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Neuropsychology Review
Published in: Neuropsychology Review 4/2008

01-12-2008

The ‘Fractionable Autism Triad’: A Review of Evidence from Behavioural, Genetic, Cognitive and Neural Research

Authors: Francesca Happé, Angelica Ronald

Published in: Neuropsychology Review | Issue 4/2008

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Abstract

Autism is diagnosed on the basis of a triad of impairments in social interaction, communication, and flexible imaginative functions (with restricted and repetitive behaviors and interests; RRBIs). There has been a strong presumption that these different features of the syndrome are strongly intertwined and proceed from a common cause at the genetic, cognitive and neural levels. In this review we examine evidence for an alternative approach, considering the triad as largely ‘fractionable’. We present evidence from our own twin studies, and review relevant literature on autism and autistic-like traits in other groups. We suggest that largely independent genes may operate on social skills/impairments, communication abilities, and RRBIs, requiring a change in molecular-genetic research approaches. At the cognitive level, we suggest that satisfactory accounts exist for each of the triad domains, but no single unitary account can explain both social and nonsocial features of autism. We discuss the implications of the fractionable-triad approach for both diagnosis and future research directions.
Literature
Abell, F., Krams, M., Ashburner, J., Passingham, R., Friston, K., Frackowiak, R., et al. (1999). The neuroanatomy of autism: a voxel-based whole brain analysis of structural scans. Neuroreport, 10(8), 1647–1651.PubMed
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.PubMed
Alarcon, M., Cantor, R. M., Liu, J., Gilliam, T. C., & Geschwind, D. H. (2002). Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. American Journal of Human Genetics, 70(1), 60–71.PubMed
Amodio, D. M., & Frith, C. D. (2006). Meeting of minds: the medial frontal cortex and social cognition. Nature Reviews Neuroscience, 7, 268–77.PubMed
Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., et al. (2008). A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. American Journal of Human Genetics, 82(1), 160–164.PubMed
Austin, E. J. (2005). Personality correlates of the broader autism phenotype as assessed by the Autism Spectrum Quotient. Personality and Individual Differences, in press.
Auyeung, B., Baron-Cohen, S., Wheelwright, S., & Allison, C. (2008). The Autism Spectrum Quotient: Children’s Version (AQ-Child). J Autism Dev Disord, 38(7), 1230–1240.PubMed
Bailey, A., Le Couteur, 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(1), 63–77.PubMed
Baron-Cohen, S., Tager-Flusberg, H., & Cohen, D. J. (Eds.). (2000). Understanding other minds: Perspectives from developmental cognitive neuroscience (2nd ed.). Oxford, England: Oxford University Press.
Belmonte, M. K., Allen, G., Beckel-Mitchener, A., Boulanger, L. M., Carper, R. A., & Webb, S. J. (2004). Autism and abnormal development of brain connectivity. Journal of Neuroscience, 24(42), 9228–9231.PubMed
Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: diagnostic validity. British Journal of Psychiatry, 175, 444–451.PubMed
Best, C. S., Moffat, V. J., Power, M. J., Owens, D. G. C., & Johnstone, E. C. (2008). The boundaries of the cognitive phenotype of autism: Theory of Mind, central coherence and ambiguous figure perception in young people with autistic traits. Journal of Autism and Developmental Disorders, 38, 840–847.PubMed
Betancur, C., Leboyer, M., & Gillberg, C. (2002). Increased rate of twins among affected sibling pairs with autism. American Journal of Human Genetics, 70(5), 1381–1383.PubMed
Bolte, S., & Poustka, F. (2001). [Factor structure of the Autism Diagnostic Interview-Revised (ADI-R): a study of dimensional versus categorical classification of autistic disorders]. Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 29(3), 221–229.PubMed
Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., et al. (1994). A case–control family history study of autism. Journal of Child Psychology & Psychiatry & Allied Disciplines, 35(5), 877–900.
