Journal of Autism and Developmental Disorders

, Volume 37, Issue 3, pp 523–536 | Cite as

Quantitative Assessment of Autism Symptom-related Traits in Probands and Parents: Broader Phenotype Autism Symptom Scale

  • Geraldine Dawson
  • Annette Estes
  • Jeffrey Munson
  • Gerard Schellenberg
  • Raphael Bernier
  • Robert Abbott
Original Paper


Autism susceptibility genes likely have effects on continuously distributed autism-related traits, yet few measures of such traits exist. The Broader Phenotype Autism Symptom Scale (BPASS), developed for use with affected children and family members, measures social motivation, social expressiveness, conversational skills, and flexibility. Based on 201 multiplex families, psychometric data on the BPASS are reported. Adequate inter-rater reliability and internal consistency were found. Parents had lower BPASS scores than affected children, after controlling for IQ. Parents and affected children showed overlapping distributions suggesting the BPASS captured variability in traits across groups. BPASS scores were not correlated with ethnicity or parent education; however, some domains were correlated with IQ. The BPASS holds promise as a quantitative phenotypic assessment for genetic studies.


Broader phenotype Genetics Quantitative traits Autism 


  1. Almasy, L., & Blangero, J. (2001). Endophenotypes as quantitative risk factors for psychiatric disease: Rationale and study design. American Journal of Medical Genetics (Neuropsychiatric Genetics), 105, 42–44.CrossRefGoogle Scholar
  2. American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: APA.Google Scholar
  3. Arvidsson, T., Danielsson, B., Forsberg, P., Gillberg, C., & Johansson, K. (1997). Autism in 3–6 year old children in a suburb of Goteborg, Sweden. Autism, 1, 163–173.Google Scholar
  4. Bailey, A., LeCouteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–77.PubMedGoogle Scholar
  5. 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(1), 89–126.PubMedCrossRefGoogle Scholar
  6. Baker, P., Piven, J., Schwartz, S., & Patil, S. (1994). Brief report: Duplication of chromosome 15q11–13 in two individuals with autistic disorder. Journal of Autism and Developmental Disorders, 24(4), 529–535.PubMedCrossRefGoogle Scholar
  7. 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.PubMedCrossRefGoogle Scholar
  8. Bishop, D. (1998). Development of the children’s communication checklist (CCC): A method for assessing qualitative aspects of communicative, impairment in children. Journal of Child Psychology and Psychiatry, 39(6), 879–891.Google Scholar
  9. Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, et al. (1994). A case–control family history study of autism. Journal of Child Psychology and Psychiatry, 35(5), 877–900.PubMedCrossRefGoogle Scholar
  10. Bryson, E. (1996). Brief report: Epidemiology of autism. Journal of Autism and Developmental Disorders, 26(2), 165–167.PubMedCrossRefGoogle Scholar
  11. Constantino, J., Gruber, C. P., Davis, S., Hayes, S., Passanante, N., Przybeck, T., et al. (2004). The factor structure of autistic traits. Journal of Child Psychology and Psychiatry, 45, 719–726.PubMedCrossRefGoogle Scholar
  12. Constantino, J., Przybeck, T., Friesen, D., & Todd, R. D. (2000). Reciprocal social behavior in children with and without pervasive developmental disorders. Journal of Developmental and Behavioral Pediatrics, 21, 2–11.PubMedGoogle Scholar
  13. Dawson, G., Webb, S., Schellenberg, G., Dager, S., Friedman, S., Aylward, E., et al. (2002). Defining the broader phenotype of autism: Genetic, brain, and behavioral perspectives. Development and Psychopathology, 14, 581–611.PubMedCrossRefGoogle Scholar
