Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, Nashville, TN 37232-9003, USA.
J Autism Dev Disord. 2012 Aug;42(8):1582-91. doi: 10.1007/s10803-011-1398-3.
Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.
遗传检测推荐用于 ASD 患者；然而，具体建议因专业而异。美国儿科学会和美国神经病学学会指南推荐 G 带核型分析和脆性 X DNA 检测。美国医学遗传学学院推荐染色体微阵列分析（CMA）。我们在一个主要的儿科自闭症诊所中确定了 CMA（N=85）、核型（N=119）和脆性 X（N=174）检测的检出率。我们发现二十名（24%）患者的 CMA 结果异常（其中八名具有临床意义），三名核型异常，一名脆性 X 综合征患者。CMA 结果与认知水平、癫痫、发育异常、先天性畸形或行为之间没有关系。我们得出结论，CMA 应该成为所有专业在 ASD 中进行一线遗传检测的临床标准。
