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Autism as a strongly genetic disorder: evidence from a British twin study

Published online by Cambridge University Press:  09 July 2009

A. Bailey ,
A. Le Couteur ,
I. Gottesman ,
P. Bolton ,
E. Simonoff ,
E. Yuzda  and
M. Rutter
A. Bailey*
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
A. Le Couteur
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
I. Gottesman
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
P. Bolton
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
E. Simonoff
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
E. Yuzda
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
M. Rutter
Affiliation:
MRC Child Psychiatry Unit, Institute of Psychiatry, London; Department of Psychology, University of Virginia, Charlottesville, VA, USA
*
1 Address for correspondence: Dr A. Bailey, MRC Child Psychiatry Unit, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF.
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Synopsis

Two previous epidemiological studies of autistic twins suggested that autism was predominantly genetically determined, although the findings with regard to a broader phenotype of cognitive, and possibly social, abnormalities were contradictory. Obstetric and perinatal hazards were also invoked as environmentally determined aetiological factors. The first British twin sample has been re-examined and a second total population sample of autistic twins recruited. In the combined sample 60% of monozygotic (MZ) pairs were concordant for autism versus no dizygotic (DZ) pairs; 92% of MZ pairs were concordant for a broader spectrum of related cognitive or social abnormalities versus 10% of DZ pairs. The findings indicate that autism is under a high degree of genetic control and suggest the involvement of multiple genetic loci. Obstetric hazards usually appear to be consequences of genetically influenced abnormal development, rather than independent aetiological factors. Few new cases had possible medical aetiologies, refuting claims that recognized disorders are common aetiological influences.

Information

Type
Research Article
Information
Psychological Medicine , Volume 25 , Issue 1 , January 1995 , pp. 63 - 77
Copyright
Copyright © Cambridge University Press 1995

