Journal of Genetic Counseling

, Volume 18, Issue 5, pp 507–519 | Cite as

Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors

  • Christina G. Selkirk
  • Patricia McCarthy Veach
  • Fengqin Lian
  • Lisa Schimmenti
  • Bonnie S. LeRoy
Original Research

Abstract

Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children with ASDs despite uncertainty regarding etiology. To determine how genetic counselors might best provide services, an anonymous survey was conducted with 255 parents whose children were diagnosed on the autism spectrum. Questions concerned: 1) their perceptions of ASD cause(s) and 2) recurrence risk, 3) whether perceived risk affected family planning decisions, 4) whether parents had received genetic services, and 5) how genetic counselors might assist families. The most prevalent perceived cause was genetic influences (72.6%). Most parents’ recurrence risk perceptions were inaccurately high and significantly affected family planning. Only 10% had seen a genetic professional related to an ASD. Parents provided several suggestions for genetic counselor best practices. Findings indicate the importance of genetic counselor awareness of parent perceptions in order to best help families who have children with ASDs.

Keywords

Autism spectrum disorders Parent risk perceptions Etiology Recurrence risk Family planning decisions Genetic counseling practice 

References

  1. American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders (Revised 4th ed.). Washington, DC.Google Scholar
  2. AUSM (2007). Autism Info. Autism Society of Minnesota. Website. Retrieved on 6/28/2007 from http://ausm.org/autismInfo/index.asp.
  3. The Autism Genome Project Consortium (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39, 319–328.CrossRefGoogle Scholar
  4. Bacchelli, E., & Maestrini, E. (2006). Autism spectrum disorders: Molecular genetic advances. American Journal of Medical Genetics (Seminars in Medical Genetics), 142C, 13–23.CrossRefGoogle Scholar
  5. Bailey, D. B., Skinner, D., & Sparkman, K. L. (2003). Discovering fragile X syndrome: family experiences and perceptions. Pediatrics, 111, 407–416.PubMedCrossRefGoogle Scholar
  6. Barbaresi, W. J., Katusic, S. K., & Voigt, R. G. (2006). Autism: A review of the state of the science for pediatric primary health care clinicians. Archives of Pediatrics and Adolescent Medicine, 160, 1167–1175.PubMedCrossRefGoogle Scholar
  7. Centers for Disease Control and Prevention. (2007). Prevalence of autism spectrum disorders- Autism and Developmental Disabilities Monitoring Network, 14 sites, United States. Surveillance Summaries, 2002. Morbidity and Mortality Weekly Report, 56(No. SS-1).Google Scholar
  8. Corsello, C. M. (2005). Early intervention in autism. Infants & Young Children, 18, 74–85.Google Scholar
  9. Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Philippe, K., Demyttenaere, K., Dom, R., et al. (2007). The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. European Journal of Human Genetics, 15, 453–462.PubMedCrossRefGoogle Scholar
  10. Djurdjinovic, L. (1998). Psychosocial counseling. In D.L. Baker, J.L. Schuette, & W.R. Uhlmann (eds.) A guide to genetic counseling (pp. 127-170). New York: John Wiley & Sons, Inc.Google Scholar
  11. Dosreis, S., Weiner, C. L., Johnson, L., & Newschaffer, C. J. (2006). Autism spectrum disorder screening and management practices among general pediatric providers. Developmental and Behavioral Pediatrics, 27(2), S88–S94.CrossRefGoogle Scholar
  12. Downing, C. (2005). Negotiating responsibility: Case studies of reproductive decision- making and prenatal genetic testing in families facing Huntington Disease. Journal of Genetic Counseling, 14, 219–234.PubMedCrossRefGoogle Scholar
  13. Elder, J. H. (2001). A follow-up study of beliefs held by parents of children with pervasive developmental delay. Journal of Child and Adolescent Psychiatry Nursing, 14(2), 55–60.CrossRefGoogle Scholar
  14. Evers-Kiebooms, G., Denayer, L., & Van den Berghe, H. (1990). A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis. Clinical Genetics, 37, 207-215.Google Scholar
  15. Folstein, S. E., & Rosen-Sheidley, B. (2001). Genetics of autism: complex aetiology for a heterogeneous disorder. Nature Reviews Genetics, 2, 943–955.PubMedCrossRefGoogle Scholar
