Department of Experimental Psychology, University of Oxford, UK.
Dev Med Child Neurol. 2010 Feb;52(2):119-29. doi: 10.1111/j.1469-8749.2009.03545.x. Epub 2010 Jan 5.
To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs).
A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0.
We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation.
Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples.
系统回顾性分析性染色体三体（SCT）个体的神经发育特征。
通过文献检索，确定了关于 SCT 的英语文献。重点是无临床转诊偏倚的研究，其效能至少为 0.69，以检测 1.0 的效应大小。
我们确定了 35 篇关于 5 例新生儿期确诊的 SCT 样本的文章，这些样本具有足够的研究效能。另外还纳入了 11 项研究，这些研究中的病例是由于神经发育以外的原因而确诊的。额外 X 染色体的个体的平均智商在广泛的正常范围内，但低于各自的对照组，其中语言智商受影响最大。XXX 女性的认知结果最差。XYY 男性的智商在正常范围内，但所有三组 SCT（XXX、XXY 和 XYY）在言语、语言、运动技能和学业成绩方面都有明显困难。尽管如此，大多数 SCT 患者都能独立生活。关于大脑结构以及注意力、社交和精神科结果的证据较少。在每个组内都存在较大差异。
SCT 个体存在认知和行为困难的风险。然而，证据基础薄弱，需要进一步研究来确定未选择样本中这些困难的性质、严重程度和原因。
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