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References
Alsobrook, II J. P., Zohar, A. H., Leboyer, M., Chabane, N., Ebstein, R. P., & Paul, D. L. (in press). Association between the COMT locus and obsessive compulsive disorder in females but not males. Neuropsychiatric Genetics.
American Psychiatric Association. (1994). Diagnostic and Statistical Manual of Mental Disorders, 4th ed. Washington, DC: American Psychiatric Association.
Anderson, G. M., Horne, W. C., Chatterjee, D., & Cohen, D. J. (1990). The hyperserotonemia of autism. Annals of the New York Academy of Sciences, 600, 331–340, discussion 341-2.
August, G. J., Stewart, M. A., & Tsai, L. (1981). The incidence of cognitive disabilities in siblings of autistic children. British Journal of Psychiatry, 138, 416–422.
Bailey, A., LeCouteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–78.
Balottin, U., Bejor, M., Cecchini, A., Martelli, A., Palazzi, S., & Lanzi, G. (1989). Infantile autism and computerized tomography brain-scan findings: Specific versus nonspecific abnormalities. Journal of Autism and Developmental Disorders, 19, 109–117.
Barrett, S., Beck, J. C., Bernier, R., Bisson, E., Braun, T. A., Casavant, T. L., et al. (1999). An autosomal genomic screen for autism. American Journal of Medical Genetics, 88(6), 609–615.
Bayley, N. (1993). Bayley Scales of Infant Development, 2nd ed. The Psychological Corporation. San Antonio: Harcourt Brace.
Benjamin, J., Li, L., Patterson, C., Greenberg, B. D., Murphy, D. L., & Hamer, D. H. (1996). Population and familial association between the D4 dopamine receptor gene and measures of Novelty Seeking. Nature Genetics, 12(1), 81–84.
Bolton, P., Macdonald, H., Pickles, A., Rios, P., & Goode, S. (1994). A case-control family history study of autism. Journal of Child Psychology and Psychiatry, 35(5), 877–900.
Cantor, D. S., Thatcher, R. W., Hrybyk, M., & Kaye, H. (1986). Computerized EEG analyses of autistic children. Journal of Autism and Developmental Disorders, 16, 169–187.
Cases, O., Vitalis, T., Seif, I., De Maeyer, E., Sotelo, C., & Gaspar, P. (1996). Lack of barrels in the somatosensory cortex of monoamine oxidase A-deficient mice: Role of a serotonin excess during the critical period. Neuron, 16(2), 297–307.
Cattell, P. (1960). The Measurement of Intelligence of Infants and Young Children-Revised. New York: Psychological Corporation.
Coleman, P. D., Romano, J., Laphan, L., & Simon, W. (1985). Cell counts in cerebral cortex of an autistic patient. Journal of Autism and Developmental Disorders, 15, 55–76.
Cook, E. H., Jr., Courchesne, R., Lord, C., Cox, N. J., Yan, S., Lincoln, A., et al. (1997). Evidence of linkage between the serotonin transporter and autistic disorder. Molecular Psychiatry, 2,(3), 247–250.
Cook, E. H., Jr., Leventhal, B. L., & Freedman, D. X. (1988). Free serotonin in plasma: autistic children and their first-degree relatives. Biological Psychiatry, 24(4), 488–491.
Cook, E. H., Jr., Leventhal, B. L., Heller, W., Metz, J., Wainwright, M., & Freedman, D. X. (1990). Autistic children and their first-degree relatives: Relationships between serotonin and norepinephrine levels and intelligence. Journal of Neuropsychiatry and Clinical Neuroscience, 2(3), 268–274.
Creak, M., & Ini, S. (1960). Families of psychotic children. Journal of Child Psychology and Psychiatry, 1, 156–175.
de Villard, R., Flachaire, E., Thoulon, J. M., Dalery, J., Maillet, J., Chauvin, C., et al. (1986). Platelet serotonin concentrations in autistic children and members of their families. Encephale, 12(4), 139–142.
DeMyer, M. K., Hingtgen, J. L., & Jackson, R. K. (1981). Infantile autism reviewed: A decade of research. Schizophrenia Bulletin, 7, 390–453.
Deykin, E., & MacMahon, B. (1979). The incidence of seizures among children with autistic symptoms. American Journal of Psychiatry, 136, 1310–1312.
