Chromosomes, Genes and Autism

  • Randi J. Hagerman
Chapter

Abstract

Advances of the last decade in medical science, particularly in the fields of cytogenetic and metabolic disease, have elucidated specific etiologies for many individuals with autism. Although the largest group still remains idiopatic, detailed studies have demonstrated a documentable organic etiology in over 25% of children with autism (Gillberg Wahlström, 1985). The most prevalent single etiology for autism is the fragile X syndrome. Since the association was first identified by Brown and co-workers in 1982, cytogenetic studies have become an integral part of the medical workup of children with autism and pervasive development delays. The search for fragile X has enhanced our appreciation of all types of cytogenetic abnormalities in individuals with developmental disabilites. When fragile Xis not found, occasionally other abnormalities, including autosomal or sex chromosomal problems, are present (Gillberg & Wahlström, 1985; Hagerman et al., 1988). This chapter will review the association of autism with cytogenetic abnormalites, including the fragile X syndrome and, to a lesser degree, single gene disorder.

Keywords

Down Syndrome Congenital Adrenal Hyperplasia Autistic Child Asperger Syndrome Medical Genetic 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. American Psychiatric Assocation. (1980). Diagnostic and Statistical Manual of Mental Disorders. DSM-III (3rd ed) (pp 87–90 ). Washington, DC: Author.Google Scholar
  2. American Psychiatric Assocation. (1987). Diagnostic and Statistical Manual of Mental Disorders. DSMII1-R (3rd revised ed.) (pp 38–89 ). Washington, DC: Author.Google Scholar
  3. Asperger, H. (1944). Die autistishen Psychopathen im Kindersalter. Archiv Ku Psychiatric und Nervenkrankheiten, 117, 6–136.Google Scholar
  4. August, G. J., Lockhart, L. H. (1984). Familial autism and the fragile X chromosome. Journal of Autism and Developmental Disorders, 14, 197–204.PubMedCrossRefGoogle Scholar
  5. Bancroft, J., Axworthy, D., Ratcliffe, S. (1982). The personality and psycho-sexual development of boys with 47XXY chromosome constitution. Journal of Child Psychology and Psychiatry, 23, 169–180.CrossRefGoogle Scholar
  6. Barthelemy, C., Bruneau, N., Cottet-Ermard, J. M., Domenech-Jouve, J., Carreau, B., Lelord, G., Muh, J. P., Peyrin, L. (1988). Urinary free and conjugated catecholamines and metabolites in autistic children. Journal of Autism and Developmental Disorders, 18, 583–591.CrossRefGoogle Scholar
  7. Bender, B., Fry, E., Pennington, B., Puck, M., Salbenblatt, J., Robinson, A. (1983). Speech and language development in 41 children with sex chromosome anomalies. Pediatrics, 71, 262–267.Google Scholar
  8. Bender, B. G., Linder, M. G., Robinson, A. (1987). Environment and developmental risk in children with sex chromosome abnormalities. Journal of the American Academy of Child and Adolescent Psychiatry, 26, 499–503.CrossRefGoogle Scholar
  9. Benezech, M., Noel, B. (1985). Fragile X syndrome and autism. Clinical Genetics, 28, 93.CrossRefGoogle Scholar
  10. Blomquist, M. K., Bohman, M., Edvinsson, S. O., Gillberg, C., Gustayson, K. H., Holmgren, G., Wahlström, J. (1985). Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clinical Genetics, 27, 113–117.Google Scholar
  11. Borghgraef, M., Fryns, J. P., Dielkens, A., Dyck, K., Van den Berghe, H. (1987). Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients. Clinical Genetics, 32, 179–186.Google Scholar
  12. Borghgraef, M., Fryns, J. P., Smeets, E., Marten, J., Van den Berghe, H. (1988). The 49,XXXXY syndrome. Clinical and psychological followup data. Clinical Genetics, 33, 429–434.Google Scholar
