Neurobehavioral phenotype of Klinefelter syndrome

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 6, Issue 2, 2000, Pages 107-116

  Geschwind, Daniel H ^a   Boone, Kyle B ^a,b   Miller, Bruce L ^c   Swerdloff, Ronald S ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HARBOR UCLA MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cerebral dominance; Dyslexia; Frontal executive function; Klinefelter syndrome; Language; Sex chromosome aneuploidy

Indexed keywords

SEX HORMONE;

DYSLEXIA; HEMISPHERIC DOMINANCE; HUMAN; INTELLIGENCE QUOTIENT; KLINEFELTER SYNDROME; LANGUAGE DEVELOPMENT; MOTOR PERFORMANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; STEROID METABOLISM;

BEHAVIOR; DOMINANCE, CEREBRAL; GENE DOSAGE; GONADAL STEROID HORMONES; HUMANS; INTELLIGENCE; KLINEFELTER SYNDROME; LANGUAGE; NERVOUS SYSTEM; PHENOTYPE;

EID: 0034118496     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-2779(2000)6:2<107::AID-MRDD4>3.0.CO;2-2     Document Type: Review

References (114)

1. Alexander M, Annett M. 1996. Crossed aphasia and related anomalies of cerebral organization: Case reports and a genetic hypothesis. Brain and Lang 55:213-239.
2. Annett M. 1985. Left-right, hand and brain: the right shift theory. London: Lawrence Erlbaum Associates.
3. Barker TE, Black FW. 1976. Klinefelter syndrome in a military population. Electroencephalographic, endocrine, and psychiatric status. Arch Gen Psychiatry 33:607-610.
4. Bender BG, Linden MG, Robinson A. 1989. Verbal and spatial processing efficiency in 32 children with sex chromosome abnormalities. Pediatr Res 25:577-579.
5. Bender BG, Linden MG, Robinson A. 1993. Neuropsychological impairment in 42 adolescents with sex chromosomes abnormalities. Am J Med Genet 48:169-173.
6. Bender BG, Harmon, RJ, Linden MG, et al. 1999. Psychosocial competence of unselected young adults with sex chromosome abnormalities. Am J Med Genet 88:200-206.
7. Bender BG, Puck MH, Salbenblatt JA, et al. 1983. Hemispheric organisation in 47,XXY boys [letter]. Lancet 1(8316):132.
8. Bender BG, Puck MH, Salbenblatt JA, et al. 1986. Dyslexia in 47,XXY boys identified at birth. Behav Genet 16:343-354.
9. Boone KB, Anath J, Philpott L, Kaur A, Djenderedjian A. 1991. Neuropsychological characteristics of nondepressed adults with obsessive-compulsive disorder. Neuropsychiat Neuropsychol Behav Neurol 4:96-109.
10. Bornstein RA. 1985. Normative data on selected neuropsychological measures from a nonclinical sample. J Clin Psychol 41:651-658.
11. Broca P. 1865. Sur la faculté du langage articulé. Bulletin de Societé Anatomique de Paris 6:493-494.
12. Caldwell PD, Smith DW. 1972. The XXY (Klinefelter's) syndrome in childhood: Detection and treatment. J Pediatr 80:250-258.
13. Cohen JD, Perlstein WM, Braver TS, et al. 1997. Temporal dynamics of brain activation during a working memory task. Nature 386:604-608.
14. Collaer ML, Hines M. 1995. Human behavioral sex differences: A role for gonadal hormones during early development? Psychol Bull 118:55-107.
15. Corballis MC, Lee K, McManus IC, et al. 1996. Location of the handedness gene on the X and Y chromosomes. Am J Med Genet 67: 50-52.
16. Cornish KM, McManus IC. 1996. Hand preference and hand skill in children with autism. J Autism Devel Disord 26:597-609.
17. Craig JD. 1979. The effect of musical training and cerebral asymmetries on perception of an auditory illusion. Cortex 15:671-677.
18. Crow TJ. 1989. Pseudoautosomal locus for the cerebral dominance gene [letter]. Lancet 2(8658):339-40.
19. Crow TJ. 1994. The case for an X-Y homologous determinant of cerebral asymmetry. Cytogenet Cell Genet 67:393-394.
