LEARNING-DISABILITIES IN CHILDREN WITH SEX-CHROMOSOME ANOMALIES
LEARNING-DISABILITIES IN CHILDREN WITH SEX-CHROMOSOME ANOMALIES
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DOI：
10.2307/1129006
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发表时间：
1982-01-01
影响因子：
4.6
通讯作者：
ROBINSON, A
中科院分区：
文献类型：
--
作者：
PENNINGTON, BF;BENDER, B;ROBINSON, A
对临床人群的研究表明，遗传因素可能参与了学习障碍的病因学。本研究包括44名儿童（7-16岁）与性染色体异常（SCA），谁确定在10年的性染色体筛查的所有新生儿在2个大医院，因此代表了一个公正的样本的儿童与遗传病因。包括染色体正常的同胞（17）作为对照。所有受试者都接受了智商和成绩测试，并从父母和学校工作人员那里获得了广泛的、重复的学校历史。SCA儿童在学校遇到学习问题和接受特殊教育干预的风险增加。学习障碍的性质可能是染色体组型特异性的，尽管结果在染色体组型内不是不变的。45，X儿童表现出视觉空间缺陷，表现为较低的智商分数和书写问题的发生率增加，而47，XXY儿童则表现出言语语言缺陷，表现为较低的言语智商和阅读延迟的倾向。47，XXX儿童在大多数认知技能领域表现出更全面的延迟，尽管发育迟缓是罕见的。马赛克儿童相对不受他们的核型变异的影响，因此作为第二个对照组，防止负面的自我实现的预言的影响。学习障碍可能有遗传基础，尽管影响这一人群认知发展的特定生物学机制仍然难以捉摸。
Studies of clinical populations have suggested that genetic factors may be involved in the etiology of learning disabilities. The present study included 44 children (ages 7-16) with sex chromosome anomalies (SCA) who were identified in a 10 yr sex chromosome screening of all newborns in 2 large hospitals and thus represents an unbiased sample of children with a genetic etiology. Chromosomally normal siblings (17) are included as controls. All subjects were given IQ and achievement tests, and extensive, repeated school histories were taken from parents and school personnel. SCA children are at an increased risk for encountering learning problems and receiving special education intervention in school. The nature of the learning disabilities may be karyotype specific, although the results are not invariant within karyotypes. 45,X children demonstrate a visuo-spatial deficit as evidenced by lower-performance IQ scores and an increased incidence of handwriting problems, while 47,XXY children experience a verbal language deficit seen in lower verbal IQ and a tendency toward more reading delays. 47,XXX children demonstrate a more global delay crossing most cognitive skill areas, although retardation is rare. Mosaic children are relatively unaffected by their karyotypic variations and hence serve as a second control group which guards against the effects of a negative self-fulfilling prophecy. Learning disabilities can have a genetic basis, although the specific biological mechanism that affects cognitive development in this population remains elusive.