X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY)
Section snippets
Background
Studying genetically defined syndromes can reveal insights into gene-brain-behavior mechanisms. This may lead to a better understanding of complex psychiatric diseases, such as schizophrenia. In this regard, an interesting genetic condition that has been associated with an increased vulnerability to schizophrenia, is Klinefelter syndrome (Bojesen et al., 2006, DeLisi et al., 1994, DeLisi et al., 2005, Kunugi et al., 1999, van Rijn et al., in press).
Klinefelter syndrome is characterized by the
Subjects
32 men with Klinefelter syndrome (mean age 38.8, S.D. 8.3) were studied. The participants were recruited from the Dutch Klinefelter Association, and were not selected for psychological, behavioral or cognitive abnormalities. Diagnosis of Klinefelter syndrome was confirmed by karyotyping, using standard procedures. In this group, 28 men were treated with testosterone supplements, with a mean age of treatment onset of 26.2 years (S.D. 7.9).
26 male controls from the general population (mean age
Intellectual ability
Mean score on the Raven's Advanced Progressive Matrices was not significantly different between the groups [t(1,55) = 1.0, p = 0.32]. Mean scores were 107.2 (S.D. 14.2) and 110.4 (S.D. 8.6) for the Klinefelter group and control group, respectively.
On the NART, mean score of the Klinefelter men did not significantly differ from controls [t(1,54) = 1.78, p = 0.08]. Mean score in de Klinefelter group was 103.5 (S.D. 9.8); for the control group, it was 108.0 (S.D. 9.1).
General face recognition
In general, no ceiling effects were
Conclusion
The current study investigated various aspects of social cognitive processing and emotion regulation in Klinefelter syndrome, a genetic disorder characterized by an XXY chromosomal pattern. Our findings suggest disturbances in perception, experience and expression of social cognitive information in this population. Specific deficits in perception of facial expressions of anger were observed. Abnormal experience of emotions in Klinefelter men was suggested by both explicit and implicit measures.
Acknowledgements
The authors would like to thank Danique de Jong for help with collecting the data.
References (56)
Feelings you can't imagine: towards a cognitive neuroscience of alexithymia
Trends Cogn. Sci.
(2005)- et al.
Strange feelings: do amygdala abnormalities dysregulate the emotional brain in schizophrenia?
Prog. Neurobiol.
(2005) Circuitry and functional aspects of the insular lobe in primates including humans
Brain Res. Rev.
(1996)- et al.
The 20-Item Toronto-Alexithymia-Scale: 2. Convergent, discriminant, and concurrent validity
J. Psychosom. Res.
(1994) - et al.
Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation
Mol. Brain Res.
(2003) - et al.
Facial affect perception in alcoholics
Psychiatry Res.
(2002) - et al.
Brain activation during facial emotion processing
NeuroImage
(2002) - et al.
Emotion processing and its relationship to social functioning in schizophrenia patients
Psychiatry Res.
(2002) - et al.
Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the X chromosome aneuploidies and pericentric inversion of chromosome 9
Schizophr. Res.
(1999) - et al.
Is alexithymia the emotional equivalent of blindsight?
Biol. Psychiatry
(1997)
Klinefelter's syndrome
Lancet
Behavioral assessment of social skills in children with Turner syndrome or Fragile X
Arch. Clin. Neuropsychol.
Assessing the reliability and validity of the Bermond-Vorst Alexithymia Questionnaire among U.S. Anglo and U.S. Hispanic samples
J. Psychosom. Res.
Automated morphometric study of brain variation in XXY males
NeuroImage
Neurobiology of emotion and high risk for schizophrenia: role of the amygdala and the X-chromosome
Neurosci. Biobehav. Rev.
Emotional processing in a non-clinical psychosis-prone sample
Schizophr. Res.
Validity and reliability of the Bermond-Vorst Alexithymia Questionnaire
Pers. Individ. Differ.
Both of us disgusted in My Insula: the common neural basis of seeing and feeling disgust
Neuron
Sex differences in the risk of schizophrenia: evidence from meta-analysis
Arch. Gen. Psychiatry
Affect dysregulation and alexithymia
The cognitive neuroscience of autism
J. Neurol. Neurosurg. Psychiatry
Sex differences in the brain: implications for explaining autism
Science
Test of Face Recognition Manual
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
J. Clin. Endocrinol. Metab.
Morbidity in Klinefelter syndrome; a Danish register study based on hospital discharge diagnoses
J. Clin. Endocrinol. Metab.
Psychology and economics: enhanced: strategizing in the brain
Science
The genetic basis for sex differences in human behaviour: role of the sex chromosomes
Ann. Hum. Genet.
Schizophrenia and sex chromosome anomalies
Schizophr. Bull.
Cited by (88)
Mentalization and cognitive skills in men with Klinefelter syndrome versus non-clinical controls
2023, Psychiatry Research CommunicationsDimensional and transdiagnostic social neuroscience and behavioral neurology
2021, Encyclopedia of Behavioral Neuroscience: Second EditionCortical gray matter structure in boys with Klinefelter syndrome
2021, Psychiatry Research - NeuroimagingKlinefelter syndrome or testicular dysgenesis: Genetics, endocrinology, and neuropsychology
2021, Handbook of Clinical NeurologyCitation Excerpt :These problems are also seen in later childhood and in adolescence and adulthood (Tartaglia et al., 2010; Cordeiro et al., 2012; van Rijn et al., 2014b; Skakkebaek et al., 2015). Our understanding of the underlying mechanism for these difficulties in social functioning is limited; however, there is evidence that males with Klinefelter syndrome may have deficits in social cognitive abilities, such as perceiving, understanding, and expressing social signals, which lead to difficulties in interpretation of social cues (van Rijn et al., 2006, 2007, 2014a,b,c, 2018; van Rijn, 2015). Klinefelter syndrome is associated with an increased risk of a broad range of psychiatric disorders (Boks et al., 2007; Bruining et al., 2009; Tartaglia et al., 2012).