Booth, R., Charlton, R., Hughes, C., & Happé, F. (2003). Disentangling weak coherence and executive dysfunction: planning drawing in autism and attention-deficit/hyperactivity disorder. Philosophical Transactions of the Royal Society of London Series B, Biological Sciences, 358(1430), 387–392.PubMed
Bradford, Y., Haines, J., Hutcheson, H., Gardiner, M., Braun, T., Sheffield, V., et al. (2001). Incorporating language phenotypes strengthens evidence of linkage to autism. American Journal of Medical Genetics, 105(6), 539–547.PubMed
Briskman, J., Happé, F. & Frith, U. (2001). Exploring the cognitive phenotype of autism: Weak ‘central coherence’ in parents and siblings of children with autism. II. Real-life skills and preferences. Journal of Child Psychology and Psychiatry, 42, 309–316.PubMed
Bruder, C. E., Piotrowski, A., Gijsbers, A. A., Andersson, R., Erickson, S., de Stahl, T. D., et al. (2008). Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. American Journal of Human Genetics, 82(3), 763–771.PubMed
Brune, C. W., Kim, S. J., Salt, J., Leventhal, B. L., Lord, C., & Cook Jr., E. H. (2006). 5-HTTLPR genotype-specific phenotype in children and adolescents with autism. American Journal of Psychiatry, 163(12), 2148–2156.PubMed
Bryson, S. E., Clark, B. S., & Smith, I. M. (1988). First report of a Canadian epidemiological study of autistic syndromes. Journal of Child Psychology & Psychiatry & Allied Disciplines, 29(4), 433–445.
Buxbaum, J. D., Silverman, J. M., Smith, C. J., Kilifarski, M., Reichert, J., Hollander, E., et al. (2001). Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. American Journal of Human Genetics, 68(6), 1514–1520.PubMed
Caron, C., & Rutter, M. (1991). Comorbidity in child psychopathology: Concepts, issues and research strategies. Journal of Child Psychology & Psychiatry & Allied Disciplines, 32(7), 1063–1080.
Castelli, F., Frith, C., Happé, F., & Frith, U. (2002). Autism, Asperger syndrome and brain mechanisms for the attribution of mental states to animated shapes. Brain: A Journal of Neurology, 125(8), 1839–1849.
Charman, T., Carroll, F., & Sturge, C. (2001). Theory of mind, executive function and social competence in boys with ADHD. Emotional & Behavioural Difficulties, 6(1), 31–49.
Charman, T., Taylor, E., Drew, A., Cockerill, H., Brown, J. A., & Baird, G. (2005). “Outcome at 7 years of children diagnosed with autism at age 2: predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time”, Journal of Child Psychology & Psychiatry & Allied Disciplines, vol. 46, no. 5, pp. 500–513.
Chen, G. K., Kono, N., Geschwind, D. H., & Cantor, R. M. (2006). Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder. Molecular Psychiatry, 11(2), 214–220.PubMed
Constantino, J. N., Gruber, C. P., Davis, S., Hayes, S., Passanante, N., & Przybeck, T. (2004). The factor structure of autistic traits. Journal of Child Psychology & Psychiatry & Allied Disciplines, 45(4), 719–726.
Constantino, J. N., 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(1), 2–11.PubMed
Croen, L. A., Grether, J. K., & Selvin, S. (2002). Descriptive epidemiology of autism in a California population: who is at risk? Journal of Autism and Developmental Disorders, 32(3), 217–224.PubMed
DiLalla, D. L., & Rogers, S. J. (1994). Domains of the Childhood Autism Rating Scale: relevance for diagnosis and treatment. Journal of Autism and Developmental Disorders, 24(2), 115–128.PubMed
Ehlers, S., & Gillberg, C. (1993). The epidemiology of Asperger syndrome. A total population study. Journal of Child Psychology & Psychiatry & Allied Disciplines, 34(8), 1327–1350.
Folstein, S. E., & Rutter, M. (1977). Genetic influences and infantile autism. Nature, 265(5596), 726–728.PubMed
Freeman, B. J., Schroth, P., Ritvo, E., Guthrie, D., & Wake, L. (1980). The Behavior Observation Scale for autism (BOS): initial results of factor analysis. Journal of Autism and Developmental Disorders, 10(3), 343–346.PubMed
Frith, U. (1989). Autism: explaining the Enigma. Oxford, Blackwell.