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References

Bailey, A., Luthert, P., Bolton, P., Le Couteur, A., Rutter, M. & Harding, B. (1993 a). Autism is associated with megalencephaly (letter). Lancet 341, 1225–1226.CrossRefGoogle Scholar
Bailey, A., Bolton, P., Butler, L., Le Couteur, A., Murphy, M., Scott, S., Webb, T. & Rutter, M. (1993 b). Prevalence of the Fragile X anomaly amongst autistic twins and singletons. Journal of Child Psychology and Psychiatry 34, 673–688.CrossRefGoogle ScholarPubMed
Bailey, A., Le Couteur, A., Pickles, A. & Rutter, M. (1993 c). British twin study of autism.Paper presented at Second World Congress on Psychiatric Genetics,New Orleans. Google Scholar
Baird, T. D. & August, G. J. (1985). Familial heterogeneity in infantile autism. Journal of Autism and Developmental Disorders 15, 315–321.CrossRefGoogle ScholarPubMed
Bartak, L., Rutter, M. & Cox, A. (1975). A comparative study of infantile autism and specific developmental language disorder: 1. The children. British Journal of Psychiatry 126, 127–145.CrossRefGoogle Scholar
Bauman, M. (1991). Microscopic neuroanatomic abnormalities in autism. Pediatrics 87, (suppl.), 791–796.CrossRefGoogle ScholarPubMed
Bentler, P. M. (1989). EQS Structural Equations Program Manual. BMDP Statistical Software: Los Angeles.Google Scholar
Bolton, P. & Rutter, M. (1990). Genetic influences in autism. International Review of Psychiatry 2, 67–80.CrossRefGoogle Scholar
Bolton, P., MacDonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A. & Rutter, M. (1994). A case—control family history study of autism. Journal of Child Psychology and Psychiatry 35, 877–900.CrossRefGoogle ScholarPubMed
Bushby, K. M. D., Cole, T., Matthews, J. N. S. & Goodship, J. A. (1992). Centiles for adult head circumference. Archives of Disease in Childhood 67, 1286–1287.CrossRefGoogle ScholarPubMed
Deykin, E. & MacMahon, B. (1980). Pregnancy, delivery and neonatal complications among autistic children. American Journal of Disorders of Childhood 134, 860–864.Google ScholarPubMed
Dunn, L. M., Dunn, L. M., Whetton, C. & Pintillie, D. (1982). British Picture Vocabulary Scale (Manual for long and short forms). NFER Publishers: Windsor.Google Scholar
Emery, A. E. H. (1986). Methodology in Medical Genetics. Churchill Livingstone: Edinburgh.Google Scholar
Falconer, D. S. (1965). The inheritance of liability to certain diseases, estimated from the incidence among relatives. Annals of Human Genetics 29, 51–77.CrossRefGoogle Scholar
Falconer, D. S. (1981). Introduction to Quantitative Genetics. Longman: London.Google Scholar
Finegan, J. & Quarrington, B. (1979). Pre-, peri- and neonatal factors and infantile autism. Journal of Child Psychology and Psychiatry 20, 119–128.CrossRefGoogle ScholarPubMed
Folstein, S. & Rutter, M. (1977 a). Genetic influences and infantile autism. Nature 265, 726–728.CrossRefGoogle ScholarPubMed
Folstein, S. & Rutter, M. (1977 b). Infantile autism: a genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry 18, 291–321.CrossRefGoogle ScholarPubMed
Gillberg, C. (1980). Maternal age and infantile autism. Journal of Autism and Developmental Disorders 10, 293–297.CrossRefGoogle ScholarPubMed
Gillberg, C. (1992). Autism and autistic-like conditions. Journal of Child Psychology and Psychiatry 33, 813–842.CrossRefGoogle ScholarPubMed
Gillberg, C. & Steffenburg, S. (1987). Outcome and prognostic factors in infantile autism and similar conditions: a population-based study of 46 cases followed through puberty. Journal of Autism and Developmental Disorders 17, 273–287.CrossRefGoogle ScholarPubMed
Gillberg, C., Gillberg, I. & Steffenburg, S. (1990). Reduced optimality in the pre-, peri- and neonatal periods is not equivalent to severe peri- or neonatal risk: a rejoinder to Goodman's technical note. Journal of Child Psychology and Psychiatry 31, 813–815.CrossRefGoogle ScholarPubMed
Gillberg, C., Steffenburg, S. & Schaumann, H. (1991). Is autism more common now than ten years ago? British Journal of Psychiatry 158, 403–409.CrossRefGoogle ScholarPubMed
Gillberg, C., Gillberg, I. C. & Steffenburg, S. (1992). Siblings and parents of children with autism: a controlled population-based study. Developmental Medicine and Child Neurology 34, 389–398.CrossRefGoogle ScholarPubMed
Goodman, R. (1991). Growing together and growing apart: the non-genetic forces on children in the same family. In The Genetics of Mental Illness (ed. McGuffin, P. and Murray, R.), pp. 217–244. Butterworth-Heinemann: Oxford.Google Scholar
Hanson, D. R. & Gottesman, I. I. (1976). The genetics, if any, of infantile autism and childhood schizophrenia. Journal of Autism and Childhood Schizophrenia 6, 3, 209–234.CrossRefGoogle ScholarPubMed
Huntley, M. (1987). Reynell Developmental Language Scales (2nd revision) NFER, Nelson Publishers: Windsor.Google Scholar
Landa, R., Piven, J., Wzorek, M. M., Gayle, J. O., Chase, G. A. & Folstein, S. E. (1992). Social language use in parents of autistic individuals. Psychological Medicine 22, 245–254.CrossRefGoogle ScholarPubMed
Le Couteur, A., Rutter, M., Summers, D. & Butler, L. (1988). Fragile X in female autistic twins. Journal of Autism and Developmental Disorders 18, 458–460.CrossRefGoogle ScholarPubMed
Le Couteur, A., Rutter, M., Lord, C., Rios, P., Robertson, S., Holdgrafer, M. & McLennan, J. (1989). Autism Diagnostic Interview: a standardized investigator-based instrument. Journal of Autism and Developmental Disorders 19, 363–387.CrossRefGoogle ScholarPubMed
