多巴胺D1受体基因多态性与注意缺陷多动障碍的相关性研究

目的:探讨多巴胺D1受体(Dopamine D1 receptor, DRD1)基因启动子区G-48A、外显子区T1403C两个SNP位点与注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)的关联性.方法:选取87名ADHD患者和103名正常对照,提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测G-48A和T1403C两个多态性位点的基因型,SPSS13.0软件分析各位点的等位基因及基因型频率.结果:DRD1的G-48A基因型及等位基因频率分布在ADHD和对照组之间有统计学差异(p<0.05),ADHD组中等位基因A频率显著高于正常组(p<0.05).T1403C位点基因型及等位基因频率在ADHD组与健康对照组无统计学差异.结论:DRD1基因G-48A多态性可能与ADHD的发病有关,携带有等位基因A的个体可能更容易患ADHD.T1403C多态性与ADHD的发病无明显相关性.     

多巴胺D4受体基因与注意缺损多动障碍

为探讨注意缺损多动障碍（ADHD）与多巴胺D4受体基因（dopamine D4 receptor gene,DRD4)间的关系,采用Amp-FLP的方法检测了上海地区汉族人群中68例ADHD患及其父母DRD4的多态性,数据采用基于单体型的单体型相对风险（HHRR）及传递不平衡检验（TDT）进行遗传关联分析。结果表明HHRR分析和复等位基因的TDT检验,均未显示出与ADHD的遗传关联性（P＞0．05）。提示上海地区人群中DRD4基因与ADHD无显性关联。     

多巴胺D4受体基因启动子区多态性与精神分裂症的相关性

目的:探讨多巴胺D4受体(Dopaminc D4 receptor,DRD4)基因启动子区的3个功能多态性与精神分裂症是否存在相关性.方法:严格按照诊断标准,选取无亲缘关系的精神分裂症患者220例,健康对照组200例提取基因组DNA,采用聚合酶链反应及等位基因特异性扩增技术检测DRD4基因启动子区-521C/T、-616C/G和-1240L/S 3个功能位点的基因型,采用HaploView4.0及SPSS11.5软件分析各位点基因型、等位基因频率及组间差异.结果:DRD4基因-1240L/S的基因型及等位基因频率分布在精神分裂症与正常对照组存在显著性差异(p<0.05).DRIM基因启动子区-521C/T和-616C/G位点的基因型及等位基因频率分布在精神分裂症组与正常对照组无统计学差异(p>0.05).结论:DRD4基因-1240L/S多态性与精神分裂症相关联,携带有-1240L/S多态性住点L等住基因的个体可能更容易患精神分裂症.     

多巴胺D4受体基因与注意缺损多动障碍

为探讨注意缺损多动障碍(ADHD)与多巴胺D4受体基因(dopamineD4receptorgene,DRD4)间的关系,采用Amp-FLP的方法检测了上海地区汉族人群中68例ADHD患者及其父母DRD4的多态性,数据采用基于单体型的单体型相对风险(HHRR)及传递不平衡检验(TDT)进行遗传关联分析.结果表明HHRR分析和复等位基因的TDT检验,均未显示出与ADHD的遗传关联性(P＞0.05).提示上海地区人群中DRD4基因与ADHD无显著性关联。 Abstract:The present study was designed to investigate the association between attention-deficit hyperactivity disorder (ADHD) and the dopamine D4 receptor gene (DRD4).Amp-FLP was used to test the polymorphisms of DRD4 in 68 ADHD children and their parents from Shanghai.The haplotype-based haplotype relative risk (HHRR) and transmission disequilibrium test (TDT) methods were used to analyze the association between DRD4 and ADHD.In our samples we found no significant association between DRD4 and ADHD (P>0.05).Our results do not support that ADHD is associated with DRD4 in population in Shanghai.     

