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22q11.2DS 患儿数量级表征缺陷的程度及其与算术技能的关系。

Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS.

机构信息

Laboratoire EMC, Département de Sciences Cognitives, Psychologie Cognitive et Neuropsychologie, Université Lyon 2, Lyon, France.

Service de Neuropédiatrie, Hôpital Nord Ouest, Villefranche-Sur-Saône, France.

出版信息

Orphanet J Rare Dis. 2024 Jul 3;19(1):250. doi: 10.1186/s13023-024-03263-1.

Abstract

BACKGROUND

Previous studies have produced conflicting results concerning the extent of magnitude representation deficit and its relationship with arithmetic achievement in children with 22q11.2 deletion syndrome. More specifically, it remains unclear whether deficits are restricted to visuospatial content or are more general and whether they could explain arithmetical impairment.

METHODS

Fifteen 5- to 12-year-old children with 22q11.2 deletion syndrome and 23 age-matched healthy controls performed a non-symbolic magnitude comparison task. Depending on the trial, participants had to compare stimuli with high or low visuospatial load (visuospatial stimuli or temporal sequence of visual stimuli). The participants also completed a battery of arithmetic skills (ZAREKI-R) and a battery of global cognitive functioning (WISC-V or WPPSI-IV), from which working memory and visuospatial indices were derived.

RESULTS

Children with 22q11.2DS responded as fast as healthy controls did but received fewer correct responses, irrespective of visuospatial load. In addition, their performance in the non-symbolic magnitude comparison task did not correlate with the ZAREKI total score, while the working memory index did.

CONCLUSION

Children with 22q11.2DS might suffer from a global magnitude representation deficit rather than a specific deficit due to visuospatial load. However, this deficit alone does not seem to be related to arithmetic achievement. Working memory might be a better concern of interest in favoring arithmetic skills in patients with 22q11.2 deletion syndrome.

TRIAL REGISTRATION

Clinicaltrials, NCT04373226 . Registered 16 September 2020.

摘要

背景

先前的研究对于 22q11.2 缺失综合征患儿的数量表征缺陷程度及其与算术成绩的关系得出了相互矛盾的结果。更具体地说,目前尚不清楚这些缺陷是否仅限于视觉空间内容,或者是否更为普遍,以及它们是否可以解释算术障碍。

方法

15 名 5 至 12 岁的患有 22q11.2 缺失综合征的儿童和 23 名年龄匹配的健康对照组参加了非符号数量比较任务。根据试验的不同,参与者必须比较具有高或低视觉空间负荷的刺激物(视觉刺激物或视觉刺激的时间序列)。参与者还完成了一系列算术技能(ZAREKI-R)和一系列整体认知功能(WISC-V 或 WPPSI-IV)测试,从中得出了工作记忆和视觉空间指数。

结果

22q11.2DS 组的儿童反应速度与健康对照组一样快,但无论视觉空间负荷如何,他们的正确反应都较少。此外,他们在非符号数量比较任务中的表现与 ZAREKI 总分无关,而与工作记忆指数有关。

结论

22q11.2DS 患儿可能存在整体数量表征缺陷,而不是由于视觉空间负荷引起的特定缺陷。然而,这种缺陷本身似乎与算术成绩无关。工作记忆可能是一个更好的关注点,有利于 22q11.2 缺失综合征患者的算术技能。

试验注册

Clinicaltrials,NCT04373226。于 2020 年 9 月 16 日注册。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea5a/11223380/3d26d4ff955e/13023_2024_3263_Fig1_HTML.jpg

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