Skip to main content
SpringerLink
Log in

Autism: The Phenotype in Relatives

  • Published:
Journal of Autism and Developmental Disorders Aims and scope Submit manuscript

Abstract

There is broad agreement that genetic influences are central in the development of idiopathic autism. Whether relatives manifest genetically related milder phenotypes, and if so how these relate to autism proper, has proved a more contentious issue. A review of the relevant studies indicates that relatives are sometimes affected by difficulties that appear conceptually related to autistic behaviors. These range in severity from pervasive developmental disorders to abnormalities in only one area of functioning, and possibly extend to related personality traits. Issues involved in clarifying the components of milder phenotypes and their relationship to autism are outlined.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  • Abramson, R. K., Wright, H. H., Carpenter, R., Brennan, W., Lumpuy, O., Cole, E., & Young, S. R. (1989). Elevated blood serotonin in autistic probands and their first-degree relatives. Journal of Autism and Developmental Disorders, 19, 397–407.

    Google Scholar 

  • American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: Author.

    Google Scholar 

  • Anderson, G. M., Freedman, C. X., Cohen, D. J., Volkmar, F. R., Hoder, E. L., McPhedran, P., Minderaa, R. B., Hansen, C. R., & Young, J. G. (1987). Whole blood serotonin in autistic and normal subjects. Journal of Child Psychology and Psychiatry, 28, 885–900.

    Google Scholar 

  • Asperger, H. (1944). Die ‘Autistischen Psychopathen’ im Kindesalter. Archiv fuer Psychiatrie und Nervenkrankheiten, 117, 76–136.

    Google Scholar 

  • August, G. J., Stewart, M. A., & Tsai, L. (1981). The incidence of cognitive disabilities in the siblings of autistic children. British Journal of Psychiatry, 138, 416–422.

    Google Scholar 

  • Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–77.

    Google Scholar 

  • Bailey, A., Luthert, P., Bolton, P., Le Couteur, A., Rutter, M., & Harding, B. (1993). Autism and megalencephaly [letter]. Lancet, 341, 1225–1226.

    Google Scholar 

  • Bailey, A., Luthert, P., Harding, B., Janota, I., Montgomery, M., Dean, A., Rutter, M., & Lantos, P. (1998). A clinicopathological study of autism. Brain, 121, 101–117.

    Google Scholar 

  • Bailey, A., Phillips, W., & Rutter, M. (1996). Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. Journal of Child Psychology and Psychiatry, 37, 89–126.

    Google Scholar 

  • Baird, T. D., & August, G. J. (1985). Familial heterogeneity in infantile autism. Journal of Autism and Developmental Disorders, 15, 315–321.

    Google Scholar 

  • Baron-Cohen, S. (1995). Mindblindness: An essay on autism and theory of mind. Cambridge, MA: MIT Press.

    Google Scholar 

  • Baron-Cohen, S., & Hammer, J. (1997a). Parents of children with Asperger syndrome: What is the cognitive phenotype? Journal of Cognitive Neuroscience, 9, 548–554.

    Google Scholar 

  • Baron-Cohen, S., & Hammer, J. (1997b). Is autism an extreme form of the “male brain”? Advances in Infancy Research, 11, 193–217.

    Google Scholar 

  • Baron-Cohen, S., Leslie, A., & Frith, U. (1985). Does the autistic child have a “theory of mind”? Cognition, 21, 37–46.

    Google Scholar 

  • Baron-Cohen, S., Wheelwright, S., Stott, C., Bolton, P., & Goodyear, I. (1997). Is there a link between engineering and autism? Autism, 1 101–109.

    Google Scholar 

  • Bauman, M. L. (1996). Brief report: Neuroanatomic observations of the brain in pervasive developmental disorders. Journal of Autism and Developmental Disorders, 26, 199–203.

    Google Scholar 

  • Bauman, M. L., & Kemper, T. L. (1994). Neuroanatomic observations of the brain in autism. In M. L. Bauman & T. L. Kemper (Eds.), Neurobiology of autism. Baltimore, MD: Johns Hopkins University Press.

    Google Scholar 

  • Bettelheim, B. (1967). The empty fortress: Infantile autism and the birth of the self. New York: Free Press.

    Google Scholar 

  • Bishop, D. (1989). Autism, Asperger's syndrome and semantic-pragmatic disorder: Where are the boundaries? British Journal of Disorders of Communication, 24, 103–121.

    Google Scholar 

  • Bishop, D. (1992). The underlying nature of specific language impairment. Journal of Child Psychology and Psychiatry, 33, 3–66.

