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本文引用的文献

1
Velo-cardio-facial syndrome: a review of 120 patients.心脏-颜面综合征:120例患者的综述
Am J Med Genet. 1993 Feb 1;45(3):313-9. doi: 10.1002/ajmg.1320450307.
2
Cardiac malformations in the velocardiofacial syndrome.腭心面综合征中的心脏畸形
Am J Cardiol. 1980 Oct;46(4):643-8. doi: 10.1016/0002-9149(80)90515-9.
3
The velo-cardio-facial syndrome: a clinical and genetic analysis.腭心面综合征:一项临床与遗传学分析。
Pediatrics. 1981 Feb;67(2):167-72.
4
Velo-cardio-facial syndrome: language and psychological profiles.心脏颜面综合征:语言和心理特征
J Craniofac Genet Dev Biol. 1985;5(3):259-66.
5
Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases.腭心面综合征的男性间传播:一例病例报告及60例病例回顾
J Craniofac Genet Dev Biol. 1985;5(2):175-80.
6
Computer-based reading and spelling practice for children with learning disabilities.针对学习障碍儿童的基于计算机的阅读和拼写练习。
J Learn Disabil. 1992 Mar;25(3):186-95. doi: 10.1177/002221949202500306.
7
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.迪乔治综合征的遗传病因:22q11的一致性缺失和微缺失
Am J Hum Genet. 1992 May;50(5):924-33.
8
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.一种涉及腭裂、心脏异常、典型面容和学习障碍的新综合征:腭心面综合征。
Cleft Palate J. 1978 Jan;15(1):56-62.

腭心面综合征:学习困难与干预

Velocardiofacial syndrome: learning difficulties and intervention.

作者信息

Kok L L, Solman R T

机构信息

Department of Education Studies, University of New South Wales, Kensington, Australia.

出版信息

J Med Genet. 1995 Aug;32(8):612-8. doi: 10.1136/jmg.32.8.612.

DOI:10.1136/jmg.32.8.612
PMID:7473652
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051635/
Abstract

Velocardiofacial syndrome, delineated in 1978 by Shprintzen, is a multiple genetic disorder, characterised primarily by cleft palate, cardiovascular anomalies, typical facies, and learning disorders. This syndrome with its recurrent pattern of anomalies has significant implications for education as it is linked to a variety of educationally relevant problems including learning difficulties, behaviour disorders, and speech and language deficits. While clinical research advances and new findings in cytogenetics enable early diagnosis and genetic counselling, ramifications of the syndrome in the field of education are still unknown. Learning difficulties should not be viewed solely as a pathological condition and with data on success of intervention, parents and teachers can be apprised of the information. This paper discusses academic characteristics and the effects of intervention with emphasis on interactive computer based instruction on the development of reading, language, spelling, and numeracy skills. Positive effects of computer based instruction on students' self-esteem, motivation, and competence in computer operational skills were also observed and noted. We are encouraged by the enthusiasms of the students for the system, the development of interest in reading, and the transfer of remedial instruction to classroom performance. Comparison of pretest and post-test results indicated significant improvement in reading ability as measured using Neale Analysis. This improvement is in accordance with results obtained using computer testing of specific subskills in reading/language and mathematics.

摘要

腭心面综合征由施普林曾于1978年首次描述,是一种多基因疾病,主要特征为腭裂、心血管异常、典型面容和学习障碍。这种具有反复出现异常模式的综合征对教育有着重大影响,因为它与各种与教育相关的问题有关,包括学习困难、行为障碍以及言语和语言缺陷。虽然临床研究的进展和细胞遗传学的新发现使得早期诊断和遗传咨询成为可能,但该综合征在教育领域的影响仍然未知。学习困难不应仅仅被视为一种病理状况,有了干预成功的数据,就可以让家长和教师了解相关信息。本文讨论了学术特征以及干预的效果,重点是基于交互式计算机的教学对阅读、语言、拼写和计算技能发展的影响。还观察并记录了基于计算机的教学对学生自尊、动机和计算机操作技能能力的积极影响。学生们对该系统的热情、对阅读兴趣的培养以及补救教学向课堂表现的转化让我们备受鼓舞。前测和后测结果的比较表明,使用尼尔分析测量,阅读能力有了显著提高。这一提高与使用阅读/语言和数学特定子技能的计算机测试所获得的结果一致。