University of California, San Diego, CA.
Naval Medical Center, San Diego, CA.
J Am Acad Child Adolesc Psychiatry. 2019 Mar;58(3):376-377. doi: 10.1016/j.jaac.2018.09.432.
Genomic testing, including whole exome sequencing (WES), can result in specific changes to medical management. To illustrate the clinical utility of WES for complex neuropsychiatric disease, we report a male adolescent with autism spectrum disorder, psychosis, and regression and discuss how the WES findings guided his pharmacologic management.
基因组检测，包括外显子组测序（WES），可能导致医疗管理的具体变化。为了说明 WES 在复杂神经精神疾病中的临床应用价值，我们报告了一名患有自闭症谱系障碍、精神病、退行性疾病的男性青少年，并讨论了 WES 结果如何指导他的药物治疗管理。
