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01-08-2007 | Artikelen

De cognitieve en neurale basis van sociaal disfunctioneren bij mannen met het Klinefelter-syndroom

Auteurs: Sophie van Rijn, Hanna Swaab

Gepubliceerd in: Neuropraxis | Uitgave 4/2007

Abstract

Spontaan ontstane genetische variaties bieden de mogelijkheid om de effecten van specifieke genen op de ontwikkeling van de hersenen, cognitieve vaardigheden en gedrag te bestuderen. Een syndroom waarbij zich een genetische variatie in een van de geslachtschromosomen voordoet, is het Klinefelter-syndroom. Door de aanwezigheid van een extra x-chromosoom hebben mannen met dit syndroom het xxy-chromosomale patroon.

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Aleman, A. & Kahn, R.S. (2005). Strange feelings: Do amygdala abnormalities dysregulate the emotional brain in schizophrenia? Progress in Neurobiology, 77, 283–298.

Aleman, A., Kahn, R.S. & Selten, J.P. (2003). Sex differences in the risk of schizophrenia: evidence from meta-analysis. Archives of General Psychiatry, 60, 565–571.

Arrindell, W.A., Bridges, K.R., van der Ende, J. et al. (2001). Normative studies with the Scale for Interpersonal Behaviour (sib): II. us students: A cross-cultural comparison with Dutch data. Behaviour Research and Therapy, 39, 1461.

Baron-Cohen, S., Knickmeyer, R.C. & Belmonte, M.K. (2005). Sex differences in the brain: implications for explaining autism. Science, 310, 819–823.

Baron-Cohen, S., Wheelwright, S., Skinner, R., et al. (2001). The autism-spectrum quotient (aq): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31, 5–17.

Bender, B.G., Harmon, R.J., Linden, M.G., et al. (1999). Psychosocial competence of unselected young adults with sex chromosome abnormalities. American Journal of Medical Genetics ’ Neuropsychiatric Genetics, 88, 200.

Bojesen, A., Juul, S., Birkebaek, N.H. et al. (2006). Morbidity in Klinefelter syndrome; a Danish register study based on hospital discharge diagnoses. The Journal of Clinical Endocrinology and Metabolism, 91, 1254–1260.

Bojesen, A., Juul, S. & Gravholt, C.H. (2003). Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. The Journal of Clinical Endocrinology and Metabolism, 88, 622–626.

Boone, K.B., Swerdloff, R.S., Miller, B.L. et al. (2001). Neuropsychological profiles of adults with Klinefelter syndrome. Journal of the International Neuropsychological Society, 7, 446–456.

Craig, I.W., Harper, E. & Loat, C.S. (2004). The genetic basis for sex differences in human behaviour: Role of the sex chromosomes. Annals of Human Genetics, 68, 269–284.

Creswell, C.S. & Skuse, D.H. (1999). Autism in association with Turner syndrome: Genetic implications for male vulnerability to pervasive developmental disorders. Neurocase, 5, 511–518.

Crow, T.J. (2004). Cerebral asymmetry and the lateralization of language: Core deficits in schizophrenia as pointers to the gene. Current Opinion in Psychiatry, 17, 97–106.

Cutter, W.J., Daly, E.M., Robertson, D.M.W. et al. (2006). Influence of x chromosome and hormones on human brain development: A magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome. Biological Psychiatry, 59, 273–283.

DeLisi, L.E., Friedrich, U., Wahlstrom, J. et al. (1994). Schizophrenia and sex chromosome anomalies. Schizophrenia Bulletin, 20, 495–505.

DeLisi, L.E., Maurizio, A.M., Svetina, C. et al. (2005). Klinefelter's syndrome (xxy) as a genetic model for psychotic disorders. American Journal of Medical Genetics B Neuropsychiatric Genetics, 135, 15–23.

Dervaux, A. & Artiges, E. (2002). Olanzapine for violent schizophrenia and Klinefelter syndrome. American Journal of Psychiatry, 159, 493–494.

Dewing, P., Shi, T., Horvath, S. et al. (2003). Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Molecular Brain Research, 118, 82–90.

Fein, D., Pennington, B. & Markowitz, P. (1986). Toward a neuropsychological model of infantile autism: Are the social deficits primary? Journal of the American Academy of Child Psychiatry, 25, 198.

Forssman, H. (1970). The mental implications of sex chromosome aberrations. British Journal of Psychiatry, 117, 353–363.

Frith, C.D. & Frith, U. (1999). Interacting Minds-A Biological Basis. Science, 286, 1692–1695.

Geschwind, D.H., Boone, K.B., Miller, B.L., et al. (2000). Neurobehavioral phenotype of Klinefelter syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6, 107–116.

Geschwind, D.H. & Dykens, E. (2004). Neurobehavioral and Psychosocial Issues in Klinefelter Syndrome. Learning Disabilities Research & Practice, 19, 166–173.

