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威廉姆斯综合征认知发展的横断面和纵向评估。

Cross-sectional and longitudinal assessment of cognitive development in Williams syndrome.

作者信息

Farran Emily K, Purser Harry R M, Jarrold Christopher, Thomas Michael S C, Scerif Gaia, Stojanovik Vesna, Van Herwegen Jo

机构信息

School of Psychology, University of Surrey, Guildford, UK.

Department of Psychology, Nottingham Trent University, Nottingham, UK.

出版信息

Dev Sci. 2024 Jan;27(1):e13421. doi: 10.1111/desc.13421. Epub 2023 Jun 7.

Abstract

Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of individuals with WS to-date. In Study 1, we report cross-sectional data between N = 102 and N = 209 children and adults with WS on measures of verbal and non-verbal ability. In Study 2, we report longitudinal data from N = 17 to N = 54 children and adults with WS who had been tested on at least three timepoints on these measures. Data support the WS characteristic cognitive profile of stronger verbal than non-verbal ability, and shallow developmental progression for both domains. Both cross-sectional and longitudinal data demonstrate steeper rates of development in the child participants than the adolescent and adults in our sample. Cross-sectional data indicate steeper development in verbal than non-verbal ability, and that individual differences in the discrepancy between verbal and non-verbal ability are largely accounted for by level of intellectual functioning. A diverging developmental discrepancy between verbal and non-verbal ability, whilst marginal, is not mirrored statistically in the longitudinal data. Cross-sectional and longitudinal data are discussed with reference to validating cross-sectional developmental patterns using longitudinal data and the importance of individual differences in understanding developmental progression.

摘要

威廉姆斯综合征(WS)是一种罕见的遗传综合征。与所有罕见综合征一样,获得足够大的样本量是一项挑战。在此,我们展示了来自英国七个实验室的遗留数据,从而能够在迄今为止最大规模的威廉姆斯综合征患者样本中,对言语和非言语发展的横断面及纵向发展轨迹进行特征描述。在研究1中,我们报告了102名至209名患有威廉姆斯综合征的儿童和成人在言语和非言语能力测量方面的横断面数据。在研究2中,我们报告了17名至54名患有威廉姆斯综合征的儿童和成人的纵向数据,这些人在这些测量指标上至少接受了三个时间点的测试。数据支持威廉姆斯综合征典型的认知特征,即言语能力强于非言语能力,且两个领域的发展进程都较为平缓。横断面和纵向数据均表明,我们样本中的儿童参与者比青少年和成人的发展速度更快。横断面数据表明,言语能力的发展比非言语能力更迅速,而且言语和非言语能力差异中的个体差异在很大程度上由智力功能水平所决定。言语和非言语能力之间存在逐渐扩大的发展差异,虽然不显著,但在纵向数据中并未得到统计学上的反映。我们结合使用纵向数据验证横断面发展模式以及个体差异在理解发展进程中的重要性,对横断面和纵向数据进行了讨论。

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