In search for significant cognitive features in klinefelter syndrome through cross-species comparison of a supernumerary x chromosome

Genes, Brain and Behavior

Volumn 10, Issue 6, 2011, Pages 658-662

  Bruining, H ^a   Swaab, H ^b   de Sonneville, L M J ^b   van Rijn, S ^b   van Engeland, H ^a   Kas, M J H ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Animal model; Cognition; Cross species; Face validity; Genetic disorder; Klinefelter syndrome; Object recognition

Indexed keywords

TESTOSTERONE; TESTOSTERONE UNDECANOATE;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; COMPARATIVE STUDY; CONTROLLED STUDY; DRUG DOSE REGIMEN; FEMALE; GEL; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MEMORY; PHENOTYPE; PRIORITY JOURNAL; RECOGNITION; SUPERNUMERARY CHROMOSOME; SUPERNUMERARY X CHROMOSOME; TASK PERFORMANCE; TIME PERCEPTION; VISUAL MEMORY; WORKING MEMORY; X CHROMOSOME;

ADOLESCENT; ANIMALS; CHILD; CHROMOSOMES, HUMAN, X; COGNITION; COGNITION DISORDERS; DISEASE MODELS, ANIMAL; HUMANS; KLINEFELTER SYNDROME; MALE; MICE; NEUROPSYCHOLOGICAL TESTS; PATTERN RECOGNITION, VISUAL;

ANIMALIA; MUS;

EID: 79961025012     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2011.00705.x     Document Type: Article

References (33)

