GENETIC STUDY OF ATTENTION DEFICIT HYPERACTIVITY DISORDER

注意力缺陷多动障碍的遗传学研究

• 批准号: 6276566
• 负责人: MARILYN A DAVIES
• 金额: $ 1.83万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6276566
• 关键词: attention deficit disorder; behavioral /social science research tag; behavioral genetics; catecholamines; child (0-11); clinical research; developmental neurobiology; family genetics; genetic disorder diagnosis; human subject; molecular genetics; phenotype

Attention-deficit hyperactivity disorder (ADHD) is the most commonly diagnosed psychiatric disorder of childhood. ADHD is characterized by inattention, hyperactivity, distractibility, nd other disruptive behaviors. Studies show that ADHD persists into adulthood in 10%-60% of childhood-onset cases with many dults showing high levels of comorbidity. In the majority of ADHD cases, no etiology has been determined. Discussions and research on the leading causes of ADHD focus on genetic factors, perinatal factors, infections and neurobiologic events. Studies over the past 30 years indicate that genetics is of etiological importance in this illness. Recent neurobiological findings and results from assoication studies suggest that genes associated with catecholamine mechanisms or neurodevelopmental processes may be involved in the etiology of ADHD. The herogeneity of ADHD suggests an etiology which could involve several different mutations at several loci or, alternatively, several genes could act together with each having a small effect. Given these parameters, it may be more dvantageous to rely on large samples of smaller, homogenous families rather than a heterogenous group of families or large pedigrees, both of which could obscure genetic mechanisms. This study will explore the genetic and molecular mechanisms involved in ADHD. the specific aims include: (1) case identification of probands with ADHD; (2) careful differential diagnosis after initial presentation with proper identification of comorbid conditions; (3) collectioin of a large sample of nuclear families who are well characterized ans subtyped by fmily history and phenotype definitions; (4) application of molecular genetic techniques to examine loci involved in catecholamine mechanisms and neuro- developmental processes related to attention systems.

注意力缺陷多动障碍（ADHD）是最常见的 被诊断患有儿童期精神障碍。 多动症的特点是 注意力不集中、多动、注意力分散和其他破坏性行为 行为。 研究表明，10%-60% 的人患有 ADHD 并持续到成年 儿童期发病的病例中，许多成年人表现出高水平 合并症。 在大多数 ADHD 病例中，尚无病因学 决定。 ADHD主要原因的讨论和研究 重点关注遗传因素、围产期因素、感染和 神经生物学事件。 过去30年的研究表明 遗传学在这种疾病中具有重要的病因学意义。 最近的 神经生物学发现和关联研究结果表明 与儿茶酚胺机制相关的基因或 神经发育过程可能与 ADHD 的病因有关。 ADHD 的异质性表明其病因可能涉及多种因素 多个位点或多个基因的不同突变 可以一起作用，每个作用都有很小的影响。 鉴于这些 参数，依赖大样本可能更有利 较小的、同质的家庭，而不是异质的群体 家庭或大谱系，两者都可能掩盖遗传 机制。 本研究将探讨遗传和分子 ADHD 涉及的机制。具体目标包括：（1）案例 识别患有 ADHD 的先证者； (2)仔细鉴别诊断 在初次就诊并正确识别共病后 状况; （3）大量核心家庭样​​本的收集 具有良好的特征并根据家族史和表型进行亚型分类 定义； (4)分子遗传学技术的应用 检查涉及儿茶酚胺机制和神经的基因座 与注意力系统相关的发育过程。