Ebstein, R. P., Novick, O., Umansky, R., Priel, B., Osher, Y., Blaine, D., et al. (1996). Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty Seeking. Nature Genetics, 12(1), 78–80.
Ewens, W. J., & Spielman, R. S. (1995), The transmission/disequilibrium test: History, subdivision and admixture. American Journal of Human Genetics, 57, 455–464.
Falk, C. T., & Rubenstein, P. (1987). Haplotype relative risk: An easy reliable way to construct a proper control sample for risk calculations. Annals of Human Genetics, 51, 227–233.
Fisher, E., Van Dyke, D. C., Sears, L., Matzen, J. R. N., Lin-Dyken, D., & McBrien, D. M. (1999). Recent research on the etiologies of autism. Infants and Young Children, 11(3), 1–8.
Folstein, S. E., & Piven, J. (1991). Etiology of autism: Genetic influences. Pediatrics, 87, 767–773.
Folstein, S. E., & Rutter, M. L. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18, 297–321.
Fombonne, E., Bolton, P., Prior, J., Jordan, H., & Rutter, M. (1997). A family study of autism: Cognitive patterns and levels in parents and siblings. Journal of Child Psychology and Psychiatry, 38, 667–684.
Gillberg, I. C., Gillberg, C., & Ahlsén, G. (1994). Autistic behavior and attention deficits in tuberous sclerosis: A population-based study. Developmental Medicine and Child Neurology, 36, 50–56.
Gillberg, C., & Wahlstrom, J. (1985). Chromosome abnormalities in infantile autism and other childhood psychoses: A population study of 66 cases. Developmental Medicine and Neurology, 27, 293–304.
Gilman, J. T., & Tuchman, R. F. (1995). Autism and associated behavioral disorders: Pharmacotherapeutic intervention. Annals Pharmacotherapeutics, 29(1), 47–56.
Greenberg, B. D., Tolliver, T. J., Huang, S. J., Li, Q., Bengel, D., & Murphy, D. L. (1999). Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets. American Journal of Medical Genetics, 88(1), 83–87.
Heils, A., Teufel, A., Petri, S., Stober, G., Riederer, P., Bengel, D., et al. (1996). Allelic variation of human serotonin transporter gene expression. Journal of Neurochemistry, 66(6), 2621–2624.
Herault, J., Martineau, J., Petit, E., Perrot, A., Sauvage, D., Barthelemy, C., et al. (1994a). Genetic markers in autism: Association study on short arm of chromosome 11. Journal of Autism and Developmental Disorders, 24(2), 233–236.
Herault, J., Petit, E., Buchler, M., Martineau, J., Cherpi, C., Perrot, A., et al. (1994b). Lack of association between three genetic markers of brain growth factors and infantile autism. Biological Psychiatry, 35(4), 281–283.
Horwitz, B., Rumsey, J. M., Grady, C. L., & Rapoport, S. I. (1988). The cerebral metabolic landscape in autism: Intercorrelations of regional glucose utilization. Archives of Neurology, 45, 749–755.
Horowitz, R., Shufman, A., Aharoni, S., Kotler, M., & Ebstein, R. P. (2000). Confirmation of an excess of the high enzyme activity COMT val allele in heroin addicts in a family-based haplotype relative risk study. American Journal of Medical Genetics, 96, 599–603.
Jones, V., & Prior, M. (1985). Motor imitation abilities and neurological signs in autistic children. Journal of Autism and Developmental Disorders, 15, 37–46.
Karayiorgou, M., Altemus, M., Galke, B. L., Goldman, D., Murphy, D. L., Ott, J., et al. (1997). Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proceedings of the National Academy of Sciences USA, 94(9), 4572–4575.
Karayiorgou, M., Sobin, C., Blundell, M. L., Galke, B. L., Malinova, L., Goldberg, P., et al. (1999). Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. Biological Psychiatry, 45(9), 1178–1189.
Katsui, T., Okuda, M., Usuda, S., & Koizumi, T. (1986). Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins). Journal of Autism and Developmental Disorders, 16(1), 69–76.
