Skip to main content

Advertisement

SpringerLink
Log in

Genetic advances in autism hinge on the method of measuring symptoms

  • Published:
Current Psychiatry Reports Aims and scope Submit manuscript

Abstract

Advances in genotyping and related technologies and the study of families with two or more autistic siblings have allowed the reporting of various genetic linkage and candidate gene association studies for autism. Despite this significant research effort, there still is no general agreement on the role of particular genes that predispose to the risk of autism. One source of general debate is whether core symptoms studied in research on the heredity of autism include single or multiple independent genetic domains. In this review, it is argued that failure to control for co-existing dimensions of psychopathology and lack of assessment of parents may lead to misinterpretation of genetic findings from pedigrees involving multiple affected family members.

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 and Recommended Reading

  1. APA: DSM-IV: Diagnostic and Statistical Manual of Mental Disorders, 4th Edition. American Psychiatric Association; 2000.

  2. Veenstra-VanderWeele J, Cook Jr EH: Molecular genetics of autism spectrum disorder. Mol Psychiatry 2004, 9:819–832. This is one of two recent reviews that give an alternative perspective on current genetic results.

    Article  PubMed  CAS  Google Scholar 

  3. Muhle R, Trentacoste SV, Rapin I: The genetics of autism. Pediatrics 2004, 113:e472-e486. This is one of two recent reviews, which highlight advances in genetic studies of autism in a comprehensive fashion.

    Article  PubMed  Google Scholar 

  4. IMGSAC: A genome wide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001, 69:570–581.

    Article  Google Scholar 

  5. Auranen M, Nieminen T, Majuri S, et al.: Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families. Mol Psychiatry 2000, 5:320–322.

    Article  PubMed  CAS  Google Scholar 

  6. Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised (ADI-R): a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994, 24:659–685.

    Article  PubMed  CAS  Google Scholar 

  7. Lord C, Rutter M, Goode S, et al.: Autism diagnostic observation scale: a standardized observation of communicative and social behavior. J Autism Dev Disord 1989, 19:185–212.

    Article  PubMed  CAS  Google Scholar 

  8. Lord C, Risi S, Lambrecht L, et al.: The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000, 30:205–223.

    Article  PubMed  CAS  Google Scholar 

  9. Buxbaum JD, Silverman JM, Smith CJ, et al.: Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 2001, 68:1514–1520.

    Article  PubMed  CAS  Google Scholar 

  10. Shao Y, Raiford KL, Wolpert CM, et al.: Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 2002, 70:1058–1061.

    Article  PubMed  CAS  Google Scholar 

  11. Bradford Y, Haines J, Hutcheson H, et al.: Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 2001, 105:539–547.

    Article  PubMed  CAS  Google Scholar 

  12. Shao Y, Cuccaro ML, Hauser ER, et al.: Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 2003, 72:539–548.

    Article  PubMed  CAS  Google Scholar 

  13. Kolevzon A, Smith CJ, Schneidler J, et al.: Familial symptom domains in monozygotic siblings with autism. Am J Med Genet 2004, 129B:76–81.

    Article  Google Scholar 

  14. Silverman JM, Smith CJ, Schneidler J, et al.: Symptom domains in autism and related conditions: Evidence for familiality. Am J Med Genet 2002, 114:64–73.

    Article  PubMed  Google Scholar 

  15. Spiker D, Lotspeich LJ, Dimiceli S, et al.: Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient. Am J Med Genet 2002, 114:129–136.

    Article  PubMed  Google Scholar 

  16. Sung YJ, Dawson G, Munson J, et al.: Genetic investigation of quantitative traits related to autism: Use of multivariate polygenic models with ascertainment adjustment. Am J Hum Genet 2005, 76:68–81.

    Article  PubMed  CAS  Google Scholar 

  17. Bolton P, MacDonald H, Pickles A, et al.: A case-control family history study of autism. J Child Psychol Psychiatry 1994, 35:877–900.

    Article  PubMed  CAS  Google Scholar 

  18. Constantino JN, Todd RD: Autistic traits in the general population: A twin study. Arch Gen Psychiatry 2003, 60:524–530. This paper highlights sex-based differences in the heritability of subsyndromal autistic traits.

    Article  PubMed  Google Scholar 

  19. Constantino JN: Intergenerational transmission of autistic traits: evidence for assortative mating. Biol Psychiatry 2004, In press.

  20. Constantino JN, Gruber CP, Davis SA, et al.: The factor structure of autistic traits. J Child Psychol Psychiatry 2004, 45:719–726.

    Article  PubMed  Google Scholar 

  21. Constantino JN, Todd RD: The genetic structure of reciprocal social behavior. Am J Psychiatry 2000, 157:2043–2045.

    Article  PubMed  CAS  Google Scholar 

  22. Achenbach TM: Empirically Based Taxonomy: How to Use Syndromes and Profile Types Derived from the CBCL/4-18, TRF, and YSR. Burlington, VT: University of Vermont, Department of Psychiatry; 1993.

    Google Scholar 

  23. Constantino JN, Hudziak JJ, Todd RD: Deficits in reciprocal social behavior in male twins: evidence for a genetically independent domain of psychopathology. J Am Acad Child Adolesc Psychiatry 2003, 42:458–467. This paper demonstrates the interaction of different heritable traits in determining symptom severity within individuals.

    PubMed  Google Scholar 

  24. Smalley SL, Loo SK, Yang MH, Cantor RM: Toward localizing genes underlying cerebral asymmetry and mental health. Am J Med Genet 2004, (Section B, Neuropsychiatric Genetics); In press. Though this paper comes to different conclusions than this review, the authors’ demonstrate the overlap of genetic linkage findings for autism, ADHD, and dyslexia.

Download references

Author information

Authors and Affiliations

  1. Departments of Psychiatry and Genetics, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8134, 63110, St. Louis, MO, USA

    Richard D. Todd PhD, MD

Authors
  1. Richard D. Todd PhD, MD
    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

Todd, R.D. Genetic advances in autism hinge on the method of measuring symptoms. Curr Psychiatry Rep 7, 133–137 (2005). https://doi.org/10.1007/s11920-005-0010-y

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11920-005-0010-y

Keywords

Search

Navigation