    Google 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.

    Google Scholar 

  • Bolton, P. F., Pickles, A., Murphy, M., & Rutter, M. (1998). Autism, affective and other psychiatric disorders: Patterns of familial aggregation. Psychological Medicine, 28, 385–395.

    Google Scholar 

  • Bolton, P., & Rutter, M. (1990). Genetic influences in autism. International Review of Psychiatry, 2, 67–80.

    Google Scholar 

  • Boutin, P., Maziade, M., Mérette, C., Mondor, M., Bédard, C., & Thivierge, J. (1997). Family history of cognitive disabilities in first-degree relatives of autistic and mentally retarded children. Journal of Autism and Developmental Disorders, 27, 165–176.

    Google Scholar 

  • Cantwell, D. P., Baker, L., & Rutter, M. (1979). Families of autistic and dysphasic children: I. Family life and interaction patterns. Archives of General Psychiatry, 36, 682–687.

    Google Scholar 

  • Comings, D. E., & Comings, B. G. (1991). Clinical and genetic relationships between autism-pervasive developmental disorder and Tourette syndrome: A study of 19 cases. American Journal of Medical Genetics, 39, 180–191.

    Google Scholar 

  • Cook, E. (1990). Autism: Review of neurochemical investigation. Synapse, 6, 292–308.

    Google Scholar 

  • Cook, E. H. J., Charak, D. A., Arida, J., Spohn, J. A., Roizen, N. J. M., & Leventhal, B. L. (1994). Depressive and obsessive-compulsive symptoms in hyperserotonemic parents of children with autistic disorder. Psychiatry Research, 52, 25–33.

    Google Scholar 

  • Cook, E. H., Courchesne, R., Lord, C., Cox, N. J., Yan, S., Lincoln, A., Haas, R., Courchesne, E., & Leventhal, B. L. (1997). Evidence of linkage between the serotonin transporter and autistic disorder. Molecular Psychiatry, 2, 247–250.

    Google Scholar 

  • Costa, P. T., & McCrae, R. R. (1980). Influence of extraversion and neuroticism on subjective well-being: Happy and unhappy people. Journal of Personality and Social Psychology, 38, 668–678.

    Google Scholar 

  • Cox, A., Rutter, M., Newman, S., & Bartak, L. (1975). A comparative study of infantile autism and specific developmental receptive language disorder: II. Parental Characteristics. British Journal of Psychiatry, 126, 146–159.

    Google Scholar 

  • DeLong, G. R., & Dwyer, J. T. (1988). Correlation of family history with specific autistic subgroups: Asperger's syndrome and bipolar affective disease. Journal of Autism and Developmental Disorders, 18, 593–600.

    Google Scholar 

  • DeLong, R., & Nohria, C. (1994). Psychiatric family history and neurological disease in autistic spectrum disorders. Developmental Medicine and Child Neurology, 36, 441–448.

    Google Scholar 

  • Eisenberg, L., & Kanner, L. (1956). Early infantile autism, 1943–1955. American Journal of Orthopsychiatry, 26, 556–566.

    Google Scholar 

  • Filipek, P. A., Richelme, C., Kennedy, D. M., Rademacher, J., Pitcher, D. A., Zidel, S., & Caviness, V. S. (1992). Morphometric analysis of the brain in developmental language disorders and autism. Annals of Neurology, 32, 475.

    Google Scholar 

  • Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18, 297–321.

    Google Scholar 

  • Folstein, S. E., & Piven, J. (1991). Etiology of autism: Genetic influences. Pediatrics, 87, 767–773.

    Google Scholar 

  • Fombonne, E., Bolton, P., Prior, J., Jordan, H., & Rutter, M. (1997). A family study of autism: Cognitive patterns and levels in parents and siblings. Journal of Child Psychology and Psychiatry, 38, 667–683.

    Google Scholar 

  • Fombonne E., Rogé B., Claverie J., Courty S., & Frémolle J. (in press). Microcephaly and macrocephaly in autism. Journal of Autism and Developmental Disorders.

  • Freeman, B., Ritvo, E., Mason-Brothers, A., Pingree, C., Yokota, A., Jenson, W., McMahon, W., Peterson, B., Mo, A., & Schroth, P. (1989). Psychometric assessment of first-degree relatives of 62 probands in Utah. American Journal of Psychiatry, 146, 361–364.

    Google Scholar 

  • Frith, U. (1989). Autism: Explaining the enigma. Oxford, U.K.: Blackwell.

