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注意缺陷多动障碍中多巴胺功能低下:基因分型是否预示着儿童的早期诊断?

Low dopamine function in attention deficit/hyperactivity disorder: should genotyping signify early diagnosis in children?

机构信息

Department of Psychiatry, School of Medicine and McKnight Brain Institute, University of Florida, Gainesville, FL.

出版信息

Postgrad Med. 2014 Jan;126(1):153-77. doi: 10.3810/pgm.2014.01.2735.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is present in 8% to 12% of children, and 4% of adults worldwide. Children with ADHD can have learning impairments, poor selfesteem, social dysfunction, and an increased risk of substance abuse, including cigarette smoking. Overall, the rate of treatment with medication for patients with ADHD has been increasing since 2008, with ≥ 2 million children now being treated with stimulants. The rise of adolescent prescription ADHD medication abuse has occurred along with a concomitant increase of stimulant medication availability. Of adults presenting with a substance use disorder (SUD), 20% to 30% have concurrent ADHD, and 20% to 40% of adults with ADHD have a history of SUD. Following a brief review of the etiology of ADHD, its diagnosis and treatment, we focus on the benefits of early and appropriate testing for a predisposition to ADHD. We suggest that by genotyping patients for a number of known, associated dopaminergic polymorphisms, especially at an early age, misdiagnoses and/or over-diagnosis can be reduced. Ethical and legal issues of early genotyping are considered. As many as 30% of individuals with ADHD are estimated to either have secondary side-effects or are not responsive to stimulant medication. We also consider the benefits of non-stimulant medication and alternative treatment modalities, which include diet, herbal medications, iron supplementation, and neurofeedback. With the goals of improving treatment of patients with ADHD and SUD prevention, we encourage further work in both genetic diagnosis and novel treatment approaches.

摘要

注意缺陷多动障碍(ADHD)在全球范围内见于 8%至 12%的儿童和 4%的成年人。患有 ADHD 的儿童可能存在学习障碍、自尊心差、社交功能障碍以及物质滥用风险增加,包括吸烟。总体而言,自 2008 年以来,ADHD 患者的药物治疗率一直在上升,现在有≥200 万名儿童接受兴奋剂治疗。青少年处方 ADHD 药物滥用的增加伴随着兴奋剂药物供应的增加。在出现物质使用障碍(SUD)的成年人中,20%至 30%同时患有 ADHD,20%至 40%的 ADHD 成年人有 SUD 病史。简要回顾 ADHD 的病因、诊断和治疗后,我们重点关注早期和适当检测 ADHD 易感性的益处。我们建议通过对许多已知的相关多巴胺能多态性进行基因分型,特别是在早期,减少误诊和/或过度诊断。考虑了早期基因分型的伦理和法律问题。估计多达 30%的 ADHD 患者要么有继发性副作用,要么对兴奋剂药物没有反应。我们还考虑了非兴奋剂药物和替代治疗方法的益处,包括饮食、草药药物、铁补充剂和神经反馈。为了改善 ADHD 和 SUD 预防患者的治疗,我们鼓励在基因诊断和新的治疗方法方面开展进一步的工作。

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