Autism and genetics. A decade of research.
Autism and genetics. A decade of research.
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DOI：
10.1001/archpsyc.1988.01800340081013
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发表时间：
1988-10
影响因子：
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通讯作者：
S. Smalley;R. Asarnow;M. Spence
中科院分区：
文献类型：
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作者：
S. Smalley;R. Asarnow;M. Spence
本文对近十年来有关儿童孤独症遗传学的研究进行了回顾。流行病学研究结果表明，自闭症是一种罕见的疾病，患病率为每10，000人中有2至5人，男女比例为3：1，并与智力迟钝有关（66%至75%的自闭症受试者具有全面的智商得分[70]）。孤独症是家族性的，反映在经验性的兄弟姐妹复发风险为3%，合并的同卵和异卵一致率分别为64%和9%，这远远高于0.02%至0.05%的人群患病率。遗传异质性是明显的潜在遗传亚群，包括常染色体隐性遗传，X连锁遗传，和散发性染色体异常。对自闭症亚临床标记的研究已经阐明了从DNA到行为水平的各种表型表达水平的潜在标记。连锁和细胞遗传学研究指出两个染色体区域作为推定的标记，9 q34和Xq 27。家族研究的结果支持一个假定的生化标记，低水平的血浆多巴胺β-羟化酶，和一个假定的认知标记，即正常的视觉空间，但低的语言功能，在自闭症。轻微身体异常的频率和智力迟钝的存在或不存在是身体和行为表型的两个维度，可以区分病因学上不同的亚组。遗传异质性是自闭症患病率存在性别差异的一种解释。应考虑进行可能富有成果的研究的方向。
The last ten years of research on the genetics of infantile autism were critically reviewed. Epidemiologic findings have shown that autism is a rare disorder with a prevalence of two to five per 10,000, a male-female ratio of 3:1, and an association with mental retardation (66% to 75% of autistic subjects have full-scale IQ scores [70]). Autism is familial, as reflected in an empiric sibling recurrence risk of 3% and pooled monozygotic and dizygotic concordance rates of 64% and 9%, respectively, which are much greater than the population prevalence of 0.02% to 0.05%. Genetic heterogeneity is pronounced with potential genetic subgroups, including autosomal recessive inheritance, X-linked inheritance, and sporadic chromosomal anomalies. Studies of subclinical markers in autism have elucidated potential markers at various levels of phenotypic expression from the DNA to the behavioral level. Linkage and cytogenetic studies point to two chromosome regions as putative markers, 9q34 and Xq27. Results of family studies support a putative biochemical marker, low levels of plasma dopamine-beta-hydroxylase, and a putative cognitive marker, ie, normal visuospatial but low verbal functioning, in autism. The frequency of minor physical anomalies and presence or absence of mental retardation are two dimensions of the physical and behavioral phenotype that may demark etiologically distinct subgroups. Genetic heterogeneity is offered as one explanation of the observed sex difference in the prevalence of autism. Directions for potentially fruitful research should be considered.