Barton Belinda, Wolters Pamela L, Walsh Karin S, Ullrich Nicole J, Rosser Tena, Tonsgard James, Viskochil David, Schorry Elizabeth, Klesse Laura J, Fisher Michael J, Gutmann David H, Packer Roger J, Korf Bruce, Acosta Maria T, North Kathryn N, Payne Jonathan M
Faculty of Health, Southern Cross University, Coffs Harbour, NSW, Australia.
Children's Hospital Education Research Institute, The Children's Hospital at Westmead, Sydney, NSW, Australia.
J Neurooncol. 2025 Jun 5. doi: 10.1007/s11060-025-05024-x.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition associated with cutaneous and neoplastic manifestations and other physical manifestations, as well as cognitive, psychosocial, and behavioural difficulties. NF1 negatively impacts the health-related quality of life (HRQoL) of children. There is limited evidence regarding the determinants of HRQoL of children with NF1. The aim of this study was to (i) compare the HRQoL of children with NF1 and cognitive impairments to published data of healthy children and children with cancer and (ii) identify specific determinants of child and parent-proxy reports of psychosocial HRQoL.
Children with NF1 and cognitive impairments (n = 135, 8-15 years 11 months) and their parents completed standardized measures assessing children's HRQoL, behavioral and emotional functioning. Children completed a brief intelligence test. Correlations and multiple linear regressions were conducted to identify determinants of psychosocial HRQoL.
Children with NF1 had significantly poorer HRQoL for all domains than published data of healthy children and significantly poorer HRQoL for Psychosocial Health, School and Social Functioning than published data of children with cancer. For child self-report, attention problems and increased social stress predicted their psychosocial HRQoL. For parent-proxy reports, activities of daily living and depression were significant predictors of children's psychosocial HRQoL. Social stress and depression were the strongest predictors of Psychosocial HRQoL.
Routine screening and early identification of depressive symptoms and interventions that promote social support, coping and resiliency may improve the HRQoL of children with NF1.
1型神经纤维瘤病（NF1）是一种常染色体显性遗传病，与皮肤和肿瘤表现以及其他身体表现相关，同时还伴有认知、心理社会和行为方面的困难。NF1对儿童的健康相关生活质量（HRQoL）产生负面影响。关于NF1患儿HRQoL的决定因素的证据有限。本研究的目的是：（i）将NF1患儿及有认知障碍的患儿的HRQoL与健康儿童和癌症患儿的已发表数据进行比较；（ii）确定儿童和家长代理报告的心理社会HRQoL的具体决定因素。
NF1患儿及有认知障碍的患儿（n = 135，年龄8至15岁11个月）及其父母完成了评估儿童HRQoL、行为和情绪功能的标准化测量。儿童完成了一项简短的智力测试。进行相关性和多元线性回归分析以确定心理社会HRQoL的决定因素。
NF1患儿在所有领域的HRQoL均显著低于健康儿童的已发表数据，在心理社会健康、学校和社会功能方面的HRQoL显著低于癌症患儿的已发表数据。对于儿童自我报告，注意力问题和社会压力增加可预测其心理社会HRQoL。对于家长代理报告，日常生活活动和抑郁是儿童心理社会HRQoL的重要预测因素。社会压力和抑郁是心理社会HRQoL的最强预测因素。
对抑郁症状进行常规筛查和早期识别，以及采取促进社会支持、应对能力和恢复力的干预措施，可能会改善NF1患儿的HRQoL。
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