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阿斯克格综合征的智力与发育

Intelligence and development in Aarskog syndrome.

作者信息

Logie L J, Porteous M E

机构信息

Human Genetics Unit, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, UK.

出版信息

Arch Dis Child. 1998 Oct;79(4):359-60. doi: 10.1136/adc.79.4.359.

DOI:10.1136/adc.79.4.359
PMID:9875050
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1717704/
Abstract

AIM

To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome.

METHODS

21 boys under 17 years of age with a confirmed clinical diagnosis of Aarskog syndrome were assessed using the Griffiths mental development scales and the British ability scales.

RESULTS

IQ ranged from 68 to 128 and followed a normal distribution.

CONCLUSION

This study does not support the hypothesis that Aarskog syndrome is associated with a lowering of mean IQ.

摘要

目的

检验阿斯伯格综合征患者的总体智商(IQ)降低这一假设。

方法

使用格里菲斯心理发展量表和英国能力量表对21名17岁以下临床确诊为阿斯伯格综合征的男孩进行评估。

结果

智商范围为68至128,呈正态分布。

结论

本研究不支持阿斯伯格综合征与平均智商降低相关的假设。

相似文献

1
Intelligence and development in Aarskog syndrome.阿斯克格综合征的智力与发育
Arch Dis Child. 1998 Oct;79(4):359-60. doi: 10.1136/adc.79.4.359.
2
Aarskog syndrome: the changing phenotype with age.阿斯克格综合征:随年龄变化的表型
Am J Med Genet. 1992;43(1-2):420-7. doi: 10.1002/ajmg.1320430164.
3
Umbilical findings in Aarskog syndrome.阿斯克格综合征的脐部表现。
Clin Genet. 1994 May;45(5):260-5. doi: 10.1111/j.1399-0004.1994.tb04152.x.
4
Congenital heart defects in Aarskog syndrome.
Am J Med Genet. 1994 May 1;50(4):318-22. doi: 10.1002/ajmg.1320500404.
5
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.X连锁Aarskog综合征:关于一种新型FGD1基因突变的报告。执行功能障碍作为行为表型的一部分。
Genet Couns. 2012;23(2):157-67.
6
The Aarskog syndrome.
Ann Genet. 1980;23(2):108-10.
7
Prenatal sonographic diagnosis of Aarskog syndrome.Aarskog综合征的产前超声诊断
J Ultrasound Med. 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707.
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Orthodontic treatment of a case of Aarskog syndrome.
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Aarskog syndrome in a Brazilian boy born to consanguineous parents.一名巴西男孩患Aarskog综合征,其父母为近亲结婚。
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本文引用的文献

1
The Aarskog syndrome.
Ann Genet. 1980;23(2):108-10.
2
The Aarskog (facio-digital-genital) syndrome in South Africa. A report of three families.南非的阿斯克格(面-指-生殖器)综合征。三例家族报告。
S Afr Med J. 1984 Feb 25;65(8):299-303.
3
A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
J Pediatr. 1970 Nov;77(5):856-61. doi: 10.1016/s0022-3476(70)80247-5.
4
Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.
Birth Defects Orig Artic Ser. 1971 May;7(6):240-6.
5
The Aarskog syndrome.阿斯克格综合征
J Pediatr. 1972 Dec;81(6):1117-22. doi: 10.1016/s0022-3476(72)80242-7.
6
The facial-digital-genital (Aarskog) syndrome.
Am J Dis Child. 1973 Aug;126(2):248-52. doi: 10.1001/archpedi.1973.02110190218022.
7
Some thoughts on the value of infant tests for assessing and predicting mental ability.关于婴儿测试在评估和预测智力方面价值的一些思考。
J Dev Behav Pediatr. 1989 Feb;10(1):44-7.
8
Aarskog syndrome: the changing phenotype with age.阿斯克格综合征:随年龄变化的表型
Am J Med Genet. 1992;43(1-2):420-7. doi: 10.1002/ajmg.1320430164.
9
Infant information processing in relation to six-year cognitive outcomes.
Child Dev. 1992 Oct;63(5):1126-41.
10
Aarskog syndrome: new oral-facial findings.阿斯克格综合征:新的口腔面部表现
Clin Genet. 1976 Jan;9(1):20-4. doi: 10.1111/j.1399-0004.1976.tb01545.x.