Frith, C. (2003). What do imaging studies tell us about the neural basis of autism? Novartis Foundation Symposium, 251, 149–66 discussion 166–76, 281–97.PubMed
Frith, U., & Happé, F. (1994). Autism: beyond ‘‘theory of mind’’. Cognition, 50, 115–132.PubMed
Gadow, K. D., DeVincent, C. J., Pomeroy, J., & Azizian, A. (2005). Comparison of DSM-IV symptoms in elementary school-age children with PDD versus clinic and community samples. Autism, 9(4), 392–415.PubMed
Geurts, H. M., Verte, S., Oosterlaan, J., Roeyers, H., & Sergeant, J. A. (2004). How specific are executive functioning deficits in attention deficit hyperactivity disorder and autism? Journal of Child Psychology and Psychiatry, 45, 836–854.PubMed
Goin-Kochel, R. P., Mazefsky, C. A., & Riley, B. P. (2008). Level of functioning in autism spectrum disorders: phenotypic congruence among affected siblings. Journal of Autism and Developmental Disorders, 38(6), 1019–1027.PubMed
Goldenfeld, N., Baron-Cohen, S., & Wheelwright, S. (2006). Empathizing and systemizing in males, females and autism. Clinical Neuropsychiatry 2.
Greenberg, D. A., Hodge, S. E., Sowinski, J., & Nicoll, D. (2001). Excess of twins among affected sibling pairs with autism: implications for the etiology of autism. American Journal of Human Genetics, 69(5), 1062–1067.PubMed
Griffith, E. M., Pennington, B. F., Wehner, E. A., & Rogers, S. J. (1999). Executive functions in young children with autism. Child Development, 70(4), 817–832.PubMed
Hallmayer, J., Glasson, E. J., Bower, C., Petterson, B., Croen, L., Grether, J., et al. (2002). On the twin risk in autism. American Journal of Human Genetics, 71(4), 941–946.PubMed
Happé, F. G. E. (1994). Wechsler IQ profile and theory of mind in autism: a research note. Journal of Child Psychology and Psychiatry, 35, 1461–1471.PubMed
Happé, F. G. E. (1997). Central coherence and theory of mind in autism: reading homographs in context. British Journal of Developmental Psychology, 15, 1–12.
Happé, F. (2000). Parts and wholes, meaning and minds: Central coherence and its relation to theory of mind. In S. Baron-Cohen, H. Tager-Flusberg, & D. Cohen (Eds.), Understanding other minds: Perspectives from autism and developmental cognitive neuroscience. Oxford: Oxford University Press.
Happé, F. (2001). Social and non-social development in Autism:Where are the links. In J. A. Burack, T. Charman, N. Yirmiya, & P. R. Zelazo (Eds.), Perspectives on development in autism. NJ: Erlbaum.
Happé, F. (2003). Cognition in autism: One deficit or many? Autism:Neural basis and treatment possibilities (Novartis Foundation Symposium 251) pp. 198–212. Chichester: Wiley.
Happé, F., Booth, R., Charlton, R., & Hughes, C. (2006). Executive function deficits in autism spectrum disorders and attention-deficit/hyperactivity disorder: examining profiles across domains and ages. Brain & Cognition, 61(1), 25–39.
Happé, F., Briskman, J. & Frith, U. (2001). Exploring the cognitive phenotype of autism: Weak ‘central coherence’ in parents and siblings of children with autism. I. Experimental tests. Journal of Child Psychology and Psychiatry, 42, 299–307.PubMed
Happé, F. & Frith, U. (2006). The weak coherence account: Detail-focused cognitive style in autism spectrum disorders. Journal of Autism and Developmental Disorders, 36, 5–25.PubMed
Hill, E. L. (2004). Evaluating the theory of executive dysfunction in autism. Developmental Review, 24(2), 189–233.
