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Abstract：
BACKGROUND: Plexiform neurofibromas (PN) are complex, benign nerve-sheath tumours that occur in 30-50% of patients with neurofibromatosis type 1 (NF1), a rare, genetic disorder. PN are associated with substantial, heterogeneous morbidities that impact health-related quality of life (HRQoL), including affecting motor function and causing pain, though HRQoL and work productivity data are scarce. This UK cross-sectional study explored HRQoL and work productivity in adult patients with NF1 PN and caregivers of paediatric patients.
METHODS: Adult patients and caregivers of paediatric patients self-enrolled in an online survey (March-April 2021). Outcomes included EQ-5D-5L, PROMIS® GH and INF1-QOL (adult patients only), and EQ-5D-5L, CarerQol and WPAI (caregivers only). Utilities were estimated from EQ-5D-5L responses using the UK crosswalk value set. Linear regression models explored univariable associations between adult patient characteristics and HRQoL.
RESULTS: Mean (± standard deviation) EQ-5D utility in adult patients with NF1 PN was 0.65 (± 0.29; n = 35; age-/sex-matched norm: 0.89 [± 0.04]). Moderate-extreme pain/discomfort and anxiety/depression were reported by 14/35 (40.0%) and 18/35 (51.4%) patients, respectively. Mean PROMIS® GH physical and mental health scores were 43.6 (± 9.19) and 41.7 (± 11.5; n = 35; matched norm: 50.0 [± 10.0]). Mean INF1-QOL score was 11.03 (± 6.02; n = 33). Chronic itching, at least one symptom, at least one comorbidity, PN location at extremities (arms/legs) and pain were associated with worse HRQoL scores. Mean caregiver EQ-5D utility was 0.72 (± 0.24; n = 8; age-/sex-matched norm: 0.88 [± 0.03]). Moderate pain/discomfort and moderate-severe anxiety/depression were reported by 4/8 (50.0%) and 2/8 (25.0%) caregivers, respectively. Mean CarerQol score was 69.3 (± 13.9; n = 8). Mean WPAI regular activity productivity loss was 36.3% (± 31.6%; n = 8).
CONCLUSIONS: NF1 PN worsens adult patient and caregiver HRQoL compared to the general population, notably affecting pain and discomfort, anxiety and depression and caregiver productivity.
METHODS: Adult patients and caregivers of paediatric patients self-enrolled in an online survey (March-April 2021). Outcomes included EQ-5D-5L, PROMIS® GH and INF1-QOL (adult patients only), and EQ-5D-5L, CarerQol and WPAI (caregivers only). Utilities were estimated from EQ-5D-5L responses using the UK crosswalk value set. Linear regression models explored univariable associations between adult patient characteristics and HRQoL.
RESULTS: Mean (± standard deviation) EQ-5D utility in adult patients with NF1 PN was 0.65 (± 0.29; n = 35; age-/sex-matched norm: 0.89 [± 0.04]). Moderate-extreme pain/discomfort and anxiety/depression were reported by 14/35 (40.0%) and 18/35 (51.4%) patients, respectively. Mean PROMIS® GH physical and mental health scores were 43.6 (± 9.19) and 41.7 (± 11.5; n = 35; matched norm: 50.0 [± 10.0]). Mean INF1-QOL score was 11.03 (± 6.02; n = 33). Chronic itching, at least one symptom, at least one comorbidity, PN location at extremities (arms/legs) and pain were associated with worse HRQoL scores. Mean caregiver EQ-5D utility was 0.72 (± 0.24; n = 8; age-/sex-matched norm: 0.88 [± 0.03]). Moderate pain/discomfort and moderate-severe anxiety/depression were reported by 4/8 (50.0%) and 2/8 (25.0%) caregivers, respectively. Mean CarerQol score was 69.3 (± 13.9; n = 8). Mean WPAI regular activity productivity loss was 36.3% (± 31.6%; n = 8).