  13. Bregman, J. D., Leckman, J. F., Ort, S. I. (1988). Fragile X syndrome: genetic predisposition to psychopathology. Journal of Autism and Developmental Disorders, 18, 343–354.CrossRefGoogle Scholar
  14. Brendum-Nielsen, K. (1983). Diagnosis of the fragile X syndrome (Martin-Bell syndrome), clinical findings in 27 males with the fragile site at Xq28. Journal of Mental Deficiency Research, 27, 211–226.Google Scholar
  15. Brown, W. T., Jenkins, E. C., Friedman, E., Brooks, J., Wisnicwski, K., Raguthu, S., French, J. (1982). Autism is associated with the fragile X syndrome. Journal of Autism and Developmental Disorders, 12 303–308.CrossRefGoogle Scholar
  16. Brown, W. T., Jenkins, E. C., Cohen, I. L., Fisch, G. S., Wolf-Schein, E. G., Gross, A., Waterhouse, L, Fein, D., Mason-Brothers, A., Ritvo, E., Rittenberg, B. A., Bentley, W., Castells, S. (1986). Fragile X and autism: a multicenter survey. American Journal of Medical Genetics, 23, 341–352.CrossRefGoogle Scholar
  17. Buhler, E. M. (1980). A synopsis of the human Y chromosome. Human Genetics, 55, 145–175.PubMedCrossRefGoogle Scholar
  18. Chudley, A. E., Knoll, J., Gerrard, J. W., Shepel, L., McGahey, E., Anderson, J. (1983). Fragile (X) X-linked mental retardation. I: relationship between age and intelligence and the frequence of expression of fragile (X) (q28). American Journal ofMedical Genetics, 14, 669–712.Google Scholar
  19. Chudley, A. E., Hagerman, R J. (1987). Fragile X syndrome. Journal of Pediatrics, 110, 821–831.Google Scholar
  20. Cohen, I. L., Fisch, G. S., Wolf-Schein, E. G., Sudhalter, V., Hanson, D., Hagerman, R J., Jenkins, E. C., Brown, T. W. (1988). Social avoidance and repetitive behavior in fragile X males: a controlled study. American Journal of Mental Retardation, 92, 436–446.Google Scholar
  21. Cohen, I. L. (1989). Autism and the fragile X syndrome. Paper presented at the 2nd National Fragile X Conference sponsored by the National Fragile X Foundation, April 5–8, Denver, Colorado.Google Scholar
  22. Cohen, I. L., Vietze, P. M., Sudhalter, V., Jenkins, E. C., Brown, W. T. (1989). Parent-child dyadic gaze patterns in fragile X males and in nonfragile X males with autistic disorder. Journal of Child Psychology and Psychiatry (in press).Google Scholar
  23. Coleman, M. (1976). 7äe Autistic Syndromes Amsterdam: North-Holland Publishing Co.Google Scholar
  24. Courchesne, E., Yeung-Courchesne, R., Press, G. A., Hesselink, J. R, Jernigan, T. L. (1988). Hypoplasia of cerebellar vermal lobules IV and III in autism. New England Journal of Medicine, 318, 1349–1354.CrossRefGoogle Scholar
  25. Crandall, B. F., Carrel, R. E., Sparkes, R S. (1972). Chromosome fmdings in 700 children referred to a psychiatric clinic. Journal ofPediatrics, 80, 62–68.Google Scholar
  26. Creak, E. M. (1963). Childhood psychosis. British Journal of Psychiatry, 109, 84–89.PubMedCrossRefGoogle Scholar
  27. Cronister, A., Hagerman, R, Schreiner, B., Wittenberger, M., Harris, K, Shadwell, D. (1988). Physical, historical and cognitive features of heterozygous females (abstract). American Journal of Human Genetics, 43, A44 ( 0176).Google Scholar
  28. Crowe, R R., Tsai, L. Y., Murray, J. C., Patil, S. R., Quinn, J. (1988). A study of autism using X chromosome DNA probes. Biological Psychiatry, 24, 473–479.Google Scholar
  29. Dorus, E. (1980). Variability in the Y chromosome and variability of human behavior. Archives of General Psychiatry, 37, 587–594.PubMedCrossRefGoogle Scholar
  30. Dykens, E M., Hodapp, R M., Leclanan, J. F. (1987). Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome. American Journal ofMental Deficiency, 92, 234–236.Google Scholar