Hill, E. L. (2004). Executive dysfunction in autism. Trends in Cognitive Sciences, 8(1), 26–32.PubMed
Hirschhorn, J. N., & Daly, M. J. (2005). Genome-wide association studies for common diseases and complex traits. Nature Reviews Genetics, 6(2), 95–108.PubMed
Hoekstra, R. A., Bartels, M., Cath, D. C., & Boomsma, D. I. (2008). Factor structure, reliability and criterion validity of the autism-spectrum quotient (AQ): A study in Dutch population and patient groups. J Autism Dev Disord, 38(8), 1555–1566.PubMed
Hughes, C., Leboyer, M., & Bouvard, M. (1997). Executive function in parents of children with autism. Psychological Medicine, 27(1), 209–220.PubMed
Hultman, C. M., Sparen, P., & Cnattingius, S. 2002, “Perinatal risk factors for infantile autism”, Epidemiology, 13(4), 417–423.PubMed
Jarrold, C., Butler, D. W., Cottington, E. M., & Jimenez, F. (2000). Linking theory of mind and central coherence bias in autism and in the general population. Developmental Psychology, 36, 126–138.PubMed
Johnson, K. A., Robertson, I. H., Kelly, S. P., Silk, T. J., Barry, E., Daibhis, A., et al. (2007). Dissociation in performance of children with ADHD and high-functioning autism on a task of sustained attention. Neuropsychologia, 45(10), 2234–45.PubMed
Jolliffe, T., & Baron-Cohen, S. (2000). Linguistic processing in high-functioning adults with autism or Asperger’s syndrome. Is global coherence impaired? Psychological Medicine, 30, 1169–1187.PubMed
Joseph, J. (2002). Twin studies in psychiatry and psychology: science or pseudoscience? Psychiatric Quarterly, 73(1), 71–82.PubMed
Just, M. A., Cherkassky, V. L., Keller, T. A., Kana, R. K., & Minshew, N. J. (2007). Functional and anatomical cortical underconnectivity in autism: evidence from an FMRI study of an executive function task and corpus callosum morphometry. Cerebral Cortex, 17(4), 951–61.PubMed
Kamin, L. J., & Goldberger, A. S. (2002). Twin studies in behavioral research: a skeptical view. Theoretical Population Biology, 61(1), 83–95.PubMed
Kanner, L., & Eisenberg, L. (1956). Early infantile autism 1943–1955. American Journal of Orthopsychiatry, 26, 55–65.
Knickmeyer, R., Baron-Cohen, S., Raggatt, P., & Taylor, K. (2005). Foetal testosterone, social cognition, and restricted interests in children. Journal of Child Psychology and Psychiatry, 45, 1–13.
Kolevzon, A., Smith, C. J., Schmeidler, J., Buxbaum, J. D., & Silverman, J. M. (2004). Familial symptom domains in monozygotic siblings with autism. American Journal of Medical Genetics, 129B(1), 76–81.PubMed
Lauritsen, M. B., Pedersen, C. B., & Mortensen, P. B. (2004). The incidence and prevalence of pervasive developmental disorders: A Danish population-based study. Psychological Medicine, 34(7), 1339–1346.PubMed
Le Couteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, S., Gottesman, I., et al. (1996). A broader phenotype of autism: the clinical spectrum in twins. Journal of Child Psychology & Psychiatry & Allied Disciplines, 37(7), 785–801.
Lecavalier, L. (2005). An evaluation of the Gilliam Autism Rating Scale. J Autism Dev Disord, 35(6), 795–805.PubMed
Lopez, B. R., Lincoln, A. J., Ozonoff, S., & Lai, Z. (2005). Examining the relationship between executive functions and restricted, repetitive symptoms of autistic disorder. Journal of Autism and Developmental Disorders, 35(4), 445–460.PubMed
Maccoby, E. E. (2000). Parenting and its effects on children: on reading and misreading behavior genetics. Annual Review of Psychology, 51, 1–27.PubMed
MacLean, J. E., Szatmari, P., Jones, M. B., Bryson, S. E., Mahoney, W. J., Bartolucci, G., et al. (1999). Familial factors influence level of functioning in pervasive developmental disorder, Journal of the American Academy of Child & Adolescent Psychiatry, 38(6), 746–753.CrossRef
Mandy, W. P., & Skuse, D. H. (2008). Research review: what is the association between the social-communication element of autism and repetitive interests, behaviours and activities? J Child Psychol Psychiatry, 49(8), 795–808.PubMed
Manjaly, Z. M., Bruning, N., Neufang, S., Stephan, K. E., Brieber, S., Marshall, J. C., et al. (2007). Neurophysiological correlates of relatively enhanced local visual search in autistic adolescents. Neuroimage, 35(1), 283–291.PubMed
Martin, N., Boomsma, D., & Machin, G. (1997). A twin-pronged attack on complex traits. Nat.Genet, 17(4), 387–392.PubMed
Mazefsky, C. A., Goin-Kochel, R. P., Riley, B. P., Maes, H. H., & The Autism Genetic Resource Exchange Consortium (2008). Genetic and environmental influences on symptom domains in twins and siblings with autism. Research in Autism Spectrum Disorders, 2, 320–331.PubMed
McCauley, J. L., Olson, L. M., Dowd, M., Amin, T., Steele, A., Blakely, R. D., et al. (2004). Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. American Journal of Medical Genetics, 127B(1), 104–112.PubMed
McGovern, C.W., & Sigman, M. (2005). Continuity and change from early childhood to adolescence in autism. Journal of Child Psychology and Psychiatry, 46, 401–408.PubMed
Minshew, N. J., & Goldstein, G. (1998). Autism as a disorder of complex information processing. Mental Retardation and Developmental Disabilities Research Reviews, l4(2), 129–136.
