Neurofibromatosis review with focus on rehabilitation intervention

IF 2.5 4区医学 Q1 PEDIATRICS

Current Problems in Pediatric and Adolescent Health Care Pub Date : 2025-11-01 Epub Date: 2025-11-29 DOI:10.1016/j.cppeds.2025.101886

Mi Ran Shin MD, MPH , Mackenzie Brown MD , Benjamin Siegel MD , Sinan Turnacioglu MD

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引用次数: 0

Abstract

Neurofibromatosis Type 1 (NF1) is a complex, multisystem genetic disorder characterized by cutaneous, neurologic, orthopedic, and cognitive manifestations. Affecting approximately 1 in 3000 individuals worldwide, NF1 has a variable phenotype, but children commonly present with a combination of cognitive impairment, learning disabilities, attention-deficit/hyperactivity disorder (ADHD), motor coordination deficits, behavioral challenges, chronic pain, and orthopedic complications. Functional impairments often manifest in both gross and fine motor domains, with gait abnormalities, hypotonia, and reduced endurance. Chronic pain, especially related to plexiform neurofibromas, further impacts quality of life and is associated with neuronal hyperexcitability in the context of neurofibromin deficiency. Rehabilitation plays a critical role in improving function and quality of life by integrating interdisciplinary therapies, educational support, family education, and individualized goal-setting. A comprehensive approach is essential for identifying and managing the diverse impairments associated with NF1 across developmental stages.

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神经纤维瘤病综述，重点是康复干预。

1型神经纤维瘤病（NF1）是一种复杂的多系统遗传性疾病，以皮肤、神经、骨科和认知表现为特征。在全球范围内，每3000人中就有1人感染NF1， NF1具有可变的表型，但儿童通常表现为认知障碍、学习障碍、注意力缺陷/多动障碍（ADHD）、运动协调缺陷、行为挑战、慢性疼痛和骨科并发症。功能损伤通常表现在粗大和精细运动领域，步态异常，张力低下和耐力降低。慢性疼痛，特别是与丛状神经纤维瘤有关的慢性疼痛，进一步影响生活质量，并与神经纤维蛋白缺乏的情况下神经元的高兴奋性有关。通过跨学科治疗、教育支持、家庭教育和个性化目标设定，康复在改善功能和生活质量方面发挥着关键作用。一个综合的方法对于识别和管理不同发育阶段与NF1相关的各种损伤是必不可少的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Problems in Pediatric and Adolescent Health Care PEDIATRICS-

CiteScore

4.60

自引率

0.00%

发文量

审稿时长

5 days

期刊介绍： Recognized for its probing, comprehensive, and evidence-based reviews, Current Problems in Pediatric and Adolescent Health Care devotes each issue to a timely and practical topic in pediatric medicine, presented by leading authorities in the field. The journal offers readers easily accessible information that enhances professional experience and is pertinent to daily pediatric practice. Each issue''s review article is accompanied by an additional special feature designed to highlight a particular aspect of the topic presented.