Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Journal of Autism and Developmental Disorders, Oct 2008

Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior.

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Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Sophie van Rijn 0 1 2 3 Hanna Swaab 0 1 2 3 Andre Aleman 0 1 2 3 Rene S. Kahn 0 1 2 3 0 S. van Rijn (&) H. Swaab Department of Clinical Child and Adolescent Studies, Leiden University , Wassenaarseweg 52, Postbus 9555, 2300 RB Leiden, The Netherlands 1 S. van Rijn R. S. Kahn Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht , Utrecht, The Netherlands 2 S. van Rijn Department of Experimental Psychology , Helmholtz Instituut, Universiteit Utrecht , Utrecht, The Netherlands 3 A. Aleman BCN NeuroImaging Center, University of Groningen , Groningen, The Netherlands Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior. - Klinefelter syndrome affects approximately 1 in 700 men and is the most commom sex chromosomal disorder. Men with this syndrome have an extra X chromosome, giving rise to the XXY chromosomal pattern. This sex chromosomal aneuploidy results in a variety of phenotypes including hypogonadism, androgen deficiency and infertility (Lanfranco et al. 2004). Cognitive and behavioral dysfunctions in Klinefelter syndrome have generally been under-appreciated relative to endocrinological and physical features. However, there is an awareness of behavioral and cognitive abnormalities (Boone et al. 2001; Geschwind et al. 2000). Although there is a general impression that men or boys with Klinefelter syndrome often struggle with social situations (for example at school or at work), knowledge of the social behavioral phenotype of Klinefelter syndrome is limited. Previous studies have predominantly assessed global functioning (for example academic achievement, occupation or marital status) rather specific social abilities. Some studies have specifically focused on social adjustment in adolescents and men with Klinefelter syndrome, but these studies have primarily collected categorical data (for example, someone can be either sociable, passive or shy) or the studies included small sample sizes or lacked control data from individuals from the general population. These studies suggest that individuals with Klinefelter syndrome are at risk for psychosocial and emotional problems such as social withdrawal, social anxiety, shyness, impulsivity and inappropriate social behavior (Bender et al. 1999; Geschwind et al. 2000; Geschwind and Dykens 2004; Ratcliffe 1999; Simm and Zacharin 2006). In early adulthood a significant portion of the XXY men report having few or no friends, poor relations with siblings and parents, little energy and initiative, and few or no sparetime interests (Nielsen et al. 1980). Although speculative, difficulties in coping with the social environment may be indicative of an increased vulnerability for autistic traits in boys and men Klinefelter syndrome. Tentative support for this hypothesis comes from recent case studies of individuals with Klinefelter syndrome diagnosed with an autism spectrum disorder (Jha et al. 2007; Merhar and Manning-Courtney 2007). Also, population based studies investigating genetic disorders in individuals with autism have commented on the co-occurance of autism and the XXY pattern (Kielinen et al. 2004; Konstantareas and Homatidis 1999). However, to our knowledge, there has been no study of autism features in a large sample individuals with Klinefelter syndrome. The aim of our study was to investigate specific social abilities in a large sample of adult men with Klinefelter syndrome and assess whether Klinefelter syndrome may be associated with increased levels of autistic traits. In an attempt to improve our understanding of the social behavioral phenotype of Klinefelter syndrome, our study included a quantitative measure of the degree to which XXY men participate in specific social behaviors and at the same time the degree to which XXY men are distressed during these social situations as compared to men from the general population. Importantly, this measure allows a quantification of social capacities that are normally distributed in the general population. Also, it has shown to be sensitive to the effects of social skills training, indicating that it is a sensitive measure of individual differences in social behavior. To explore (...truncated)


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Sophie van Rijn, Hanna Swaab, André Aleman, René S. Kahn. Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome, Journal of Autism and Developmental Disorders, 2008, pp. 1634-1641, Volume 38, Issue 9, DOI: 10.1007/s10803-008-0542-1