Miranda-Linne, F. M., & Melin, L. (2002). A factor analytic study of the Autism Behavior Checklist. Journal of Autism and Developmental Disorders, 32(3), 181–188.PubMed
Morgan, B., Maybery, M., & Durkin, K. (2003). Weak central coherence, poor joint attention, and low verbal ability: Independent deficits in early autism. Developmental Psychology, 39, 646–656.PubMed
Mottron, L., Dawson, M., Soulières, I., Hubert, B., & Burack, J. A. (2006). Enhanced perceptual functioning in autism: an updated model, and eight principle of autistic perception. Journal of Autism and Developmental Disorders, special issue: Perception in Autism, 36, 27–43.
Mulder, E. J., Anderson, G. M., Kema, I. P., Brugman, A. M., Ketelaars, C. E., de Bildt, A., et al. (2005). Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. American Journal of Medical Genetics B Neuropsychiatric Genetics, 133B(1), 93–96.
Myhr, G. (1998). Autism and other pervasive developmental disorders: exploring the dimensional view. Canadian Journal of Psychiatry, 43(6), 589–595.
Nurmi, E. L., Dowd, M., Tadevosyan-Leyfer, O., Haines, J. L., Folstein, S. E., & Sutcliffe, J. S. (2003). Exploratory subsetting of Autism families based on savant skills improves evidence of genetic linkage to 15q11–q13. Journal of the American Academy of Child & Adolescent Psychiatry, 42(7), 856–863.
Ohnishi, T., Matsuda, H., Hashimoto, T., Kunihiro, T., Nishikawa, M., Uema, T., et al. (2000). Abnormal regional cerebral blood flow in childhood autism. Brain, 123(Pt 9), 1838–1844.PubMed
Ozonoff, S., & Jensen, J. (1999). Specific executive function profiles in three neurodevelopmental disorders. Journal of Autism and Developmental Disorders, 29(2), 171–177.PubMed
Ozonoff, S., Pennington, B. F., & Rogers, S. J. (1991). Executive function deficits in high-functioning autistic individuals: relationship to theory of mind. Journal of Child Psychology and Psychiatry, 32(7), 1081–1105.PubMed
Ozonoff, S., South, M. & Provencal, S. (2005). Executive Functions. In, Volkmar, F. R., Paul, R., Klin, A. & Cohen, D. (Eds), Handbook of autism and pervasive developmental disorders, Vol. 1: Diagnosis, development, neurobiology, and behavior (3rd ed.). (pp. 606–627). xxv, 703 pp. Hoboken, NJ, US: John Wiley & Sons Inc.
Pickles, A., Starr, E., Kazak, S., Bolton, P., Papanikolaou, K., Bailey, A., et al. (2000). Variable expression of the autism broader phenotype: findings from extended pedigrees. Journal of Child Psychology & Psychiatry & Allied Disciplines, 41(4), 491–502.
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), 185–190.PubMed
Plaisted, K. C. (2001). Reduced generalization in autism: An alternative to weak central coherence. In J. A. Burack, T. Charman, N. Yirmiya, & P. R. Zelazo (Eds.), The development of autism: Perspectives from theory and research (pp. 149–169). Mahwah, NJ: Erlbaum.