  31. Edwards, D. R., Keppen, L. D., Ranells, J. D., Gollin, S. M. (1988). Autism in association with fragile X syndrome in females: implications for diagnosis and treatment. Neurotoxicology, 9, 359–366.Google Scholar
  32. Fisch, G. S., Cohen, I. L., Jenkins, E. C., Brown, W. T. (1988). Screening developmentally disabled male populations for fragile X: The effect of sample size. American Journal of Medical Genetics, 30, 655–663.Google Scholar
  33. Folstein, S. E., Rutter, M. L. (1988). Autism: familial aggregation and genetic implications. Journal of Autism and Developmental Disorders, /8, 3–20.Google Scholar
  34. Friedman, E. (1969). The autistic syndrome and phenylketonuria Schizophrenia Bulletin, 1, 249–261.Google Scholar
  35. Fryns, J. P., Jacobs, J., Kleczkowska, A., Van den Berghe, H. (1984). The psychological profile of the fragile X syndrome. Clinical Genetics, 25, 131–134.CrossRefGoogle Scholar
  36. Fryns, J. P., Van den Berghe, H. (1988). The concurrence of Klinefelter syndrome and fragile X syndrome. American Journal of Medical Genetics, 30, 109–113.CrossRefGoogle Scholar
  37. Fuster, C., Templado, C., Miro, R, Barrios, L., Egozcue, J. (1988). Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. Human Genetics, 78, 293.Google Scholar
  38. Gilbert, E. F., Opitz, J. M. (1982). Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. In H. S. Rosenberg J. Bernstein (Eds.), Perspectives in Pediatric Pathology, Vol. 7, New York: Masson Publ.Google Scholar
  39. Gillberg, C. (1983). Identical triplets with infantile autism and the fragile X syndrome. British Journal of Psychiatry, 143, 256–260.PubMedCrossRefGoogle Scholar
  40. Gillberg, C., Winnergard, I., Wahlström, J. (1984). The sex chromosomes–one key to autism? An XYY case of infantile autism. Applied research in Mental Retardation, 5, 353–360.CrossRefGoogle Scholar
  41. Gillberg, C., Wahlström, J. (1985). Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases. Developmental Medicine and Child Neurology, 27, 293–304.Google Scholar
  42. Gillberg, C. (1985). Asperger’s syndrome and recurrent psychosis–a case study. Journal of Autism and Developmental Disorders, 15, 389–396.PubMedCrossRefGoogle Scholar
  43. Gillberg, C., Persson, E., Wahlström, J. (1986). The autism-fragile X syndrome (AFRAX): a population based study of ten boys. Journal of Mental Deficiency Research, 30, 27–39.Google Scholar
  44. Gillberg, C., Steffenburg, S., Jakobsson, G. (1987). Neurobiological findings in 20 relatively gifted children with Kanner-type autism or Asperger syndrome. Development Medicine and Child Neurology, 29, 641–649.PubMedGoogle Scholar
  45. Gillberg, C., Ohlson, V. A., Wahlström, J., Steffenburg, S., Blix, K. (1988). Monozygotic female twins with autism and the fragile-X syndrome (AFRAX). Journal of Child Psychology and Psychiatry, 29, 447–451.PubMedCrossRefGoogle Scholar
  46. Goldfine, P. E., McPherson, P. M., Heath, G. A., Hardesty, V. A., Beauregard, L. J., Gordon, B. (1985). Assocation of fragile X syndrome with autism. American Journal of Psychiatry, 142, 108–110.Google Scholar
  47. Goldfine, P. E., McPherson, P. M., Hardesty, V. A., Heath, G. A., Beauregard, L. J., Baker, A. A. (1987). Fragile-X chromosome associated with primary learning disability. Journal of the American Academy of Child and Adolescent Psychiatry, 26, 89–592.Google Scholar
  48. Hagberg, B., Aicardi, J., Dias, K., Ramos, 0. (1983). A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome: report of 35 cases. Annals of Neurology, 14, 471–479.Google Scholar
  49. Hagerman, R J., Smith, A. C. M. (1983). The heterozygous female. In The Fragile X Syndrome: Diagnosis, Biochemistry and Intervention. Dillon, Colorado: Spectra Publishing, Co.Google Scholar