  16. Fombonne, E. (2003). Epidemiological surveys of autism and other Pervasive Developmental Disorders: An update. Journal of Autism and Developmental Disorders, 33, 365–382.PubMedCrossRefGoogle Scholar
  17. Fombonne, E., Zakarian, R., Bennett, A., Meng, L., & McLean-Heywood, D. (2006). Pervasive Developmental Disorders in Montreal, Quebec, Canada: Prevalence and links with immunizations. Pediatrics, 118(1), e139–e150.PubMedCrossRefGoogle Scholar
  18. Freitag, C. M. (2007). The genetics of autistic disorders and its clinical relevance: a review of the literature. Molecular Psychiatry, 12, 2–22.PubMedCrossRefGoogle Scholar
  19. Geschwind, D. H., & Spence, S. J. (2008). Genetics of autism. Continuum Lifelong Learning Neurology, 14(2), 49–64.Google Scholar
  20. Giarelli, E., & Tulman, L. (2003). Methodological issues in the use of published cartoon data. Qualitative Health Research, 13, 945–956.PubMedCrossRefGoogle Scholar
  21. Gray, D. E. (1995). Lay conceptions of autism: Parents’ explanatory models. Medical Anthropology, 16, 99–118.PubMedGoogle Scholar
  22. Gupta, A. R., & State, M. W. (2007). Recent advances in the genetics of autism. Biological Psychiatry, 61, 429–437.PubMedCrossRefGoogle Scholar
  23. Harrington, J. W., Patrick, P. A., Edwards, K. S., & Brand, D. A. (2006a). Parental beliefs about autism. Autism, 10, 452–462.PubMedCrossRefGoogle Scholar
  24. Harrington, J. W., Rosen, L., Garnecho, A., & Patrick, P. A. (2006b). Parental perceptions and use of complementary and alternative medicine practices for children with autistic spectrum disorders in private practice. Developmental and Behavioral Pediatrics, 27(2), S156–S161.CrossRefGoogle Scholar
  25. Henneman, L., Bramsen, I., Vanos, T. A. M., Heyerman, H. G. M., van der Laag, J., van der Ploeg, H. M., et al. (2001). Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenatal Diagnosis, 21, 1–9.PubMedCrossRefGoogle Scholar
  26. Herman, G. E., Henninger, N., Ratliff-Schaub, K., Pastore, M., Fitzgerald, S., & McBride, K. L. (2007). Genetic testing in autism: How much is enough? Genetics in Medicine, 9(5), 268–274.PubMedCrossRefGoogle Scholar
  27. Hertz-Picciotto, I., Croen, L. A., Hansen, R., Jones, C. R., van de Water, J., & Pessah, I. N. (2006). The CHARGE Study: An epidemiologic investigation of genetic and environmental factors contributing to autism. Environmental Health Perspectives, 114, 1119–1125.PubMedCrossRefGoogle Scholar
  28. Honda, H., Shimizu, Y., & Rutter, M. (2005). No effect of MMR withdrawal on the incidence of autism: A total populations study. Journal of Child Psychology and Psychiatry, 46, 572–579.PubMedCrossRefGoogle Scholar
  29. Jepson, B., & Johnson, J. (2007). Changing the Course of Autism: A Scientific Approach for Parents and Physicians. Boulder: Sentient Publications.Google Scholar
  30. Jones, M. B., & Szatmari, P. (1988). Stoppage rules and genetic studies of autism. Journal of Autism and Developmental Disorders, 18(1), 31–40.PubMedCrossRefGoogle Scholar
  31. Klauck, S. M. (2006). Genetics of autism spectrum disorder. European Journal of Human Genetics, 14, 714–720.PubMedCrossRefGoogle Scholar
  32. Klitzman, R., Thorne, D., Williamson, J., Chung, W., & Marder, K. (2007). Decision- making about reproductive choices among individuals at-risk for Huntington’s Disease. Journal of Genetic Counseling, 16, 347–362.PubMedCrossRefGoogle Scholar
  33. Kolevzon, A., Gross, R., & Reichenberg, A. (2007). Prenatal and perinatal risk factors for autism. Archives of Pediatrics and Adolescent Medicine, 161, 326–333.PubMedCrossRefGoogle Scholar
  34. Larsson, H. J., Eaton, W. W., Madsen, K. M., Vestergaard, M., Olesen, A. V., Agerbo, E., et al. (2005). Risk factors for autism: Perinatal factors, parental psychiatric history, and socioeconomic status. American Journal of Epidemiology, 161, 916–925.PubMedCrossRefGoogle Scholar
  35. Lingam, R., Simmons, A., Andrews, N., Miller, E., Stowe, J., & Taylor, B. (2003). Prevalence of autism and parentally reported triggers in a north east London population. Archives of Disease in Childhood, 88, 666–670.PubMedCrossRefGoogle Scholar
  36. McCarthy Veach, P., LeRoy, B. S., & Bartels, D. M. (2007). Coming full circle: A Reciprocal-Engagement Model of genetic counseling practice. Journal of Genetic Counseling, 16, 713–728.CrossRefGoogle Scholar
