Hostname: page-component-78c5997874-dh8gc Total loading time: 0 Render date: 2024-11-05T02:56:25.094Z Has data issue: false hasContentIssue false
  • English
  • Français

Facilitating Autism Research

Published online by Cambridge University Press:  04 December 2017

Deborah Fein  and
Molly Helt
Deborah Fein*
Affiliation:
Departments of Psychological Sciences and Pediatrics, University of Connecticut, Storrs, Connecticut
Molly Helt
Affiliation:
Departments of Psychology and Neuroscience, Trinity College, Hartford, Connecticut
*
Correspondence and reprint requests to: Deborah Fein, Department of Psychological Sciences, University of Connecticut, 406 Babbidge Road, Storrs CT 06268. E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903–915)

Keywords

Autistic disorderSyndromeNeurodevelopmental disordersPhenotypeGeneticsNeuroimaging
Type
Section 4 – Pediatric Disorders
Information
Journal of the International Neuropsychological Society , Volume 23 , Special Issue 9-10: Special Issue: Commemoration of the 50th Anniversary of the International Neuropsychological Society , October 2017 , pp. 903 - 915
Copyright
Copyright © The International Neuropsychological Society 2017 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

Abrahams, B. (2011). Genetics: Many roads to the autism spectrum disorders. In D. Fein (Ed.), The neuropsychology of autism (pp. 35–46). New York: Oxford Press.Google Scholar
Allely, C. (2013). Pain sensitivity and observer perception of pain in individuals with Autistic Spectrum Disorder. The Scientific World Journal, 2013, 916178. doi: 10.1155/2013/916178 CrossRefGoogle ScholarPubMed
American Psychiatric Association (APA). (2000). Diagnostic and statistical manual of mental disorders: DSM-IV-TR. Washington, DC: American Psychiatric Association.Google Scholar
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC: APA.Google Scholar
Anderson, G.M., Jacobs-Stannard, A., Chawarska, K., Volkmar, F.R., & Kliman, H.J. (2007). Placental trophoblast inclusions in autism spectrum disorder. Biological Psychiatry, 61, 487–491.Google Scholar
Anderson, D.K., Liang, J.W., & Lord, C. (2014). Predicting young adult outcome among more and less cognitively able individuals with autism spectrum disorders. Journal of Child Psychology and Psychiatry, 55, 485–494.Google Scholar
Asperger, H. (1944). Die “Autistischen Psychopathen” im Kindesalter. European Archives of Psychiatry and Clinical Neuroscience, 117, 76–136.Google Scholar
Asperger, H. (1991). ‘Autistic psychopathy’ in childhood (U. Frith, Trans.). In U. Frith (Ed.), Autism and Asperger syndrome (pp. 37–92). (This chapter is an annotated translation of a German article by Hans Asperger that was published in “Archiv für Psychiatrie und Nervenkrankenheiten,” 1944, 117, 76–136. The original also appeared in “Heilpädagogik,” Vienna: Springer-Verlag, 1952).Google Scholar
Bailey, A., & Parr, J. (2003). Implications of the broader phenotype for concepts of autism. Autism: Neural Basis and Treatment Possibilities, 251, 26–36.Google Scholar
Baird, G., Charman, T., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., &Simonoff, E. (2008). Regression, developmental trajectory and associated problems in disorders in the autism spectrum: the SNAP study. Journal of Autism and Developmental Disorders, 38(10), 1827–1836.Google Scholar
Barbaro, J., & Dissanayake, C. (2017). Diagnostic stability of autism spectrum disorder in toddlers prospectively identified in a community-based setting: Behavioural characteristics and predictors of change over time. Autism, 13, 6236–6266.Google Scholar
