Department of Psychology, University of Oslo, Oslo, Norway.
Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):482-492. doi: 10.1002/ajmg.c.31797. Epub 2020 May 16.
A few studies have examined neuropsychological functions, sleep, and mental health combined in Klinefelter syndrome (KS; 47,XXY). We investigated neuropsychological functions with standard tests, sleep with actigraphy, and self-reported mental health in 30 men with KS (Mean age = 36.7 years) compared to 21 controls (Mean age = 36.8 years). Men with KS scored significantly lower on mental speed, attention span, working memory, inhibition, and set-shifting tests, as well as overall IQ (mean effect size difference Cohen's d = 0.79). Men with KS had significantly longer night wakes, with no differences in other sleep variables (mean d = 0.34). Men with KS reported poorer mental health than controls (mean d = 1.16). Regression analyses showed neuropsychological functions explained variance in some sleep domains for men with KS but not for controls. Neuropsychological functions explained variance in some mental health domains for controls. For men with KS, however, verbal IQ was the only significant predictor of mental health. Altogether, men with KS display problems in neuropsychological functions and mental health but do not appear different from controls on most sleep parameters. Our findings indicate that relations between neuropsychological functions, sleep, and mental health differ between men with KS and controls.
一些研究综合考察了克氏综合征（47，XXY）患者的神经心理学功能、睡眠和心理健康。我们使用标准测试评估了神经心理学功能，使用活动记录仪评估了睡眠，使用自我报告评估了心理健康，研究了 30 名克氏综合征患者（平均年龄=36.7 岁）与 21 名对照者（平均年龄=36.8 岁）的情况。克氏综合征患者在心理速度、注意力持续时间、工作记忆、抑制和转换能力测试以及整体智商方面的得分显著较低（平均效应大小差异 Cohen's d = 0.79）。克氏综合征患者的夜间觉醒时间显著延长，其他睡眠变量无差异（平均 d = 0.34）。克氏综合征患者报告的心理健康状况比对照组差（平均 d = 1.16）。回归分析表明，神经心理学功能可以解释克氏综合征患者部分睡眠领域的差异，但不能解释对照组的差异。神经心理学功能可以解释对照组部分心理健康领域的差异。然而，对于克氏综合征患者来说，言语智商是心理健康的唯一显著预测因素。总的来说，克氏综合征患者在神经心理学功能和心理健康方面存在问题，但在大多数睡眠参数方面与对照组没有差异。我们的研究结果表明，神经心理学功能、睡眠和心理健康之间的关系在克氏综合征患者和对照组之间存在差异。