  14. Dawson, G., Webb, S. J., Wijsman, E., Schellenberg, G., Estes, A., Munson, J., et al. (2005). Neurocognitive and electrophysiological evidence of altered face processing in parents of children with autism: Implications for a model of abnormal development of social brain circuitry in autism. Development and Psychopathology (Special Issue: “Cognitive and affective neuroscience and developmental psychopathology” Cicchetti, D. and Posner, M. (Editors)), 17(3), 679–697.Google Scholar
  15. DeLong, G., & Dwyer, J. (1988). Correlation of family history with specific autistic subgroups: Asperger’s syndrome and bipolar affective disease. Journal of Autism and Developmental Disorders, 18(4), 593–600.PubMedCrossRefGoogle Scholar
  16. Folstein, S., Dowd, M., Mankoski, R., & Tadevosyan, O. (2003). How might genetic mechanisms operate in autism? Novartis Foundation Symposium, 251, 70–80.PubMedGoogle Scholar
  17. Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18(4), 297–321.PubMedCrossRefGoogle Scholar
  18. Fombonne, E. (1999). Epidemiological surveys of autism: A review. Psychological Medicine, 29, 769–786.PubMedCrossRefGoogle Scholar
  19. Fombonne, E. (2003). The prevalence of autism. Journal of the American Medical Association, 289(1), 87–89.PubMedCrossRefGoogle Scholar
  20. Gillberg, C., & Wing, L. (1999). Autism: Not an extremely rare disorder. Acta Psychiatrica Scandinavica, 99, 399–406.PubMedGoogle Scholar
  21. Happé, F., Briskman, J., & Frith, U. (2001). Exploring the cognitive phenotype of autism: Weak central conference in parents and siblings of children with autism: I. Experimental test. Journal of child psychology and psychiatry, 42, 299–307.PubMedCrossRefGoogle Scholar
  22. Hughes, C., Leboyer, M., & Bouvard, M. (1997). Executive function in parents of children with autism. Psychological Medicine, 27, 209–220.PubMedCrossRefGoogle Scholar
  23. Hughes, C., Plumet, M., & Leboyer, M. (1999). Towards a cognitive phenotype for autism: Increased prevalence of executive dysfunction and superior spatial span amongst siblings of children with autism. Journal of Child Psychology and Psychiatry, 40(5), 705–718.PubMedCrossRefGoogle Scholar
  24. Jorde, L., Hasstedt, S., Ritvo, E., Mason-Brothers, A., Freeman, B., Pingree, C., et al. (1991). Complex segregation analysis of autism. American Journal of Human Genetics, 49(5), 932–938.PubMedGoogle Scholar
  25. Jorde, L., Mason-Brothers, A., Waldmann, R., Ritvo, E., Freeman, B., Pingree, C., et al. (1990). The UCLA-University of Utah epidemiologic survey of autism: Genealogical analysis of familial aggregation. American Journal of Medical Genetics, 36(1), 85–88.PubMedCrossRefGoogle Scholar
  26. Landa, R., Folstein, S., & Isaacs, C. (1991). Spontaneous narrative-discourse performance of parents of autistic individuals. Journal of Speech and Hearing Research, 34(6), 1339–1345.PubMedGoogle Scholar
  27. Landa, R., Piven, J., Wzorek, M., Gayle, J., Chase, G., & Folstein, S. (1992). Social language use in parents of autistic individuals. Psychological Medicine, 22(1), 245–254.PubMedCrossRefGoogle Scholar
  28. Leboyer, M., Philippe, A., Bouvard, M., Guilloud-Bataille, M., Bondoux, D., Tabuteau, F., et al. (1999). Whole blood serotonin and plasma beta-endorphin in autistic probands and their first-degree relatives. Biological Psychiatry, 45(2), 158–163.PubMedCrossRefGoogle Scholar
  29. Lord, C., Risi, S., Lambrecht, L., Cook, E., Leventhal, B., DiLavore, et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30, 205–223.PubMedCrossRefGoogle Scholar
  30. Lord, C., Rutter, M., & LeCouteur, A. (1994). Autism Diagnostic Interview – Revised: A revised versions of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.PubMedCrossRefGoogle Scholar
  31. Murphy, M., Bolton, P., Pickles, A., Fombonne, E., Piven, J., & Rutter, M. (2000). Personality traits of the relatives of autistic probands. Psychological Medicine, 30(6), 1411–1424.PubMedCrossRefGoogle Scholar
  32. Narayan, S., Moyes, B., & Wolff, S. (1990). Family characteristics of autistic children: A further report. Journal of Autism and Developmental Disorders, 20(4), 523–535.PubMedCrossRefGoogle Scholar
