Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update
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DOI：
10.1111/j.1365-2788.2007.00955.x
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发表时间：
2007-09-01
影响因子：
3.6
通讯作者：
Swillen, A.
中科院分区：
文献类型：
--
作者：
De Smedt, B.;Devriendt, K.;Swillen, A.
背景学习障碍是速度-心-面综合征（VCFS）中最常报道的特征之一。然而，早期关于VCFS儿童智商的报告受到样本量小和确定偏差的限制。因此，本研究的目的是复制这些早期的研究结果，并在一个大样本的VCFS儿童的智力调查。此外，我们的目的是确定因素，可能有助于内综合征的认知性能的变化，如删除，性别，存在心脏缺陷和精神病morbidity.Method智商数据的103名儿童VCFS（56名男性，47名女性）的遗传模式。结果VCFS儿童的全量表智商（FSIQ）平均为73-48（范围：50-109）。性别、心脏缺陷和精神状况对智力特征没有影响。遗传的缺失影响认知性能在VCFS，具有家族性缺失的儿童有显着较低的FSIQ比儿童从头deletion.Conclusions学习障碍是非常常见的儿童VCFS，虽然显着的综合征内变异注意。造成这种变异性的一个因素似乎是缺失的遗传方式。
Background Learning disabilities are one of most consistently reported features in Velo-Cardio-Facial Syndrome (VCFS). Earlier reports on IQ in children with VCFS were, however, limited by small sample sizes and ascertainment biases. The aim of the present study was therefore to replicate these earlier findings and to investigate intellectual abilities in a large sample of children with VCFS. In addition, we aimed to identify factors that may contribute to within-syndrome variability in cognitive performance, such as the mode of inheritance of the deletion, sex, the presence of a heart defect and psychiatric morbidity.Method IQ data of 103 children with VCFS (56 males, 47 females) were collected. Psychiatric diagnosis was additionally recorded.Results Children with VCFS had a mean full-scale IQ (FSIQ) Of 73-48 (range: 50-109). There were no effects of sex, presence of a heart defect and psychiatric condition on intellectual profile. Inheritance of the deletion affected cognitive performance in VCFS, with children with familial deletions having significant lower FSIQ than children with a de novo deletion.Conclusions Learning disabilities are very common in children with VCFS, although marked within syndrome variability is noted. One factor contributing to this variability seems to be the mode of inheritance of the deletion.