Baron-Cohen, S. (1997). Mindblindness: An essay on autism and theory of mind. Cambridge: MIT Press.Google Scholar
Barton, M.L., Robins, D.L., Jashar, D., Brennan, L., & Fein, D. (2013). Sensitivity and specificity of proposed DSM-5 criteria for autism spectrum disorder in toddlers. Journal of Autism and Developmental Disorders, 43, 1184–1195.Google Scholar
Bauman, M.L. (2010). Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics, 7(3), 320–327.CrossRefGoogle ScholarPubMed
Belmonte, M.K., Allen, G., Beckel-Mitchener, A., Boulanger, L., Carper, R.A., & Webb, S.J. (2004). Autism and abnormal development of brain connectivity. Journal of Neuroscience, 24(42), 9228–9231.CrossRefGoogle ScholarPubMed
Benton, A.L. (1961). The fiction of the “Gerstmann Syndrome”. Journal of Neurology, Neurosurgery, and Psychiatry, 24, 176–181.CrossRefGoogle ScholarPubMed
Bernier, R., Golzio, C., Xiong, B., Stessman, H.A., Coe, B.P., Penn, O., & Schuurs-Hoeijmakers, J.H. (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell, 158(2), 263–276.Google Scholar
Bishop, D.V.M., Mayberry, M., Maley, A., Wong, D., Hill, W., & Hallmayer, J. (2004). Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient. The Journal of Child Psychology and Psychiatry, 45(8), 1431–1436.Google Scholar
Bishop, D.V. (2010). Overlaps between autism and language impairment: Phenomimicry or shared etiology? Behavior Genetics, 40, 618–629.Google Scholar
Blacher, J., & Kasari, C. (2016). The intersection of autism spectrum disorder and intellectual disability. Journal of Intellectual Disability Research, 60, 399–400.CrossRefGoogle ScholarPubMed
Bolton, P.F., Carcani-Rathwell, I., Hutton, J., Goode, S., Howlin, P., & Rutter, M. (2011). Epilepsy in autism: Features and correlates. The British Journal of Psychiatry, 198, 289–294.Google Scholar
Boucher, J. (2012). Putting theory of mind in its place: Psychological explanations of the socio-emotional-communicative impairments in autistic spectrum disorder. Autism, 16, 226–246.Google Scholar
Bourgeron, T. (2016). Current knowledge on the genetics of autism and propositions for future research. Comptes Rendus Biologies, 339(7–8), 300–307.Google Scholar
Brennan, L., Barton, M., Chen, C.M., Green, J., & Fein, D. (2015). Detecting subgroups in children diagnosed with pervasive developmental disorder-not otherwise specified. Journal of Autism and Developmental Disorders, 45, 1329–1344.Google Scholar
Brian, J., Bryson, S.E., Smith, I.M., Roberts, W., Roncadin, C., Szatmari, P., & Zwaigenbaum, L. (2016). Stability and change in autism spectrum disorder diagnosis from age 3 to middle childhood in a high-risk sibling cohort. Autism, 20, 888–892.Google Scholar
Campbell, M.G., Kohane, I.S., & Kong, S.W. (2013). Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome. BMC Medical Genomics, 6, 34.CrossRefGoogle ScholarPubMed
Casanova, M.F., El-Baz, A., Vanbogaert, E., Narahari, P., & Switala, A. (2010). A topographic study of minicolumnar core width by lamina comparison between autistic subjects and controls: Possible minicolumnar disruption due to an anatomical element in-common to multiple laminae. Brain Pathology, 20, 451–458.Google Scholar
Chaste, P., Klei, L., Sanders, S.J., Hus, V., Murtha, M.T., Lowe, J.K., & Geschwind, D. (2015). A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry, 77(9), 775–784.Google Scholar
Christensen, J., Grønborg, T.K., Sørensen, M.J., Schendel, D., Parner, E.T., Pedersen, L.H., & Vestergaard, M. (2013). Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA, 309(16), 1696–1703.Google Scholar