20. Decker SN, Bender BG. 1988. Converging evidence for multiple genetic forms of reading disability. Brain Lang 33:197-215.
21. Delaney RC, Prevey ML, Cramer J, Mattson RH. 1992. Test-retest comparability and control subject data for the Rey-Auditory Verbal Learning Test and Rey-Osterrieth/Taylor Complex Figures. Arch Clin Neuropsychol 7:523-528.
22. Demick J, Harkins D. 1997. Role of cognitive style in the driving skills of young, middle-aged, and older adults. American Association of Retired Persons (AARP) Andrus Foundation Final Grant Report, Washington, DC.
23. Denckla MB. 1985. Revised neurological examination for subtle signs. Psychopharmacol Bull 21:773-800.
24. Denckla MB. 1993. The child with developmental disabilities grown up: adult residua of childhood disorders. Neurol Clin 11:105-125.
25. Deutsch D. 1974. An auditory illusion. Nature 251:307-309.
26. Deutsch D. 1983. The octave illusion in relation to handedness and familial handedness background. Neuropsychologia 21:289-293.
27. Ekstrom RB, French JW, Harman HH. 1976. Kit of factor referenced cognitive tests. Princeton, NJ: Educational Testing Service.
28. Farmer A. 1990. Performance of normal males on the Boston Naming Test and The Word Test. Aphasiology 4:293-296.
29. Funderburk SJ, Ferjo N. 1978. Clinical observations in Klinefelter's (47,XXY) syndrome. J Ment Defic Res 22:207-212.
30. Galaburda A. 1991. Asymmetries of cerebral neuroanatomy. Biological asymmetry and handedness. New York: John Wiley and Sons, Inc. p 219-226.
31. Galaburda A. 1993. Dyslexia and development: Neurobiological aspects of extraordinary brains. Cambridge, MA: Harvard University Press.
32. Gazzaniga MS. 1972. One brain-two minds? Am Sci 60:311-317.
33. Geschwind DH, 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. Devel Genet 23: 215-229.
34. Geschwind DH, Gregg J, Karrim J. et al. 1997. An approach for testing gene dosage (using DNA microarrays) as a mechanism for cognitive dysfunction in Klinefelter's syndrome. Am J Hum Genet 61:714.
35. Geschwind DH, Iacoboni M. 1999. Structural and functional asymmetries of the human frontal lobes. In: Miller BL, Cummings JL, editors. The human frontal lobes: Functions and disorders. New York: The Guilford Press. p 45-70.
36. Geschwind DH, Iacoboni M, Mega MS, et al. 1995. Alien hand syndrome: Interhemispheric motor disconnection due to a lesion in the midbody of the corpus callosum. Neurology 45:802-808.
37. Geschwind N, Behan P. 1982. Left handedness: Association with immune disease, migraine, and developmental learning disability. Proc Natl Acad Sci USA 79:5079-5100.
38. Geschwind N, Galaburda A. 1985. Cerebral lateralization: Biological mechanisms, associations, and pathology. Arch Neurol 42:428-458.
39. Geschwind N, Levitsky W. 1968. Human brain: Left-right asymmetries in temporal speech region. Science 161:186-187.
40. Goldberg G. 1985. Supplementary motor area structure and function: Review and hypotheses. Behav Brain Sci 8:567-616.
41. Graham J, Bashir A, Stark R, et al. 1988. Oral and written language abilities of XXY boys: Implications for anticipatory guidance. Pediatrics 81:795-806.
42. Grigorenko EL, Wood FB, Meyer MS, et al. 1997. Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am J Hum Genet 60:27-39.
43. Halperin JR. 1992. A connectionist neural network model of aggression. Dissertation Abstracts International 52:5707.
44. Hammond G. 1982. Hemispheric differences in temporal resolution. Brain Cogn 11:95-118.
45. Harvey J, Jacobs PA, Hassold T, et al. 1991. The parental origin of 47,XXY males. Birth Defects Ong Art Ser 26:289-296.