    Google Scholar 

  • Frith, U., & Happé, F. (1994). Autism: beyond “theory of mind”. Cognition, 50, 115–32.

    Google Scholar 

  • Ghaziuddin, M. (1997). Autism in Down's syndrome: Family history correlates. Journal of Intellectual Disability research 41, 87–91.

    Google Scholar 

  • Gillberg, C. (1992). Autism and autism-like conditions: Sub-classes among disorders of empathy. Journal of Child Psychology and Psychiatry, 33, 813–842.

    Google Scholar 

  • 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.

    Google Scholar 

  • Happé, F. (1994). Wechsler IQ profile and theory of mind in autism: A research note. Journal of Child Psychology and Psychiatry, 35, 1461–1471.

    Google Scholar 

  • Happé, F., & Frith, U. (1996). The neuropsychology of autism. Brain, 119, 1377–1400.

    Google Scholar 

  • Hobson, P. (1993). Autism and the development of mind. Hillsdale, NJ: Erlbaum.

    Google Scholar 

  • Hughes, C., Leboyer, M., & Bouvard, M. (1997). Executive function in parents of children with autism. Psychological Medicine, 27, 209–220.

    Google Scholar 

  • Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–250.

    Google Scholar 

  • Kanner, L., & Lesser, L. (1958). Early Infantile Autism. Pediatric Clinics of North America, 5, 711–730.

    Google Scholar 

  • Klauck, S. M., Poustka, F., Benner, A., Lesch, K.-P., & Poustka, A. (1998). Serotonin transporter (5-HTT) gene variants associated with autism? Human Molecular Genetics, 6, 2233–2238.

    Google Scholar 

  • Kolvin, I., Garside, R. F., & Kidd, J. S. H. (1971). Studies in the childhood psychoses: IV. Parental personality and attitude and childhood psychoses. British Journal of Psychiatry, 118, 403–406.

    Google Scholar 

  • Lainhart, J. E., & Folstein, S. E. (1994). Affective disorders in people with autism: A review of published cases. Journal of Autism and Developmental Disorders, 24, 587–601.

    Google Scholar 

  • Lainhart, J. E., Piven, J., Wrozek, M., Landa, R., Santangelo, S. L., Coon, H., & Folstein, S. E. (1997). Macrocephaly in children and adults with autism. Journal of the American Academy of Child and Adolescent Psychiatry, 36, 282–290.

    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.

    Google Scholar 

  • Landa, R., Wzorek, M., Piven, J., Folstein, S., & Isaacs, C. (1991). Spontaneous narrative discourse characteristics of parents of autistic individuals. Journal of Speech and Hearing Research, 34, 1339–1345.

    Google Scholar 

  • La Spada, A. R., Paulson, H. L., & Fischbeck, K. H. (1994). Trinucleotide repeat expansion in neurological disease. Annals of Neurology, 36, 814–822.

    Google Scholar 

  • Leboyer, M., Plumet, M. H., Goldblum, M. C., Perez-Diaz, F., & Marchaland, C. (1995). Verbal versus visuospatial abilities in relatives of autistic females. Developmental Neuropsychology, 11, 139–155.

    Google Scholar 

  • Le Couteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, S., Gottesman, I. I., & Rutter, M. (1996). A broader phenotype of autism: The clinical spectrum in twins. Journal of Child Psychology and Psychiatry, 37, 785–801.

    Google Scholar 

  • Lockyer, L., & Rutter, M. (1969). A five-to fifteen-year follow-up study of infantile psychosis: III. Psychological aspects. British Journal of Psychiatry, 115, 865–882.

    Google Scholar 

  • Lockyer, L., & Rutter, M. (1970). A five-to fifteen-year follow-up study of infantile psychosis: IV. Patterns of cognitive ability. British Journal of Social and Clinical Psychology, 9, 152–163.

    Google Scholar 

  • Lotter, V. (1967). Epidemiology of autistic conditions in young children. II. Some characteristics of the parents and children. Social Psychiatry, 1, 163–173.

    Google Scholar 

  • Minton, J., Campbell, M., Green, W. H., Jennings, S., & Samit, C. (1982). Cognitive assessment of siblings of autistic children. Journal of the American Academy of Child Psychiatry, 21, 256–261.

    Google Scholar 

  • Morton, J., & Frith, U. (1995). Causal modelling: A structural approach to developmental psychopathology. In D. Cichetti & D. J. Cohen (Eds.), Manual of developmental psychopathology (pp. 357–390). New York: Wiley.