Constantino, J.N., Kennon-McGill, S., Weichselbaum, C., Marrus, N., Haider, A., Glowinski, A.L., & Jones, W. (2017). Infant viewing of social scenes is under genetic control and is atypical in autism. Nature, 547, 340–344.Google Scholar
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 and Psychiatry, 45(4), 719–726.Google Scholar
Courchesne, E., Carper, R., & Akshoomoff, N. (2003). Evidence of brain overgrowth in the first year of life in autism. JAMA, 290, 337–344.Google Scholar
Croen, L.A., Braunschweig, D., Haapanen, L., Yoshida, C.K., Fireman, B., Grether, J.K., & Van de Water, J. (2008). Maternal mid-pregnancy autoantibodies to fetal brain protein: the early markers for autism study. Biological Psychiatry, 64(7), 583–588.Google Scholar
Curran, L.K., Newschaffer, C.J., Lee, L.C., Crawford, S.O., Johnston, M.V., & Zimmerman, A.W. (2007). Behaviors associated with fever in children with autism spectrum disorders. Pediatrics, 120, e1386–e1392.Google Scholar
Cuthbert, B.N., & Insel, T.R. (2013). Toward the future of psychiatric diagnosis: The seven pillars of RDoC. BMC Medicine, 11, 126.Google Scholar
Dalton, K.M., Nacewicz, B.M., Johnstone, T., Schaefer, H.S., Gernsbacher, M.A., Goldsmith, H.H., & Davidson, R.J. (2005). Gaze fixation and the neural circuitry of face processing in autism. Nature Neuroscience, 8, 519–526.Google Scholar
De Rubeis, S., & Buxbaum, J.D. (2015). Genetics and genomics of autism spectrum disorder: embracing complexity. Human Molecular Genetics, 24(R1), R24–R31.Google Scholar
Di Martino, A., Kelly, C., Grzadzinski, R., Zuo, X.N., Mennes, M., Mairena, M.A., & Milham, M.P. (2011). Aberrant striatal functional connectivity in children with autism. Biological Psychiatry, 69, 847–856.Google Scholar
Elia, J., Gai, X., Xie, H.M., Perin, J.C., Geiger, E., Glessner, J.T., & Muganga, B.M. (2010). Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Molecular Psychiatry, 15, 637–646.CrossRefGoogle ScholarPubMed
Eigsti, I.M., Stevens, M.C., Schultz, R.T., Barton, M., Kelley, E., Naigles, L., & Fein, D.A. (2016). Language comprehension and brain function in individuals with an optimal outcome from autism. NeuroImage: Clinical, 10, 182–191.Google Scholar
Esbensen, A.J., Seltzer, M.M., Lam, K.S., & Bodfish, J.W. (2009). Age-related differences in restricted repetitive behaviors in autism spectrum disorders. Journal of Autism and Developmental Disorders, 39, 57–66.Google Scholar
Fein, D., Pennington, B., Markowitz, P., Braverman, M., & Waterhouse, L. (1986). Toward a neuropsychological model of infantile autism: Are the social deficits primary? Journal of the American Academy of Child Psychiatry, 25, 198–212.Google Scholar
Fein, D., Barton, M., Eigsti, I.M., Kelley, E., Naigles, L., Schultz, R.T., & Troyb, E. (2013). Optimal outcome in individuals with a history of autism. Journal of Child Psychology and Psychiatry, 54, 195–205.Google Scholar
Foss-Feig, J.H., McPartland, J.C., Anticevic, A., & Wolf, J. (2016). Re-conceptualizing ASD within a dimensional framework: Positive, negative, and cognitive feature clusters. Journal of Autism and Developmental Disorders, 46(1), 342–351.Google Scholar
Fountain, C., Winter, A.S., & Bearman, P.S. (2012). Six developmental trajectories characterize children with autism. Pediatrics, 129, e1112–e1120.CrossRefGoogle ScholarPubMed
Frazier, T.W., Georgiades, S., Bishop, S.L., & Hardan, A.Y. (2014). Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. Journal of the American Academy of Child & Adolescent Psychiatry, 53(3), 329–340.Google Scholar
