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神经发育障碍中精准医学进展的最新情况

An Update on Precision Medicine Advances In Neurodevelopmental Disorders.

作者信息

Lapato Dana M, Moore Ashlee A, Findling Robert, Brown Ruth C, Roberson-Nay Roxann

机构信息

Department of Human and Molecular Genetics, Virginia Commonwealth University.

Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University.

出版信息

Psychiatr Ann. 2021 Apr;51(4):175-184. doi: 10.3928/00485713-20210309-01.

Abstract

Neurodevelopmental disorders, including autism spectrum disorder (ASD) and attention-deficit/hyper-activity disorder (ADHD), represent a group of conditions that manifest early in child development and produce impairments across multiple domains of functioning. Although a number of pharmacological and psychosocial treatments exist to improve the symptoms associated with these syndromes, treatment advances have lagged. The Precision Medicine Initiative was launched with the goal of revolutionizing medicine by progressing beyond the historical one-size-fits-all approach. In this review, we evaluate current research efforts to personalize treatments for ASD and ADHD. Most pharmacogenetic testing has focused on the cytochrome P450 enzyme family with a particular focus on CYP2D6 and CYP2C19, which are genes that produce an enzyme that acts as a key metabolizer of many prescribed medications. This article provides an update on the state of the field of pharmacogenetics and "therapy-genetics" in the context of ASD and ADHD, and it also encourages clinicians to follow US Food and Drug Administration recommendations regarding pharmacogenetic testing.

摘要

神经发育障碍,包括自闭症谱系障碍(ASD)和注意力缺陷多动障碍(ADHD),是一组在儿童发育早期出现并在多个功能领域产生损害的病症。尽管有多种药物和心理社会治疗方法可改善与这些综合征相关的症状,但治疗进展一直滞后。精准医学计划的启动旨在超越传统的一刀切方法,从而彻底变革医学。在本综述中,我们评估了当前为ASD和ADHD个性化治疗所做的研究工作。大多数药物遗传学检测都集中在细胞色素P450酶家族,尤其关注CYP2D6和CYP2C19,这两个基因所产生的酶是许多处方药的关键代谢酶。本文介绍了在ASD和ADHD背景下药理学遗传学和“治疗遗传学”领域的最新状况,同时也鼓励临床医生遵循美国食品药品监督管理局关于药物遗传学检测的建议。

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