Abstract
Turner syndrome (TS) is a chromosomal disorder in which all, or a substantial part, of one X chromosome is missing due to nondisjunction, or chromosome loss, during gametogenesis or early cleavage of the zygote. The condition is associated with a range of psychosocial difficulties, primarily involving immaturity and problems with social relationships, although intelligence is usually entirely normal for verbal skills (1–4). Girls with this disorder have been described as characteristically immature, with a poor self-concept, relative to normal comparisons of similar age. There is some evidence that self-esteem declines as they pass from earlier childhood into adolescence. Within-group differences in stature, relative to the normal range, are not predictive of social adjustment, which suggests that whatever factors do contribute to poor social adjustment, short stature as such is unlikely to be of major significance (5,6). The problems in social adjustment do persist over time. Studies of older individuals have found that impairment in the ability to make and sustain friendships, which often becomes apparent during adolescence, often continues into adult life (4).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Rovet JF, Ireland L. The behavioural phenotype in children with Turner syndrome. Ped Psychol 1994; 19: 779–90.
McCauley E, Kay T, Ito J, Trader R. The Turner syndrome: cognitive deficits, affective discrimination and behavior problems. Child Dev 1987; 58: 464–73.
McCauley E, Ross JL, Kushner H, Cutler G. Self-esteem and behavior in girls with Turner syndrome. Dev Behav Pediatr 1995; 16: 82–88.
Downey J, Elkin EJ, Erhardt AA, Meyer-Bahlburg M, Bell J, Morishima A. Cognitive ability and everyday functioning in women with Turner syndrome. J Learn Dis 1991; 24: 32–39.
Downey J, Ehrhardt AA, Gruen R, Morishima A, Bell J. Turner syndrome versus constitutional short stature: psychopathology and reactions to height. In: Stabler B, Underwood LE, eds. Slow grows the child: psychosocial aspects of growth delay. Hillsdale, NJ: Lawrence Erlbaum Associates, 1986: 123–38.
McCauley E, Ito J, Kay T. Psychosocial functioning in girls with the Turner syndrome and short stature. J Am Acad Child Psychiatr 1986; 25: 105–12.
Shaffer J. A specific cognitive deficit observed in gonadal aplasia (Turner’s syndrome). J Clin Psychol 1962; 18: 403–6.
Wechsler D. Wechsler Preschool and Primary Scales of Intelligence-revised. San Antonio: Psychological Corporation, 1989.
Wechsler D. Wechsler Intelligence Scale for Children-Third UK edition. Sidcup, Kent: Psychological Corporation, 1992.
Ross JL, Kushner H, Zinn AR. Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile. Am J Med Genet 1997; 72: 275–80.
Harris DB. Children’s drawings as measures of intellectual maturity: a revision and extension of the Goodenough Draw-A-Man Test. New York: Harcourt, Brace and World, 1963.
Waber DP, Holmes JM. Assessing children’s memory productions of the Rey-Osterrieth complex figure. J Clin Exp Neuropsychol 1986; 8: 563–80.
Stroop JR. Studies of interference in serial verbal reactions. J Exp Psychol 1935; 18: 643–62.
Welsh MC. Rule-guided behaviour and self-monitoring on the Tower of Hanoi disk transfer task. Cog Dev 1991; 6: 59–76.
Temple CM, Carney TA, Mullarkey S. Frontal lobe function and executive skills in children with Turner’s syndrome. Dev Neuropsychol 1996; 12: 343–63.
Collins AL, Lockwell AE, Jacobs PA, Dennis NR. A comparison of the clinical and cytogenetic findings in 9 patients with a ring (X) cell line and 16 45,X patients. J Med Genet 1994; 31: 528–33.
Temple CM, Carney RA. Reading skills in children with Turner’s syndrome: an analysis of hyperlexia. Cortex 1996; 31: 109–18.
Temple CM, Carney RA. Intellectual functioning in children with Turner’s syndrome: a comparison of behavioral phenotypes. Dev Med Child Neurol 1993; 35: 691–98.
Salbenblatt JA, Meyers DC, Bender B, Linden M, Robinson A. Gross and fine motor development in 45,X and 47XXX girls. Pediatrics 1989; 84: 678–87.
