PDF(Pubmed)
Abstract：
Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients\' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes. We aimed to determine whether any existing patient-reported outcome measures are appropriate for evaluating changes in appearance concerns within neurofibromatosis 1 clinical trials.
After updating our previously published systematic review process, we used it to identify and rate existing patient-reported outcome measures related to disfigurement and appearance. Using a systematic literature search and initial triage process, we focused on identifying patient-reported outcome measures that could be used to evaluate changes in appearance concerns in plexiform or cutaneous neurofibroma clinical trials in neurofibromatosis 1. Our revised Patient-Reported Outcome Rating and Acceptance Tool for Endpoints then was used to evaluate each published patient-reported outcome measures in five domains, including (1) respondent characteristics, (2) content validity, (3) scoring format and interpretability, (4) psychometric data, and (5) feasibility. The highest-rated patient-reported outcome measures were then re-reviewed in a side-by-side comparison to generate a final consensus recommendation.
Eleven measures assessing appearance concerns were reviewed and rated; no measures were explicitly designed to assess appearance concerns related to neurofibromatosis 1. The FACE-Q Craniofacial Module-Appearance Distress scale was the top-rated measure for potential use in neurofibromatosis 1 clinical trials. Strengths of the measure included that it was rigorously developed, included individuals with neurofibromatosis 1 in the validation sample, was applicable to children and adults, covered item topics deemed important by neurofibromatosis 1 patient representatives, exhibited good psychometric properties, and was feasible for use in neurofibromatosis 1 trials. Limitations included a lack of validation in older adults, no published information regarding sensitivity to change in clinical trials, and limited availability in languages other than English.
The Response Evaluation in Neurofibromatosis and Schwannomatosis patient-reported outcome working group currently recommends the FACE-Q Craniofacial Module Appearance Distress scale to evaluate patient-reported changes in appearance concerns in clinical trials for neurofibromatosis 1-related plexiform or cutaneous neurofibromas. Additional research is needed to validate this measure in people with neurofibromatosis 1, including older adults and those with tumors in various body locations, and explore the effects of nontumor manifestations on appearance concerns in people with neurofibromatosis 1 and schwannomatosis.
After updating our previously published systematic review process, we used it to identify and rate existing patient-reported outcome measures related to disfigurement and appearance. Using a systematic literature search and initial triage process, we focused on identifying patient-reported outcome measures that could be used to evaluate changes in appearance concerns in plexiform or cutaneous neurofibroma clinical trials in neurofibromatosis 1. Our revised Patient-Reported Outcome Rating and Acceptance Tool for Endpoints then was used to evaluate each published patient-reported outcome measures in five domains, including (1) respondent characteristics, (2) content validity, (3) scoring format and interpretability, (4) psychometric data, and (5) feasibility. The highest-rated patient-reported outcome measures were then re-reviewed in a side-by-side comparison to generate a final consensus recommendation.
Eleven measures assessing appearance concerns were reviewed and rated; no measures were explicitly designed to assess appearance concerns related to neurofibromatosis 1. The FACE-Q Craniofacial Module-Appearance Distress scale was the top-rated measure for potential use in neurofibromatosis 1 clinical trials. Strengths of the measure included that it was rigorously developed, included individuals with neurofibromatosis 1 in the validation sample, was applicable to children and adults, covered item topics deemed important by neurofibromatosis 1 patient representatives, exhibited good psychometric properties, and was feasible for use in neurofibromatosis 1 trials. Limitations included a lack of validation in older adults, no published information regarding sensitivity to change in clinical trials, and limited availability in languages other than English.
The Response Evaluation in Neurofibromatosis and Schwannomatosis patient-reported outcome working group currently recommends the FACE-Q Craniofacial Module Appearance Distress scale to evaluate patient-reported changes in appearance concerns in clinical trials for neurofibromatosis 1-related plexiform or cutaneous neurofibromas. Additional research is needed to validate this measure in people with neurofibromatosis 1, including older adults and those with tumors in various body locations, and explore the effects of nontumor manifestations on appearance concerns in people with neurofibromatosis 1 and schwannomatosis.
