There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6–25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The “normative” class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The “cognitive” class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The “behavioral” class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the “normative” class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed.

中文翻译：

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捕捉唐氏综合症患者的认知和行为变异：潜在概况分析


唐氏综合症的表型存在高度的个体间和个体内变异性。唐氏综合症认知项目的成立是为了捕捉这种变异性，该项目开发了一个全国范围内的大型数据库，其中包含 6-25 岁唐氏综合症患者的认知、行为、健康和遗传信息。当前的研究使用唐氏综合症认知项目数据库来描述唐氏综合症患者的认知和行为变异性。潜在概况分析用于根据 314 名参与者的认知（智商和执行功能）、适应性和适应不良行为以及自闭症谱系障碍症状来识别他们的类别。多元多项回归模型同时检查了阶级的人口统计学相关性。结果支持 3 类模型。每个班级都在认知和行为的子领域表现出独特的特征。 “规范”类别人数最多（n = 153，48%），表现出相对一致的认知和适应行为，适应不良行为和自闭症症状的发生率较低。 “认知”类别（n = 109，35%）表现出较低的认知得分和适应性行为以及更多的自闭症症状，但适应不良行为的发生率较低。 “行为”类别是最小的群体（n = 52，17%），表现出较高的适应不良行为和自闭症症状发生率，但认知水平与“规范”类别相似；他们的适应性行为得分介于其他两类之间。家庭收入和性别是唯一存在阶级差异的人口变量。 这些发现强调了对唐氏综合症患者的认知和行为表型进行亚型分类的重要性，以便为未来的干预和病因学研究确定更同质的类别。结果还证明了使用潜在特征分析来区分该人群中的亚型的可行性。讨论了局限性和未来的方向。