Cognitive characteristics of PTEN hamartoma tumor syndromes
Cognitive characteristics of PTEN hamartoma tumor syndromes
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DOI：
10.1038/gim.2013.1
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发表时间：
2013-07-01
影响因子：
8.8
通讯作者：
Eng, Charis
中科院分区：
文献类型：
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作者：
Busch, Robyn M.;Chapin, Jessica S.;Eng, Charis
目的：我们试图描述具有种系 PTEN 突变的个体 (n = 23) 以及具有经典 Cowden 综合征或 Bannayan-Riley-Ruvalcaba 综合征 (n = 2) 的 PTEN 突变阴性个体的认知特征。方法：25 名个体完成了全面的神经心理学评估。使用单样本 t 检验和效应大小来检查参与者测试分数与正常对照相比的差异。根据规范标准，在评估的每个认知领域内为每位患者创建综合分数，并将其分类为高于平均水平、平均水平或低于平均水平。 chi(2) 分析将这些分类与正常对照样本中的预期比例进行比较。结果：平均智商处于平均范围内，智力功能的范围非常广泛（从极低到非常优秀）。然而，在很大一部分患者中，运动功能、执行功能和记忆回忆的得分低于预期，表明这些参与者的额叶回路受到破坏。结论：这是第一项使用综合神经心理学电池来描述 PTEN 突变和相关综合征个体认知特征的研究。与之前表明与智力障碍有关的报告相反，平均智商处于平均水平，并且智力能力范围广泛。额叶回路中断的具体证据可能会对治疗依从性和癌症监测产生影响，需要进一步调查。
Purpose: We sought to characterize cognition in individuals with germline PTEN mutations (n = 23) as well as in PTEN mutation-negative individuals with classic Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (n = 2).Methods: Twenty-five individuals completed a comprehensive neuropsychological evaluation. One sample t-tests and effect sizes were used to examine differences in participant test scores compared with normal controls. Composite scores were created for each patient within each of the cognitive domains assessed and classified as above average, average, or below average according to normative standards. chi(2) analyses compared these classifications to expected proportions in normal control samples.Results: The mean intelligence quotient was in the average range, and the range of intellectual functioning was very wide (from extremely low to very superior). However, in a large subset of patients, scores were lower than expected on measures of motor functioning, executive functioning, and memory recall, suggesting disruption of frontal circuits in these participants.Conclusion: This is the first study to characterize cognition in individuals with PTEN mutations and associated syndromes using a comprehensive neuropsychological battery. Contrary to previous reports suggesting an association with intellectual disability, the mean intelligence quotient was average, and there was a broad range of intellectual abilities. Specific evidence of disruption of frontal circuits may have implications for treatment compliance and cancer surveillance, and further investigation is warranted.