Skip to main content
Top
Gepubliceerd in: Journal of Autism and Developmental Disorders 3/2007

01-03-2007 | Original Paper

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

Auteurs: Geraldine Dawson, Annette Estes, Jeffrey Munson, Gerard Schellenberg, Raphael Bernier, Robert Abbott

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2007

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

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.
Literatuur
go back to reference 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.CrossRef 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.CrossRef
go back to reference American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: APA. American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: APA.
go back to reference 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. 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.
go back to reference 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 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
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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. 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.
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Bryson, E. (1996). Brief report: Epidemiology of autism. Journal of Autism and Developmental Disorders, 26(2), 165–167.PubMedCrossRef Bryson, E. (1996). Brief report: Epidemiology of autism. Journal of Autism and Developmental Disorders, 26(2), 165–167.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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 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
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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. 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.
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Folstein, S., Dowd, M., Mankoski, R., & Tadevosyan, O. (2003). How might genetic mechanisms operate in autism? Novartis Foundation Symposium, 251, 70–80.PubMed Folstein, S., Dowd, M., Mankoski, R., & Tadevosyan, O. (2003). How might genetic mechanisms operate in autism? Novartis Foundation Symposium, 251, 70–80.PubMed
go back to reference Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18(4), 297–321.PubMedCrossRef Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18(4), 297–321.PubMedCrossRef
go back to reference Fombonne, E. (1999). Epidemiological surveys of autism: A review. Psychological Medicine, 29, 769–786.PubMedCrossRef Fombonne, E. (1999). Epidemiological surveys of autism: A review. Psychological Medicine, 29, 769–786.PubMedCrossRef
go back to reference Fombonne, E. (2003). The prevalence of autism. Journal of the American Medical Association, 289(1), 87–89.PubMedCrossRef Fombonne, E. (2003). The prevalence of autism. Journal of the American Medical Association, 289(1), 87–89.PubMedCrossRef
go back to reference Gillberg, C., & Wing, L. (1999). Autism: Not an extremely rare disorder. Acta Psychiatrica Scandinavica, 99, 399–406.PubMed Gillberg, C., & Wing, L. (1999). Autism: Not an extremely rare disorder. Acta Psychiatrica Scandinavica, 99, 399–406.PubMed
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference Hughes, C., Leboyer, M., & Bouvard, M. (1997). Executive function in parents of children with autism. Psychological Medicine, 27, 209–220.PubMedCrossRef Hughes, C., Leboyer, M., & Bouvard, M. (1997). Executive function in parents of children with autism. Psychological Medicine, 27, 209–220.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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 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
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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 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
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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 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
go back to reference Piven, J. (2001). The broad autism phenotype: A complementary strategy for molecular genetic studies of autism. American Journal of Medical Genetics, 105, 34–35.PubMedCrossRef Piven, J. (2001). The broad autism phenotype: A complementary strategy for molecular genetic studies of autism. American Journal of Medical Genetics, 105, 34–35.PubMedCrossRef
go back to reference Piven, J., & Palmer, P. (1997). Cognitive deficits in parents from multiple-incidence autism families. Journal of Child Psychology and Psychiatry, 38(8), 1011–1021.PubMedCrossRef Piven, J., & Palmer, P. (1997). Cognitive deficits in parents from multiple-incidence autism families. Journal of Child Psychology and Psychiatry, 38(8), 1011–1021.PubMedCrossRef
go back to reference 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. 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.
go back to reference 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.CrossRef 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.CrossRef
go back to reference Raudenbush, S. W., & Bryk, A. S. (2002). Hierarchical linear models: Applications and data analysis methods. Thousand Oaks: Sage Publications. Raudenbush, S. W., & Bryk, A. S. (2002). Hierarchical linear models: Applications and data analysis methods. Thousand Oaks: Sage Publications.
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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 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
go back to reference Sattler, J. (1992). Assessment of children: Cognitive applications. La Mesa, CA: Jerome Sattler Publisher Inc. Sattler, J. (1992). Assessment of children: Cognitive applications. La Mesa, CA: Jerome Sattler Publisher Inc.
go back to reference Shrout, P., & Fleiss, J. (1979). Intraclass correlation: Uses in assessing rater reliability. Psychological Bulletin, 86, 420–428.CrossRefPubMed Shrout, P., & Fleiss, J. (1979). Intraclass correlation: Uses in assessing rater reliability. Psychological Bulletin, 86, 420–428.CrossRefPubMed
go back to reference Smalley, S., Asarnow, R., & Spence, M. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.PubMed Smalley, S., Asarnow, R., & Spence, M. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.PubMed
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
go back to reference 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.PubMedCrossRef 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.PubMedCrossRef
Metagegevens
Titel
Quantitative Assessment of Autism Symptom-related Traits in Probands and Parents: Broader Phenotype Autism Symptom Scale
Auteurs
Geraldine Dawson
Annette Estes
Jeffrey Munson
Gerard Schellenberg
Raphael Bernier
Robert Abbott
Publicatiedatum
01-03-2007
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 3/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-006-0182-2

Andere artikelen Uitgave 3/2007

Journal of Autism and Developmental Disorders 3/2007 Naar de uitgave