Temple CM, Carney RA. Patterns of spatial functioning in Turner’s syndrome. Cortex 1995; 31: 109–18.
Netley C, Rovet J. Atypical hemispheric lateralization in Turner syndrome subjects. Cortex 1982; 18: 377–84.
Jacobs PA, Betts PR, Cockwell AE, Crolla JA, Mackenzie MJ, Robinson DO, et al. A cytogenetic and molecular reappraisal of a series of patients with Turner’s syndrome. Ann Hum Gen 1990; 54: 209–23.
Lyon MF. X-chromosome inactivation. Pinpointing the centre. Nature 1996; 379: 116–17.
Achenbach TM. Manual for the child behavior checklist/4–18 and 1991 profile. Burlington, VT: Department of Psychiatry, University of Vermont, 1991a.
Achenbach TM. Manual for the teacher’s report form and 1991 profile. Burlington, VT: Department of Psychiatry, University of Vermont, 1991c.
Achenbach TM. Manual for the youth self-report form and 1991 profile. Burlington, VT: Department of Psychiatry, University of Vermont, 1991b.
Skuse D, Percy EL, Stevenson J. Psychosocial functioning in the Turner syndrome: a national survey. In: Stabler B, Underwood L. eds. Growth, stature, and adaptation. Behavioral, social, and cognitive aspects of growth delay. Chapel Hill: University of North Carolina Press, 1994: 151–64.
Wechsler D. Wechsler Adult Intelligence Scales—revised. New York: Psychological Corporation, 1986.
Damasio AR. On some functions of the human prefrontal cortex. Proc New York Acad Sci 1995; 769: 241–51.
Pennington BF, Ozonoff S. Executive functions and developmental psychopathology. J Child Psychol Psychiatr 1996; 37: 51–87.
Manly T, Robertson IH, Anderson V, Nimmo-Smith I. The test of everyday attention for children (TEACh). Bury St. Edmunds, U.K.: Thames Valley Test Company, 1998.
Thurstone L. Primary mental abilities. Chicago: University of Chicago Press, 1938.
Grant DA, Berg EA. A behavioral analysis of degree of reinforcement and ease of shifting to new responses in Weigl-type card sorting problems. J Exp Psychol 1948; 38: 404–11.
Shallice T. Specific impairments of planning. Phil Trans Roy Soc London, series B, 1982; 298: 199–209.
Borys SV, Spitz HH, Dorans BA. Tower of Hanoi performance of retarded young adults and nonretarded children as a function of solution length and goal state. J Exp Child Psychol 1982; 33: 87–110.
Rabbitt PMA. Introduction to methodologies and models in the study of executive function. In: Rabbitt P.M.A., ed. Methodologies of frontal and executive function. Hove: Psychology Press, 1997: 1–38.
Jacobs PA, Dalton P, James R, Mosse K, Power M, Robinson D, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet, 1997; 61: 471–83.
Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995; 57: 1400–7.
Freeman JV, Cole TJ, Chin S, Jones PRM, White EM, Preece MA. Cross-sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 1995; 73: 17–24.
Boyce L, Cole T. Castlemead Growth Program. Welwyn Garden City: Castlemead Publications, 1993.
Hassold T, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum Genet 1992; 89: 647–52.
Pennington BF, Heaton RK, Karzmark P, Pendleton MG, Lehman R, Shucard DW. The neuropsychological phenotype in Turner syndrome. Cortex 1985; 21: 391–404.
Skuse DH, James RS, Bishop DVM, Coppins B, Dalton P, Aamodt-Leeper G, et al. Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature 1997; 387: 705–8.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2000 Springer Science+Business Media New York
About this paper
Cite this paper
Skuse, D., Bishop, D., Elgar, K., Morris, E. (2000). Phenotype-Karyotype Relationships in Turner Syndrome. In: Stabler, B., Bercu, B.B. (eds) Therapeutic Outcome of Endocrine Disorders. Serono Symposia USA. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-1230-0_8
Download citation
DOI: https://doi.org/10.1007/978-1-4612-1230-0_8
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4612-7052-2
Online ISBN: 978-1-4612-1230-0
eBook Packages: Springer Book Archive