  50. Hagerman, R. J., Kemper, M., Hudson, M. (1985). Learning disabilities and attentional problems in boys with the fragile X syndrome. American Journal of Diseases of Children, 139, 674–678.Google Scholar
  51. Hagerman, R. J., Chudley, A. E., Knoll, J. H., Jackson, A. W., Kemper, M., Ahmad, R. (1986). Autism in fragile X females. American Journal of Medical Genetics, 23, 375–380.CrossRefGoogle Scholar
  52. Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., Braden, M. (1986). An analysis of autism in 50 males with the fragile X syndrome. American Journal of Medical Genetics, 23, 359–370.Google Scholar
  53. Hagerman, R J., Jackson, A. W., Levitas, A., Braden, M., McBogg, P., Kemper, M., McGavran, L., Berry, R., Matus, I., Hagerman, P. (1986). Oral folic acid versus placebo in the treatment of males with fragile X syndrome. American Journal of Medical Genetics, 23, 241–262.PubMedCrossRefGoogle Scholar
  54. Hagerman, R. J. (1987a). Fragile X syndrome (monograph). Current Problems in Pediatrics, 17, 621–674.PubMedGoogle Scholar
  55. Hagerman, R. J. (1987b). Possible similarities between the fragile X and Asperger syndrome (letter). American Journal ofDiseases of Children, 141, 601–602.Google Scholar
  56. Hagerman, R. J., Berry, R., Jackson, A. W., Campbell, J., Smith, A. C. M., McGavran, L. (1988). Institutional screening for the fragile X syndrome. American Journal ofDiseases of Children, 142, 1216–1221.Google Scholar
  57. Hagerman, R. J., Sobesky, W. E. (1989). Psychopathology in fragile X syndrome. American Journal of Orthopsychiatry, 59, 142–152.CrossRefGoogle Scholar
  58. Hansen, A., Brask, B. H., Nielson, J., Rasmussen, K., Silesen, I. (1977). A case report of an autistic girl with an extra bisatellited marker chromosome. Journal of Autism and Childhood Schizophrenia, 7, 263–267.Google Scholar
  59. Hanson, D. M., Jackson, A. W., Hagerman, R. J. (1986). Speech disturbances (Cluttering) in Mildly Impaired Males with the Martin-Bell/Fragile X Syndrome. American Journal of Medical Genetics, 23, 195–206.Google Scholar
  60. Hook, E. 13. (1973). Behavioral implications of the human XYY genotype. Science, 179, 139–150.PubMedCrossRefGoogle Scholar
  61. Hoshino, Y., Yashima, Y., Tachibana, R., Koneko, M., Watanabe, M., Kumashiro, H. (1979). Sex chromosome abnormalities in autistic children: long Y chromosome. Fukushima Journal of Medical Science, 26, 31–42.PubMedGoogle Scholar
  62. Hunt, A., Dennis J. (1987). Psychiatric disorder among children with tuberous sclerosis. Developmental Medicine and Child Neurology, 29, 190–198.CrossRefGoogle Scholar
  63. Jacobs, P. A. (1977). Epidemiology of chromosomal abnormalities in man. American Journal of Epidemiology, 105, 180.Google Scholar
  64. Jacobs, P. A., Mayer, M., Matsuura, J., Rhoades, F., Yu, S. C. (1983). Cytogenetic study of a population of mentally retarded males with special reference to the marker X chromosome. Human Genetics, 63, 139–148.Google Scholar
  65. Jayakar, P., Chudley, A. E., Ray, M., Evans, J. A., Perlov, J., Wand, R. (1986). Fra(2) (q13) and Inv(9) (pi íp12) in autism: casual relationship. American Journal of Medical Genetics, 23, 381–392.CrossRefGoogle Scholar
  66. Jorgensen, O. S., Brandum-Nielsen, K., Isager, T., Mouridsen, S. E. (1984). Fragile X-chromosome among child psychiatric patients with disturbances of language and social relationships. Ada Psychiatrica Scandinavica, 70, 510–514.Google Scholar
  67. Judd, L. L., Mandell, A. J. (1968). Chromosome studies in early infantile autism. Archives of General Psychiatry, 18, 450–457.Google Scholar
