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自闭症与线粒体疾病。

Autism and mitochondrial disease.

作者信息

Haas Richard H

机构信息

Department of Neurosciences, UCSD Mitochondrial and Metabolic Disease Center, University of California-San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA.

出版信息

Dev Disabil Res Rev. 2010;16(2):144-53. doi: 10.1002/ddrr.112.

Abstract

Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears to be increased in incidence and prevalence. Similarly, mitochondrial disorders are increasingly recognized. Although overlap between these disorders is to be expected, accumulating clinical, genetic, and biochemical evidence suggests that mitochondrial dysfunction in ASD is more commonly seen than expected. Some patients with ASD phenotypes clearly have genetic-based primary mitochondrial disease. This review will examine the data linking autism and mitochondria.

摘要

根据修订后的《精神疾病诊断与统计手册:DSM-IV-TR标准》(美国精神病学协会[2000年],华盛顿特区:美国精神病学出版社)所定义的自闭症谱系障碍(ASD),表现为3岁前语言发育和社交能力受损,并伴有重复行为的发展,其发病率和患病率似乎在上升。同样,线粒体疾病也越来越受到认可。虽然预计这些疾病之间会有重叠,但越来越多的临床、遗传和生化证据表明,ASD中线粒体功能障碍的出现比预期更为常见。一些具有ASD表型的患者显然患有基于遗传的原发性线粒体疾病。本综述将审视将自闭症与线粒体联系起来的数据。

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