Custer D A, Vezina L G, Vaught D R, Brasseux C, Samango-Sprouse C A, Cohen M S, Rosenbaum K N
Department of Medical Genetics, Children's National Medical Center, Washington, DC 20010, USA.
J Dev Behav Pediatr. 2000 Feb;21(1):12-8. doi: 10.1097/00004703-200002000-00003.
This descriptive study examined the relationship between head size, developmental functioning, and neuroimaging findings in children with absolute microcephaly. Subjects, aged 1 to 48 months, were assigned to one of two groups based on occipitofrontal head circumference (OFC). Group A included subjects with an OFC of 2 to 2.99 standard deviations below the mean, and Group B included subjects with an OFC of 3 or more standard deviations below the mean. Brain scan findings for 62% of the subjects were abnormal. Findings included cerebral atrophy, cortical dysplasia, myelination delay, and white matter hypoplasia. Mean scores for developmental measures in Groups A and B were less than 70. Mean developmental scores in the normal imaging group were 70 or greater, whereas developmental scores in the abnormal imaging group were 52 or less. Forty-three percent of the subjects in Group A and 80% of those in Group B had abnormal findings from imaging studies (p = .0394). Subjects with one or more brain abnormalities determined on the basis of magnetic resonance images or computed tomographic scans had significantly lower scores in all developmental areas (p < .05). The authors concluded that abnormal brain images seem to be a better reflection of developmental performance than the degree of microcephaly. J Dev Behav Pediatr 21:12-18, 2000. Index terms: microcephaly, neuroimaging, neurodevelopment.
这项描述性研究考察了绝对小头畸形患儿的头围大小、发育功能与神经影像学检查结果之间的关系。研究对象为1至48个月大的儿童,根据枕额头围(OFC)被分为两组。A组包括OFC低于平均值2至2.99个标准差的儿童,B组包括OFC低于平均值3个或更多标准差的儿童。62%的研究对象脑部扫描结果异常。异常结果包括脑萎缩、皮质发育异常、髓鞘形成延迟和白质发育不全。A组和B组发育指标的平均得分均低于70分。正常影像学组的发育平均得分在70分及以上,而异常影像学组的发育得分在52分及以下。A组43%的研究对象和B组80%的研究对象影像学检查结果异常(p = 0.0394)。根据磁共振成像或计算机断层扫描确定存在一种或多种脑部异常的研究对象在所有发育领域的得分均显著更低(p < 0.05)。作者得出结论,异常脑部影像似乎比小头畸形程度更能反映发育表现。《发育与行为儿科学杂志》2000年第21卷:12 - 18页。关键词:小头畸形、神经影像学、神经发育