Geschwind, D.H., Gregg, J., Boone, K., et al. (1998). Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the x chromosome pseudoautosomal region using a DNA microarray. Developmental Genetics, 23, 215–229.

Gottesman, I.I. & Gould, T.D. (2003). The endophenotype concept in psychiatry: etymology and strategic intentions. The American Journal of Psychiatry, 160, 636–645.

Harmon, R.J., Bender, B.G., Linden, M.G. et al. (1998). Transition from adolescence to early adulthood: Adaptation and psychiatric status of women with 47, xxx Journal of the American Academy of Child and Adolescent Psychiatry, 37, 286.

Itti, E., Gaw Gonzalo, I.T., Boone, K.B. et al. (2003). Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome. Annals of Neurology, 54, 669–673.

Itti, E., Gaw Gonzalo, I.T., Pawlikowska-Haddal, A. et al. (2006). The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome. Journal of Clinical Endocrinology and Metabolism, 91, 1423–1427.

Jablensky, A. (2006). Subtyping schizophrenia: Implications for genetic research. Molecular Psychiatry, 11, 815.

Jellema, T. & Perret, D.I. (2005). Neural Basis for the Perception of Goal-Directed Actions. In The Cognitive Neuroscience of Social Behavior (eds A. Easton & N.J. Emery). New York: Psychology Press.

Kay, S.R., Fiszbein, A. & Opler, L.A. (1987). The Positive and Negative Syndrome rating Scale (panss) for Schizophrenia. Schizophrenia Bulletin, 13, 261–276.

Kesler, S.R., Blasey, C.M., Brown, W.E. et al. (2003). Effects of x-monosomy and x-linked imprinting on superior temporal gyrus morphology in Turner syndrome. Biological Psychiatry, 54, 636–646.

Kesler, S.R., Garrett, A., Bender, B., et al. (2004). Amygdala and hippocampal volumes in Turner syndrome: a high-resolution mri study of x-monosomy. Neuropsychologia, 42, 1971–1978.

Kunugi, H., Lee, K.B. & Nanko, S. (1999). Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the X chromosome aneuploidies and pericentric inversion of chromosome 9. Schizophrenia Research, 40, 43–47.

Lanfranco, F., Kamischke, A., Zitzmann, M. et al. (2004). Klinefelter's syndrome. The Lancet, 364, 273–283.

Lishman, W.A. (1998). Endocrine Diseases and Metabolic Disorders. In Organic Psychiatry: the Psychological Consequences of Cerebral Disorder (ed W.A. Lishman), 526–527. Oxford: Blackwell Science.

Mazzocco, M.M.M., Baumgardner, T., Freund, L.S. et al. (1998). Social functioning among girls with fragile X or Turner syndrome and their sisters. Journal of Autism and Developmental Disorders, 28, 509–517.

McCauley, E. & Sybert, V. (2006). Social and behavioral development of girls and women with Turner syndrome. International Congress Series, 1298, 93.

Michielsen, P.J.S., Verhoeven, W.M.A. & de Blecourt, C.V. (2001). Klinefelter syndrome and psychiatric disturbances ’ 2 case studies and a survey of the literature. Acta Neuropsychiatrica, 13, 15–20.

Mitchell, R.L., Elliott, R., Barry, M. et al. (2003). The neural response to emotional prosody, as revealed by functional magnetic resonance imaging. Neuropsychologia, 41, 1410–1421.

Molko, N., Cachia, A., Riviere, D. et al. (2004). Brain anatomy in Turner syndrome: Evidence for impaired social and spatial-numerical networks. Cerebral Cortex, 14, 840–850.

Money, J. (1993) Specific neuro-cognitive impairments associated with Turner (45, x) and Klinefelter (47, xxy) syndromes: a review. Social Biology, 40, 147–151.

Mors, O., Mortensen, P.B. & Ewald, H. (2001). No evidence of increased risk for schizophrenia or bipolar affective disorder in persons with aneuploidies of the sex chromosomes. Psychological Medicine, 31, 425–430.

Murphy, D.G.M., Mentis, M.J., Pietrini, P. et al. (1997). A pet study of Turner's syndrome: Effects of sex steroids and the x chromosome on brain. Biological Psychiatry, 41, 285–298.

Netley, C. & Rovet, J. (1982). Atypical hemispheric lateralization in Turner syndrome subjects. Cortex, 18, 377.

Netley, C. & Rovet, J. (1984). Hemispheric lateralization in 47, xxy Klinefelter's syndrome boys. Brain and Cognition, 3, 10–18.

Nielsen, J., Johnsen, S.G. & Sorensen, K. (1980). Follow-up 10 years later of 34 Klinefelter males with karyotype 47, xxy and 16 hypogonadal males with karyotype 46,XY. Psychological Medicine, 10, 345.

Ong, S.H. & Robertson, J.R. (1995). Schizophrenia with Karyotype Mosaic 47,Xxy/48,Xxy+8. Psychiatric Genetics, 5, 67–69.

