Skip to main content
SpringerLink
Log in

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

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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

  • American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders (Revised 4th ed.). Washington, DC.

  • AUSM (2007). Autism Info. Autism Society of Minnesota. Website. Retrieved on 6/28/2007 from http://ausm.org/autismInfo/index.asp.

  • The Autism Genome Project Consortium (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39, 319–328.

    Article  CAS  Google Scholar 

  • Bacchelli, E., & Maestrini, E. (2006). Autism spectrum disorders: Molecular genetic advances. American Journal of Medical Genetics (Seminars in Medical Genetics), 142C, 13–23.

    Article  CAS  Google Scholar 

  • Bailey, D. B., Skinner, D., & Sparkman, K. L. (2003). Discovering fragile X syndrome: family experiences and perceptions. Pediatrics, 111, 407–416.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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).

  • Corsello, C. M. (2005). Early intervention in autism. Infants & Young Children, 18, 74–85.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

  • 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.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

  • 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 

  • Folstein, S. E., & Rosen-Sheidley, B. (2001). Genetics of autism: complex aetiology for a heterogeneous disorder. Nature Reviews Genetics, 2, 943–955.

    Article  PubMed  CAS  Google Scholar 

  • Fombonne, E. (2003). Epidemiological surveys of autism and other Pervasive Developmental Disorders: An update. Journal of Autism and Developmental Disorders, 33, 365–382.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Freitag, C. M. (2007). The genetics of autistic disorders and its clinical relevance: a review of the literature. Molecular Psychiatry, 12, 2–22.

    Article  PubMed  CAS  Google Scholar 

  • Geschwind, D. H., & Spence, S. J. (2008). Genetics of autism. Continuum Lifelong Learning Neurology, 14(2), 49–64.

    Google Scholar 

  • Giarelli, E., & Tulman, L. (2003). Methodological issues in the use of published cartoon data. Qualitative Health Research, 13, 945–956.

    Article  PubMed  Google Scholar 

  • Gray, D. E. (1995). Lay conceptions of autism: Parents’ explanatory models. Medical Anthropology, 16, 99–118.

    PubMed  CAS  Google Scholar 

  • Gupta, A. R., & State, M. W. (2007). Recent advances in the genetics of autism. Biological Psychiatry, 61, 429–437.

    Article  PubMed  Google Scholar 

  • Harrington, J. W., Patrick, P. A., Edwards, K. S., & Brand, D. A. (2006a). Parental beliefs about autism. Autism, 10, 452–462.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Jepson, B., & Johnson, J. (2007). Changing the Course of Autism: A Scientific Approach for Parents and Physicians. Boulder: Sentient Publications.

    Google Scholar 

  • Jones, M. B., & Szatmari, P. (1988). Stoppage rules and genetic studies of autism. Journal of Autism and Developmental Disorders, 18(1), 31–40.

    Article  PubMed  CAS  Google Scholar 

  • Klauck, S. M. (2006). Genetics of autism spectrum disorder. European Journal of Human Genetics, 14, 714–720.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Kolevzon, A., Gross, R., & Reichenberg, A. (2007). Prenatal and perinatal risk factors for autism. Archives of Pediatrics and Adolescent Medicine, 161, 326–333.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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 

  • McMahon, W. M., Baty, B. J., & Botkin, J. (2006). Genetic counseling and ethical issues for autism. American Journal of Medical Genetics, 142C, 52–57.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

  • 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.

    Article  PubMed  Google Scholar 

  • Patton, M. Q. (1990). Qualitative research methods (2nd ed.). Newbury Park, CA: Sage.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Rapin, I. (1997). Autism. New England Journal of Medicine, 337(2), 97–104.

    Article  PubMed  CAS  Google Scholar 

  • 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 

  • 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 

  • Rutter, M. (2006). Autism: its recognitions, early diagnosis, and service implications. Developmental and Behavioral Pediatrics, 27(2), S54–S58.

    Article  Google Scholar 

  • Schaefer, G. B., & Mendelsohn, N. J. (2008). Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genetics in Medicine, 10, 4–12.

    Article  PubMed  Google Scholar 

  • Simonoff, E. (1998). Genetic counseling in autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders, 28, 447–456.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

This study was completed in partial fulfillment of the requirements for the first author’s Master of Science degree from the University of Minnesota. We would like to thank the Autism Society of Minnesota for distributing this survey invitation to their list-serve, without which we would not have received such a large response. We are deeply grateful to the respondents for taking the time to provide such thoughtful comments.

Author information

Authors and Affiliations

  1. The Center for Medical Genetics, NorthShore University HealthSystem, 1000 Central Street, Suite 620, Evanston, IL, 60201, USA

    Christina G. Selkirk

  2. Department of Educational Psychology, University of Minnesota, Minneapolis, MN, USA

    Patricia McCarthy Veach

  3. Department of Educational Psychology, University of Minnesota, Minneapolis, MN, USA

    Fengqin Lian

  4. Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA

    Lisa Schimmenti

  5. Department of Genetics Cell Biology, and Development, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA

    Bonnie S. LeRoy

Authors
  1. Christina G. Selkirk
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Patricia McCarthy Veach
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Fengqin Lian
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Lisa Schimmenti
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Bonnie S. LeRoy
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Christina G. Selkirk.

Additional information

Dr. Allyn McConkie-Rosell served as Advisory Editor for this manuscript.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Selkirk, C.G., McCarthy Veach, P., Lian, F. et al. Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors. J Genet Counsel 18, 507–519 (2009). https://doi.org/10.1007/s10897-009-9233-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-009-9233-0

Keywords

Search

Navigation