Freedman, E.G., & Foxe, J.J. (2017). Eye‐movements, sensorimotor adaptation and cerebellar‐dependent learning in Autism: Towards potential biomarkers and sub‐phenotypes. European Journal of Neuroscience, 1460, 9568.Google Scholar
Gardener, H., Spiegelman, D., & Buka, S.L. (2009). Prenatal risk factors for autism: comprehensive meta-analysis. The British Journal of Psychiatry, 195, 7–14.Google Scholar
Garon, N., Bryson, S.E., Zwaigenbaum, L., Smith, I.M., Brian, J., Roberts, W., & Szatmari, P. (2009). Temperament and its relationship to autistic symptoms in a high-risk infant sib cohort. Journal of Abnormal Child Psychology, 37(1), 59–78.Google Scholar
Gaugler, T., Klei, L., Sanders, S.J., Bodea, C.A., Goldberg, A.P., Lee, A.B., & Ripke, S. (2014). Most genetic risk for autism resides with common variation. Nature Genetics, 46(8), 881–885.Google Scholar
Georgiades, S., Szatmari, P., Boyle, M., Hanna, S., Duku, E., Zwaigenbaum, L., & Smith, I. (2013). Investigating phenotypic heterogeneity in children with autism spectrum disorder: A factor mixture modeling approach. Journal of Child Psychology and Psychiatry, 54, 206–215.Google Scholar
Gergely, G. (2003). The development of teleological versus mentalizing observational learning strategies in infancy. Bulletin of the Menninger Clinic, 67(2: Special Issue), 113–131.Google Scholar
German, J., Lejeune, J., Macintyre, M.N., & De Grouchy, J. (1964). Chromosomal autoradiography in the cri du chat syndrome. Cytogenetic and Genome Research, 3(5), 347–352.Google Scholar
Gillberg, C. (2010). The ESSENCE in child psychiatry: Early symptomatic syndromes eliciting neurodevelopmental clinical examinations. Research in Developmental Disabilities, 3, 1543–1551.Google Scholar
Gillberg, C., & Billstedt, E. (2000). Autism and Asperger syndrome: Coexistence with other clinical disorders. Acta Psychiatrica Scandinavica, 102, 321–330.Google Scholar
Gillberg, C., & Fernell, E. (2014). Autism plus versus autism pure. Journal of Autism and Developmental Disorders, 44, 3274–3276.Google Scholar
Gilman, S.R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011). Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron, 70, 898–907.Google Scholar
Hadjikhani, N., Joseph, R.M., Snyder, J., Chabris, C.F., Clark, J., Steele, S., & Harris, G.J. (2004). Activation of the fusiform gyrus when individuals with autism spectrum disorder view faces. Neuroimage, 22(3), 1141–1150.Google Scholar
Hallmayer, J.N., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., & Risch, N. (2011). Genetic heritability and shared environmental factors among twins with autism. Archives of General Psychiatry, 68, 1102–1095.Google Scholar
Hamilton, A.F.D.C., Brindley, R.M., & Frith, U. (2007). Imitation and action understanding in autistic spectrum disorders: how valid is the hypothesis of a deficit in the mirror neuron system? Neuropsychologia, 45(8), 1859–1868.Google Scholar
Hansen, R.L., Ozonoff, S., Krakowiak, P., Angkustsiri, K., Jones, C., Deprey, L.J., & Hertz-Picciotto, I. (2008). Regression in autism: Prevalence and associated factors in the CHARGE Study. Ambulatory Pediatrics, 8, 25–31.Google Scholar
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.Google Scholar
Hazlett, H.C., Gu, H., Munsell, B.C., Kim, S.H., Styner, M., Wolff, J.J., & Collins, D.L. (2017). Early brain development in infants at high risk for autism spectrum disorder. Nature, 542, 348–351.Google Scholar
Helt, M., Kelley, E., Kinsbourne, M., Pandey, J., Boorstein, H., Herbert, M., & Fein, D. (2008). Can children with autism recover? If so, how?. Neuropsychology Review, 18, 339–366.Google Scholar
