Abstract
The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD.
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References
Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics, 9(5), 341–355.
Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The autism-spectrum quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31(1), 5–17.
Bernier, R., Gerdts, J., Munson, J., Dawson, G., & Estes, A. (2011). Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. Autism Research, [Epub ahead of print].
Burmeister, M., McInnis, M. G., & Zollner, S. (2008). Psychiatric genetics: Progress amid controversy. Nature Reviews Genetics, 9(7), 527–540.
Centers for Disease Control (CDC). (2009). Prevalence of autism spectrum disorders: Autism and developmental disabilities monitoring network, United States, 2006. Morbidity and Mortality Weekly Report Surveillance Summaries, 58(10), 1–20.
Constantino, J. N., & Gruber, C. P. (2005). The social responsiveness scale manual. Los Angeles: Western Psychological Services.
Dawson, G., Estes, A., Munson, J., Schellenberg, G., Bernier, R., & Abbott, R. (2007). Quantitative assessment of autism symptom-related traits in probands and parents: Broader phenotype autism symptom scale. Journal of Autism and Developmental Disorders, 37(3), 523–536.
Fischbach, G. D., & Lord, C. (2010). The simons simplex collection: A resource for identification of autism genetic risk factors. Neuron, 68(2), 192–195.
Hurley, R. S., Losh, M., Parlier, M., Reznick, J. S., & Piven, J. (2007). The broad autism phenotype questionnaire. Journal of Autism and Developmental Disorders, 37(9), 1679–1690.
Hyler, S. E., Rieder, R. O., Williams, J. B., Spitzer, R. L., Lyons, M., & Hendler, J. (1989). A comparison of clinical and self-report diagnoses of DSM-III personality disorders in 552 patients. Comprehensive Psychiatry, 30(2), 170–178.
IMGSAC. (2000). Family history interview: Interviewer impressions. Unpublished interviewer impressions for autism.
Lainhart, J. E., Ozonoff, S., Coon, H., Krasny, L., Dinh, E., Nice, J., et al. (2002). Autism, regression, and the broader autism phenotype. American Journal of Medical Genetics, 113(3), 231–237.
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(1), 245–254.
Losh, M., Childress, D., Lam, K., & Piven, J. (2008). Defining key features of the broad autism phenotype: A comparison across parents of multiple- and single-incidence autism families. American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 147B(4), 424–433.
Losh, M., & Piven, J. (2007). Social-cognition and the broad autism phenotype: Identifying genetically meaningful phenotypes. Journal of Child Psychology and Psychiatry, 48(1), 105–112.
Murphy, M., Bolton, P. F., Pickles, A., Fombonne, E., Piven, J., & Rutter, M. (2000). Personality traits of the relatives of autistic probands. Psychological Medicine, 30(6), 1411–1424.
Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A baby siblings research consortium study. Pediatrics. doi:10.1542/peds.2010-2825.
Piven, J. (2001). The broad autism phenotype: A complementary strategy for molecular genetic studies of autism. American Journal of Medical Genetics, 105(1), 34–35.
Piven, J., Gayle, J., Chase, G. A., Fink, B., Landa, R., Wzorek, M. M., et al. (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(2), 177–183.
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, 74(4), 398–411.
Piven, J., Wzorek, M., Landa, R., Lainhart, J., Bolton, P., Chase, G. A., et al. (1994). Personality characteristics of the parents of autistic individuals. Psychological Medicine, 24(3), 783–795.
Rogers, S. J. (2009). What are infant siblings teaching us about autism in infancy? Autism Research, 2(3), 125–137.
Seidman, I., Yirmiya, N., Milshtein, S., Ebstein, R. P., & Levi, S. (2011). The broad autism phenotype questionnaire: Mothers versus fathers of children with an autism spectrum disorder. Journal of Autism and Developmental Disorders, [Epub ahead of print].
Sucksmith, E., Roth, I., & Hoekstra, R. A. (2011). Autistic traits below the clinical threshold: Re-examining the broader autism phenotype in the 21st century. Neuropsychology Review, 21(4), 360–389.
Virkud, Y. V., Todd, R. D., Abbacchi, A. M., Zhang, Y., & Constantino, J. N. (2009). Familial aggregation of quantitative autistic traits in multiplex versus simplex autism. American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 150B(3), 328–334.
Yirmiya, N., & Charman, T. (2010). The prodrome of autism: Early behavioral and biological signs, regression, peri- and post-natal development and genetics. Journal of Child Psychology and Psychiatry, 51(4), 432–458.
Acknowledgments
This study was supported by the Simons Foundation. We are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators (A. Beaudet, A. Klin, B. Peterson, C. Lord, C. Martin, C. Saulnier, C. Walsh, D. Geschwind, D. Grice, D. Ledbetter, D. Martin, E. Cook, E. Fombonne, E. Wijsman, J. Miles, J. Constantino, J. Piggot, J. Sutcliffe, M. State, O. Ousley, R. Bernier, R. Maxim, W. Stone). We appreciate obtaining access to phenotypic data on SFARI Base, https://ordering.base.sfari.org/*browse_collection/archive[sfari_collection_v6]/ui:view().
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Davidson, J., Goin-Kochel, R.P., Green-Snyder, L.A. et al. Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection. J Autism Dev Disord 44, 2392–2399 (2014). https://doi.org/10.1007/s10803-012-1492-1
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DOI: https://doi.org/10.1007/s10803-012-1492-1