  33. Pickles, A., Bolton, P., Macdonald, H., Bailey, A., Le Couteur, A., Sim, C., et al. (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(3), 717–726.PubMedGoogle Scholar
  34. Piven, J. (2001). The broad autism phenotype: A complementary strategy for molecular genetic studies of autism. American Journal of Medical Genetics, 105, 34–35.PubMedCrossRefGoogle Scholar
  35. Piven, J., & Palmer, P. (1997). Cognitive deficits in parents from multiple-incidence autism families. Journal of Child Psychology and Psychiatry, 38(8), 1011–1021.PubMedCrossRefGoogle Scholar
  36. Piven, J., Palmer, P., Jacobi, D., Childress, D., & Arndt, S. (1997a). Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families. American Journal of Psychiatry, 154(2), 185–190.Google Scholar
  37. Piven, J., Palmer, P., Landa, R., Santangelo, S., Jacobi, D., & Chilress, D. (1997b) Personality and language characteristics in parents for multiple-incidence autism family. American Journal of Medical Genetics, 74, 398–411.CrossRefGoogle Scholar
  38. Raudenbush, S. W., & Bryk, A. S. (2002). Hierarchical linear models: Applications and data analysis methods. Thousand Oaks: Sage Publications.Google Scholar
  39. Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, et al. (1999). A genomic screen of autism: Evidence for a multilocus etiology. American Journal of Human Genetics, 65(2), 493–507.PubMedCrossRefGoogle Scholar
  40. Ritvo, E., Jorde, L., Mason-Brothers, A., Freeman, B., Pingree, C., Jones, M., et al. (1989). The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling. American Journal of Psychiatry, 146(8), 1032–1036.PubMedGoogle Scholar
  41. Sattler, J. (1992). Assessment of children: Cognitive applications. La Mesa, CA: Jerome Sattler Publisher Inc.Google Scholar
  42. Shrout, P., & Fleiss, J. (1979). Intraclass correlation: Uses in assessing rater reliability. Psychological Bulletin, 86, 420–428.CrossRefPubMedGoogle Scholar
  43. Smalley, S., Asarnow, R., & Spence, M. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.PubMedGoogle Scholar
  44. Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I., Jakobsson, G., et al. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway, and Sweden. Journal of Child Psychology and Psychiatry, 30, 405–416.PubMedCrossRefGoogle Scholar
  45. Sung, J. U., Dawson, G., Munson, J., Estes, A., Schellenberg, J., & Wijsman, E. M. (2005). Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment. American Journal of Human Genetics, 76, 68–81.PubMedCrossRefGoogle Scholar
  46. Williams, J., Scott F., Stott C., Allison C., Bolton, P., Baron-Cohen, S., et al. (2005). The CAST (Childhood Asperger Syndrome Test): Test accuracy. Autism, 9(1), 45–68.PubMedCrossRefGoogle Scholar
  47. Wolff, S., Narayan, S., & Moyes, B. (1988). Personality characteristics of parents of autistic children: A controlled study. Journal of Child Psychology and Psychiatry, 29(2), 143–153.PubMedCrossRefGoogle Scholar
  48. Yeargin-Allsopp, M., Rice, C., Karapurkar, T., Doernberg, N., Boyle, C., & Murphy, C. (2003). Prevalence of autism in a metropolitan area. Journal of the American Medical Association, 289(1), 49–55.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Geraldine Dawson
    • 1
  • Annette Estes
    • 1
    • 2
  • Jeffrey Munson
    • 1
  • Gerard Schellenberg
    • 3
  • Raphael Bernier
    • 1
  • Robert Abbott
    • 4
  1. 1.University of Washington Autism Center and Department of PsychologyUniversity of WashingtonSeattleUSA
  2. 2.Department of Psychiatry and Behavioral SciencesUniversity of WashingtonSeattleUSA
  3. 3.Veterans Affairs Medical Center, Seattle; Departments of Medicine, Neurology and PharmacologyUniversity of WashingtonSeattleUSA
  4. 4.Department of Educational PsychologyUniversity of WashingtonSeattleUSA

Personalised recommendations