Pellicano, E. (2007). Links between theory of mind and executive function in young children with autism: clues to developmental primacy. Developmental Psychology, 43(4), 974–990.PubMed
Pellicano, E., Maybery, M., & Durkin, K. (2005). Central coherence in typically developing preschoolers: does it cohere and does it relate to mindreading and executive control? Journal of Child Psychology and Psychiatry, 46(5), 533–547.PubMed
Pellicano, E., Maybery, M., Durkin, K., & Maley, A. (2006). Multiple cognitive capabilities/deficits in children with an autism spectrum disorder: “Weak” central coherence and its relationship to theory of mind and executive control. Development and Psychopathology, 18(1), 77–98.PubMed
Perner, J., Stummer, S., & Lang, B. (1999). Executive functions and theory of mind: Cognitive complexity or functional dependence? In P. D. Zelazo, J. W. Astington, & D. R. Olson (Eds.), Developing theories of intention: Social understanding and self-control (pp. 133–152). Mahwah, NJ, US: Erlbaum xi, 358 pp.
Plomin, R., DeFries, J. C., McClearn, G. E., & McGuffin, P. (2008). Behavioral Genetics (4th ed.). New York: Worth.
Rippon, G., Brock, J., Brown, C., & Boucher, J. (2007). Disordered connectivity in the autistic brain: challenges for the “new psychophysiology”. International Journal of Psychophysiology, 63(2), 164–172.PubMed
Risch, N. J. (2000). Searching for genetic determinants in the new millennium. Nature, 405(6788), 847–856.PubMed
Ritvo, E. R., Freeman, B. J., Mason-Brothers, A., Mo, A., & Ritvo, A. M. (1985). Concordance for the syndrome of autism in 40 pairs of afflicted twins. American Journal of Psychiatry, 142(1), 74–77.PubMed
Ronald, A. (2006). Quantitative Genetic Study of Autistic-Like Traits in Middle Childhood: Evidence from a Population Twin Sample for Genetic Heterogeneity Between the Behaviours that Characterise Autism Spectrum Conditions. University of London (unpublished thesis).
Ronald, A., Happé, F., & Plomin, R. (2005). The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Developmental Science, 8, 444–458.PubMed
Ronald, A., Happé, F., Bolton, P., Butcher, L. M., Price, T. S., Wheelwright, S., et al. (2006a). Genetic heterogeneity between the three components of the autism spectrum: a twin study. Journal of the American Academy of Child & Adolescent Psychiatry, 45, 691–699.
Ronald, A., Happe, F., Price, T. S., Baron-Cohen, S., & Plomin, R. (2006b). Phenotypic and genetic overlap between autistic traits at the extremes of the general population. Journal of the American Academy of Child & Adolescent Psychiatry, 45, 1206–1214.
Rose, S., Lewontin, R. C., & Kamin, L. J. (1984). Not in our genes: Biology, ideology and human nature. London: Penguin.
Russell, J. (1997). Ed. Autism as an executive disorder. New York, NY, US: Oxford University Press.
Russell, J., & Hill, E. L. (2001). Action-monitoring and intention reporting in children with autism. Journal of Child Psychology and Psychiatry, 42(3), 317–328.PubMed
Rutter, M. (1968). Concepts of autism: a review of research. Journal of Child Psychology & Psychiatry & Allied Disciplines, 9(1), 1–25.
