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22q11.2 缺失综合征(22q11DS)患儿与特发性智力障碍(IID)患儿认知能力和社会反应能力的探索性研究。

Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID).

机构信息

KU Leuven, Faculty of Medicine, Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Leuven, Belgium; University Hospitals Leuven, Department of Oto-Rhino-Laryngology, Head & Neck Surgery, MUCLA, Leuven, Belgium.

KU Leuven, Faculty of Psychology and Educational Sciences, Leuven, Belgium.

出版信息

Res Dev Disabil. 2018 Oct;81:89-102. doi: 10.1016/j.ridd.2018.04.026. Epub 2018 Jun 21.

Abstract

BACKGROUND

Development of cognitive skills and social responsiveness are areas of concern in children with 22q11.2 deletion syndrome (22q11DS). It remains unclear if the cognitive and social profiles and trajectories are syndrome-specific or similar to those of children with idiopathic intellectual disabilities (IID) with or without comorbid autism spectrum disorder (ASD).

AIMS AND METHODS

In this exploratory study, we examined and compared five broad cognitive abilities (BCAs) and the social responsiveness in primary school-aged children with 22q11DS (age 6-13, n = 21) and IQ-matched peers with IID (n = 21). The relative strengths and weaknesses of both groups were re-evaluated after 19 to 30 months.

OUTCOMES AND RESULTS

Four different cognitive trajectories (i.e. absolute progress, stability, growing into deficit, and absolute decline) were demonstrated in both groups. Most children showed combined types of trajectories across BCAs resulting in a complex changing cognitive profile. In the 22q11DS group, social responsiveness problems increased, whereas no significant change was observed in the IID group.

CONCLUSIONS AND IMPLICATIONS

Results reflect similar cognitive and social responsiveness profiles and trajectories across groups with children with 22q11DS being more at risk for growing into a social deficit. We recommend repeated monitoring of social skills development to adapt the environmental demands to the child's individual social capacities.

摘要

背景

认知技能和社会反应能力的发展是 22q11.2 缺失综合征(22q11DS)患儿关注的领域。目前尚不清楚认知和社会特征和轨迹是否是综合征特异性的,还是与伴有或不伴有自闭症谱系障碍(ASD)的特发性智力障碍(IID)儿童的相似。

目的和方法

在这项探索性研究中,我们检查和比较了 22q11DS 患儿(6-13 岁,n=21)和智商匹配的 IID 患儿(n=21)在小学年龄段的五个广泛的认知能力(BCAs)和社会反应能力。在 19 至 30 个月后,重新评估了两组的相对优势和劣势。

结果和结论

两组均显示了四种不同的认知轨迹(即绝对进展、稳定、发展为缺陷和绝对下降)。大多数儿童在所有的 BCA 中表现出混合类型的轨迹,导致认知特征的复杂变化。在 22q11DS 组中,社会反应能力问题增加,而在 IID 组中则没有观察到显著变化。

结果反映了两组相似的认知和社会反应特征和轨迹,22q11DS 患儿更有可能发展为社会缺陷。我们建议反复监测社交技能的发展,以使环境需求适应儿童的个体社交能力。

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