  37. McCarthy Veach, P., LeRoy, B. S., & Bartels, D. M. (2003). Facilitating the genetic counseling process: A practice manual. New York: Springer/Verlag Publications.Google Scholar
  38. McMahon, W. M., Baty, B. J., & Botkin, J. (2006). Genetic counseling and ethical issues for autism. American Journal of Medical Genetics, 142C, 52–57.PubMedCrossRefGoogle Scholar
  39. Mercer, L., Creighton, S., Holden, J. J. A., & Lewis, M. E. S. (2006). Parental perspectives on the causes of an autism spectrum disorder in their children. Journal of Genetic Counseling, 15, 41–50.PubMedCrossRefGoogle Scholar
  40. Mischler, E. H., Wilford, B. S., Fost, N., Laxova, A., Reiser, C., Sauer, C. M., et al. (1998). Cystic fibrosis newborn screening: Impact on reproductive behavior and implications for genetic counseling. Pediatrics, 101(1), 44–52.CrossRefGoogle Scholar
  41. National Research Council (2001). Educating children with autism. Committee on Educational Interventions for Children with Autism. Catherine Lord & James P. McGee, eds. Division of Behavioral and Social Sciences and Education. Washington, DC: National Academy Press.Google Scholar
  42. Newschaffer, C. J., Croen, L. A., Daniels, J., Giarelli, E., Grether, J. K., Levy, S. E., et al. (2007). The epidemiology of autism spectrum disorders. Annual Review of Public Health, 28, 235–258.PubMedCrossRefGoogle Scholar
  43. Patton, M. Q. (1990). Qualitative research methods (2nd ed.). Newbury Park, CA: Sage.Google Scholar
  44. Peay, H. L., McCarthy Veach, P., Palmer, C. G. S., Rosen-Sheidley, B., Gettig, E., & Austin, J. C. (2008). Psychiatric disorders in clinical genetics I: addressing family histories of psychiatric illness. Journal of Genetic Counseling, 17, 6–17.PubMedCrossRefGoogle Scholar
  45. Rapin, I. (1997). Autism. New England Journal of Medicine, 337(2), 97–104.PubMedCrossRefGoogle Scholar
  46. Ritvo, E. R., Spence, M. A., Freeman, B. J., Brothers, A. M., Mo, A., & Marazita, M. L. (1985). Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism. American Journal of Psychiatry, 5, 51–57.Google Scholar
  47. Rosen, B., Wolpert, S., Donnelly, M., Pericak-Vance, V. A., & Folstein, S. (2000). Surveying parents of children with autism: what is their understanding of the genetic basis for this disorder? Journal of Genetic Counseling, 9, 547.Google Scholar
  48. Rutter, M. (2006). Autism: its recognitions, early diagnosis, and service implications. Developmental and Behavioral Pediatrics, 27(2), S54–S58.CrossRefGoogle Scholar
  49. Schaefer, G. B., & Mendelsohn, N. J. (2008). Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genetics in Medicine, 10, 4–12.PubMedCrossRefGoogle Scholar
  50. Simonoff, E. (1998). Genetic counseling in autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders, 28, 447–456.PubMedCrossRefGoogle Scholar
  51. Sivell, S., Elwyn, G., Gaff, C. L., Clarke, A. J., Iredale, R., Shaw, C., et al. (2008). How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: Systematic review. Journal of Genetic Counseling, 17, 30–63.PubMedCrossRefGoogle Scholar
  52. Smith, A.C.M. (1998). Patient education. In D.L. Baker, J.L. Schuette, & W.R. Uhlmann (eds.) A guide to genetic counseling (pp. 99-121). New York: John Wiley & Sons, Inc.Google Scholar
  53. Whitelaw, C., Flett, P., & Amor, D. J. (2007). Recurrence risk in autism spectrum disorder: a study of parental knowledge. Journal of Paediatrics and Child Health, 43, 752–754.PubMedCrossRefGoogle Scholar
  54. Woo, E. J., Ball, R., Bostrom, A., Shadomy, S. V., Ball, L. K., Evans, G., et al. (2004). Vaccine risk perception among reporters of autism after vaccination: Vaccine Adverse Event Reporting System 1990–2001. American Journal of Public Health, 94, 990–995.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2009

Authors and Affiliations

  • Christina G. Selkirk
    • 1
  • Patricia McCarthy Veach
    • 2
  • Fengqin Lian
    • 3
  • Lisa Schimmenti
    • 4
  • Bonnie S. LeRoy
    • 5
  1. 1.The Center for Medical GeneticsNorthShore University HealthSystemEvanstonUSA
  2. 2.Department of Educational PsychologyUniversity of MinnesotaMinneapolisUSA
  3. 3.Department of Educational PsychologyUniversity of MinnesotaMinneapolisUSA
  4. 4.Department of PediatricsUniversity of MinnesotaMinneapolisUSA
  5. 5.Department of Genetics Cell Biology, and Development, Institute of Human GeneticsUniversity of MinnesotaMinneapolisUSA

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