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首页> 外文期刊>The British journal of psychiatry : >Cognitive development in children with 22q11.2 deletion syndrome
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Cognitive development in children with 22q11.2 deletion syndrome

机译：22q11.2缺失综合征儿童的认知发展

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Background People with 22q11.2 deletion syndrome (velo-cardio-facial syndrome) have a 30-fold risk of developing schizophrenia. In the general population the schizophrenia phenotype includes a cognitive deficit and a decline in academic performance preceding the first episode of psychosis in a subgroup of patients. Findings of cross-sectional studies suggest that cognitive abilities may decline over time in some children with 22q11.2 deletion syndrome. If confirmed longitudinally, this could indicate that one or more genes within 22q11.2 are involved in cognitive decline. Aims To assess longitudinally the change in IQ scores in children with 22q11.2 deletion syndrome. Method Sixty-nine children with the syndrome were cognitively assessed two or three times at set ages 5.5 years, 7.5 years and 9.5 years. Results A mean significant decline of 9.7 Full Scale IQ points was found between ages 5.5 years and 9.5 years. In addition to the overall relative decline that occurred when results were scored according to age-specific IQ norms, in 10 out of a group of 29 children an absolute decrease in cognitive raw scores was found between ages 7.5 years and 9.5 years. The decline was not associated with a change in behavioural measures. Conclusions The finding of cognitive decline can be only partly explained as the result of a€?growing into deficita€?; about a third of 29 children showed an absolute loss of cognitive faculties. The results underline the importance of early psychiatric screening in this population and indicate that further study of the genes at the 22q11.2 locus may be relevant to understanding the genetic basis of early cognitive deterioration.
机译：背景患有22q11.2缺失综合征（心肺综合征）的人患精神分裂症的风险是30倍。在一般人群中，精神分裂症的表型包括在患者亚组中第一次精神病发作之前的认知缺陷和学习成绩下降。横断面研究的结果表明，某些患有22q11.2缺失综合征的儿童的认知能力可能随时间下降。如果纵向确认，则可能表明22q11.2内的一个或多个基因参与了认知能力下降。目的纵向评估22q11.2缺失综合征儿童的智商得分变化。方法对69名患有该综合征的儿童在设定的年龄5.5岁，7.5岁和9.5岁时进行了两次或三次认知评估。结果发现，在5.5岁至9.5岁之间平均智商显着下降9.7满分。除了根据特定年龄的智商标准对结果进行评分时出现的总体相对下降之外，在29名儿童中，有10名在7.5岁至9.5岁之间发现了原始认知得分的绝对下降。下降与行为方式的改变无关。结论认知能力下降的发现只能部分解释为“增长为赤字”的结果。 29名儿童中约有三分之一表现出绝对的认知能力丧失。结果强调了在该人群中进行早期精神病筛查的重要性，并表明进一步研究22q11.2位点上的基因可能与理解早期认知退化的遗传基础有关。

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