多巴胺D4受体基因启动子区功能多态性与海洛因依赖的相关性研究

目的:探讨多巴胺D4受体(DRD4)基因启动子区的3个功能多态性位点与海洛因依赖的相关性.方法:严格按照诊断标准,选取无亲缘关系的海洛因依赖患者212例及健康对照组200例提取基因组DNA,采用聚合酶链反应及等位基因特异性扩增技术检测DRD4基因启动子区-521C/T、-616C/G、及-1240L/S 3个功能多态性位点的基因型,采用HaploView及SPSS11.5软件分析各位点基因型、等位基因频率及组间差异.结果:DRD4基因-521C/T的基因型及等位基因频率分布在海洛因依赖组与正常对照组存在显著性差异(p＜0.05).结论:多巴胺D4受体(DRD4)基因-521C/T多态性与海洛因依赖相关联,T等位基因可能是海洛因依赖的风险因子.     

注意缺陷损多动障碍关联于DXS7位点

采用单体型相对风险和传递／不平衡检验方法,在中国人群中对注意中对注意缺陷损多动障碍（ＡＤＰＤ）与ＤＸＳ７位点进行了遗传关联分析。     

多巴胺D2受体基因多态性位点与海洛因依赖的关系

目的:探讨多巴胺D2受体(Dopamine D2 receptors,DRD2)基因3'非翻译区Taq ⅠA、启动子区-141 Ins/Del 2个多态性位点和海洛因依赖的相关性.方法:采用聚合酶链反应-限制性片段长度多态(PCR-RFLP)技术检测320例海洛因依赖患者及300例健康对照组的TaqⅠA和-141 Ins/Del2个多态性位点的基因型.采用HaploView4.0及SPSS11.5软件分析这2个多态性位点的基因型、等位基因频率及组间差异.结果:DRD2基因Taq ⅠA位点的基因型及等位基因频率分布在海洛因依赖组与正常对照组存在显著性差异(p<0.01),海洛因依赖组TaqⅠA位点的等位基因A1频率显著高于正常对照组(x2=11.156,p=0.001,OR=1.463,95%CI=1.170～1.830);DRD2基因-141 Ins/Del位点的基因型及等位基因频率分布在海洛因依赖组与正常对照组之间无统计学差异(p<0.05).结论:DRD2基因TaqⅠA位点多态性可能与海洛因依赖有关,携带有TaqⅠA多态性位点A1等位基因的个体可能更容易对海洛因产生依赖.     

脑源性神经营养因子基因多态性与注意缺陷多动障碍的关联性研究

目的：探讨脑源性神经营养因子（Brain-derivedneurotrophicfactor,BDNF）G196A、C270T及Val66Met3个单核苷酸多态性（SNP）位点与注意缺陷多动障碍（ADHD）的关系。方法：选取无亲缘关系的ADHD患者共114例,健康对照共96例。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测G196A、C270T和Val66Met3个多态性位点的多态性,采用HaploView4.0及SPSS13.0软件进行连锁不平衡分析并比较两组基因型分布和等位基因频率。结果：BDNF三个多态性位点基因型及等位基因频率分布均符合Hardy-Weinberg定律。ADHD组G196A和C270T多态性位点分布与正常对照组比较差异无统计学意义,而BDNF基因Val66Met位点的基因型及等位基因频率分布在ADHD组与对照组存在显著性差异（p〈0.05）,ADHD组Val66Met位点的等位基因G（Val）频率显著高于正常对照组。结论：BDNF基因Val66Met多态性可能与ADHD发病有关,携带有Val66Met多态性位点G等位基因的个体可能更容易产生ADHD。     

脑源性神经营养因子基因多态性与注意缺陷多动障碍的关联性研究

目的:探讨脑源性神经营养因子(Brain-derivedneurotrophicfactor,BDNF)G196A、C270T及Val66Met3个单核苷酸多态性(SNP)位点与注意缺陷多动障碍(ADHD)的关系。方法:选取无亲缘关系的ADHD患者共114例,健康对照共96例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测G196A、C270T和Val66Met3个多态性位点的多态性,采用HaploView4.0及SPSS13.0软件进行连锁不平衡分析并比较两组基因型分布和等位基因频率。结果:BDNF三个多态性位点基因型及等位基因频率分布均符合Hardy-Weinberg定律。ADHD组G196A和C270T多态性位点分布与正常对照组比较差异无统计学意义,而BDNF基因Val66Met位点的基因型及等位基因频率分布在ADHD组与对照组存在显著性差异(p<0.05),ADHD组Val66Met位点的等位基因G(Val)频率显著高于正常对照组。结论:BDNF基因Val66Met多态性可能与ADHD发病有关,携带有Val66Met多态性位点G等位基因的个体可能更容易产生ADHD。     