46. Hécaen H, De Agostini M, Monzon-Montes A. 1981. Cerebral organization in left-handers. Brain Lang 12:261-284.
47. Jacobs PA, Bacino C, Hassold T, et al. 1988. A cytogenetic study of 47,XXY males of known origin and their parents. Ann Hum Genet 52:319-325.
48. Kaplan E, Goodglass H, Weintraub S. 1983. Boston Naming Test. Philadelphia: Lea and Febiger.
49. Kushch A, Gross-Glenn K, Jallad B, et al. 1993. Temporal lobe surface area measurements on MRI in normal and dyslexic readers. Neuropsychologia 31:811-821.
50. Larsen JP, Høien T, Lundberg I, et al. 1990. MRI evaluation of the size and symmetry of the planum temporale in adolescents with developmental dyslexia. Brain Lang 39:289-301.
51. Leonard M, Schowalter, JE, Landy G, Ruddle FH, et al. 1979. Chromosomal abnormalities in the New Haven Newborn Study: A prospective study of development of children with sex chromosome anomalies. Robinson A, Lubs H, Bergsma D, editors. Sex chromosome aneuploidy: Prospective studies on children, Vol. 15, No. 1. New York: Alan Liss. p 115-159.
52. Leonard MF, Sparrow S. 1986. Prospective study of development of children with sex chromosome anomalies: New Haven Study IV: Adolescence. Birth Defects Orig Art Ser 22:221-249.
53. Leonard MF, Sparrow S, Schowalter JE. 1982. A prospective study of development of children with sex chromosome anomalies: New Haven Study III: The middle years. Birth Defects Orig Art Ser 18:193-218.
54. Lezak MD. 1995. Neuropsychological assessment, 3rd ed. New York: Oxford University Press.
55. Linn MC, Petersen AC. 1985. Emergence and characterization of sex differences in spatial ability: A meta-analysis. Child Dev 56:1479-1498.
56. Maccoby EE, Jacklin CN. 1974. Myth, reality and shades of gray: What we know and don't know about sex differences. Psychology Today 8:109-112.
57. Mandoki M, Sumner G, Hoffman R, et al. 1991. A review of Klinefelter's syndrome in children and adolescents. J Am Acad Child Adolesc Psych 30:167-172.
58. McManus IC, Bryden MP. 1992. The genetics of handedness, cerebral dominance and lateralization. Handbook of Neuropsychology: Child Neuropsychology 6:115-144.
59. Miller BL, Cummings JL, editors 1999. The human frontal lobes. New York: The Guilford Press.
60. Miller M, Sulkes S. 1988. Fire-setting behavior in individuals with Klinefelter's syndrome. Pediatrics 82:115-117.
61. Mitrushina M, Boone KB, D'Elia LF. 1999. Handbook of normative data for neuropsychological assessment. New York: Oxford University Press.
62. Miyamoto A, Kitawaki K, Koida H, et al. 1993. MRI and SPECT of Klinefelter's syndrome with various neuropsychiatric symptoms: A case report. Jpn J Psychiatry Neurol 47:863-867.
63. Money J. 1993. Specific neurocognitional impairments associated with Turner (45,X) and Klinefelter (47,XXY) syndromes: A review. Soc Biol 40:147-151.
64. Netley C. 1986. Summary overview of behavioural development in individuals with neonatally identified X and Y aneuploidy. Birth Defects Orig Art Serv 22: 293-306.
65. Netley C, Rovet J. 1982a. Handedness in 47,XXY males. Lancet 2(8292):267.
66. Netley C, Rovet J. 1982b. Atypical hemispheric lateralization in Turner syndrome subjects. Cortex 18:377-384.
67. Netley C, Rovet J. 1987. Relations between a dermatoglyphic measure, hemispheric specialization, and intellectual abilities in 47,XXY males. Brain Cogn 6:153-160.
68. Netley C, Rovet J. 1984. Hemispheric lateralization in 47,XXY Klinefelter's syndrome boys. Brain Cogn 3:11-18.
69. Nielsen J, Pelsen B, Sorensen K. 1988. Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 33:262-269.