Kaufman, A. S., & Kaufman, N. L. (1983). Kaufman Assessment Battery for Children (K-ABC). American Guidance Services. Circle Pines, MN: American Guidance Services, Inc.
Klauck, S. M., Munstermann, E., Bieber-Martig, B., Ruhl, D., Lisch, S., Schmotzer, G., et al. (1997a). Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. Human Genetics, 100(2), 224–229.
Klauck, S. M., Poustka, F., Benner, A., Lesch, K. P., & Poustka, A. (1997b). Serotonin transporter (5-HTT) gene variants associated with autism? Human Molecular Genetics, 6(13), 2233–2238.
Kotler, M., Peretz, B., Cohen, H., Averbuch, A. V., Grinshpoon, A., Gritsenko, I., et al. (1999). Homicidal behavior in schizophrenia associated with a genetic polymorphism determining low catechol O-methyltransferase (COMT) activity. American Journal of Medical Genetics (Neuropsychiatric Genetics), 88, 628–633.
Lachman, H. M., Nolan, K. A., Mohr, P., Saito, T., & Volavka, J. (1998). Association between catechol O-methyltransferase genotype and violence in schizophrenia and schizoaffective disorder. American Journal of Psychiatry, 155(6), 835–837.
Lachman, H. M., Papolos, D. F., Saito, T., Yu, Y. M., Szumlanski, C. L., & Weinshilboum, R. M. (1996). Human catechol-O-methyltransferase pharmacogenetics: Description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics, 6(3), 243–250.
LaHoste, G. J., Swanson, J. M., Wigal, S. B., Glabe, C., Wigal, T., King, N., et al. (1996). Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder. Molecular Psychiatry, 1(2), 121–124.
Leiter International Performance Scale (1948). Chicago: Stoelting Co.
Lesch, K. P., Bengel, D., Heils, A., Sabol, S. Z., Greenberg, B. D., Petri, S., et al. (1996). Association of anxietyrelated traits with a polymorphism in the serotonin transporter gene regulatory region. Science, 274(5292), 1527–1531.
Limprasert, P., Zhong, N., Dobkin, C., & Brown, W. T. (1997). Polymorphism of FXR1 showing lack of association with autism. American Journal of Medical Genetics, 74(4), 453–454.
Lord, C., Rutter, M., & LeCouteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.
Maestrini, E., Lai, C., Marlow, A., Matthews, N., Wallace, S., Bailey, A., et al. (1999). Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. American Journal of Medical Genetics, 88(5), 492–496.
Martineau, J., Herault, J., Petit, E., Guerin, P., Hameury, L., Perrot, A., et al. (1994). Catecholaminergic metabolism and autism [see comments]. Developmental Medicine and Child Neurology, 36(8), 688–697.
McDougle, C. J., Epperson, C. N., Price, L. H., & Gelernter, J. (1998). Evidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder. Molecular Psychiatry, 3(3), 270–273.
Ozonoff, S., Rogers, S. J., Farnham, J. M., & Pennington, B. F. (1993). Can standard measures identify subclinical markers of autism? Journal of Autism and Developmental Disorders, 23(3), 471–478.
Persico, A. M., Militerni, R., Bravaccio, C., Schneider, C., Melmed, R., Conciatori, M., et al. (2000). Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. American Journal of Medical Genetics, 96(1), 123–127.
Petit, E., Herault, J., Martineau, J., Perrot, A., Barthelemy, C., Hameury, L., et al. (1995). Association study with two markers of a human homeogene in infantile autism. Journal of Medical Genetics, 32(4), 269–274.
Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., et al. (1999). Genomewide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Human Molecular Genetics, 8(5), 805–812.
Pickles, A., Bolton, P., Macdonald, H., Bailey, A., LeCouteur, A., Sim, L., & Rutter, M. (1995). Latent class analysis of recurrence risk for complex phenotypes with selection and measurement error: A twin and family history study of autism. American Journal of Human Genetics, 57, 717–726.
Pilowsky, T., Yirmiya, N., Shulman, C., & Dover, R. (1998). The Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: Differences between diagnostic systems and comparison between genders. Journal of Autism and Developmental Disorders, 28, 143–151.
Pigott, T. A., & Seay, S. M. (1999). A review of the efficacy of selective serotonin reuptake inhibitors in obsessivecompulsive disorder. Journal of Clinical Psychiatry, 60(2), 101–106.
