Woolway Grace E, Legge Sophie E, Lynham Amy, Smart Sophie E, Hubbard Leon, Daniel Ellie R, Pardiñas Antonio F, Escott-Price Valentina, O'Donovan Michael C, Owen Michael J, Jones Ian R, Walters James Tr
Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
medRxiv. 2023 Dec 8:2023.12.06.23299622. doi: 10.1101/2023.12.06.23299622.
Diagnoses in psychiatric research can be derived from various sources. This study assesses the validity of a self-reported clinical diagnosis of schizophrenia.
The study included 3,029 clinically ascertained participants with schizophrenia or psychotic disorders diagnosed by self-report and/or research interview and 1,453 UK Biobank participants with self-report and/or medical record diagnosis of schizophrenia or schizoaffective disorder depressed-type (SA-D). We assessed positive predictive values (PPV) of self-reported clinical diagnoses against research interview and medical record diagnoses. We compared polygenic risk scores (PRS) and phenotypes across diagnostic groups, and compared the variance explained by schizophrenia PRS to samples in the Psychiatric Genomics Consortium (PGC).
In the clinically ascertained sample, the PPV of self-reported schizophrenia to a research diagnosis of schizophrenia was 0.70, which increased to 0.81 when benchmarked against schizophrenia or SA-D. In UK Biobank, the PPV of self-reported schizophrenia to a medical record diagnosis was 0.74. Compared to self-report participants, those with a research diagnosis were younger and more likely to have a high school qualification (clinically ascertained sample) and those with a medical record diagnosis were less likely to be employed or have a high school qualification (UK Biobank). Schizophrenia PRS did not differ between participants that had a diagnosis from self-report, research diagnosis or medical record diagnosis. Polygenic liability r, for all diagnosis definitions, fell within the distribution of PGC schizophrenia cohorts.
Self-report measures of schizophrenia are justified in research to maximise sample size and representativeness, although within sample validation of diagnoses is recommended.
精神科研究中的诊断可来源于多种途径。本研究评估了自我报告的精神分裂症临床诊断的有效性。
该研究纳入了3029名通过自我报告和/或研究访谈确诊为精神分裂症或精神障碍的临床确诊参与者,以及1453名英国生物银行中通过自我报告和/或病历诊断为精神分裂症或抑郁型分裂情感障碍(SA-D)的参与者。我们根据研究访谈和病历诊断评估了自我报告临床诊断的阳性预测值(PPV)。我们比较了不同诊断组的多基因风险评分(PRS)和表型,并将精神分裂症PRS解释的方差与精神基因组学联盟(PGC)中的样本进行了比较。
在临床确诊样本中,自我报告的精神分裂症对精神分裂症研究诊断的PPV为0.70,以精神分裂症或SA-D为基准时增至0.81。在英国生物银行中,自我报告的精神分裂症对病历诊断的PPV为0.74。与自我报告参与者相比,研究诊断的参与者更年轻,更有可能具有高中学历(临床确诊样本),而病历诊断的参与者就业或具有高中学历的可能性较小(英国生物银行)。自我报告诊断、研究诊断或病历诊断的参与者之间的精神分裂症PRS没有差异。对于所有诊断定义,多基因负荷r均落在PGC精神分裂症队列的分布范围内。
在研究中,精神分裂症的自我报告测量方法对于最大化样本量和代表性是合理的,尽管建议对诊断进行样本内验证。