70. Nielsen J, Sorensen AM, Sorensen K. 1982. Follow-up until age 7 to 11 of 25 unselected children with sex chromosome abnormalities. In: Stewart DA, editor. Children with sex chromosome aneuploidy: Follow-up studies, Vol. 18, No. 4. New York: Alan R. Liss. p 61-98.
71. Nielsen J, Sorensen K. 1984. The importance of early diagnosis of Klinefelter's syndrome. In Bandman H-J, and Breit R, editors. Klinefelter's Syndrome. Berlin: Springer-Verlag, p 170-187.
72. Nielsen J, Wohlert M. 1991. Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Art Ser 26:209-223.
73. Pennington BF. 1990. The genetics of dyslexia. Am J Med Genet 35:28-35.
74. Pennington BF, Smith SD. 1983. Genetic influences on learning disabilities and speech and language disorders. Child Dev 54:369-387.
75. Porter ME, Gardner HA, DeFeudis P, et al. 1988. Verbal deficits in Klinefelter (XXY) adults living in the community. Clin Genet 33:246-253.
76. Rappold GA. 1993. The pseudoautosomal regions of the sex chromosomes. Hum Genet 92: 315-324.
77. Ratcliffe S. 1982. The sexual development of boys with the chromosome constitution 47,XXY (Klinefelter's syndrome). Clin Endocrinol Metab 11:703-716.
78. Ratcliffe SG, Bancroft J, Axworthy, et al. 1982. Klinefelter's syndrome in adolescence. Arch Dis Child 57:6-12.
79. Ratcliffe SG, Butler GE, Jones M. 1991. Edinburgh study of growth and development of children with sex chromosome abnormalities. IV. Birth Defects Orig Art Ser 26:1-44.
80. Ratcliffe S, Read G, Pan H, et al. 1994. Prenatal testosterone levels in XXY and XYY males. Horm Res 42:106-109.
81. Reiss AL, Freund LS, Baumgardner TL, et al. 1995a. Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nat Genet 11:331-334.
82. Reiss AL, Abrams MT, Greenlaw R, et al. 1995b. Neurodevelopmental effects of the FMR-1 full mutation in humans. Nat Med 1:159-67.
83. Robinson A, Bender BG, Borelli JB, et al. 1986. Sex chromosomal aneuploidy: prospective and longitudinal studies. Birth Defects Orig Art Ser 22:23-71.
84. Robinson A, Bender BG, Linden MG. 1991. Sex chromosome aneuploidy: The Denver Prospective Study. Birth Defects Orig Art Ser 26:59-115.
85. Robinson A, Bender BG, Linden MG, Salbenblatt JA. 1990. Sex chromosome aneuploidy: The Denver Prospective Study. Birth Defects Orig Art Ser 26:59-115.
86. Robinson A, Linden MG, Bender BG. 1998. Prenatal diagnosis of sex chromosome abnormalities. In: Milunsky A, editor. Genetic disorders and the fetus: Diagnosis, prevention, and treatment, 4th ed. Baltimore: Johns Hopkins Press, p 249-285.
87. Roof RL, Havens MD. 1992. Testosterone improves male performance and induces development of a male hippocampus in females. Brain Res 14:310-313.
88. Ross JL, Stefanatos G, Roeltgen D, et al. 1995. Ullrich-Turner syndrome: Neurodevelopmental changes from childhood through adolescence. Am J Med Genet 58:74-82.
89. Rovet J, Netley C. 1983. The triple X chromosome syndrome in childhood: Recent empirical findings. Child Dev 54:831-845.
90. Rovet J, Netley C, Keenan M, et al. 1996. The psychoeducational profile of boys with Klinefelter syndrome. J Learn Disabil 29:180-196.
91. Ruff RM, Light RH, Parker SB, Levin HS. 1996. Benton Controlled Oral Word Association Test: Reliability and updated norms. Arch Clin Neuropsychol 11:329-338.
92. Salbenblatt JA, Meyers DC, Bender BG, et al. 1987. Gross and fine motor development in 47,XXY and 47,XYY males. Pediatrics 80: 240-244.
93. Schiavi RC, Theilgaard A, Owen DR, et al. 1984. Sex chromosome anomalies, hormones, and aggressivity. Arch Gen Psychiatry 41:93-99.