1. Bishop, D.V., Jacobs, P.A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P.A., Fryer, A., Middlemiss, P., Smithson, S., Metcalfe, K., Shears, D., Leggett, V., Nation, K. & Scerif, G. (2010) Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child doi:10.1136/adc.2009.179747.
2. Boada, R., Janusz, J., Hutaff-Lee, C. & Tartaglia, N. (2009) The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. Dev Disabil Res Rev 15, 284-294.
3. Bojesen, A., Juul, S. & Gravholt, C.H. (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88, 622-626.
4. Bojesen, A., Juul, S., Birkebaek, N.H. & Gravholt, C.H. (2006) Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 91, 1254-1260.
5. Boks, M.P., de Vette, M.H., Sommer, I.E., van, R.S., Giltay, J.C., Swaab, H. & Kahn, R.S. (2007) Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophr Res 93, 399-402.
6. Bolduc, F.V., Bell, K., Cox, H., Broadie, K.S. & Tully, T. (2008) Excess protein synthesis in Drosophila fragile X mutants impairs long-term memory. Nat Neurosci 11, 1143-1145.
7. Bruining, H., Swaab, H., Kas, M.J.H. & van Engeland, H. (2009) Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics 123, e865-e870.
8. Bruining, H., van Rijn, S., Swaab, H., Giltay, J., Kates, W., Kas, M.J., van, E.H. & de Sonneville, L.M.J. (2010) The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndrome. Biol Psychiatry 68, 1156-1162.
9. DeLisi, L.E., Maurizio, A.M., Svetina, C., Ardekani, B., Szulc, K., Nierenberg, J., Leonard, J. & Harvey, P.D. (2005) Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders. Am J Med Genet B Neuropsychiatr Genet 135B, 15-23.
10. Dennis, M., Francis, D.J., Cirino, P.T., Schachar, R., Barnes, M.A. & Fletcher, J.M. (2009) Why IQ is not a covariate in cognitive studies of neurodevelopmental disorders. J Int Neuropsychol Soc 15, 331-343.
11. Dere, E., Huston, J.P. & De Souza Silva, M.A. (2007) The pharmacology, neuroanatomy and neurogenetics of one-trial object recognition in rodents. Neurosci Biobehav Rev 31, 673-704.
12. De Sonneville, L.M.J. (1999) Amsterdam neuropsychological tasks: a computer aided assessment programme. In Den Brinker, P.J., Beek, A.N., Brand, F.J. & Mulder, L.J.M. (eds), Cognitive Ergonomics, Clinical Assessment and Computer Assisted Learning: Computers in Psychology. Swets and Zeitlinger, Lisse, the Netherlands, pp. 187-203.
13. Dolen, G., Osterweil, E., Rao, B.S., Smith, G.B., Auerbach, B.D., Chattarji, S. & Bear, M.F. (2007) Correction of fragile X syndrome in mice. Neuron 56, 955-962.
14. Ehninger, D. & Silva, A.J. (2010) Rapamycin for treating tuberous sclerosis and autism spectrum disorders. Trends Mol Med 17, 78-87.
15. Ehninger, D., Han, S., Shilyansky, C., Zhou, Y., Li, W., Kwiatkowski, D.J., Ramesh, V. & Silva, A.J. (2008) Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 14, 843-848.
16. Ehninger, D., de Vries, P.J. & Silva, A.J. (2009) From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res 53, 838-851.
17. Fales, C.L., Knowlton, B.J., Holyoak, K.J., Geschwind, D.H., Swerdloff, R.S. & Gonzalo, I.G. (2003) Working memory and relational reasoning in Klinefelter syndrome. J Int Neuropsychol Soc 9, 839-846.
18. Geschwind, D.H., Boone, K.B., Miller, B.L. & Swerdloff, R.S. (2000) Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev 6, 107-116.
19. Giedd, J.N., Clasen, L.S., Wallace, G.L., Lenroot, R.K., Lerch, J.P., Wells, E.M., Blumenthal, J.D., Nelson, J.E., Tossell, J.W., Stayer, C., Evans, A.C. & Samango-Sprouse, C.A. (2007) XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. Pediatrics 119, e232-e240.
20. van der Heijden, K.B., de Sonneville, L.M.J. & Althaus, M. (2010) Time-of-day effects on cognition in preadolescents: a trails study. Chronobiol Int 27, 1870-1894.
21. Huijbregts, S., Swaab, H. & de Sonneville, L.M.J. (2010) Cognitive and motor control in neurofibromatosis type I: influence of maturation and hyperactivity-inattention. Dev Neuropsychol 35, 737-751.
22. Itti, E., Gaw Gonzalo, I.T., Pawlikowska-Haddal, A., Boone, K.B., Mlikotic, A., Itti, L., Mishkin, F.S. & Swerdloff, R.S. (2006) The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome. J Clin Endocrinol Metab 91, 1423-1427.
23. Lanfranco, F., Kamischke, A., Zitzmann, M. & Nieschlag, E. (2004) Klinefelter's syndrome. Lancet 364, 273-283.
24. Lewejohann, L., Damm, O.S., Luetjens, C.M., Hamalainen, T., Simoni, M., Nieschlag, E., Gromoll, J. & Wistuba, J. (2009) Impaired recognition memory in male mice with a supernumerary X chromosome. Physiol Behav 96, 23-29.
25. Liu, P.Y., Erkkila, K., Lue, Y., Jentsch, J.D., Schwarcz, M.D., Abuyounes, D., Hikim, A.S., Wang, C., Lee, P.W. & Swerdloff, R.S. (2010) Genetic, hormonal, and metabolomic influences on social behavior and sex preference of XXY mice. Am J Physiol Endocrinol Metab 299, E446-E455.
26. Lue, Y., Jentsch, J.D., Wang, C., Rao, P.N., Hikim, A.P., Salameh, W. & Swerdloff, R.S. (2005) XXY mice exhibit gonadal and behavioral phenotypes similar to Klinefelter syndrome. Endocrinology 146, 4148-4154.
27. McBride, S.M., Choi, C.H., Wang, Y., Liebelt, D., Braunstein, E., Ferreiro, D., Sehgal, A., Siwicki, K.K., Dockendorff, T.C., Nguyen, H.T., McDonald, T.V. & Jongens, T.A. (2005) Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 45, 753-764.
28. Patwardhan, A.J., Brown, W.E., Bender, B.G., Linden, M.G., Eliez, S. & Reiss, A.L. (2002) Reduced size of the amygdala in individuals with 47, XXY and 47, XXX karyotypes. Am J Med Genet 114, 93-98.
29. Rowbotham, I., Pit-ten, C.I., Sonuga-Barke, E.J. & Huijbregts, S.C. (2009) Cognitive control in adolescents with neurofibromatosis type 1. Neuropsychology 23, 50-60.
30. Shen, D., Liu, D., Liu, H., Clasen, L., Giedd, J. & Davatzikos, C. (2004) Automated morphometric study of brain variation in XXY males. Neuroimage 23, 648-653.
31. Visootsak, J. & Graham, J.M. Jr. (2009) Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev 15, 328-332.
32. de Vrij, F.M., Levenga, J., van der Linde, H.C., Koekkoek, S.K., De Zeeuw, C.I., Nelson, D.L., Oostra, B.A. & Willemsen, R. (2008) Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis 31, 127-132.
33. Wechsler, D., Kort, W., Compaan, E.L., Bliechrodt, N., Resig, W.C.M., Schittekatte, M., Bosmans, M., Vermeir, G. & Verhaeghe, P. (2002) WISC-III NL, Handleiding. Psychological Corporation Unlimited, London.