  68. Kemper, M., Hagerman, R. J., Ahmad, R S., Mariner, R (1986). Cognitive profiles and the spectrum of clinical manifestations in heterozygous fragile X females. American Journal of Medical Genetics, 23, 139–156.Google Scholar
  69. Kerbeshian, J., Burd, L, Martsolf, J. (1984). A family with fragile X syndrome. Journal of Nervous and Mental Disease, 172, 549–551.Google Scholar
  70. Kotsopoulous, S., Kutty, K. M. (1979). Histidinemia and infantile autism. Journal of Autism and Developmental Disorders, 9, 55–60.CrossRefGoogle Scholar
  71. Krug, B. A., Arick, J. R, Almond, P. J. (1980). Autism Screening Instrument for Educational Planning revised Portland, Oregon: ASIEP Educational Co.Google Scholar
  72. Largo, R H., Schinzel, A. (1985). Development and behavioral disturbances in 13 boys with fragile X syndrome. European Journal of Pediatrics, /43,269–275.Google Scholar
  73. LeCouteur, A., Rutter, M., Summers, D., Butler, L. (1988). Fragile X in female autistic twins. Journal of Autism and Developmental Disorders, /4, 458–460.Google Scholar
  74. Ledbetter, D. H., Rich, D. C., O’Connell, P., Leppert, M., Carey, J. (1989). Precise localization of NFI to 17g11.2 by balanced translocation. American Journal of Human Genetics 44, 20–24.Google Scholar
  75. Levitas, A., Hagerman, R. J., Braden, M., Rimland, B., McBogg, P., Matus, I. (1983). Autism and the fragile X syndrome. Journal of Developmental Behavioral Pediatrics, 4, 151–158.CrossRefGoogle Scholar
  76. Linden, M. G., Bender, B. G., Harmon, R. J., Mrazek, D. A., Robinson, A. (1978). 47XXX: what is the prognosis? Pediatrics, 82, 619–630.Google Scholar
  77. Lubs, H. A. (1969). A marker X chromosome. American Journal of Human Genetics, 21, 231–244.PubMedGoogle Scholar
  78. Madison, L. S., George, C., Moeschler, J. B. (1986). Cognitive functioning in the fragile X syndrome: a study of intellectual memory and communication skills. Journal of Mental Deficiency Research, 30, 129–148.Google Scholar
  79. Mallin, S. R., Walker, F. A. (1972). Effects of the XYY karyotype in one of 2 brothers with congenital adrenal hyperplasia. Clinical Genetics, 3, 490–494.Google Scholar
  80. Mansheim, P. (1979). Tuberous sclerosis and autistic behaviour. Journal of Clinical Psychiatry, 40, 97–98.PubMedGoogle Scholar
  81. Mariner, R., Jackson, A. W., Levitas, A., Hagerman, R. J., Braden, M., McBogg, P. M., Berry, R., Smith, A. C. M. (1986). Autism, mental retardation and chromosomal abnormalities. Journal of Autism and Developmental Disorders, 16, 425–440.CrossRefGoogle Scholar
  82. Maffei, J. F., Mattei, M. G., Aumeras, C., Auger, M., Giraud, F. (1981). X-linked mental retardation with the fragile X, a study of 15 families. Human Genetics, 59, 281–289.Google Scholar
  83. McGillivray, B. C., Herbst, D. S., Dill, F. J., Sandercock, H. J., Tischler, B. (1986). Infantile Autism: an occasional manifestation of fragile X mental retardation. American Journal ofMedical Genetics, 23, 353–358.Google Scholar
  84. Meryash, D. L., Szymanski, L. S., Gerald, P. S. (1982). Infantile autism associated with the fragile X syndrome. Journal of Autism and Developmental Disorders, 12, 295–301.PubMedCrossRefGoogle Scholar
  85. Newall, K., Sanbome, B., Hagerman, R. (1983). Speech and language dysfunction in the fragile X syndrome. In R J. Hagerman P. McBogg (Eds.), The Fragile X Syndrome: Diagnosis, Biochemistry and Intervention. Dillon, Colorado: Spectra Publishing Co.Google Scholar
  86. Nielsen, J., Christensen, K. R., Friedrich, U., Zeuthen, E., Ostergaard, O. (1973). Childhood of males with XYY syndrome. Journal of Autism and Chilhood Schizophrenia, 3, 5–26.CrossRefGoogle Scholar