94. Selnes OA, Jacobson L, Machado AM, Becker JT, Wesch J, Miller EN, Visscher B, McArthur JC. 1991. Normative data for a brief neuropsychological screening battery. Percept Mot Skills 73:539-550.
95. Serra A, Pizzamiglio L, Boari A, Spera S. 1978. A comparative study of cognitive traits in human sex chromosome aneuploids and sterile and fertile euploids. Behav Genet 8:143-154.
96. Shaywitz BA, Fletcher JM, Shaywitz SE. 1995. Defining and classifying learning disabilities and attention-deficit/hyperactivity disorder. J Child Neurol 10(suppl 1):S50-S57.
97. Skuse DH, James RS, Bishop DV, et al. 1997. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708.
98. Sorensen K. 1992. Physical and mental development of adolescent males with Klinefelter syndrome. Horm Res 37(suppl 3):55-61.
99. Steinmetz H, Volkmann J, Jäncke L, et al. 1991. Anatomical left-right asymmetry of language-related temporal cortex is different in left and right-handers. Ann Neurol 29:315-319.
100. Stewart DA, Bailey JD, Netley CT, et al. 1986. Growth and development from early to mid-adolescence of children with X and Y chromosomal aneuploidy: The Toronto study. In: Ratcliffe SG, Paul N, editors. Prospective studies on children with sex chromosome aneuploidy, Vol. 22, No 3. New York: Alan R. Liss. p 119-182.
101. Stewart DA, Bailey JD, Netley CT, et al. 1982. Growth and development of children with X and Y chromosome aneuploidy from infancy to pubertal age: The Toronto Study. Birth Defects Orig Art Ser 18:99-154.
102. Stewart DA, Netley CT, Bailey JD, et al. 1979. Growth and development of children with X and Y chromosome aneuploidy. Birth Defects Orig Art Ser 15:75-114.
103. Tallal P, Miller S, Fitch RH. 1993. Neurobiological basis of speech: A case for the preeminence of temporal processing. Ann NY Acad Sci 682:27-47.
104. Theilgaard A. 1984. A psychological study of the personality of XYY-and XXY-men. Acta Psychiatr Scand Supplement 69(suppl 315):1-133.
105. Tonnessen FE, et al. 1993. Dyslexia, left-handedness, and immune disorders. Arch Neurol 50: 411-416.
106. Wada JA, Clarke R, Hamm A. 1975. Cerebral hemispheric asymmetry in humans. Cortical speech zones in 100 adults and 100 infant brains. Arch Neurol 32:239-246.
107. Waltz JA, Knowlton BJ, Holyoak KJ, et al. 1999. A system for relational reasoning in human prefrontal cortex. Psychological Science 10:119-125.
108. Walzer S, Bashir AS, Silbert AR. 1991. Cognitive and behavioral factors in the learning disabilities of 47,XXY and 47,XYY boys. Birth Defects Orig Art Ser 26:45-58.
109. Walzer S, Graham JM, Bashir A. 1982. Preliminary observations on language and learning in XXY boys. In: Stewart DA, editor. Children with sex chromosome aneuploidy: Follow-up studies, Vol. 18, No. 4. New York: Alan R. Liss. p 185-192.
110. Wesner CE, Spangler P, Petrides A, et al. 1973. Prepubertal Klinefelter syndrome: A report of six cases. J Ment Defic Res 17:237-246.
111. Williams CL, Meek WH. 1993. Organizational effects of gonadal hormones induce qualitative differences in visuospatial navigation. In: Haug M, et al., editors. The development of sex differences and similarities in behavior. Netherlands: Kluwer Academic Publishers, p 175-189.
112. Witelson SF. 1989. Hand and sex differences in the isthmus and genu of the human corpus callosum. A postmortem morphological study. Brain 112:799-835.
113. Witelson SF, Pallie W. 1973. Left hemisphere specialization for language in the newborn: Neuranatomical evidence of asymmetry. Brain 96:641-646.
114. Wolff PH, Michel GF, Ovrutt M, Drake C. 1990. Rate and timing precision of motor coordination in developmental dyslexia. Dev Psych 26:349-359.