Hermelin, B. (2001). Bright splinters of the mind: A personal story of research with autistic savants. London: Jessica Kingsley Publishers.Google Scholar
Hobson, R.P. (2014). Autism and emotion. Handbook of autism and pervasive developmental disorders (4th ed.). Hoboken: John Wiley and Sons.Google Scholar
Hobson, R.P., & Bishop, M. (2003). The pathogenesis of autism: Insights from congenital blindness. Philosophical Transactions of the Royal Society Series B, Biological Sciences, 358(1430), 335–344.Google Scholar
Hobson, P.R., & Lee, A. (2010). Reversible autism among congenitally blind children? A controlled follow‐up study. Journal of Child Psychology and Psychiatry, 51, 1235–1241.Google Scholar
Hobson, R.P., & Meyer, J.A. (2005). Foundations for self and other: A study in autism. Developmental Science, 8, 481–491.Google Scholar
Howlin, P., Goode, S., Hutton, J., & Rutter, M. (2004). Adult outcome for children with autism. Journal of Child Psychology and Psychiatry, 45, 212–229.Google Scholar
Howlin, P. (2010). Evaluating psychological treatments for children with autism-spectrum disorders. Advances in Psychiatric Treatment, 16, 133–140.Google Scholar
Hutton, J., Goode, S., Murphy, M., Le Couteur, A., & Rutter, M. (2008). New-onset psychiatric disorders in individuals with autism. Autism, 12, 373–390.Google Scholar
Hazlett, H.C., Gu, H., Munsell, B.C., Kim, S.H., Styner, M., Wolff, J. J., & Collins, D.L. (2017). Early brain development in infants at high risk for autism spectrum disorder. Nature, 542, 348–351.Google Scholar
Jones, W., & Klin, A. (2013). Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature, 504(7480), 427–431.Google Scholar
Jure, R., Pogonza, R., & Rapin, I. (2016). Autism spectrum disorders (ASD) in blind children: very high prevalence, potentially better outlook. Journal of Autism and Developmental Disorders, 46, 749–759.Google Scholar
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–250.Google Scholar
Kasari, C., Chang, Y.C., & Patterson, S. (2013). Pretending to play or playing to pretend: The case of autism. American Journal of Play, 6, 124–135.Google Scholar
Kennedy, D.P., Redcay, E., & Courchesne, E. (2006). Failing to deactivate: Resting functional abnormalities in autism. Proceedings of the National Academy of Sciences of the United States of America, 103, 8275–8280.Google Scholar
Kinsbourne, M. (2011). Repetitive movements and arousal. In D. Fein (Ed.), The neuropsychology of autism (pp. 367–394). New York: Oxford Press.Google Scholar
Kinsbourne, M., & Helt, M. (2011). Entrainment, mimicry, and interpersonal synchrony. In D. Fein (Ed.), The neuropsychology of autism (pp. 339–365). New York: Oxford Press.Google Scholar
Kjelgaard, M.M., & Tager-Flusberg, H. (2001). An investigation of language impairment in autism: Implications for genetic subgroups. Language and Cognitive Processes, 16(2-3), 287–308.Google Scholar
Klin, A., Lin, D.J., Gorrindo, P., Ramsay, G., & Jones, W. (2009). Two-year-olds with autism orient to non-social contingencies rather than biological motion. Nature, 459(7244), 257–261.Google Scholar
Kolevzon, A., Gross, R., & Reichenberg, A. (2007). Prenatal and perinatal risk factors for autism: a review and integration of findings. Archives of Pediatrics & Adolescent Medicine, 161, 326–333.Google Scholar
Lai, M.C., Lombardo, M.V., Chakrabarti, B., & Baron-Cohen, S. (2013). Subgrouping the Autism “Spectrum”: Reflections on DSM-5. PLoS Biol, 11(4), e1001544.Google Scholar
Lam, K.S., Aman, M.G., & Arnold, L.E. (2006). Neurochemical correlates of autistic disorder: a review of the literature. Research in Developmental Disabilities, 27(3), 254–289.Google Scholar
