RT期刊文章SR电子T1的认知表现型McCune-Albright综合症:一个案例系列(p2.1 - 021)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP p2.1补充92 - 021签证官是15首页 A1莉莲火腿A1劳拉Segala A1吉娜Norato A1 Michael Gregory A1艾莉森·博伊斯A1马里兰Pao A1迈克尔·柯林斯A1约瑟夫·雪年2019 UL //www.ez-admanager.com/content/92/15_supplement/p2.1 - 021. -文摘AB目的:描述成人McCune-Albright综合征的认知能力(MAS)的患者也进行了神经影像研究(MRI和/或CT)。背景:马斯是一种罕见的遗传性疾病由体细胞玲娜基因的激活突变引起的,表现为纤维发育不良,单方面的浅褐色的皮肤色素沉着、内分泌病。纤维组织异常增生不同的组织和参与程度的影响,但往往是单方面的,经常影响到头盖骨。颅畸形可能导致局部脑损伤以及头痛和癫痫发作。尽管MAS的潜在神经效应,没有研究描述这些病人的神经心理功能。设计/方法:29马斯成人患者(86.2%右旋)参加完成自然历史研究神经心理评估和神经影像学(颅的纤维发育不良:nleft = 6, nright = 4, nbilateral = 18日nnone = 1;侧脑室扩大:nleft = 5, nright = 1, nbilateral = 4, nnone = 18)。结果:患者平均智商97.9 (SD = 14.8)。更多的病人有异常的大脑左边比右边。一个一个示例Wilcoxon符号秩检验显示差异显著提高语言和非语言单项成绩在两个方向WAIS-IV智力量表相对规范的样本(V = 318.5, p = .009)。个人影响双边颅纤维发育不良和/或心室扩大一般表现糟糕,智商比那些措施单眼无论病变的程度。结论:大多数患者并没有展示出明显的认知障碍,尽管17.2%的患者的智商超过SD低于均值(< 85)。双边患者大脑异常表现出较低的智商比单方面的参与。 The rate of WAIS-IV verbal-nonverbal discrepancy in adult MAS patients was significantly higher than in the general population, suggesting possible lateralization of brain involvement. Future research should investigate the correlation between affected side and specific cognitive deficits in MAS as well as the possible role of plasticity during brain development.Disclosure: Dr. Ham has nothing to disclose. Dr. Segala has nothing to disclose. Dr. Norato has nothing to disclose. Dr. Gregory has nothing to disclose. Dr. Boyce has nothing to disclose. Dr. Pao has nothing to disclose. Dr. Collins has nothing to disclose. Dr. Snow has nothing to disclose.

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