    Google Scholar 

  • Murphy, M., Bolton, P., Pickles, A., Fombonne, E., Piven, J., & Rutter, M. (1998). Personality traits of the relatives of autistic probands. Manuscript in preparation.

  • Narayan, S., Moyes, B., & Wolff, S. (1990). Family characteristics of autistic children: A further report. Journal of Autism and Developmental Disorders, 20, 523–535.

    Google Scholar 

  • Ozonoff, S., Rogers, S. J., Farnham, J. M., & Pennington, B. F. (1993). Can standard measures identify subclinical markers of autism? Journal of Autism and Developmental Disorders, 23, 429–441.

    Google Scholar 

  • Pennington, B. F., & Ozonoff, S. (1996). Executive functions and developmental psychopathology. Journal of Child Psychology and Psychiatry, 37, 51–87.

    Google Scholar 

  • Pickles, A., Bolton, P., Macdonald, H., Bailey, A., Le Couteur, A., Sim, C.-H., & Rutter, M. (1995). Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: A twin and family history study of autism. American Journal of Human Genetics, 57, 717–726.

    Google Scholar 

  • Piven, J., Arndt, S., Bailey, J., & Andreasen, N. (1996). Regional brain enlargement in autism: A magnetic resonance imaging study. Journal of the American Academy of Child and Adolescent Psychiatry, 35, 530–536.

    Google Scholar 

  • Piven, J., Arndt, S., Bailey, J., Havercamp, S., Andreasen, N., & Palmer, P. (1995). An MRI study of brain size in autism. American Journal of Psychiatry, 152, 1145–1149.

    Google Scholar 

  • Piven, J., Chase, G. A., Landa, R., Wzorek, M., Gayle, J., Cloud, D., & Folstein, S. (1991a). Psychiatric disorders in the parents of autistic individuals. Journal of the American Academy of Child and Adolescent Psychiatry, 30, 471–478.

    Google Scholar 

  • Piven, J., Gayle, J., Chase, J., Fink, B., Landa, R., Wrozek, M., & Folstein, S. E. (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.

    Google Scholar 

  • Piven, J., & Palmer, P. (1997). Cognitive deficits in parents from multiple-incidence autism families. Journal of Child Psychology and Psychiatry, 38, 1011–1022.

    Google Scholar 

  • Piven, J., Palmer, P., Jacobi, D., Childress, D., & Arndt, S. (1997). Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families. American Journal of Psychiatry, 154(2), 185–190.

    Google Scholar 

  • Piven, J., Palmer, P., Landa, R., Santangelo, S., Jacobi, D., & Childress, D. (1997). Personality and language characteristics in parents from multiple-incidence autism families. American Journal of Medical Genetics (Neuropsychiatric Genetics), 74, 398–411.

    Google Scholar 

  • Piven, J., Tsai, G., Nehme, E., Coyle, J. T., & Folstein, S. E. (1991). Platelet serotonin, a possible marker for familial autism. Journal of Autism and Developmental Disorders, 21, 51–59.

    Google Scholar 

  • Piven, J., Wzorek, M., Landa, R., Lainhart, J., Bolton, P., Chase, G. A., & Folstein, S. (1994). Personality characteristics of the parents of autistic individuals. Psychological Medicine, 24, 783–795.

    Google Scholar 

  • Plumet, M-H., Goldblum, M-C., & Leboyer, M. (1995). Verbal skills in relatives of autistic females. Cortex 31, 723–733.

    Google Scholar 

  • Raine, A., Lencz, T., & Mednick, S. A. (Eds.). (1995). Schizotypal personality. Cambridge, U.K.: Cambridge University Press.

    Google Scholar 

  • Ritvo, E., Freeman, B., Pingree, C., Mason-Brothers, A., Jorde, L., Jenson, W., McMahon, W., Peterson, B., Mo, A., & Ritvo, A. (1989). The UCLA-University of Utah epidemiologic survey of autism: Prevalence. American Journal of Psychiatry, 146, 194–199.

    Google Scholar 

  • Rutter, M. (1970). Autistic children: Infancy to adulthood. Seminars in Psychiatry, 2, 435–450.

    Google Scholar 

  • Rutter, M., Bailey, A., Simonoff, E., & Pickles, A. (1997). Genetic influences and autism. In D. J. Cohen & F. Volkmar (Eds.), Handbook of autism and pervasive developmental disorders (pp. 370–387). New York: Wiley.