注意缺陷多动障碍儿童睡眠障碍与铁缺乏关系 的临床研究

目的:探讨注意缺陷多动障碍(ADHD)患儿睡眠障碍与血清铁蛋白水平的关系。方法:符合美国精神疾病诊断与统计手册第4版(DSM-Ⅳ)中ADHD诊断标准的62例6-14岁ADHD患儿,由ADHD患儿的父母填写睡眠障碍量表(SDSC),检测ADHD患儿的血清铁蛋白水平。结果:与血清铁蛋白水平高于45μg/L的ADHD患儿相比较,血清铁蛋白水平低于45μg/L的ADHD患儿的SDSC"睡眠醒觉转换障碍"项评分和总分明显高于前者(P<0.05)。2组间其他项评分比较无显著性差异(P>0.05)。SDSC"睡眠醒觉转换障碍"项评分与血清铁蛋白水平成负相关(P<0.05)。结论:血清铁蛋白水平低于45μg/LADHD患儿SDSC"睡眠醒觉转换障碍"(睡眠中的异常运动)的危险性显著增加。     

Perception in attention deficit hyperactivity disorder

A large body of research demonstrated that individuals with attention deficit hyperactivity disorder (ADHD) suffer from various neuropsychological deficits. In contrast, less is known and only divergent evidence exists on perceptual functions of individuals with ADHD. This is problematic as neuropsychological and perceptual functions are closely interrelated and are often difficult to disentangle in behavioral assessments. This study presents the conduct and results of a systematic literature review on perceptual functions in children and adults with ADHD. This review considers studies using psychophysical methods (objective measurements) and self- and informant reports (subjective measurements). Results indicate that individuals with ADHD have altered perceptual functions in various domains as compared to typically developing individuals. Increased perceptual functions in individuals with ADHD were found with regard to olfactory detection thresholds, whereas reduced perceptual functions were evident for aspects of visual and speech perception. Moreover, individuals with ADHD were found to experience discomfort to sensory stimuli at a lower level than typically developing individuals. Alterations of perceptual functions in individuals with ADHD were shown to be moderated by various factors, such as pharmacological treatment, cognitive functions, and symptom severity. We conclude by giving implications for daily life functioning and clinical practice.     

Stigma in attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder (ADHD) is a frequently diagnosed disorder in child- and adulthood with a high impact affecting multiple facets of social life. Therefore, patients suffering from ADHD are at high risk to be confronted with stigma, prejudices, and discrimination. A review of the empirical research in the field of ADHD with regard to stigma was performed. The findings of investigations in this field were clustered in different categories, including stigma in children with ADHD, stigma in adults with ADHD, stigma in relatives or in people close to a patient with ADHD, and the influence of stigma on authorities' attitudes toward patients with ADHD. Variables identified to contribute to stigma in ADHD are public's uncertainty concerning the reliability/validity of an ADHD diagnosis and the related diagnostic assessment, public's perceived dangerousness of individuals with ADHD, socio-demographical factors as age, gender, and ethnicity of the respondent or the target individual with ADHD, stigmatization of ADHD treatment, for example public's skepticism toward ADHD medication and disclosure of diagnostic status as well as medication status of the individual with ADHD. The contribution of stigma associated with ADHD can be conceptualized as an underestimated risk factor, affecting treatment adherence, treatment efficacy, symptom aggravation, life satisfaction, and mentally well-being of individuals affected by ADHD. Public as well as health professionals' concepts about ADHD are highly diverse, setting individuals with an ADHD diagnosis at greater risk to get stigmatized.     