Rutter, M. (1978). Diagnosis and definition of childhood autism. Journal of Autism and Childhood Schizophrenia, 8, 139–161.PubMed
Rutter, M. (2005). Aetiology of autism: findings and questions. Journal of Intellectual Disability Research, 49(Pt 4), 231–238.PubMed
Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., et al. (2006). Evidence for multiple loci from a genome scan of autism kindreds. Molecular Psychiatry, 11(11), 1049–1060 1979.PubMed
Schmitz, N., Rubia, K., Daly, E., Smith, A., Williams, S., & Murphy, D. G. (2006). Neural correlates of executive function in autistic spectrum disorders. Biological Psychiatry, 59(1), 7–16.PubMed
Scott, F. J., Baron-Cohen, S., Bolton, P., Brayne, C. (2002). The CAST (Childhood Asperger Syndrome Test): Preliminary Development of a UK Screen for Mainstream Primary-School-Age Children. Autism, 6, 9–31.PubMed
Shaked, M., & Yirmiya, N. (2004). Matching procedures in autism research: evidence from meta-analytic studies. Journal of Autism and Developmental Disorders, 34(1), 35–40.PubMed
Sham, P. C., Cherny, S. S., Purcell, S., & Hewitt, J. K. (2000). Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. American Journal of Human Genetics, 66(5), 1616–1630.PubMed
Shao, Y., Cuccaro, M. L., Hauser, E. R., Raiford, K. L., Menold, M. M., Wolpert, C. M., et al. (2003). Fine mapping of autistic disorder to chromosome 15q11–q13 by use of phenotypic subtypes. American Journal of Human Genetics, 72(3), 539–548.PubMed
Shao, Y., Raiford, K. L., Wolpert, C. M., Cope, H. A., Ravan, S. A., Ashley-Koch, A. A., et al. (2002). Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. American Journal of Human Genetics, 70(4), 1058–1061.PubMed
Siegel, B., Anders, T. F., Ciaranello, R. D., Bienenstock, B., & Kraemer, H. C. (1986). Empirically derived subclassification of the autistic syndrome. Journal of Autism and Developmental Disorders, 16(3), 275–293.PubMed
Sigman, M., & McGovern, C. W. (2005). Improvement in cognitive and language skills from preschool to adolescence in autism. Journal of Autism and Developmental Disorders, 35, 15–23.PubMed
Silani, G., Bird, G., Brindley, R., Singer, T., Frith, C., & Frith, U. (2008). Levels of emotional awareness and autism: an fMRI study. Social Neuroscience, 3(2), 97–112.PubMed
Silverman, J. M., Smith, C. J., Schmeidler, J., Hollander, E., Lawlor, B. A., Fitzgerald, M., et al. (2002). Symptom domains in autism and related conditions: evidence for familiality. American Journal of Medical Genetics, 114(1), 64–73.PubMed
Spiker, D., Lotspeich, L., Kraemer, H. C., Hallmayer, J., McMahon, W., Petersen, P. B., et al. (1994). Genetics of autism: characteristics of affected and unaffected children from 37 multiplex families. American Journal of Medical Genetics, 54(1), 27–35.PubMed
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., et al. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology & Psychiatry & Allied Disciplines, 30(3), 405–416.
Stella, J., Mundy, P., & Tuchman, R. (1999). Social and nonsocial factors in the Childhood Autism Rating Scale. Journal of Autism and Developmental Disorders, 29(4), 307–317.PubMed
Sung, Y. J., Dawson, G., Munson, J., Estes, A., Schellenberg, G. D., & 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(1), 68–81.PubMed
Sutcliffe, J. S., Delahanty, R. J., Prasad, H. C., McCauley, J. L., Han, Q., Jiang, L., et al. (2005). Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. American Journal of Human Genetics, 77(2), 265–279.PubMed
Sykes, N. H., & Lamb, J. A. (2007). Autism: the quest for the genes. Expert Reviews in Molecular Medicine, 9(24), 1–15.PubMed
Szatmari, P. (1999). Heterogeneity and the genetics of autism. Journal of Psychiatry and Neuroscience, 24(2), 159–165.PubMed
Szatmari, P., Georgiades, S., Bryson, S., Zwaigenbaum, L., Roberts, W., Mahoney, W., et al. (2006). Investigating the structure of the restricted, repetitive behaviours and interests domain of autism. Journal of Child Psychology and Psychiatry, 47, 582–590.PubMed
Szatmari, P., Jones, M. B., Holden, J., Bryson, S., Mahoney, W., Tuff, L., et al. (1996). High phenotypic correlations among siblings with autism and pervasive developmental disorders. American Journal of Medical Genetics, 67(4), 354–360.PubMed
Szatmari, P., MacLean, J. E., Jones, M. B., Bryson, S. E., Zwaigenbaum, L., Bartolucci, G., et al. (2000). The familial aggregation of the lesser variant in biological and nonbiological relatives of PDD probands: a family history study. Journal of Child Psychology & Psychiatry & Allied Disciplines, 41(5), 579–586.