Le Couteur, A., Bailey, A., Goode, S., Pickles, A., Gottesman, I., Robertson, S., & Rutter, M. (1996). A broader phenotype of autism: The clinical spectrum in twins. Journal of Child Psychology and Psychiatry, 37, 785–801.Google Scholar
Leekam, S.R., Prior, M.R., & Uljarevic, M. (2011). Restricted and repetitive behaviors in autism spectrum disorders: A review of research in the last decade. Psychological Bulletin, 137, 562.Google Scholar
Lejeune, J., Lafourcade, J., Berger, R., Vialatte, J., Boeswillwald, M., Seringe, P., & Turpin, R. (1963). Trois cas de délétion partielle du bras court d’un chromosome 5. CR Acad Sci (D), 257, 3098–3102.Google Scholar
Libero, L.E., Nordahl, C.W., Li, D.D., & Amaral, D.G. (2017). Macrocephaly and megalencephaly in autism spectrum disorder. Autism Imaging and Devices, 171.Google Scholar
Li, Q., Han, Y., Dy, A.B.C., & Hagerman, R.J. (2017). The gut microbiota and autism spectrum disorders. Frontiers in Cellular Neuroscience, 11, 120.Google Scholar
Liu, X.Q., Paterson, A.D., Szatmari, P., & Autism Genome Project Consortium. (2008). Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biological Psychiatry, 64(7), 561–570.Google Scholar
Lord, C., Petkova, E., Hus, V., Gan, W., Lu, F., Martin, D.M., & Risi, S. (2012). A multisite study of the clinical diagnosis of different autism spectrum disorders. Archives of General Psychiatry, 69, 306–313.Google Scholar
Loviglio, M.N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., & Reymond, A. (2017). Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry, 22(6), 836–849.Google Scholar
Lyall, K., Schmidt, R.J., & Hertz-Picciotto, I. (2014). Maternal lifestyle and environmental risk factors for autism spectrum disorders. International Journal of Epidemiology, 43(2), 443–464.Google Scholar
Mandy, W.P.L., & Skuse, D. (2008). Research review: What is the association between the social-communication element of autism and repetitive interests, behaviors and activities? Journal of Child Psychology & Psychiatry, 49, 795–808.Google Scholar
Mandy, W., Charman, T., Puura, K., & Skuse, D. (2014). Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: Evidence from Finnish and UK samples. Autism, 18, 45–54.Google Scholar
Markram, K., & Markram, H. (2010). The intense world theory–a unifying theory of the neurobiology of autism. Frontiers in Human Neuroscience, 4, 224.Google Scholar
Marshall, C.R., Noor, A., Vincent, J.B., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. The American Journal of Human Genetics, 82(2), 477–488.Google Scholar
Matthews, M.D. (2016). Autism and comorbid psychiatric disorders: Assessment, treatment, services and supports (Doctoral dissertation, University of Otago).Google Scholar
McIntosh, D.N., Reichmann-Decker, A., Winkielman, P., & Wilbarger, J.L. (2006). When the social mirror breaks: deficits in automatic, but not voluntary, mimicry of emotional facial expressions in autism. Developmental Science, 9(3), 295–302.Google Scholar
Mehler, M.F., & Purpura, D.P. (2009). Autism, fever, epigenetics and the locus coeruleus. Brain Research Reviews, 59(2), 388–392.Google Scholar
Menon, V., & Uddin, L.Q. (2010). Saliency, switching, attention and control: A network model of insula function. Brain Structure and Function, 214(5-6), 655–667.CrossRefGoogle ScholarPubMed
Mraz, K.D., Dixon, J., Dumont-Mathieu, T., & Fein, D. (2009). Accelerated head and body growth in infants later diagnosed with autism spectrum disorders: A comparative study of optimal outcome children. Journal of Child Neurology, 24(7), 833–845.Google Scholar
