial interventions may help. An anonymous online survey of adults with neurofibromatosis assessed their physical, social, and emotional well-being and preferences about psychosocial interventions to inform clinical trial design. METHODS Neurofibromatosis clinical researchers and patient representatives from the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration developed the survey. Eligibility criteria included age ≥ 18 years, self-reported diagnosis of NF1, NF2, or SWN, and ability to read and understand English. The online survey was distributed internationally by the Neurofibromatosis Registry and other neurofibromatosis foundations from June to August 2020. RESULTS Surveys were completed by 630 adults (18-81 years of age; M = 45.5) with NF1 (78%), NF2 (14%), and SWN (8%) who were mostly White, not Hispanic/Latino, female, and from the United States. The majority (91%) reported that their neurofibromatosis symptoms had at least some impact on daily life. In the total sample, 51% endorsed a mental health diagnosis, and 27% without a diagnosis believed they had an undiagnosed mental health condition. Participants indicated that neurofibromatosis affected their emotional (44%), physical (38%), and social (35%) functioning to a high degree. Few reported ever having participated in a drug (6%) or psychosocial (7%) clinical trial, yet 68% reported they "probably" or "definitely" would want to participate in a psychosocial trial if it targeted a relevant concern. Top treatment targets were anxiety, healthier lifestyle, and daily stress. Top barriers to participating in psychosocial trials were distance to clinic, costs, and time commitment. Respondents preferred interventions delivered by clinicians via individual sessions or a combination of group and individual sessions, with limited in-person and mostly remote participation. There were no significant group differences by neurofibromatosis type in willingness to participate in psychosocial trials (p = 0.27). Regarding interest in intervention targets, adults with SWN were more likely to prefer psychosocial trials for pain support compared to those with NF1 (p < 0.001) and NF2 (p < 0.001). CONCLUSION This study conducted the largest survey assessing physical symptoms, mental health needs, and preferences for psychosocial trials in adults with neurofibromatosis. Results indicate a high prevalence of disease manifestations, psychosocial difficulties, and untreated mental health problems in adults with neurofibromatosis and a high degree of willingness to participate in psychosocial clinical trials. Patient preferences should be considered when designing and implementing psychosocial interventions to develop the most feasible and meaningful studies.

中文翻译：

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患有神经纤维瘤病的成人对心理社会试验设计的看法：匿名在线调查的结果。

背景/目的 神经纤维瘤病患者，包括神经纤维瘤病 1 (NF1)、神经纤维瘤病 2 (NF2) 相关神经鞘瘤病 (SWN) 和其他形式的 SWN，经常经历疾病表现和心理健康困难，心理社会干预可能会有所帮助。一项针对神经纤维瘤病成人的匿名在线调查评估了他们的身体、社会和情感健康以及对心理社会干预的偏好，为临床试验设计提供信息。方法 来自神经纤维瘤病反应评估和神经鞘瘤病国际合作组织的神经纤维瘤病临床研究人员和患者代表开展了这项调查。资格标准包括年龄 ≥ 18 岁、自我报告的 NF1、NF2 或 SWN 诊断，以及阅读和理解英语的能力。该在线调查由神经纤维瘤病登记处和其他神经纤维瘤病基金会于 2020 年 6 月至 8 月在全球范围内分发。 结果 630 名成年人（18-81 岁；M = 45.5）完成了调查，其中 NF1（78%）、NF2（14%） ）和 SWN（8%），他们大多是白人，而不是西班牙裔/拉丁裔，女性，来自美国。大多数人（91%）报告说，他们的神经纤维瘤病症状至少对日常生活产生了一些影响。在总样本中，51% 的人认可心理健康诊断，27% 没有诊断的人认为自己患有未确诊的心理健康状况。参与者表示，神经纤维瘤病在很大程度上影响了他们的情绪（44%）、身体（38%）和社交（35%）功能。很少有人报告曾参加过药物 (6%) 或心理社会 (7%) 临床试验，但 68% 的人表示，如果针对相关问题，他们“可能”或“肯定”希望参加心理社会试验。最重要的治疗目标是焦虑、更健康的生活方式和日常压力。参与心理社会试验的最大障碍是距诊所的距离、费用和时间投入。受访者更喜欢由临床医生通过单独会议或小组和个人会议相结合的方式提供干预措施，现场参与有限且大多是远程参与。神经纤维瘤病类型在参与心理社会试验的意愿方面没有显着的组间差异（p = 0.27）。关于干预目标的兴趣，与 NF1 (p < 0.001) 和 NF2 (p < 0.001) 的成年人相比，患有 SWN 的成年人更有可能更喜欢心理社会试验来支持疼痛。结论 这项研究进行了最大规模的调查，评估了神经纤维瘤病成人的身体症状、心理健康需求和心理社会试验偏好。结果表明，神经纤维瘤病成人的疾病表现、心理社会困难和未经治疗的心理健康问题的患病率很高，并且参与心理社会临床试验的意愿很高。