Attention, Memory, and Executive Function in Fragile X

虽然大量的研究已经检查了脆性X综合征（FXS）的一般智力功能和适应行为，只有少数研究检查了神经认知功能的特定领域，特别是在男性中。 现有的研究受到了横截面设计、缺乏比较组、样本年龄范围广以及评估方法不一致等因素的限制。 拟议的项目将通过对注意力、记忆力和执行功能进行更详细、更系统和更广泛的评估，大大增加我们对FXS神经认知功能的了解。 该项目建立在现有的FXS儿童样本的基础上，这些儿童参加了一项前瞻性的纵向研究，他们即将进入青春期。 我们将详细描述青春期早期认知功能和发育的性质，并将功能和发育与其他临床、遗传、神经心理学、生物学和社会人口学变量联系起来，以更准确地描述FXS表型并了解该人群的变异性。 该研究将纳入68名8至13岁的FXS儿童的样本。 一个由68名心理年龄匹配的典型发育儿童组成的对照组将提供关于他们自己的心理年龄的相对认知优势和弱点的见解。 每个孩子将每年进行评估，使用一个全面的电池的注意力，记忆力和执行功能措施。 将收集FMRP、青春期状况、社会经济状况、气质、自闭症行为、语言发育、视觉处理技能和行为问题的其他指标。 这些额外的评估将测试蛋白质表达和神经认知功能之间的关系，确定发育模式的变化作为青春期的功能，提供一些关于环境在影响结果中的作用的见解，并通过提供可能与FXS相关的一系列特征的全面描述来增加FXS表型的特异性。 一系列的分析程序，包括分层线性模型，将被用来回答四个具体的目标，确定神经认知的配置文件，比较配置文件与对照组，检查随时间的变化，并测试神经认知功能和其他变量之间的关系感兴趣。

Although considerable research has examined general intellectual functioning and adaptive behavior in fragile X syndrome (FXS), only a few studies have examined specific domains of neurocognitive functioning, especially in males. Existing research has been limited by cross-sectional designs, lack of comparison groups, a wide age range in the samples, and inconsistencies in assessment methodologies. The proposed project would add substantially to our knowledge about neurocognitive function in FXS by conducting more detailed, systematic, and expansive assessments of attention, memory, and executive function. The project builds on an existing sample of children with FXS participating in a prospective, longitudinal study who are about to enter puberty. We will describe in detail the nature of cognitive function and development over time during early adolescence, and relate function and development to other clinical, genetic, neuropsychological, biological, and sociodemographic variables in order to describe more precisely the FXS phenotype and understand the variability within this population. The study will incorporate a sample of 68 children with FXS between the ages of 8 and 13 years. A comparison group of 68 mental-age-matched typically developing children will provide insights into relative cognitive strengths and weaknesses in FXS in relation to their own mental age. Each child will be assessed annually using a comprehensive battery of attention, memory, and executive function measures. Additional measures will be collected of FMRP, pubertal status, socioeconomics status, temperament, autistic behavior, language development, visual processing skills, and behavior problems. These additional assessments will test the relationship between protein expression and neurocognitive function, identify changes in patterns of development as a function of puberty, provide some insights into the role of environment in affecting outcomes, and increase the specificity of the FXS phenotype by providing a comprehensive description of a range of features likely to be associated with FXS. A range of analytic procedures, including hierarchical linear modeling, will be used to answer four specific aims related to determining neurocognitive profiles, comparing profiles with the comparison group, examining change over time, and testing the relationship between neurocognitive function and other variables of interest.