Mueller, R., & Amaral, D. (2017). Editorial: Time to give up on Autism Spectrum Disorder? Autism Research, 10, 10–14.Google Scholar
Ozonoff, S., Iosif, A.M., Baguio, F., Cook, I.C., Hill, M.M., Hutman, T., & Steinfeld, M.B. (2010). A prospective study of the emergence of early behavioral signs of autism. Journal of the American Academy of Child & Adolescent Psychiatry, 49(3), 256–266.Google Scholar
Ozonoff, S., Young, G.S., Landa, R.J., Brian, J., Bryson, S., Charman, T., & Zwaigenbaum, L. (2015). Diagnostic stability in young children at risk for autism spectrum disorder: A baby siblings research consortium study. Journal of Child Psychology and Psychiatry, 56(9), 988–998.Google Scholar
Pardo, C.A., Farmer, C.A., Thurm, A., Shebl, F.M., Ilieva, J., Kalra, S., & Swedo, S. (2017). Serum and cerebrospinal fluid immune mediators in children with autistic disorder: A longitudinal study. Molecular Autism, 8, 1–15.Google Scholar
Pardo, C.A., Vargas, D.L., & Zimmerman, A.W. (2005). Immunity, neuroglia and neuroinflammation in autism. International Review of Psychiatry, 17(6), 485–495.Google Scholar
Parr, J.R., Le Couteur, A., Baird, G., Rutter, M., Pickles, A., Fombonne, E., ... International Molecular Genetic Study of Autism Consortium. (2011). Early developmental regression in autism spectrum disorder: evidence from an international multiplex sample. Journal of autism and developmental disorders, 41(3), 332–340.Google Scholar
Percy, A.K. (2001). Rett syndrome: clinical correlates of the newly discovered gene. Brain and Development, 23, S202–S205.Google Scholar
Persico, A.M., & Napolioni, V. (2013). Autism genetics. Behavioural Brain Research, 251, 95–112.Google Scholar
Pettersson, E., Anckarsäter, H., Gillberg, C., & Lichtenstein, P. (2013). Different neurodevelopmental symptoms have a common genetic etiology. Journal of Child Psychology and Psychiatry, 54(12), 1356–1365.Google Scholar
Pickles, A., Simonoff, E., Conti‐Ramsden, G., Falcaro, M., Simkin, Z., Charman, T., & Baird, G. (2009). Loss of language in early development of autism and specific language impairment. Journal of Child Psychology and Psychiatry, 50(7), 843–852.CrossRefGoogle ScholarPubMed
Pierce, K., Haist, F., Sedaghat, F., & Courchesne, E. (2004). The brain response to personally familiar faces in autism: findings of fusiform activity and beyond. Brain, 127(12), 2703–2716.CrossRefGoogle ScholarPubMed
Piven, J., Palmer, P., Jacobi, D., Childless, D., & Arndt, S. (1997). Broader autism Phenotype: Evidence from a family history study of multiple-incidence autism families. American Journal of Psychiatry, 154, 185–190.Google Scholar
Rapin, I. (2014). Classification of behaviorally defined disorders: Biology versus the DSM. Journal of Autism and Developmental Disorders, 44(10), 2661–2666.Google Scholar
Rogers, S.J. (2009). What are infant siblings teaching us about autism in infancy? Autism Research, 2(3), 125–137.CrossRefGoogle ScholarPubMed
Rommelse, N., Langerak, I., van der Meer, J., de Bruijn, Y., Staal, W., Oerlemans, A., & Buitelaar, J. (2015). Intelligence may moderate the cognitive profile of patients with ASD. PLoS One, 10, 0138698.Google Scholar
Ronald, A., Happe, F., & Plomin, R. (2005). The genetic relationship between individual differences in social and nonsocial behaviors characteristic of autism. Developmental Science, 8, 444–458.Google Scholar
Rønningen, K.S., Paltiel, L., Meltzer, H.M., Nordhagen, R., Lie, K.K., Hovengen, R., & Hoppin, J.A. (2006). The biobank of the Norwegian Mother and Child Cohort Study: a resource for the next 100 years. European Journal of Epidemiology, 21(8), 619–625.Google Scholar