摘要：
目的：患有神经纤维瘤病1的个体可能由于疾病的身体表现和/或治疗后遗症而经历外观变化。与这些身体变化相关的外观问题可能导致心理困扰和生活质量较差。虽然许多神经纤维瘤病的临床试验集中在评估肿瘤体积的变化，评估患者对相应症状如外貌变化的看法可能是关键的次要结局.我们旨在确定是否有任何现有的患者报告的结局指标适用于评估神经纤维瘤病1临床试验中外观关注的变化。
方法：在更新了我们以前发表的系统评价过程之后，我们使用它来识别现有患者报告的与毁容和外观相关的结局指标并对其进行评分.使用系统的文献检索和初始分诊过程，我们专注于确定患者报告的结局指标,这些指标可用于评估神经纤维瘤病1的丛状或皮肤神经纤维瘤临床试验中外观关注的变化.我们修订后的患者报告结局评估和终点接受工具，然后用于评估五个领域的每个已发布的患者报告结局指标。包括(1)受访者特征，(2)内容有效性,(3)评分格式和可解释性,(4)心理测量数据，（5）可行性。然后在并排比较中重新审查最高评级的患者报告的结果指标，以生成最终的共识建议。
结果：对11项评估外观问题的措施进行了审查和评级；没有明确设计评估与神经纤维瘤病1相关的外观问题的措施。FACE-Q颅面模块-外观窘迫量表是神经纤维瘤病1临床试验中潜在用途的最高评价指标。该措施的优势包括严格制定，在验证样本中包括患有神经纤维瘤病1的个体，适用于儿童和成人，涵盖了神经纤维瘤病1名患者代表认为重要的项目主题，表现出良好的心理测量特性，并且在神经纤维瘤病1试验中使用是可行的。局限性包括老年人缺乏验证，没有关于临床试验对变化的敏感性的公开信息，英语以外的其他语言的可用性有限。
结论：神经纤维瘤病和神经鞘瘤病患者报告结果的反应评估工作组目前建议使用FACE-Q颅面模块外观困扰量表来评估患者报告的神经纤维瘤1相关丛状或皮肤神经纤维瘤的临床试验中外观关注的变化。需要更多的研究来验证神经纤维瘤病1患者的这一措施，包括老年人和不同身体部位的肿瘤患者。并探讨非肿瘤表现对1型神经纤维瘤病和神经鞘瘤病患者外观问题的影响。
方法：在更新了我们以前发表的系统评价过程之后，我们使用它来识别现有患者报告的与毁容和外观相关的结局指标并对其进行评分.使用系统的文献检索和初始分诊过程，我们专注于确定患者报告的结局指标,这些指标可用于评估神经纤维瘤病1的丛状或皮肤神经纤维瘤临床试验中外观关注的变化.我们修订后的患者报告结局评估和终点接受工具，然后用于评估五个领域的每个已发布的患者报告结局指标。包括(1)受访者特征，(2)内容有效性,(3)评分格式和可解释性,(4)心理测量数据，（5）可行性。然后在并排比较中重新审查最高评级的患者报告的结果指标，以生成最终的共识建议。
结果：对11项评估外观问题的措施进行了审查和评级；没有明确设计评估与神经纤维瘤病1相关的外观问题的措施。FACE-Q颅面模块-外观窘迫量表是神经纤维瘤病1临床试验中潜在用途的最高评价指标。该措施的优势包括严格制定，在验证样本中包括患有神经纤维瘤病1的个体，适用于儿童和成人，涵盖了神经纤维瘤病1名患者代表认为重要的项目主题，表现出良好的心理测量特性，并且在神经纤维瘤病1试验中使用是可行的。局限性包括老年人缺乏验证，没有关于临床试验对变化的敏感性的公开信息，英语以外的其他语言的可用性有限。
结论：神经纤维瘤病和神经鞘瘤病患者报告结果的反应评估工作组目前建议使用FACE-Q颅面模块外观困扰量表来评估患者报告的神经纤维瘤1相关丛状或皮肤神经纤维瘤的临床试验中外观关注的变化。需要更多的研究来验证神经纤维瘤病1患者的这一措施，包括老年人和不同身体部位的肿瘤患者。并探讨非肿瘤表现对1型神经纤维瘤病和神经鞘瘤病患者外观问题的影响。
