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首页> 外文期刊>Pediatric neurology >Corpus Callosum Measurements Correlate With Developmental Delay in Smith-Lemli-Opitz Syndrome
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Corpus Callosum Measurements Correlate With Developmental Delay in Smith-Lemli-Opitz Syndrome

机译：语料库Call测量与史密斯-莱姆利-奥普兹氏综合症的发育延迟相关。

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BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation, neurodevelopmental disorder of cholesterol metabolism caused by mutations in 7-dehydrocholesterol reductase. Corpus callosum (CC) malformations and developmental delay are common, but the relation between the two has not been evaluated. This study hypothesizes shorter callosal length and smaller area correlate with higher serum 7-dehydrocholesterol and increased severity of neurodevelopmental delay in SLOS. METHODS: Thirty-six individuals with SLOS (18M/18F) between 0.20 and 12.5 years.(mean = 3.9, SD = 3.6) and 36 typically developing controls (18 boys and 18 girls) between 0.12 and 12.8 years (mean = 4.0, SD = 3.6) were each imaged once on a 1.5T scanner. One midsagittal image per study was selected for manual CC measurement. Gross motor, fine motor, and language developmental quotients; anatomical severity score; and serum sterol levels were assessed. RESULTS: Shorter CC length and smaller area correlated with a lower developmental quotient in gross motor and language domains. Furthermore, length and area negatively correlated with a serum sterol precursors and severity score, and positively correlated with total cholesterol. Degree of developmental delay ranged from mild to severe, involving all domains. CONCLUSIONS: For individuals with SLOS, smaller callosal area and length are associated with higher 7-dehydrocholesterol, severity scores, and developmental delay. The relationship between callosal development and biochemical abnormalities in this cohort may lead to further studies supporting imaging biomarkers. (C) 2013 Elsevier Inc. All rights reserved.
机译：背景：Smith-Lemli-Opitz综合征（SLOS）是由7-脱氢胆固醇还原酶突变引起的胆固醇代谢的多种畸形，神经发育障碍。 call体（CC）畸形和发育迟缓很常见，但两者之间的关系尚未得到评估。这项研究假设更短的call长度和较小的面积与较高的血清7-​​脱氢胆固醇和SLOS的神经发育延迟的严重程度相关。方法：36名SLOS（18M / 18F）在0.20至12.5岁之间（平均= 3.9，SD = 3.6）的个体和36名通常在0.12至12.8岁之间（平均= 4.0， SD = 3.6）在1.5T扫描仪上分别成像一次。每个研究选择一张中矢状图像进行手动CC测量。总运动，精细运动和语言发展商;解剖学严重程度评分;并评估血清固醇水平。结果：较短的CC长度和较小的面积与总运动和语言领域中较低的发展商相关。此外，长度和面积与血清固醇前体和严重程度得分呈负相关，与总胆固醇呈正相关。发育延迟的程度从轻度到严重不等，涉及所有领域。结论：对于患有SLOS的个体，较小的call面积和长度与较高的7-脱氢胆固醇，严重程度评分和发育延迟有关。在这个队列中call的发育与生化异常之间的关系可能导致进一步的研究支持成像生物标志物。 （C）2013 Elsevier Inc.保留所有权利。

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