Cavallo Nicola Davide, Maietta Paola, Perrotta Silverio, Moretta Pasquale, Carotenuto Marco, Esposito Maria, Santangelo Gabriella, Santoro Claudia
Department of Psychology, University of Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
Child and Adolescent Neuropsychiatry Clinic, Department of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Children (Basel). 2024 Aug 22;11(8):1033. doi: 10.3390/children11081033.
Neurofibromatosis type 1 (NF1) is a genetic disorder that affects multiple systems in the body, often leading to physical disfigurements and a wide range of clinical symptoms. This study aims to investigate the relationship between NF1 severity and visibility and the quality of life (QoL) in children.
The Pediatric Quality of Life Inventory (PedsQL) and a modified version of the Ablon scale were used to assess QoL and NF1 severity and visibility, respectively. Self-reported and parent-reported QoL scores were compared, and the associations between NF1 severity/visibility and QoL were explored.
Thirty-eight pediatric NF1 patients and their parents were enrolled. QoL scores did not differ significantly between patient self-reports and parent reports. However, correlational analyses revealed that higher NF1 severity was associated with lower physical QoL in patients, and greater NF1 visibility was linked to lower physical and social QoL. For parents, higher NF1 severity correlated with lower school functioning, whereas NF1 visibility did not show a significant correlation with QoL.
The severity and visibility of NF1 have distinct impacts on various aspects of QoL in children, highlighting the need for tailored interventions that address both physical and psychological challenges. These findings underscore the importance of comprehensive care approaches in managing NF1 in pediatric populations.
1型神经纤维瘤病（NF1）是一种影响身体多个系统的遗传性疾病，常导致身体畸形和广泛的临床症状。本研究旨在调查儿童NF1严重程度和可见度与生活质量（QoL）之间的关系。
分别使用儿童生活质量量表（PedsQL）和改良版的阿布朗量表评估生活质量以及NF1的严重程度和可见度。比较患者自我报告和家长报告的生活质量得分，并探讨NF1严重程度/可见度与生活质量之间的关联。
纳入了38名儿科NF1患者及其家长。患者自我报告和家长报告的生活质量得分无显著差异。然而，相关性分析显示，较高的NF1严重程度与患者较低的身体生活质量相关，而较高的NF1可见度与较低的身体和社会生活质量相关。对于家长而言，较高的NF1严重程度与较低的学校功能相关，而NF1可见度与生活质量无显著相关性。
NF1的严重程度和可见度对儿童生活质量的各个方面有不同影响，突出了针对身体和心理挑战采取量身定制干预措施的必要性。这些发现强调了综合护理方法在儿科人群NF1管理中的重要性。
