Simen Stokke's research while affiliated with University of Oslo and other places

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.

Sex chromosome aneuploidies (SCA) in boys involve physiological, cognitive, and socioemotional challenges. Internalizing problems in boys with SCA are underexamined. We examined behavioral inhibition (BI) in boys with SCA, compared to a clinical sample. BI is a temperamental style characterized by shyness, withdrawal, and cautiousness, and represents increased risk for internalizing problems. Parents (76% mothers) completed the Behavioral Inhibition Questionnaire (BIQ; Bishop et al. 2003), which comprises total BI and BI in six specific domains. Parents of 25 boys with SCA participated (boys’ M age = 11.7 years, SD = 4.5, range 2–18 years), including boys with karyotypes 47,XXY, 47,XYY, 48,XXYY, and 48,XXXY. We compared their BI to 100 boys referred to mental health clinics and treated for anxiety (M age = 11.7 years, SD = 2.3, range 7–17 years), and to norms from 307 Australian boys aged >5 years. Total BI in boys with SCA was at the same level as clinic-referred boys (effect size difference d = 0.02), and higher than norms (d = 0.81). Boys with SCA were significantly more inhibited in physical situations than clinic-referred boys (p = .007; d = 0.71). Differences were small to negligible for BI domains involving peer, unfamiliar adults, and performance situations (all d ≤ 0.34). In conclusion, boys with SCA seem to be as behaviorally inhibited as boys treated for anxiety problems in mental health clinics. Inhibition in physical domains may be a particular challenge for boys with SCA.

Parents of boys with sex chromosome aneuploidies (SCA) were examined. Parents (22 mothers; 16 fathers) of 25 boys aged 2–18 years (M = 11.7, SD = 4.5) with SCA self-reported the Subjective Health Complaints Inventory (SHC), the Pittsburgh Sleep Quality Index, and the Personal Wellbeing Index. Parents reported more SHC and poorer daytime functioning than norms. Mothers reported more SHC, poorer sleep and daytime functioning, and lower health satisfaction than fathers. Parent-reported socio-emotional problems for sons (Strengths and Difficulties Questionnaire) significantly overlapped with parental sleep disturbance. Parental health should be considered in medical consultations involving families of boys with SCA.

More knowledge is needed about men with sex chromosome aneuploidies (SCA). We present self-reported data from 53 men with SCA (Mage = 36.8 years, SD = 12.3, range 19–67). The Health Survey–Short Form (SF-36) measured eight health domains (physical functioning, role-physical, role-emotional, vitality, emotional health, social functioning, pain, general health). The Pittsburgh Sleep Quality Index measured sleep problems. The Personal Wellbeing Index measured satisfaction with eight life domains. Compared to norms, SCA reported poorer health (mean d = −0.80) and more sleep problems (mean d = −0.85). Differences between SCA and norms on personal well-being were small, except lower health satisfaction in SCA (d = −1.06). Seven of eight regression models predicting the SF-36 domains from life satisfaction and sleep problems were significant (explained variance 12.2% to 46.2%), except physical functioning (ns). Clinical assessment/intervention for a broad range of health and sleep problems is indicated for men with SCA.

Boys with sex chromosome aneuploidies (SCA) represent an understudied group. We examined parent-reported physical and socio-emotional problems in 25 boys with SCA (Mean age = 11.7 years, SD = 4.5). The majority had no severe physical health problems. One third of the sample had sleep problems and half of them had weekly or monthly pain. Total emotional and behavior problems, as assessed with the Strengths and Difficulties Questionnaire, was at the same level as reported for boys referred to child mental health clinics. Thus, boys with SCA may have the same need for psychological assessment and intervention as clinic-referred boys.