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神经纤维瘤病 1 型青少年和年轻人:适应功能的描述性研究。

Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning.

机构信息

Clinical Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.

Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.

出版信息

Am J Med Genet A. 2022 Feb;188(2):488-497. doi: 10.1002/ajmg.a.62544. Epub 2021 Nov 3.

DOI:10.1002/ajmg.a.62544
PMID:34731530
Abstract

Neurofibromatosis type 1 (NF1) is a genetic syndrome affecting about 1 in 3500 individuals; many of those affected have plexiform neurofibroma (pNF) tumors and associated symptoms and complications. Furthermore, learning and attention problems, as well as deficits in adaptive functioning, are common, often beginning in early childhood. This study aimed to describe adaptive functioning and to examine relationships between adaptive functioning and cognitive and academic variables and level of independence among adolescents and young adults (AYA) with NF1 and pNF tumors. Fifty-five AYA aged 16-31 years participated in a series of neuropsychological evaluations while parents completed the Vineland Adaptive Behavior Scales (VABS-II) as part of a larger natural history study. Over one-third (35%) of AYA were neither in school nor employed. Mean VABS-II daily living and socialization scores were low average while mean Verbal and Performance IQ scores were average. VABS-II scores were positively correlated with processing speed, executive functioning, and working memory scores. Verbal IQ was the only significant predictor of work/school status. Identification of the correlates and predictors of adaptive functioning and life achievement can help guide healthcare providers with the early identification of risk factors and possible areas for intervention.

摘要

神经纤维瘤病 1 型(NF1)是一种影响大约每 3500 人中 1 人的遗传综合征;许多受影响的人都有丛状神经纤维瘤(pNF)肿瘤以及相关的症状和并发症。此外,学习和注意力问题以及适应功能缺陷很常见,通常从儿童早期开始。本研究旨在描述适应功能,并研究 NF1 和 pNF 肿瘤青少年和年轻成人(AYA)的认知和学术变量与独立性水平之间的关系。55 名年龄在 16-31 岁的 AYA 参加了一系列神经心理学评估,而父母则作为更大自然史研究的一部分完成了 Vineland 适应行为量表(VABS-II)。超过三分之一(35%)的 AYA 既不上学也不工作。平均 VABS-II 日常生活和社交评分处于中下水平,而平均言语和表现智商得分为中等。VABS-II 评分与处理速度、执行功能和工作记忆评分呈正相关。言语智商是工作/学校状况的唯一显著预测因素。确定适应功能和生活成就的相关性和预测因素可以帮助医疗保健提供者早期识别风险因素和可能的干预领域。

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引用本文的文献

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The Lack of Ad Hoc Neuropsychological Assessment in Adults with Neurofibromatosis: A Systematic Review.成人神经纤维瘤病患者缺乏临时神经心理学评估:一项系统评价。
J Clin Med. 2024 Mar 1;13(5):1432. doi: 10.3390/jcm13051432.
2
Perceived transition readiness among adolescents and young adults with neurofibromatosis type 1 and plexiform neurofibromas: a cross-sectional descriptive study.1型神经纤维瘤病和丛状神经纤维瘤青少年及青年患者对过渡准备状态的认知:一项横断面描述性研究
J Pediatr Psychol. 2024 Jun 13;49(6):383-391. doi: 10.1093/jpepsy/jsae006.
3
Development of a semi-automatic segmentation technique based on mean magnetic resonance imaging intensity thresholding for volumetric quantification of plexiform neurofibromas.
基于平均磁共振成像强度阈值化的半自动分割技术用于丛状神经纤维瘤体积定量分析的开发
Heliyon. 2023 Dec 9;10(1):e23445. doi: 10.1016/j.heliyon.2023.e23445. eCollection 2024 Jan 15.