Behavioural and cognitive phenotypes in children with neurofibromatosis type 1 (NF1): The link with the neurobiological level

被引：40
作者：
Hachon, Caroline [1 ,2 ]
Iannuzzi, Stephanie [1 ,2 ]
Chaix, Yves [1 ,2 ,3 ]
机构：
[1] Hop Enfants, Unite Neurol Pediat, F-31059 Toulouse 9, France
[2] CHU Purpan, INSERM, Imagerie Cerebrale & Handicaps Neurol UMR 825, F-31059 Toulouse 9, France
[3] Univ Toulouse, UPS, Imagerie Cerebrale & Handicaps Neurol UMR 825, CHU Purpan, F-31059 Toulouse 9, France
来源：
BRAIN & DEVELOPMENT | 2011年 / 33卷 / 01期
关键词：
NF1; Child; Reading disabilities; Cognitive impairment; Brain imagery; HIGH-SIGNAL-INTENSITY; LEARNING-DISABILITIES; MOUSE MODEL; DEFICITS; BRAIN; MRI; HYPERINTENSITIES; PERFORMANCE; IMPAIRMENT; PROFILE;
D O I：
10.1016/j.braindev.2009.12.008
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Neurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorder encountered in children. Approximately 50% of children with NF1 develop learning disabilities notably for reading. Understanding the reasons of reading impairment in this context may lead to improve therapeutic methods in NF1 and more generally in reading developmental disorders. An interesting challenge is to disentangle the connections between the different levels of description proposed in the etiological approach. This is the aim of this review based on recent advances in analysis of cognitive deficits observed in children with NF1 and on results of recent brain imaging (structural and functional) or animal model studies. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
引用
收藏
页码：52 / 61
页数：10
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