Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
J Clin Endocrinol Metab. 2020 Apr 1;105(4). doi: 10.1210/clinem/dgz151.
There is little information on cognitive function in Silver-Russell syndrome (SRS), and no neuroimaging studies are available so far.
To assess cognitive function and brain volumes in patients with SRS.
DESIGN/SETTING: Wechsler Intelligence Scale and brain magnetic resonance on a 3-Tesla scanner with Voxel-based morphometry analysis were performed between 2016 and 2018 in a single tertiary university center.
38 white subjects with clinical diagnosis of SRS confirmed by molecular analysis: 30 of these patients (mean age 12.6 ± 10 years) were enrolled for cognitive assessment; 23 of the 30 performed neuroimaging sequences. A control group of 33 school-aged children performed cognitive assessment while 65 age and sex-matched volunteers were included for the neuroradiological assessment.
Intelligence quotient, Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI), Working Memory Index (WMI), Processing Speed Index, and brain volume.
The mean overall IQ score was 87.2 ± 17, and it was significantly lower in the maternal uniparental disomy of chromosome 7 (mUPD7) group at the age of 6 to 16 years compared to loss of methylation on chromosome 11p15 (11p15 LOM) group and to controls. VCI, PRI, and WMI were significantly higher in 11p15 LOM group and in control group than in mUPD7 group at the age of 6 to 16 years. There were no significant differences in cognitive scores between 11p15 LOM school-aged patients and the control group. SRS patients showed lower brain volume compared to controls at the frontal/temporal poles and globi pallidi.
Patients with mUPD7 had an impaired cognitive profile. The brain volume at the frontal/temporal lobes and at the globi pallidi was reduced in patients with SRS.
关于 Silver-Russell 综合征（SRS）患者的认知功能，信息较少，且目前尚无神经影像学研究。
评估 SRS 患者的认知功能和脑容量。
设计/地点：在一家单一的三级大学中心，于 2016 年至 2018 年进行了威斯勒智力测验和 3T 磁共振脑扫描，并进行了基于体素的形态计量学分析。
38 名经分子分析确诊为 SRS 的白人患者：其中 30 名患者（平均年龄 12.6±10 岁）纳入认知评估；30 名患者中有 23 名进行了神经影像学检查。一组 33 名学龄儿童进行了认知评估，同时纳入 65 名年龄和性别匹配的志愿者进行神经影像学评估。
智商、言语理解指数（VCI）、知觉推理指数（PRI）、工作记忆指数（WMI）、处理速度指数和脑容量。
总体平均智商评分（IQ）为 87.2±17，6 至 16 岁的母源单亲二体性 7 号染色体（mUPD7）组显著低于 11p15 号染色体去甲基化（11p15 LOM）组和对照组。6 至 16 岁时，11p15 LOM 组和对照组的 VCI、PRI 和 WMI 均显著高于 mUPD7 组。11p15 LOM 学龄期患者与对照组之间的认知评分无显著差异。SRS 患者的大脑体积比对照组在额/颞极和苍白球处更小。
mUPD7 患者的认知特征受损。SRS 患者的额叶/颞叶和苍白球的脑容量减少。