  87. Opitz, J. M., Sutherland, G. R (1984). Conference report: international workshop on the fragile X and X-linked mental retardation. American Journal of Medical Genetics, 17, 5–94.Google Scholar
  88. Opitz, J. M. (1986). On the gates of hell and a most unusual gene. American Journal of Medical Genetics, 23, 1–10.PubMedCrossRefGoogle Scholar
  89. Ornitz, E. M., Guthrie, D., Farley, A. H. (1977). The early development of autistic children. Journal of Autism and Childhood Schizophrenia, 7, 207–229.CrossRefGoogle Scholar
  90. Pennington, B., Smith, S. D. (1988). Genetic influences on learning disabilities: an update. Journal of Consulting and Clinical Psychology, 54, 817–823.CrossRefGoogle Scholar
  91. Polani, P. E. (1977). Abnormal sex chromosomes, behavior and mental disorder. In J. M. Tanner (Ed.), Developments in Psychiatric Research. London: Hoddler and Straughton, Ltd.Google Scholar
  92. Proops, R., Webb, T. (1981). The fragile X chromosome in the Martin-BellRenpenning syndrome and in males with other forms of familial mental retardation. Journal of Medical Genetics, 18, 366–373.Google Scholar
  93. Pueschel, S. M., Herman, R., Groden, G. (1985). Brief report: Screening children with autism for fragile-X syndrome and phenylketonuria. Journal of Autism and Developmental Disorders, 15,335-338.Google Scholar
  94. Reiss, A. L., Feinstein, C., Rosenbaum, K. N. (1986). Autism and genetic disorders. Schizophrenia Bulletin, 12, 724–738.CrossRefGoogle Scholar
  95. Reiss, A. L. (1988a). Cerebellar hypoplasia and autism. New England Journal of Medicine, (letter), 319, 1152–1153.Google Scholar
  96. Reiss, A. L. (1988b). Neuroanatomical variation in the fragile X syndrome, paper presented to American College of Neuropsychopharmacology, San Juan, Puerto Rico, December 1988.Google Scholar
  97. Reiss, A. L., Hagerman, R. J., Vinogradov, S., Abrams, M., King, R. J. (1988). Psychiatric disability in female carriers of the fragile X chromosome. Archives of General Psychiatry, 45, 25–30.Google Scholar
  98. Rimland, B. (1971). The differentiation of childh000d psychoses: an analysis of checklists for 2,218 psychotic children. Journal ofAutism and Childhood Schizophrenia, 1, 161–174.CrossRefGoogle Scholar
  99. Ritvo, E. R., Mason-Brothers, A., Menkes, J. H., Sparkes, R. S. (1988). Assocation of autism, retinoblastoma, and reduced esterase D activity. Archives of General Psychiatry, 45, 600.Google Scholar
  100. Robinson, A., Bender, B., Borelli, J., Puck, M., Salbenblatt, J., Webber, M. L. (1982). Sex chromosomal abnormalities (SCA): a prospective and longitudinal study of newborns identified in an unbiased manner. Birth Defects: Original Article Series, 18, 7–39.Google Scholar
  101. Rutter, M., Bartak, L. (1971). Causes of infantile autism, some considerations from recent research. Journal of Autism and Childhood Schizophrenia, 20–32.Google Scholar
  102. Rutter, M. (1978). Diagnosis and definition. In M. Rutter E. Schopler (Eds.), Autism: a reappraisal ofconoepts and treatment New York: Plenum Press.Google Scholar
  103. Salbenblatt, J. A., Meyers, D. C., Bender, B. G., Linden, M. G., Robinson, A. (1987). Gross and fine motor development in 47XXY and 47XYY males. Pediatrics, 84, 240–244.Google Scholar
  104. Sherman, S. L, Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, T. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., Watson, M. (1985). Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Human Genetics 69, 289–299.Google Scholar
  105. Smalley, S. L., Asamow, R. F., Spence, A. (1988). Autism and genetics. Archives of General Psychiatry, 45, 953–961.CrossRefGoogle Scholar
  106. Sutherland, G. R. (1977). Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science, 197, 265–266.PubMedCrossRefGoogle Scholar