Piven, J. (1999). Genetic liability for autism: The behavioral expression in relatives. International Review of Psychiatry, 11, 299–308.
Piven, J., Gayle, J., Chase, J., Fink, B., Landa, R., Wzorek, M. M., & Folstein, S. (1990). A family history of neuropsychiatric disorders in the adult siblings of autistic individuals. Journal of the American Academy of Child and Adolescent Psychiatry, 29, 177–183.
Piven, J., Palmer, P., Jacobi, D., Childress, D., & Arndt, S. (1997). Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families. American Journal of Psychiatry, 154(2), 185–109.
Piven, J., Tsai, G. C., Nehme, E., Coyle, J. T., Chase, G. A., & Folstein, S. E. (1991). Platelet serotonin, a possible marker for familial autism. Journal of Autism and Developmental Disorders, 21(1), 51–59.
Risch, N., & Merikangas, K. (1996). The future of genetic studies of complex human diseases. Science, 273, 1516–1517.
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., et al. (1999). A genomic screen of autism: Evidence for a multilocus etiology. American Journal of Human Genetics, 65(2), 493–507.
Risch, N., & Teng, J. (1998). The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling. Genome Research, 8(12), 1273–1288.
Ritvo, E. R., Freeman, B. J., Mason-Brothers, A., Mo, A., & Ritvo A. M. (1985). Concordance of the syndrome of autism in 40 pairs of afflicted twins. American Journal of Psychiatry, 142, 74–77.
Rutter, M. (2000). Genetic studies of autism: From the 1970s into the millennium. Journal of Abnormal Child Psychology, 28, 3–14.
Smalley, S., Asarnow, R., & Spence, M. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953–961.
Smalley, S., Tanguay, P., & Smith, M. (1992). Autism and tuberous sclerosis. Journal of autism and Developmental Disorders, 22, 339–355.
Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales. Circle Pines, MN: American Guidance Services.
Spielman, R. S., McGinnis, R. E., & Ewans, W. J. (1993). Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). American Journal of Human Genetics, 52, 506–516.
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., & Bohman, M. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, 30(3), 405–416.
Swanson, J. M., Flodman, P., Kennedy, J., Spence, M. A., Moyzis, R., Schuck, S., et al. (2000). Dopamine genes and ADHD. Neuroscience and Biobehavior, 24,1, 21–25.
Szatmari, P. (1999). Heterogeneity and the genetics of autism [see comments]. Journal of Psychiatry and Neuroscience, 24(2), 159–165.
Teng, J., & Risch, N. (1999). The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases. II. Individual genotyping. Genome Research, 9(3), 234–241.
Todorov, C., Freeston, M. H., & Borgeat, F. (2000). On the pharmacotherapy of obsessive-compulsive disorder: Is a consensus possible? Canadian Journal of Psychiatry, 45(3), 257–262.
Vandenbergh, D. J., Rodriguez, L. A., Miller, I. T., Uhl, G. R., & Lachman, H. M. (1997). High-activity catechol-O-methyltransferase allele is more prevalent in polysubstance abusers. American Journal of Medical Genetics, 74(4), 439–442.
Verbaten, M. N., Roelofs, J. W., van Engeland, H., Kenemans, J. L., & Slangen, J. L. (1991). Abnormal visual event-related potentials of autistic children. Journal of Autism and Developmental Disorders, 21, 449–470.
Wechsler, D. (1974). WISC-R Manual: Wechsler Intelligence Scale for Children-Revised. San Antonio, TX: Psychological Corporation.
Wong, V., & Wong, S. N. (1991). Brainstem auditory evoked potential study in children with autistic disorder. Journal of Autism and Developmental Disorders, 21, 329–340.
Yirmiya, N., Shulman, C., & Arbelle, S. (1996). Hebrew version of the Autism Diagnostic Interview-Revised. Available from the authors by request.
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Yirmiya, N. et al. (2002). Analysis of Three Coding Region Polymorphisms in Autism. In: Schopler, E., Yirmiya, N., Shulman, C., Marcus, L.M. (eds) The Research Basis for Autism Intervention., vol 264. Springer, Boston, MA. https://doi.org/10.1007/0-306-47946-X_7
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