    Google Scholar 

  • Shah, A., & Frith, U. (1983). An islet of ability in autistic children: A research note. Journal of Child Psychology and Psychiatry, 24, 613–620.

    Google Scholar 

  • Shah, A., & Frith, U. (1993). Why do autistic individuals show superior performance on the block design test? Journal of Child Psychology and Psychiatry, 34, 1351–1364.

    Google Scholar 

  • Smalley, S. L., & Asarnow, R. F. (1990). Brief report: Cognitive subclinical markers in autism. Journal of Autism and Developmental Disorders, 20, 271–278.

    Google Scholar 

  • Smalley, S. L., Asarnow, R. F., & Spence, M. A. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.

    Google Scholar 

  • Smalley, S. L., McCracken, K., & Tanguay, P. (1995). Autism, affective disorders, and social phobia. American Journal of Medical Genetics (Neuropsychiatric Genetics), 60, 19–26.

    Google Scholar 

  • Spiker, D., Lotspeich, L., Kraemer, H. C., Hallmayer, J., McMahon, W., Petersen, P. B., Nicholas, P., Pingree, C., Wiese-Slater, S., Chiotti, C., Wong, D. L., Dimicelli, S., Ritvo, E., Cavalli-Sforza, L. L., & Ciaranello, R. D. (1994). Genetics of autism: Characteristics of affected and unaffected children from 37 multiplex families. American Journal of Medical Genetics (Neuropsychiatric Genetics), 54, 27–35.

    Google Scholar 

  • Steffenburg, S., Gillberg, C., Hellgren, L., Anderson, 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.

    Google Scholar 

  • Stevenson, R., Schroer, R., Skinner, C., Fender, D., & Simensen, R. (1997). Autism and macrocephaly [letter]. Lancet, 349, 1744–1745.

    Google Scholar 

  • Szatmari, P., Jones, M. B., Fisman, S., Tuff, L., Bartolucci, G., Mahoney, W. J., & Bryson, S. E. (1995). Parents and collateral relatives of children with pervasive developmental disorders: A family history study. American Journal of Medical Genetics (Neuropsychiatric Genetics), 60, 282–289.

    Google Scholar 

  • Szatmari, P., Jones, M. B., Holden, J., Bryson, S., Mahoney, W., Tuff, L., MacLean, J., White, B., Bartolucci, G., Schutz, C., Robinson, P., & Hoult, L. (1996). High phenotypic correlations among siblings with autism and pervasive developmental disorders. American Journal of Medical Genetics (Neuropsychiatric Genetics), 67, 354–360.

    Google Scholar 

  • Szatmari, P., Jones, M. B., Tuff, L., Bartolucci, G., Fisman, S., & Mahoney, W. (1993). Lack of cognitive impairment in first-degree relatives of children with pervasive development disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 32, 1264–1273.

    Google Scholar 

  • Tyrer, P. (Ed.). (1988). Personality assessment schedule: In personality disorders: Diagnosis, management and course. London: Butterworth.

    Google Scholar 

  • Wolff, S., Narayan, S., & Moyes, B. (1988). Personality characteristics of parents of autistic children. Journal of Child Psychology and Psychiatry, 29, 143–154.

    Google Scholar 

  • Woodhouse, W., Bailey, A., Bolton, P., Baird, G., Le Couteur, A., & Rutter, M. (1996). Head circumference and pervasive developmental disorder. Journal of Child Psychology and Psychiatry, 37, 665–671.

    Google Scholar 

  • World Health Organization. (1992). The ICD-10 classification of mental and behavioral disorders: Clinical descriptions and diagnostic guidelines. Geneva: Author.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Research Council Child Psychiatry Unit and the Social, Genetic and Developmental Psychiatry Research Centre, London, SE5 8AF, United Kingdom. MRC Child Psychiatry Unit, Institute of Psychiatry, Denmark Hill, London SE5 8AF, United Kingdom

    A. Bailey, S. Palferman & L. Heavey

  2. Academic Department of Child and Adolescent Psychiatry, Fleming Nuffield Unit, Burdon Terrace, Jesmond, Newcastle-upon-Tyne, NE2 3AE, United Kingdom

    A. Le Couteur

Authors
  1. A. Bailey
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. Palferman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. L. Heavey
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Le Couteur
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bailey, A., Palferman, S., Heavey, L. et al. Autism: The Phenotype in Relatives. J Autism Dev Disord 28, 369–392 (1998). https://doi.org/10.1023/A:1026048320785

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1026048320785

Search

Navigation