  107. Sutherland, G. R., Hecht, F. (1985). Fragile Sites on Human Chromosomes. New York: Oxford University Press.Google Scholar
  108. Ternies, K., Puck, M., Orfanakis, D., Robinson, A. (1977). The early child development of 17 boys with sex chromosome anomalies: a prospective study. Pediatrics, 59, 574–583.Google Scholar
  109. Tranel, D., Hall, L. E., Olson, S., Trand, N. N. (1987). Evidence for a right hemisphere developmental learning disability. Developmental Neuropsychology, 3, 113–127.CrossRefGoogle Scholar
  110. Turner, B., Jennings, A. N. (1961). Trisomy for chromosome 22. Lancet, 1, 49–50.Google Scholar
  111. Turner, G., Daniel, A., Frost, M. (1980). X-linked mental retardation, mac roorchidism and the Xq27 fragile site. Pediatrics, 96, 837–841.Google Scholar
  112. Turner, G., Opitz, J. M., Brown, T. W., Davies, K. E., Jacobs, P. A., Jenkins, E. C., Mikkelsen, M., Partington, M. W., Sutherland, G. R. (1986). Conference report: second international workshop on the fragile X and on X-linked mental retardation. American Journal of Medical Genetics, 23, 11–67.Google Scholar
  113. Varley, C. K., Holm, V. A., Eren, M. O. (1985). Cognitive and psychiatric variability in 3 brothers with fragile X syndrome. Journal of Developmental and Behavioral Pediatrics, 4 87–90.Google Scholar
  114. Venter, P. A., Op’t Hof, J., Coetzee, D. J., Van der Walt, C. A., Retief, A. E. (1984). No marker (X) syndrome in autistic children. Human Genetics, 67, 107–111.CrossRefGoogle Scholar
  115. Wahlstriim, J., Gillberg, C., Gustayson, K. H., Holmgren, G. (1986). Infantile autism and the fragile X, a Swedish multicenter study. American Journal of Medical Genetics, 23. 403–408.CrossRefGoogle Scholar
  116. Watson, M. S., Leckman, J. F., Annex, B., Breg, W. R., Boles, D., Volkmar, F. R., Dohen, D. J., Carter, C. (1984). Fragile X in a survey of 75 autistic males (letter to the editor). New England Journal of Medicine, 3. 141–462.Google Scholar
  117. Webb, T. P., Bundy, S., Thake, A., Todd, J. (1986). The frequence of the fragile X chromosome among school children in Coventry. Journal of Medical Genetics, 23 396–399.Google Scholar
  118. Wenger, S. L., Steele, M. W., Becker, D. J. (1988). Clinical consequences of deletion 1p35. Journal of Medical Genetics, 4, 263.CrossRefGoogle Scholar
  119. Wing, L. (1981). Asperger’s syndrome: a clinical account. Psychological Medicine 11, 115–129.PubMedCrossRefGoogle Scholar
  120. Wolf-Schein, E. G., Sudhalter, V., Cohen, I. L., Fisch, G. S., Hanson, D., Pfadt, A. G., Hagerman, R J., Jenkins, E. C., Brown, T. W. (1987). Speech-language and the fragile X syndrome: initial fmdings. Journal of the American Speech and Hearing Association, 29, 35–38.Google Scholar
  121. Wolf-Schein, E. G., Jenkins, E. C., Sklower, S., Cohen, I. L., Wisniewski, K. E., Brown, W. T. (1988). On the association of fragile X with autism. Journal of Autism and Developmental Disorders, 18, 457–458.CrossRefGoogle Scholar
  122. Wolff, P. H., Gardner, J., Paccia, J., Lappen, J. (1989). The greeting behavior of fragile X males. American Journal of Mental Retardation, 93, 406–411.Google Scholar
  123. Wolraich, M., Bzostek, B., Neu, R L., Gardner, L. I. (1970). Lack of chromosomeGoogle Scholar
  124. abervations in autism. New England Journal of Medicine, (letter), 38,12–31.Google Scholar
  125. Wright, H. H., Young, S. R, Edwards, J. G., Abramson, R K., Duncan, J. (1986). Fragile X syndrome in a population of autistic children. Journal of the American Academy of Child Psychiatry, 25, 641–644.CrossRefGoogle Scholar

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