title: Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation.
abstract: Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a number of neurocognitive abnormalities, yet little is known about brain function. This study investigated the fMRI-BOLD response from KS relative to a group of Controls to basic motor, perceptual, executive and adaptation tasks. Participants (N: KS = 49; Controls = 49) responded to whether the words "GREEN" or "RED" were displayed in green or red (incongruent versus congruent colors). One of the colors was presented three times as often as the other, making it possible to study both congruency and adaptation effects independently. Auditory stimuli saying "GREEN" or "RED" had the same distribution, making it possible to study effects of perceptual modality as well as Frequency effects across modalities. We found that KS had an increased response to motor output in primary motor cortex and an increased response to auditory stimuli in auditory cortices, but no difference in primary visual cortices. KS displayed a diminished response to written visual stimuli in secondary visual regions near the Visual Word Form Area, consistent with the widespread dyslexia in the group. No neural differences were found in inhibitory control (Stroop) or in adaptation to differences in stimulus frequencies. Across groups we found a strong positive correlation between age and BOLD response in the brain's motor network with no difference between groups. No effects of testosterone level or brain volume were found. In sum, the present findings suggest that auditory and motor systems in KS are selectively affected, perhaps as a compensatory strategy, and that this is not a systemic effect as it is not seen in the visual system.
authors.affiliation: Center of Functionally Integrative Neuroscience, Aarhus University Hospital, building 10-G-5, Nørrebrogade, 8000 Aarhus C, Denmark; Center for Semiotics, Aarhus University, Denmark. Electronic address: mikkel@cfin.dk.
authors.forename: Mikkel
authors.initials: M
authors.lastname: Wallentin
authors.affiliation: Department of Endocrinology and Internal Medicine (MEA), Aarhus University Hospital, 8000 Aarhus C, Denmark; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark.
authors.forename: Anne
authors.initials: A
authors.lastname: Skakkebæk
authors.affiliation: Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, 7100 Vejle, Denmark; Institute of Regional Health Research, University of Southern Denmark, 5000 Odense C, Denmark.
authors.forename: Anders
authors.initials: A
authors.lastname: Bojesen
authors.affiliation: Centre of Andrology & Fertility Clinic, Department D, Odense University Hospital, 5000 Odense C, Denmark.
authors.forename: Jens
authors.initials: J
authors.lastname: Fedder
authors.affiliation: Department of Endocrinology, Aalborg University Hospital, 9000 Aalborg, Denmark.
authors.forename: Peter
authors.initials: P
authors.lastname: Laurberg
authors.affiliation: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Denmark.
authors.forename: John R
authors.initials: JR
authors.lastname: Østergaard
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.affiliation: Vejlefjord Rehabilitation Center, 7140 Stouby, Denmark; Department of Psychology and Behavioral Sciences, Aarhus University, 8000 Aarhus, Denmark.
authors.forename: Anders Degn
authors.initials: AD
authors.lastname: Pedersen
authors.affiliation: Department of Endocrinology and Internal Medicine (MEA), Aarhus University Hospital, 8000 Aarhus C, Denmark; Department of Molecular Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark.
authors.forename: Claus Højbjerg
authors.initials: CH
authors.lastname: Gravholt
mesh_terms: D000161:Acoustic Stimulation / Q000379:methods*; D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D001303:Auditory Cortex / Q000098:blood supply / Q000000981:diagnostic imaging*; D003118:Color Perception / Q000502:physiology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007713:Klinefelter Syndrome / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009044:Motor Cortex / Q000098:blood supply / Q000000981:diagnostic imaging*; D009068:Movement / Q000502:physiology*; D009483:Neuropsychological Tests; D010100:Oxygen; D010775:Photic Stimulation; D011930:Reaction Time / Q000502:physiology; D055815:Young Adult
chemical_list: D010100:Oxygen
keywords: Auditory cortex; Brain activation; Klinefelter syndrome; Motor cortex