Relationship between endophenotype and phenotype in ADHD
Relationship between endophenotype and phenotype in ADHD
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ADHD内表型与表型的关系
DOI：
--
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发表时间：
2008
影响因子：
5.1
通讯作者：
J. Oosterlaan
中科院分区：
文献类型：
--
作者：
N. Rommelse;M. Altink;N. Martin;C. Buschgens;S. Faraone;J. Buitelaar;J. Sergeant;J. Oosterlaan
研究背景人们假设遗传和环境因素通过称为内表型的中介作用与精神疾病相关。这项研究有三个目标：检查内表型结构对ADHD诊断的预测有效性，测试内表型和表型水平的组间差异大小是否具有可比性，并研究四个因素是否（性别、年龄、智商、评价者偏差）有影响对143名ADHD儿童进行了10项神经认知任务，68名未受影响的兄弟姐妹和120名对照儿童（第一组）和132名ADHD儿童，78名未受影响的兄弟姐妹和113名对照（第二组）（5 - 19岁）。任务措施已被调查以前为他们的endophenotypic的活力，并结合到一个组件被标记为“的endophenotypic建设”：一个措施代表endophenotypic功能在几个领域的functioning.ResultsThe endophenotypic建设分类儿童具有中等的准确性（约50%的三组）。未受影响的儿童与对照组在表型水平上的差异一样大，但受影响的儿童表现出比表型更严重的表型。虽然一个潜在的调节效应（年龄）和几个中介效应（性别、年龄、智商）影响内表型结构和表型之间的关系，但没有一种影响可以解释受影响儿童具有比内表型更严重的表型。尽管研究结果表明，在受影响的儿童、未受影响的兄弟姐妹和对照组中，内在表型功能之间存在大量重叠。结果表明，其他因素可能是至关重要的，并加重了受影响儿童的ADHD症状。
BackgroundIt has been hypothesized that genetic and environmental factors relate to psychiatric disorders through the effect of intermediating, vulnerability traits called endophenotypes. The study had a threefold aim: to examine the predictive validity of an endophenotypic construct for the ADHD diagnosis, to test whether the magnitude of group differences at the endophenotypic and phenotypic level is comparable, and to investigate whether four factors (gender, age, IQ, rater bias) have an effect (moderation or mediation) on the relation between endophenotype and phenotype.MethodsTen neurocognitive tasks were administered to 143 children with ADHD, 68 non-affected siblings, and 120 control children (first-borns) and 132 children with ADHD, 78 non-affected siblings, and 113 controls (second-borns) (5 – 19 years). The task measures have been investigated previously for their endophenotypic viability and were combined to one component which was labeled 'the endophenotypic construct': one measure representative of endophenotypic functioning across several domains of functioning.ResultsThe endophenotypic construct classified children with moderate accuracy (about 50% for each of the three groups). Non-affected children differed as much from controls at the endophenotypic as at the phenotypic level, but affected children displayed a more severe phenotype than endophenotype. Although a potentially moderating effect (age) and several mediating effects (gender, age, IQ) were found affecting the relation between endophenotypic construct and phenotype, none of the effects studied could account for the finding that affected children had a more severe phenotype than endophenotype.ConclusionEndophenotypic functioning is moderately predictive of the ADHD diagnosis, though findings suggest substantial overlap exists between endophenotypic functioning in the groups of affected children, non-affected siblings, and controls. Results suggest other factors may be crucial and aggravate the ADHD symptoms in affected children.
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DOI：
10.1097/00004583-199808000-00015
发表时间：
1998-08-01
影响因子：
13.3
作者：
Hudziak, JJ;Heath, AC;Todd, RD
通讯作者：
Todd, RD
影响因子：
--
作者：
Kendler, KS;Prescott, CA;Neale, MC
通讯作者：
Neale, MC
诊断准确性和连锁分析：精神分裂症谱系表型有多大用处？
DOI：
10.1176/ajp.152.9.1286
发表时间：
1995
期刊：
The American journal of psychiatry.
影响因子：
--
作者：
Faraone,SV;Kremen,WS;Lyons,MJ;Pepple,JR;Seidman,LJ;Tsuang,MT
通讯作者：
Tsuang,MT
影响因子：
4.6
作者：
Nigg, JT;Blaskey, LG;Sachek, J
通讯作者：
Sachek, J
DOI：
10.1037/0096-1523.30.3.538
发表时间：
2004-06-01
影响因子：
2.1
作者：
Godijn, R;Theeuwes, J
通讯作者：
Theeuwes, J