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22q11.2 缺失综合征:运动缺陷是否超出了智商水平的预期?

22q11.2 deletion syndrome: are motor deficits more than expected for IQ level?

机构信息

Department of Psychiatry & Behavioral Sciences, the Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome and the Communications Disorder Unit, State University of New York-Upstate Medical University, Syracuse, NY, USA.

出版信息

J Pediatr. 2010 Oct;157(4):658-61. doi: 10.1016/j.jpeds.2010.04.073. Epub 2010 Jun 19.

Abstract

OBJECTIVE

To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group.

STUDY DESIGN

This study was part of a prospective study of neuropsychological function in children 9 to 15 years of age with 22q11.2 and community control subjects and included children from these two populations with comparable FSIQs.

RESULTS

Verbal IQs on the WISC-R for 40 children with 22q11.2 (88.4) and 24 community control subjects (87.2) were not different (P=.563). However, the performance IQs were (22q11.2; 81.1 vs community controls; 89.3; P<.001). On the Visual Motor Inventory, there was no difference between the standard scores of the two groups (22q11.2; 93.0 vs community control subjects; 98.1; P=.336) but on the motor coordination part of the Visual Motor Inventory, the scores of the 22q11.2 deletion syndrome group were lower (77.2 vs 89.3; P=.002). On the general neurologic examination (P=.906), the tone examination (P=.705), and the ball skills part of the Motor Battery, (P=.378), there were no differences. However, on the axial stability part of the Motor Battery, the children with 22q11.2 exhibited less good balance (P=.026).

CONCLUSIONS

School-aged children with 22q11.2 have specific motor deficits in axial stability and graphomotor skills.

摘要

目的

研究 22q11.2 缺失综合征(22q11.2)患儿的运动功能,并与具有相似全智商(FSIQ)的对照组进行比较。

研究设计

本研究是一项针对 9 至 15 岁儿童神经心理学功能的前瞻性研究的一部分,包括 22q11.2 患儿和社区对照受试者,其中包括这两个群体中具有相似 FSIQ 的儿童。

结果

40 名 22q11.2 患儿(88.4)和 24 名社区对照受试者(87.2)在 WISC-R 上的言语智商无差异(P=.563)。然而,他们的操作智商存在差异(22q11.2;81.1 与社区对照组;89.3;P<.001)。在视觉运动库存中,两组的标准分数无差异(22q11.2;93.0 与社区对照组;98.1;P=.336),但在视觉运动库存的运动协调部分,22q11.2 缺失综合征组的得分较低(77.2 与 89.3;P=.002)。在一般神经检查(P=.906)、肌张力检查(P=.705)和运动电池的球技部分(P=.378)中,无差异。然而,在运动电池的轴向稳定性部分,22q11.2 患儿的平衡能力较差(P=.026)。

结论

学龄期 22q11.2 患儿存在轴向稳定性和手眼协调运动技能的特定运动缺陷。

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本文引用的文献

2
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Lancet. 2007 Oct 20;370(9596):1443-52. doi: 10.1016/S0140-6736(07)61601-8.
3
22q11.2DS deletion syndrome: developmental milestones in infants and toddlers.
J Dev Behav Pediatr. 2007 Apr;28(2):119-24. doi: 10.1097/01.DBP.0000267554.96081.12.
4
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).
Dev Med Child Neurol. 2007 Mar;49(3):210-3. doi: 10.1111/j.1469-8749.2007.00210.x.
5
Neuromotor deficits in children with the 22q11 deletion syndrome.
Mov Disord. 2006 Dec;21(12):2082-9. doi: 10.1002/mds.21103.
6
Attention deficits in children with 22q.11 deletion syndrome.
Dev Med Child Neurol. 2005 Dec;47(12):803-7. doi: 10.1017/S0012162205001702.
7
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.
Dev Med Child Neurol. 2005 Dec;47(12):797-802. doi: 10.1017/S0012162205001696.
8
Velo-cardio-facial syndrome.
Curr Opin Pediatr. 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b.
9
Defining the clinical spectrum of deletion 22q11.2.
J Pediatr. 2005 Jul;147(1):90-6. doi: 10.1016/j.jpeds.2005.03.007.
10
Disabilities and cognition in children and adolescents with 22q11 deletion syndrome.
Dev Med Child Neurol. 2005 Mar;47(3):177-84. doi: 10.1017/s0012162205000320.

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