Szatmari, P., Merette, C., Bryson, S. E., Thivierge, J., Roy, M. A., Cayer, M., et al. (2002). Quantifying dimensions in autism: a factor-analytic study. Journal of the American Academy of Child & Adolescent Psychiatry, 41(4), 467–474.
Tadevosyan-Leyfer, O., Dowd, M., Mankoski, R., Winklosky, B., Putnam, S., McGrath, L., et al. (2003). A principal components analysis of the autism diagnostic interview—revised. Journal of the American Academy of Child & Adolescent Psychiatry, 42(7), 864–872.
Tordjman, S., Gutknecht, L., Carlier, M., Spitz, E., Antoine, C., Slama, F., et al. (2001). Role of the serotonin transporter gene in the behavioral expression of autism. Molecular Psychiatry, 6(4), 434–439.PubMed
Turner, M. (1999). Repetitive behaviour in autism: a review of psychological research. Journal of Child Psychology and Psychiatry, 40(6), 839–849.PubMed
van Lang, N. D., Boomsma, A., Sytema, S., de Bildt, A. A., Kraijer, D. W., Ketelaars, C., et al. (2006). Structural equation analysis of a hypothesised symptom model in the autism spectrum. J Child Psychol Psychiatry, 47(1), 37–44.PubMed
Visscher, P. M. (2002). Increased rate of twins among affected sib pairs. Am. J Hum. Genet, 71(4), 995–996.PubMed
Volkmar, F. R., Cicchetti, D. V., Dykens, E., Sparrow, S. S., Leckman, J. F., & Cohen, D. J. (1988). An evaluation of the Autism Behavior Checklist. Journal of Autism and Developmental Disorders, 18(1), 81–97.PubMed
Wadden, N. P. K., Bryson, S. E., & Ridger, R. S. (1991). A closer look at the autism behavior checklist: discriminant validity and factor structure. Journal of Autism & Developmental Disorders, 21(4), 529–541.
Wagner, G., Koch, K., Reichenbach, J. R., Sauer, H., & Schlosser, R. G. M. (2006). The special involvement of the rostrolateral prefrontal cortex in planning abilities(:) an event-related fMRI study with the Tower of London paradigm. Neuropsychologia, 44(12), 2337–2347.PubMed
Walker, D. R., Thompson, A., Zwaigenbaum, L., Goldberg, J., Bryson, S. E., Mahoney, W. J. et al. (2004). Specifying PDD-NOS: a comparison of PDD-NOS, Asperger syndrome, and autism. Journal of the American Academy of Child & Adolescent Psychiatry, 43(2), 172–180.
Wing, L. (1981). Language, social, and cognitive impairments in autism and severe mental retardation. Journal of Autism and Developmental Disorders, 11(1), 31–44.PubMed
Wing, L., & Gould, J. (1978). Systematic recording of behaviors and skills of retarded and psychotic children. Journal of Autism and Childhood Schizophrenia, 8(1), 79–97.PubMed
Wing, L., & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification. Journal of Autism and Developmental Disorders, 9(1), 11–29.PubMed
Wing, L., Yeates, S. R., Brierley, L. M., & Gould, J. (1976). The prevalence of early childhood autism: comparison of administrative and epidemiological studies. Psychological Medicine, 6(1), 89–100.PubMedCrossRef
Yang, M. S., & Gill, M. (2007). A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. International Journal of Developmental Neuroscience, 25(2), 69–85.PubMed
Zelazo, P. D., Burack, J. A., Boseovski, J. J., Jacques, S., & Frye, D. (2001). A cognitive complexity and control framework for the study of autism. In J. A. Burack, T. Charman, N. Yirmiya, & P. R Zelazo (Eds.), The development of autism: Perspectives from theory and research (pp. 195–217). Mahwah, NJ, US: Erlbaum.
Metadata
Title
The ‘Fractionable Autism Triad’: A Review of Evidence from Behavioural, Genetic, Cognitive and Neural Research
Authors
Francesca Happé
Angelica Ronald
Publication date
01-12-2008
Publisher
Springer US
Published in
Neuropsychology Review / Issue 4/2008
Print ISSN: 1040-7308
Electronic ISSN: 1573-6660
DOI
https://doi.org/10.1007/s11065-008-9076-8

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