Background

Limited extant research on neurocognitive endophenotypes in obsessive-compulsive disorder (OCD) show inconsistent results. Limitations of this body of literature include small sample sizes, strict exclusion criteria, lack of objective standard normalized test scores, and significant lack of studies utilizing pediatric probands. This study aimed to address these limitations.

Methods

A large carefully screened cohort of pediatric OCD (n = 102), their unaffected siblings (n = 78), and parents (n = 164), completed a neuropsychological battery. To compare participants at different ages and developmental stages, standard scores were computed using test norms. Cluster-robust regression with sample size-adjusted sandwich estimates of variance, and interclass correlations were computed. False Discovery Rate procedures were employed to correct for multiplicity.

Results

Probands, siblings and parents demonstrated deficient task performance (Z < −0.5) on the ‘number of trials to complete first category’ on the Wisconsin Card Sorting Test, and on the Stroop color naming trials. Compared to test norms, the three groups exhibited medium to large effect sizes on these outcome measures. No other meaningful familial trends were found.

Conclusions

OCD probands, their unaffected siblings and parents exhibited deficiencies in specific subdomains of cognitive flexibility and inhibitory control, namely, initial concept formation and proactive control, which may be valid candidate neurocognitive endophenotypes of OCD. No other meaningful familial effect has been found on other functions, including other executive function indices such as perseverations and interference control. These results highlight the need to carefully examine individual outcomes from executive function tests instead of the tendency to focus largely on major outcome measures.

中文翻译：

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儿科强迫症先证者及其未受影响的父母和兄弟姐妹的神经认知内表型

背景

现有的关于强迫症（OCD）神经认知内表型的有限研究显示出不一致的结果。该文献的局限性包括样本量小、排除标准严格、缺乏客观标准标准化测试分数以及严重缺乏利用儿科先证者的研究。本研究旨在解决这些局限性。

方法

一大群经过仔细筛选的儿科强迫症患者 ( n  = 102)、他们未受影响的兄弟姐妹 ( n  = 78) 和父母 ( n  = 164) 完成了神经心理学电池测试。为了比较不同年龄和发育阶段的参与者，使用测试规范计算标准分数。计算了样本量调整三明治方差估计的聚类稳健回归和类间相关性。采用错误发现率程序来纠正多重性。

结果

先证者、兄弟姐妹和父母在威斯康星卡片分类测试和斯特鲁普颜色命名试验的“完成第一类别的试验次数”中表现出不足的任务表现（Z < -0.5）。与测试标准相比，三组对这些结果指标表现出中等到大的影响。没有发现其他有意义的家庭趋势。

结论

强迫症先证者、他们未受影响的兄弟姐妹和父母在认知灵活性和抑制控制的特定子领域（即初始概念形成和主动控制）表现出缺陷，这可能是强迫症的有效候选神经认知内表型。没有发现其他有意义的家庭效应对其他功能，包括其他执行功能指数，如坚持和干扰控制。这些结果强调需要仔细检查执行功能测试的个体结果，而不是主要关注主要结果指标的倾向。