title: A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism.
abstract: Klinefelter syndrome (KS) is a genetic syndrome characterized by the presence of an extra X chromosome that appears to increase the risk of psychopathology, such as autism symptoms. This study used functional magnetic resonance imaging to determine underlying mechanisms related to this risk, with the aim of gaining insight into neural mechanisms behind social-cognitive dysfunction in KS and autism, and understanding similarities and differences in social information processing deficits. Fourteen boys with KS, seventeen boys with autism spectrum disorders (ASD) and nineteen non-clinical male controls aged 10-18 years were scanned while matching and labeling facial expressions (i.e. face processing and affect labeling, respectively). No group differences in neural activation were found during face processing. However, during affect labeling, the ASD group showed increased activation in the amygdala compared with controls, while the KS group showed increased activation in frontal areas compared with both controls and the ASD group. No group differences in task performance were found. Although behavioral symptoms of social dysfunction appear similar both in boys with KS and ASD, this is the first study to demonstrate different underlying etiologies. These results may aid in identifying different pathways to autism symptoms, which may help understanding variability within the ASD spectrum.
authors.affiliation: Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany m.n.brandenburg@fsw.leidenuniv.nl.
authors.forename: Marcia N
authors.initials: MN
authors.lastname: Brandenburg-Goddard
authors.affiliation: Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany.
authors.forename: Sophie
authors.initials: S
authors.lastname: van Rijn
authors.affiliation: Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany.
authors.forename: Serge A R B
authors.initials: SA
authors.lastname: Rombouts
authors.affiliation: Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany.
authors.forename: Ilya M
authors.initials: IM
authors.lastname: Veer
authors.affiliation: Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Leiden Institute for Brain and Cognition, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, Institute of Psychology, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands, Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands, and Charité Universitätsmedizin Berlin, Division of Mind and Brain Research, Department of Psychiatry and Psychotherapy, Charitéplatz 1, 10117 Berlin, Germany.
authors.forename: Hanna
authors.initials: H
authors.lastname: Swaab
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications*; D001921:Brain / Q000098:blood supply / Q000473:pathology*; D001931:Brain Mapping; D002648:Child; D003072:Cognition Disorders / Q000209:etiology*; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007713:Klinefelter Syndrome / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D017063:Outcome Assessment, Health Care; D010100:Oxygen / Q000097:blood; D010775:Photic Stimulation; D011569:Psychiatric Status Rating Scales; D012919:Social Behavior
chemical_list: D010100:Oxygen
keywords: Klinefelter; autism; fMRI; facial affect processing; social cognition