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Thursday, May 7, 2009
Northwest Hall (Chicago Hilton)
2:30 PM
Background: Klinefelter syndrome is an X chromosomal condition (47,XXY karyotype) that is present in about 1 in 700 boys. Because of the risk for development of psychopathology, it has been suggested that studying individuals with the 47,XXY karyotype may help in the search for cognitive, neural and genetic mechanisms underlying psychopathology.
Objectives: The aim of this study was to assess levels of autism traits and schizotypal traits in individuals with XXY. We explored the relationships between specific domains of autism traits and specific domains of schizotypal traits. Secondly, our study was focused on executive functioning in this population in order to gain insight in putative underlying mechanisms that may help explain increased risk for symptoms in both the autism and schizophrenia spectrum.
Methods: 44 XXY men and 46 non-clinical controls were included in the study. Autistic traits were measured using the Autism Spectrum Questionnaire. The Schizotypal Personality Questionnaire was used for measuring levels of negative, positive and disorganized schizotypal traits. Both are a dimensional self-report measures. We assessed mental flexibility using the Shifting Set Task of the Amsterdam Neuropsychological Tasks (ANT) program.
Results: Levels of autism traits and schizotypal traits were substantially higher in the XXY group. The effect size (Cohen’s d) were 1.9 for the autism sumscore and 1.23 for the schizotypy sumscore. Scores on all individual subscales of the AQ and SPQ were significantly higher in the XXY group, with effect sizes ranging from 0.6 to 1.73. The total AQ score was significantly correlated with the total SPQ score, more specifically with negative and disorganized schizotypal dimensions. This was mostly due to high correlations between these SPQ dimensions and the subscale ’dividing attention’ of the AQ. In the Shifting Set Task, which requires mental flexibility and attentional control, the XXY group made more errors (effect size 0.5) and had longer reaction times (effect size 0.9).
Conclusions: These findings call for a clinical investigation of vulnerability to autism and schizophrenia spectrum pathology in Klinefelter syndrome. Our findings stress the importance of studying the role of executive dysfunctions, particularly in the area of attentional control, as a vulnerability factor for developing both autism features as well as schizophrenia-like symptoms. Genetic syndromes associated with increased vulnerability for both autism- as well as schizotypal features, such as Klinefelter syndrome, may help in gaining insight in common underlying mechanisms.
Objectives: The aim of this study was to assess levels of autism traits and schizotypal traits in individuals with XXY. We explored the relationships between specific domains of autism traits and specific domains of schizotypal traits. Secondly, our study was focused on executive functioning in this population in order to gain insight in putative underlying mechanisms that may help explain increased risk for symptoms in both the autism and schizophrenia spectrum.
Methods: 44 XXY men and 46 non-clinical controls were included in the study. Autistic traits were measured using the Autism Spectrum Questionnaire. The Schizotypal Personality Questionnaire was used for measuring levels of negative, positive and disorganized schizotypal traits. Both are a dimensional self-report measures. We assessed mental flexibility using the Shifting Set Task of the Amsterdam Neuropsychological Tasks (ANT) program.
Results: Levels of autism traits and schizotypal traits were substantially higher in the XXY group. The effect size (Cohen’s d) were 1.9 for the autism sumscore and 1.23 for the schizotypy sumscore. Scores on all individual subscales of the AQ and SPQ were significantly higher in the XXY group, with effect sizes ranging from 0.6 to 1.73. The total AQ score was significantly correlated with the total SPQ score, more specifically with negative and disorganized schizotypal dimensions. This was mostly due to high correlations between these SPQ dimensions and the subscale ’dividing attention’ of the AQ. In the Shifting Set Task, which requires mental flexibility and attentional control, the XXY group made more errors (effect size 0.5) and had longer reaction times (effect size 0.9).
Conclusions: These findings call for a clinical investigation of vulnerability to autism and schizophrenia spectrum pathology in Klinefelter syndrome. Our findings stress the importance of studying the role of executive dysfunctions, particularly in the area of attentional control, as a vulnerability factor for developing both autism features as well as schizophrenia-like symptoms. Genetic syndromes associated with increased vulnerability for both autism- as well as schizotypal features, such as Klinefelter syndrome, may help in gaining insight in common underlying mechanisms.