ImportanceDSM criteria are polythetic, allowing for heterogeneity of symptoms among individuals with the same disorder. In empirical research, most combinations were not found or only rarely found, prompting criticism of this heterogeneity.ObjectiveTo elaborate how symptom-based definitions and assessments contribute to a distinct probability pattern for the occurrence of symptom combinations.Design, Setting, and ParticipantsThis cross-sectional study involved a theoretical argument, simulation, and secondary data analysis of 4 preexisting datasets, each consisting of symptoms from 1 of the following syndromes: posttraumatic stress disorder, depression, schizophrenia, and anxiety. Data were obtained from various sources, including the National Institute of Mental Health Data Archive and Department of Veteran Affairs. A total of 155 474 participants were included (individual studies were 3930 to 63 742 individuals in size). Data were analyzed between July 2021 and January 2024.ExposureFor each participant, the presence or absence of each assessed symptom and their combination was determined. The number of all combinations and their individual frequencies were assessed.Main Outcome and MeasureProbability or frequency of unique symptom combinations and their distribution.ResultsAmong the 155 474 participants, the mean (SD) age was 47.5 (14.8) years; 33 933 (21.8%) self-identified as female and 121 541 (78.2%) as male. Because of the interrelation between symptoms, some symptom combinations were significantly more likely than others. The distribution of the combinations’ probability was heavily skewed with most combinations having a very low probability. Across all 4 empirical samples, the 1% most common combinations were prevalent in a total of 33.1% to 78.6% of the corresponding sample. At the same time, many combinations (ranging from 41.7% to 99.8%) were reported by less than 1% of the sample.Conclusions and RelevanceThis study found that within-disorder symptom heterogeneity followed a specific pattern consisting of few prevalent, prototypical combinations and numerous combinations with a very low probability of occurrence. Future discussions about the revision of diagnostic criteria should take this specific pattern into account by focusing not only on the absolute number of symptom combinations but also on their individual and cumulative probabilities. Findings from clinical populations using common diagnostic criteria may have limited generalizability to the large group of individuals with a low-probability symptom combination.

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重要性DSM 标准是多学科的，允许患有相同疾病的个体之间的症状异质性。在实证研究中，大多数组合没有被发现或很少被发现，这引发了对这种异质性的批评。目的阐述基于症状的定义和评估如何有助于症状组合发生的独特概率模式。设计、设置和参与者这项横断面研究涉及对 4 个预先存在的数据集的理论论证、模拟和二次数据分析，每个数据集都包含以下综合征之一的症状：创伤后应激障碍、抑郁症、精神分裂症和焦虑症。数据来自各种来源，包括国家心理健康数据档案研究所和退伍军人事务部。共纳入 155 474 名受试者（个体研究规模为 3930 至 63 742 名个体）。在 2021 年 7 月至 2024 年 1 月期间分析了数据。评估了所有组合的数量及其各自的频率。主要结果和测量独特症状组合的概率或频率及其分布。结果在 155 474 名参与者中，平均 （SD） 年龄为 47.5 （14.8） 岁;33 933 人 （21.8%） 自我认同为女性，121 541 人 （78.2%） 为男性。由于症状之间的相互关系，一些症状组合明显比其他症状组合更有可能。组合概率的分布严重偏斜，大多数组合的概率非常低。在所有 4 个实证样本中，1% 最常见的组合普遍存在，总数为 33.1% 至 78%。相应样品的 6%。同时，不到 1% 的样本报告了许多组合 （范围从 41.7% 到 99.8% 不等）。结论和相关性本研究发现，疾病内症状异质性遵循一种特定模式，该模式由少数普遍的原型组合和许多发生概率非常低的组合组成。未来关于诊断标准修订的讨论应考虑到这一特定模式，不仅关注症状组合的绝对数量，还关注它们的个体和累积概率。使用常见诊断标准的临床人群的发现可能对具有低概率症状组合的一大群个体的普遍性有限。