Detection of malingered attention deficit hyperactivity disorder

The aim of the present study was to determine whether malingering of adult attention deficit hyperactivity disorder (ADHD) can be detected using a self-report rating scale. A sample of 78 university students was allocated to three different conditions. The conditions were (a) a control group, (b) a na?ve simulation group and (c) a coached simulation group. Furthermore, 12 adult students with a diagnosed ADHD participated in the present study. Participants were administered the Brown Attention Deficit Disorder Scale for Adults. While the control group and the patient group were asked to complete the scale with accuracy, the simulation groups were requested to feign an ADHD. Statistical analysis revealed that both simulation groups were able to successfully feign an ADHD. The results indicate that self-report rating measures are not sensitive enough to allow the detection of feigned ADHD.     

Training of attention functions in children with attention deficit hyperactivity disorder

Pharmacological treatment of children with ADHD has been shown to be successful; however, medication may not normalize attention functions. The present study was based on a neuropsychological model of attention and assessed the effect of an attention training program on attentional functioning of children with ADHD. Thirty-two children with ADHD and 16 healthy children participated in the study. Children with ADHD were randomly assigned to one of the two conditions, i.e., an attention training program which trained aspects of vigilance, selective attention and divided attention, or a visual perception training which trained perceptual skills, such as perception of figure and ground, form constancy and position in space. The training programs were applied in individual sessions, twice a week, for a period of four consecutive weeks. Healthy children did not receive any training. Alertness, vigilance, selective attention, divided attention, and flexibility were examined prior to and following the interventions. Children with ADHD were assessed and trained while on ADHD medications. Data analysis revealed that the attention training used in the present study led to significant improvements of various aspects of attention, including vigilance, divided attention, and flexibility, while the visual perception training had no specific effects. The findings indicate that attention training programs have the potential to facilitate attentional functioning in children with ADHD treated with ADHD drugs.     

Role of neurotrophic factors in attention deficit hyperactivity disorder

Neurotrophins (NTs), a family of proteins including nerve growth factor, brain-derived neurotrophic factor (BDNF), neurotrophin-3, and neurotrophin-4, are essential for neural growth, survival, and differentiation, and are therefore crucial for brain development. Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by problems of inattention and/or hyperactivity-impulsivity. ADHD is one of the most common childhood onset psychiatric disorders. Studies have suggested that both genetic and environmental factors influence the development of the disorder, although the precise causes of ADHD have not yet been identified. In this review, we assess the role of NTs in the pathophysiology of ADHD. Preclinical evidence indicates that BDNF knockout mice are hyperactive, and an ADHD rodent model exhibited decreased cerebral BDNF levels. Several lines of evidence from clinical studies, including blood level and genetic studies, have suggested that NTs are involved in the pathogenesis of ADHD and in the mechanism of biological treatments for ADHD. Future directions for research are proposed, such as using blood NTs as ADHD biomarkers, optimizing NT genetic studies in ADHD, considering NTs as a link between ADHD and other comorbid mental disorders, and investigating methods for optimally modulating NT signaling to discover novel therapeutics for treating ADHD.     

Increased oxidative stress in children with attention deficit hyperactivity disorder

Objectives: The purpose of this study was to investigate oxidative stress in children with attention deficit hyperactivity disorder (ADHD).

Methods: Total oxidant status (TOS), total antioxidant status (TAS), paraxonase-1 (PON-1) and arylesterase (ARE) activity were measured in 76 children (44 boys, 32 girls) diagnosed with ADHD according to the DSM-IV and 78 healthy children (46 boys, 32 girls).

Results: Age and sex were similar between the groups (P?>?0.05). TOS and the oxidative stress index (OSI) were higher in the patient group than the control group (P?<?0.001). PON-1 (P?=?0.002), ARE (P?=?0.010) activity and TAS (P?<?0.001) were lower in the patient group than the control group.

Discussion: We found decreased PON-1, ARE activity and TAS, and increased TOS and OSI in children with ADHD. Our study showed that there is significantly increased oxidative stress in children with ADHD.