Patwardhan, A.J., Brown, W.E., Bender, B.G. et al. (2002). Reduced size of the amygdala in individuals with 47,xxy and 47, xxx karyotypes. American Journal of Medical Genetics, 114, 93–98.

Patwardhan, A.J., Eliez, S., Bender, B. et al. (2000). Brain morphology in Klinefelter syndrome: extra x chromosome and testosterone supplementation. Neurology, 54, 2218–2223.

Raine, A. (1991). The spq: a scale for the assessment of schizotypal personality based on dsm-III-R criteria. Schizophrenia Bulletin, 17, 555–564.

Ratcliffe, S. (1999). Long-term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80, 192–195.

Ross, E.D., Thompson, R.D. & Yenkosky, J. (1997). Lateralization of affective prosody in brain and the callosal integration of hemispheric language functions. Brain and Language, 56, 27–54.

Ross, J., Zinn, A. & McCauley, E. (2000). Neurodevelopmental and psychosocial aspects of turner syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6, 135.

Rovet, J., Netley, C., Keenan, M. et al. (1996). The psychoeducational profile of boys with Klinefelter Syndrome. Journal of Learning Disabilities, 29, 193–196.

Roy, A. (1981). Schizophrenia and Klinefelter's syndrome. Canadian Journal of Psychiatry, 26, 262.

Rutter, M. (2000). Genetic studies of autism: From the 1970s into the millennium. Journal of Abnormal Child Psychology, 28, 3.

Samango-Sprouse, C. (2001). Mental development in polysomy x Klinefelter syndrome (47,xxy; 48, xxxy): Effects of incomplete x inactivation. Seminars in Reproductive Medicine, 19, 193–202.

Sanfey, A.G., Rilling, J.K., Aronson, J.A. et al. (2003). The Neural Basis of Economic Decision-Making in the Ultimatum Game. Science, 300, 1755–1758.

Shen, D., Liu, D., Liu, H. et al. (2004). Automated morphometric study of brain variation in xxy males. Neuroimage, 23, 648–653.

Skuse, D., Morris, J. S. & Dolan, R.J. (2005). Functional dissociation of amygdala-modulated arousal and cognitive appraisal, in Turner syndrome. Brain, 128, 2084–2096.

Skuse, D.H. (2000). Imprinting, the x-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatric Research, 47, 9–16.

Torgersen, S., Edvardsen, J., Øien, P.A. et al. (2002). Schizotypal personality disorder inside and outside the schizophrenic spectrum. Schizophrenia Research, 54, 33.

Toyota, T., Shimizu, H., Yamada, K. et al. (2001). Karyotype analysis of 161 unrelated schizophrenics: no increased rates of x chromosome mosaicism or inv(9), using ethnically matched and age-stratified controls. Schizophrenia Research, 52, 171–179.

Van Rijn, S., Aleman, A., Swaab, H. et al. (2006a). Klinefelter's syndrome (karyotype 47, xxy) and schizophrenia-spectrum pathology. British Journal of Psychiatry, 189, 459–461.

Van Rijn, S., Aleman, A., Swaab, H. et al. (2005a). Neurobiology of emotion and high risk for schizophrenia: role of the amygdala and the x-chromosome. Neuroscience and Biobehavioral Reviews, 29, 385–397.

Van Rijn, S., Aleman, A., Swaab, H. et al. (in press) What it is said versus how it is said: Comprehension of affective prosody in men with Klinefelter (47, xxy) syndrome. Journal of the International Neuropsychological Society ( jins ).

Van Rijn, S., Aleman, A., van Diessen, E. et al. (2005b). What is said or how it is said makes a difference: role of the right fronto-parietal operculum in emotional prosody as revealed by repetitive tms. European Journal of Neuroscience, 21, 3195–3200.

Van Rijn, S., Swaab, H., Aleman, A. et al. (2006b). x Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47, xxy). Schizophrenia Research, 84, 194–203.

Volkmar, F.R., Szatmari, P. & Sparrow, S.S. (1993). Sex differences in pervasive developmental disorders. Journal of Autism and Developmental Disorders, V23, 579.

Warwick, M.M., Lawrie, S.M., Beveridge, A. et al. (2003). Abnormal cerebral asymmetry and schizophrenia in a subject with Klinefelter's syndrome (xxy). Biological Psychiatry, 53, 627–629.

Wesner, C.E., Spangler, P., Petrides, A. et al. (1973). Prepubertal Klinefelter syndrome: a report of six cases. Journal of Mental Deficiency Research, 17, 237–246

Titel: De cognitieve en neurale basis van sociaal disfunctioneren bij mannen met het Klinefelter-syndroom
Auteurs: Sophie van Rijn
Hanna Swaab
Publicatiedatum: 01-08-2007
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Neuropraxis / Uitgave 4/2007
Print ISSN: 1387-5817
Elektronisch ISSN: 1876-5785
DOI: https://doi.org/10.1007/BF03079134

Bohn Stafleu van Loghum

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