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

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Abstract

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.

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References

  • 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.

    Article  Google Scholar 

  • American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: APA.

    Google Scholar 

  • 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 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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 

  • 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.

    Article  PubMed  Google Scholar 

  • Bryson, E. (1996). Brief report: Epidemiology of autism. Journal of Autism and Developmental Disorders, 26(2), 165–167.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

  • 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.

    Article  PubMed  Google Scholar 

  • Folstein, S., Dowd, M., Mankoski, R., & Tadevosyan, O. (2003). How might genetic mechanisms operate in autism? Novartis Foundation Symposium, 251, 70–80.

    PubMed  Google Scholar 

  • Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18(4), 297–321.

    Article  PubMed  Google Scholar 

  • Fombonne, E. (1999). Epidemiological surveys of autism: A review. Psychological Medicine, 29, 769–786.

    Article  PubMed  Google Scholar 

  • Fombonne, E. (2003). The prevalence of autism. Journal of the American Medical Association, 289(1), 87–89.

    Article  PubMed  Google Scholar 

  • Gillberg, C., & Wing, L. (1999). Autism: Not an extremely rare disorder. Acta Psychiatrica Scandinavica, 99, 399–406.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Hughes, C., Leboyer, M., & Bouvard, M. (1997). Executive function in parents of children with autism. Psychological Medicine, 27, 209–220.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Piven, J. (2001). The broad autism phenotype: A complementary strategy for molecular genetic studies of autism. American Journal of Medical Genetics, 105, 34–35.

    Article  PubMed  Google Scholar 

  • Piven, J., & Palmer, P. (1997). Cognitive deficits in parents from multiple-incidence autism families. Journal of Child Psychology and Psychiatry, 38(8), 1011–1021.

    Article  PubMed  Google Scholar 

  • 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 

  • 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.

    Article  Google Scholar 

  • Raudenbush, S. W., & Bryk, A. S. (2002). Hierarchical linear models: Applications and data analysis methods. Thousand Oaks: Sage Publications.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Sattler, J. (1992). Assessment of children: Cognitive applications. La Mesa, CA: Jerome Sattler Publisher Inc.

    Google Scholar 

  • Shrout, P., & Fleiss, J. (1979). Intraclass correlation: Uses in assessing rater reliability. Psychological Bulletin, 86, 420–428.

    Article  PubMed  Google Scholar 

  • Smalley, S., Asarnow, R., & Spence, M. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

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Acknowledgments

This work was funded by a grant from the National Institute of Child Health and Human Development (U19HD34565), which is part of the NICHD/NIDCD Collaborative Program of Excellence in Autism. We gratefully acknowledge the families who participated in this study, and Julie Osterling who helped developed the BPASS.

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Correspondence to Geraldine Dawson.

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Dawson, G., Estes, A., Munson, J. et al. Quantitative Assessment of Autism Symptom-related Traits in Probands and Parents: Broader Phenotype Autism Symptom Scale. J Autism Dev Disord 37, 523–536 (2007). https://doi.org/10.1007/s10803-006-0182-2

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