Payton J B, Steele M W, Wenger S L, Minshew N J
J Am Acad Child Adolesc Psychiatry. 1989 May;28(3):417-21. doi: 10.1097/00004583-198905000-00019.
Recent reports link the fragile X chromosome abnormality to autism, with the association ranging from 0 to 53%, but the diagnostic criteria for autism were unclear in some of the studies. The need for fragile X chromosome studies in larger populations of autistic children and adults was recognized. In this study, chromosome analyses were performed on 85 carefully diagnosed autistic males, yielding a 2.4% incidence of the fragile X abnormality. It is concluded that the incidence of the fragile X chromosome abnormality in autistic individuals is likely the same as that in the mentally retarded male population and therefore does not increase the risk for autism above that of mental retardation itself.
近期报告将脆性X染色体异常与自闭症联系起来，关联度在0%至53%之间，但部分研究中自闭症的诊断标准并不明确。人们认识到需要在更多自闭症儿童和成人中开展脆性X染色体研究。在本研究中，对85名经过仔细诊断的自闭症男性进行了染色体分析，脆性X异常的发生率为2.4%。研究得出结论，自闭症个体中脆性X染色体异常的发生率可能与智力发育迟缓男性群体相同，因此不会使自闭症风险高于智力发育迟缓本身的风险。
