Reliability of best-estimate diagnosis in genetic linkage studies of major psychoses: results from the Quebec pedigree studies.
Reliability of best-estimate diagnosis in genetic linkage studies of major psychoses: results from the Quebec pedigree studies.
复制标题
主要精神病遗传连锁研究中最佳估计诊断的可靠性：魁北克系谱研究的结果。
DOI：
10.1176/ajp.149.12.1674
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发表时间：
1992
期刊：
影响因子：
--
通讯作者：
C. Dion
中科院分区：
文献类型：
--
作者：
M. Maziade;Marc;Fournier Jp;D. Cliche;Chantal Mérette;Chantal Caron;Y. Garneau;N. Montgrain;Christian L. Shriqui;C. Dion
客观化
诊断分类和可靠性在精神分裂症和双相情感障碍的遗传连锁研究中至关重要。为了建立一个最佳的诊断程序，作者从38个主要的连锁研究和研讨会报告中提取了13个方法学要素。他们根据这13个特征确定了一种共识最佳估计诊断方法的可靠性。
方法
59名受试者来自几个受精神分裂症或双相情感障碍影响较大的多基因家系，每个受试者都从该领域的非盲目诊断师和一个由四名研究精神病学家组成的小组那里得到了最佳估计的诊断，他们对先证者及其亲属的临床状况视而不见。最好的估计是基于个人诊断访谈、所有可用的医疗记录和家族史数据。
结果
现场团队和盲人精神科委员会的诊断符合率在整个样本中为78%到90%(kappa=0.83~0.88)，对于现场诊断的受试者为71%到87%(kappa=0.76~0.83)。非盲区诊断师的诊断偏向于诊断等级(精神分裂症或躁郁症)中更严重(或确定性)更高的水平，并与影响家系的最普遍的诊断更一致。
结论
由于以前的几项关联研究使用的诊断专家不是对先证者及其亲属的状况视而不见，或者没有使用共识的最佳估计诊断，因此需要对最佳估计方法的不同方面及其对关联研究的影响进行进一步的可靠性研究。鉴于诊断错误分类对遗传连锁结果的严重影响，此类研究势在必行。
OBJECTIVE
Diagnostic classification and reliability are critical in genetic linkage studies of schizophrenia and bipolar disorder. To establish an optimal diagnostic procedure, the authors drew 13 methodological elements from 38 major linkage studies and workshop reports. They determined reliability for a consensus best-estimate diagnostic method based on these 13 features.
METHOD
Each of 59 subjects from several large multiplex pedigrees, densely affected by either schizophrenia or bipolar disorder, received a best-estimate diagnosis from unblind diagnosticians in the field and also from a panel of four research psychiatrists who were blind to the proband's and relatives' clinical status. The best estimate was based on personal diagnostic interviews, all available medical records, and family history data.
RESULTS
The diagnostic concordance between the field team and the blind psychiatric board yielded 78% to 90% agreement for the whole sample (kappa = 0.83-0.88) and 71% to 87% agreement for the subjects given field diagnoses (kappa = 0.76-0.83). The diagnoses made by the unblind field diagnosticians were biased toward a greater severity (or certainty) level in the diagnostic hierarchy (schizophrenic or bipolar) and more consistency with the most prevalent diagnosis affecting the pedigree.
CONCLUSION
Since several previous linkage studies used diagnoses made by diagnosticians who were not blind to the status of the probands and the relatives or did not use a consensus best-estimate diagnosis, further reliability studies of different aspects of the best-estimate method and of its effect on linkage studies are needed. Such research is imperative given the serious impact of diagnostic misclassifications on genetic linkage results.
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影响因子：
--
作者：
M. Weissman;K. Merikangas;K. John;P. Wickramaratne;B. Prusoff;K. Kidd
通讯作者：
M. Weissman;K. Merikangas;K. John;P. Wickramaratne;B. Prusoff;K. Kidd
影响因子：
6.6
作者：
ANDREASEN, NC;FLAUM, M
通讯作者：
FLAUM, M
必要假设对躁狂抑郁症与 HLA 连锁分析的影响。
影响因子：
10.6
作者：
Kruger,SD;Turner,WJ;Kidd,KK
通讯作者：
Kidd,KK
多代谱系中双相情感障碍和重度抑郁症的分离和连锁分析。
影响因子：
4.8
作者：
Cox,N;Reich,T;Rice,J;Elston,R;Schober,J;Keats,B
通讯作者：
Keats,B
在大型双相情感障碍家族中，情感障碍与 HLA 无关。
影响因子：
6.6
作者：
Campbell,J;Crowe,RR;Goeken,N;Pfohl,B;Pauls,D;Palmer,D
通讯作者：
Palmer,D