Le Couteur, A., Bailey, A., Goode, S., Robertson, S., Gottesman, I. I., Schmidt, D. & Rutter, M. (1995). A broader phenotype of autism: the clinical spectrum in twins. (In preparation.)Google Scholar
Links, P., Stockwell, M., Abichandani, F. & Simeon, J. (1980). Minor physical anomalies in childhood autism. Part I. Their relationship to pre- and perinatal complications. Journal of Autism and Developmental Disorders 10, 273–285.CrossRefGoogle ScholarPubMed
Little, J. & Bryan, E. M. (1988). Congenital anomalies. In Twinning and Twins (ed. MacGillivray, I., Campbell, D. M. and Thompson, B.), pp. 207–240. John Wiley: Chichester.Google Scholar
Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L. & Schopler, E. (1989). Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders 19, 185–212.CrossRefGoogle ScholarPubMed
MacGillivray, I., Samphier, M. & Little, J. (1988). Factors affecting twinning. In Twinning and Twins (ed. MacGillivray, I., Campbell, D.M. and Thompson, B.), pp. 67–97. John Wiley: Chichester.Google Scholar
Piven, J., Gayle, J., Chase, G. A., Fink, B., Landa, R., Wzorek, M. M. & Folstein, S. (1990). A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. Journal of the American Academy of Child and Adolescent Psychiatry 29, 177–183.CrossRefGoogle ScholarPubMed
Piven, J., Behme, E., Simon, J., Barta, P., Pearlson, G. & Folstein, S. (1992). Magnetic resonance imaging in autism: measurement of the cerebellum, pons and fourth ventricle. Biological Psychiatry 31, 491–504.CrossRefGoogle ScholarPubMed
Raven, J. C. & Court, J. H. (1982). Manual for Raven's Progressive Matrices and Vocabulary Scales: Research and References. H. K. Louis & Co. Ltd.: London.Google Scholar
Reich, T., James, J. W. & Morris, C. A. (1972). The use of multiple thresholds in determining the mode of transmission of semi continuous traits. Annals of Human Genetics 36, 163–186.CrossRefGoogle ScholarPubMed
Risch, N. (1990). Linkage strategies for genetically complex traits. 1. Multilocus models. American Journal of Human Genetics 46, 222–228.Google Scholar
Rutter, M. (1970). Autistic children: infancy to adulthood. Seminars in Psychiatry 2, 435–450.Google Scholar
Rutter, M., Bailey, A., Bolton, P. & Le Couteur, A. (1993 a). Autism: syndrome definition and possible genetic mechanisms. In Nature, Nurture and Psychology (ed. Plomin, R. and McClearn, G. E.), pp. 269–284. American Psychological Association Press: Washington, DC.CrossRefGoogle Scholar
Rutter, M., Simonoff, E. & Silberg, J. (1993 b). How informative are twin studies of child psychopathology. In Twins as A Tool of Behavioral Genetics. (ed. Bouchard, T. J. and Propping, P.), pp. 180–194. John Wiley: Chichester.Google Scholar
Rutter, M., Bailey, A., Bolton, P. & Le Couteur, A. (1994) Autism and known medical conditions: myth and substance. Journal of Child Psychology and Psychiatry 35, 311–322.CrossRefGoogle ScholarPubMed
Smalley, S., Asarnow, R. & Spence, M. (1988). Autism and genetics: a decade of research. Archives of General Psychiatry 45, 953–961.CrossRefGoogle ScholarPubMed
Smith, D. W. & Jones, K. L. (1988). Smith's Recognizable Patterns of Human Malformation (ed. 4). W. B. Saunders: Philadelphia.Google Scholar
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I., Jakobsson, G. & Bohman, M. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry 30, 405–416.CrossRefGoogle ScholarPubMed
Stutsman, R. (1931). Mental Measurement of Preschool Children. World Book: Yonkers-on-Hudson, N.Y.Google Scholar
Torrey, E., Hersh, S. & McCabe, K. (1975). Early childhood psychosis and bleeding during pregnancy: a prospective study of gravid women and their offspring. Journal of Autism and Childhood Schizophrenia 5, 287–297.CrossRefGoogle ScholarPubMed
Waldrop, M. & Halverson, C. Jr.. (1971). Minor physical anomalies and hyperactive behavior in young children. In Exceptional Infant: Studies in Abnormalities, Vol. 2 (ed. Hellmuth, J.), pp. 343–381. Brunner/Mazel: New York.Google Scholar
Wechsler, D. (1974). Manual for the Wechsler Intelligence Scale for Children – Revised. The Psychological Corporation: New York.Google Scholar
Wechsler, D. (1981). Manual for the Wechsler Adult Intelligence Scale – Revised. The Psychological Corporation: New York.Google Scholar
Williams, R., Hauser, S., Purpura, D., Delong, G. & Swisher, C. (1980). Autism and mental retardation. Archives of Neurology 37, 749–753.CrossRefGoogle ScholarPubMed
Wing, L. & Attwood, A. (1987). Syndromes of autism and atypical development. In Handbook of Autism and Pervasive Developmental Disorders (ed. Cohen, D. J., Donellan, A. and Paul, R.), pp. 3–19. John Wiley: New York.Google Scholar
Wing, L., Yeates, S. R., Brierley, L. M. & Gould, J. (1976). The prevalence of early childhood autism: Comparison of administrative and epidemiological studies. Psychological Medicine 6, 89–100.CrossRefGoogle ScholarPubMed
Wolff, S., Narayan, S. & Moyes, B. (1988). Personality characteristics of parents of autistic children. Journal of Child Psychology and Psychiatry and Allied Disciplines 29, 143–154.CrossRefGoogle ScholarPubMed
Woodhouse, W., Bailey, A., Bolton, B., Baird, G., Le Couteur, A. & Rutter, M. (1995). Head circumference and pervasive developmental disorder. Journal of Child Psychology and Psychiatry (submitted).Google Scholar
World Health Organization (1992). ICD-10 Classification of Mental and Behavioural Disorders: Clinical Descriptions and Diagnostic Guidelines. World Health Organisation: Geneva.Google Scholar