Biotteau Maëlle, Déjean Sébastien, Lelong Sandrine, Iannuzzi Stéphanie, Faure-Marie Nathalie, Castelnau Pierre, Rivier François, Lauwers-Cancès Valérie, Baudou Eloïse, Chaix Yves
ToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, France.
Children's Hospital, Toulouse-Purpan University Hospital, Toulouse, France.
Front Neurol. 2020 May 5;11:368. doi: 10.3389/fneur.2020.00368. eCollection 2020.
Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30-70% of NF1 cases. The onset and severity of each specific cognitive deficit varies greatly from child to child, with no apparent external causes. The wide variability of phenotype is the most complex aspect in terms of management and care. Despite multiple research, the mechanism underlying the high heterogeneity in NF1 has not yet been elucidated. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). We used a complete neuropsychological evaluation designed to assess five large cognitive areas: general cognitive functions (WISC-IV and EVIP); reading skills ("," ODEDYS-2 and Lobrot French reading tests); phonological process (ODEDYS-2 test); visual perceptual skills (JLO, Thurstone and Corsi block tests) and attention (CPT-II), as well as psychosocial adjustments (CBCL) to explore the impact of NF1 transmission on cognitive disease manifestation in 96 children affected by NF1 [55 sporadic cases (29♀, 26♂); 41 familial cases (24♀, 17♂)]. Familial and Sporadic form of NF1 only differ in IQ expression. The families' socioeconomic status (SES) impacts IQ performance but not differently between sporadic and familial variants. However, SES is lower in familial variants than in the sporadic variant of NF1. No other cognitive differences emerge between sporadic and familial NF1. Inheritance in NF1 failed to explain the phenotype variability in its entirety. IQ differences between groups seems in part linked to the environment where the child grows up. Children with NF1, and especially those that have early diagnoses (most often in inherited cases), must obtain careful monitoring from their early childhood, at home to strengthen investment in education and in school to early detect emerging academic problems and to quickly place them into care. IDRCB, IDRCB2008-A01444-51. Registered 19 January 2009.
认知障碍是1型神经纤维瘤病（NF1）最常见的神经学表现，在30%-70%的NF1病例中出现。每个特定认知缺陷的发病和严重程度在儿童之间差异很大，且无明显外部原因。就管理和护理而言，表型的广泛变异性是最复杂的方面。尽管进行了多项研究，但NF1高度异质性的潜在机制尚未阐明。虽然许多研究集中在特定精确基因突变对NF1表型的影响上，但关于NF1遗传方式（散发性与家族性病例）的影响研究较少。我们采用了一项完整的神经心理学评估，旨在评估五个主要认知领域：一般认知功能（韦氏儿童智力量表第四版和EVIP）；阅读技能（“，ODEDYS-2和洛布罗特法语阅读测试）；语音处理（ODEDYS-2测试）；视觉感知技能（JLO、瑟斯顿和科尔西方块测试）和注意力（连续性能测试-II），以及心理社会适应（儿童行为检查表），以探讨NF1遗传方式对96例受NF1影响儿童（55例散发性病例（29♀，26♂）；41例家族性病例（24♀，17♂））认知疾病表现的影响。NF1的家族性和散发性形式仅在智商表达上有所不同。家庭的社会经济地位（SES）会影响智商表现，但在散发性和家族性变体之间没有差异。然而，NF1家族性变体的SES低于散发性变体。散发性和家族性NF1之间没有出现其他认知差异。NF1的遗传方式未能完全解释其表型变异性。组间智商差异似乎部分与儿童成长的环境有关。患有NF1的儿童，尤其是那些早期诊断的儿童（大多数是遗传性病例），必须从幼儿期开始在家中得到仔细监测，以加强教育投入，并在学校中早期发现出现的学业问题并迅速给予护理。IDRCB，IDRCB2008-A01444-51。2009年1月19日注册。