CONCLUSIONS: NF1 PN worsens adult patient and caregiver HRQoL compared to the general population, notably affecting pain and discomfort, anxiety and depression and caregiver productivity.
摘要：
背景：丛状神经纤维瘤（PN）是复杂的，发生在30-50％的1型神经纤维瘤病（NF1）患者的良性神经鞘瘤，一种罕见的，遗传性疾病。PN与实质性相关，影响健康相关生活质量(HRQoL)的异质性发病率，包括影响运动功能和引起疼痛，尽管HRQoL和工作效率数据很少。这项英国横断面研究探讨了NF1PN成年患者和儿科患者护理人员的HRQoL和工作效率。
方法：成人患者和儿科患者的照顾者自行参加在线调查（2021年3月至4月）。结果包括EQ-5D-5L，PROMIS®GH和INF1-QOL（仅限成人患者），和EQ-5D-5L，CarerQol和WPAI（仅限护理人员）。公用事业是使用英国人行横道值集从EQ-5D-5L响应中估算的。线性回归模型探讨了成人患者特征与HRQoL之间的单变量关联。
结果：NF1PN成年患者的EQ-5D效用平均值（±标准差）为0.65（±0.29；n=35；年龄/性别匹配的标准：0.89[±0.04]）。14/35（40.0％）和18/35（51.4％）患者报告了中度极度疼痛/不适和焦虑/抑郁，分别。平均PROMIS®GH身体和心理健康评分分别为43.6（±9.19）和41.7（±11.5；n=35；匹配标准：50.0[±10.0]）。平均INF1-QOL评分为11.03(±6.02;n=33)。慢性瘙痒，至少有一个症状,至少有一种合并症，四肢（胳膊/腿）的PN位置和疼痛与HRQoL评分较差相关。平均护理人员EQ-5D效用为0.72（±0.24；n=8；年龄/性别匹配标准：0.88[±0.03]）。4/8（50.0％）和2/8（25.0％）护理人员报告了中度疼痛/不适和中重度焦虑/抑郁，分别。平均CarerQol评分为69.3(±13.9;n=8)。平均WPAI常规活动生产率损失为36.3％（±31.6％；n=8）。
结论：与普通人群相比，NF1PN使成年患者和照顾者的HRQoL恶化，特别是影响疼痛和不适，焦虑、抑郁和护理人员的生产力。
方法：成人患者和儿科患者的照顾者自行参加在线调查（2021年3月至4月）。结果包括EQ-5D-5L，PROMIS®GH和INF1-QOL（仅限成人患者），和EQ-5D-5L，CarerQol和WPAI（仅限护理人员）。公用事业是使用英国人行横道值集从EQ-5D-5L响应中估算的。线性回归模型探讨了成人患者特征与HRQoL之间的单变量关联。
结果：NF1PN成年患者的EQ-5D效用平均值（±标准差）为0.65（±0.29；n=35；年龄/性别匹配的标准：0.89[±0.04]）。14/35（40.0％）和18/35（51.4％）患者报告了中度极度疼痛/不适和焦虑/抑郁，分别。平均PROMIS®GH身体和心理健康评分分别为43.6（±9.19）和41.7（±11.5；n=35；匹配标准：50.0[±10.0]）。平均INF1-QOL评分为11.03(±6.02;n=33)。慢性瘙痒，至少有一个症状,至少有一种合并症，四肢（胳膊/腿）的PN位置和疼痛与HRQoL评分较差相关。平均护理人员EQ-5D效用为0.72（±0.24；n=8；年龄/性别匹配标准：0.88[±0.03]）。4/8（50.0％）和2/8（25.0％）护理人员报告了中度疼痛/不适和中重度焦虑/抑郁，分别。平均CarerQol评分为69.3(±13.9;n=8)。平均WPAI常规活动生产率损失为36.3％（±31.6％；n=8）。
结论：与普通人群相比，NF1PN使成年患者和照顾者的HRQoL恶化，特别是影响疼痛和不适，焦虑、抑郁和护理人员的生产力。
