Child Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.
J Child Psychol Psychiatry. 2012 May;53(5):510-8. doi: 10.1111/j.1469-7610.2011.02478.x. Epub 2011 Nov 8.
It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette's Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments.
人们希望 DSM-5 中的儿童精神障碍诊断指南和治疗方法能够借鉴与神经发育障碍相关的丰富临床遗传研究。尽管遗传技术取得了显著进步，但实际情况并非如此。针对注意力缺陷多动障碍（ADHD）、自闭症、妥瑞氏症和精神分裂症，已经开展了候选基因、全基因组关联和罕见拷贝数变异（CNV）研究，结果引人注目，但环境因素、不完全外显率、多效性和遗传异质性，这些因素都限制了任何给定表型的临床转化。一种有前途的方法可能是使用发育性脑成像测量作为更相关的表型。这一点尤其重要，因为大脑发育相关基因途径的时间和表达的细微异常很可能将这些疾病联系起来，并成为治疗的最终目标。
