Vulnerability for autistic traits in boys with Klinefelter syndrome (47, XXY): The role of executive functioning and Theory of Mind

One of the dysfunctions associated with Klinefelter syndrome (KS) (47,XXY) are difficulties in social functioning, which may arise as a consequence of executive functioning (EF) and Theory of Mind (ToM) deficits. In this study, the influence of EF on ToM skills in KS boys was examined, as well as how these skills relate to autistic features. ASD traits were assessed with the parent-report Autism-Spectrum Quotient. ToM skills were measured with the Social Cognitive Skills Test. EF skills were measured with the Clinical Evaluation of Language Fundamentals and Amsterdam Neuropsychological Tasks. 28 KS boys (Mage=13.2, SD=3.0) participated in this study, along with 45 ASD boys (Mage=11.9, SD=2.0) and 46 boys from the general population (Mage=12.2, SD=2.9) as control groups. KS boys showed substantially elevated levels of ASD traits compared to the general population, but lower levels than ASD boys. In addition, difficulties regarding ToM and cognitive flexibility were more prominent in...Show moreOne of the dysfunctions associated with Klinefelter syndrome (KS) (47,XXY) are difficulties in social functioning, which may arise as a consequence of executive functioning (EF) and Theory of Mind (ToM) deficits. In this study, the influence of EF on ToM skills in KS boys was examined, as well as how these skills relate to autistic features. ASD traits were assessed with the parent-report Autism-Spectrum Quotient. ToM skills were measured with the Social Cognitive Skills Test. EF skills were measured with the Clinical Evaluation of Language Fundamentals and Amsterdam Neuropsychological Tasks. 28 KS boys (Mage=13.2, SD=3.0) participated in this study, along with 45 ASD boys (Mage=11.9, SD=2.0) and 46 boys from the general population (Mage=12.2, SD=2.9) as control groups. KS boys showed substantially elevated levels of ASD traits compared to the general population, but lower levels than ASD boys. In addition, difficulties regarding ToM and cognitive flexibility were more prominent in KS boys than in ASD boys compared to the general population. ToM task performance could partly be explained by spatial WM and attention switching (as autistic trait) could partly be explained by ToM skills in KS boys. The current study highlights the importance of attention modulation skills and ToM skills in social functioning of individuals with KS, providing promising insights regarding prevention and intervention. Future studies should focus on the effectiveness of enhancing EF skills in KS boys and the role of the X chromosome in vulnerability for autistic traits.Show less

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Vulnerability for autistic traits in boys with Klinefelter syndrome (47, XXY): The role of executive functioning and Theory of Mind