Rutter, M., Andersen-Wood, L., Beckett, C., Bredenkamp, D., Castle, J., Groothues, C., & O’Connor, T.G. (1999). Quasi-autistic patterns following severe early global deprivation. Journal of Child Psychology and Psychiatry, 40, 537–549.Google Scholar
Rutter, M., Beckett, C., Castle, J., Colvert, E., Kreppner, J., Mehta, M., & Sonuga- Barke, E. (2007). Effects of profound early institutional deprivation: An overview of findings from a UK longitudinal study of Romanian adoptees. European Journal of Developmental Psychology, 4(3), 332–350.Google Scholar
Rutter, M. (2011). Research review: Child psychiatric diagnosis and classification: Concepts, findings, challenges and potential. Journal of Child Psychology and Psychiatry, 52(6), 647–660.Google Scholar
Rutter, M. (2013). Changing concepts and findings on autism. Journal of Autism and Developmental Disorders, 43(8), 1749–1757.Google Scholar
Rutter, M. (2014). Addressing the issue of fractionation in autism spectrum disorder: A commentary on Brunsdon and Happe, Frazier et al., Hobson and Mandy et al. Autism, 18(1), 55–57.Google Scholar
Rutter, M., Andersen‐Wood, L., Beckett, C., Bredenkamp, D., Castle, J., Groothues, C., & O’Connor, T.G. (1999). Quasi‐autistic patterns following severe early global deprivation. Journal of Child Psychology and Psychiatry, 40, 537–549.Google Scholar
Schultz, R.T., Gauthier, I., Klin, A., Fulbright, R.K., Anderson, A.W., Volkmar, F., & Gore, J.C. (2000). Abnormal ventral temporal cortical activity during face discrimination among individuals with autism and Asperger syndrome. Archives of General Psychiatry, 57, 331–340.Google Scholar
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 358, 445–449.Google Scholar
Shao, Y., Cuccaro, M.L., Hauser, E.R., Raiford, K.L., Menold, M.M., Wolpert, C.M., & Abramson, R.K. (2003). Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. The American Journal of Human Genetics, 72(3), 539–548.Google Scholar
Simonoff, E., Pickles, A., Charman, T., Chandler, S., Loucas, T., & Baird, G. (2008). Psychiatric disorders in children with autism spectrum disorders: Prevalence, comorbidity, and associated factors in a population-derived sample. Journal of the American Academy of Child & Adolescent Psychiatry, 47(8), 921–929.Google Scholar
South, M., Ozonoff, S., & Mcmahon, W.M. (2007). The relationship between executive functioning, central coherence, and repetitive behaviors in the high-functioning autism spectrum. Autism, 11, 437–451.Google Scholar
Spence, S.J., Cantor, R.M., Chung, L., Kim, S., Geschwind, D.H., & Alarcón, M. (2006). Stratification based on language-related endophenotypes in autism: Attempt to replicate reported linkage. American Journal of Medical Genetics, Part B, 141B, 591–598.Google Scholar
Stone, W.L., Lee, E.B., Ashford, L., Brissie, J., Hepburn, S.L., Coonrod, E.E., & Weiss, B.H. (1999). Can autism be diagnosed accurately in children under 3 years? Journal of Child Psychology and Psychiatry, 40(2), 219–226.Google Scholar
Toth, K., Munson, J., Meltzoff, A.N., & Dawson, G. (2006). Early predictors of communication development in young children with autism spectrum disorder: Joint attention, imitation, and toy play. Journal of Autism and Developmental Disorders, 36(8), 993–1005.Google Scholar
Uddin, L.Q., & Menon, V. (2009). The anterior insula in autism: Under-connected and under-examined. Neuroscience & Biobehavioral Reviews, 33, 1198–1203.Google Scholar
Uher, R., & Rutter, M. (2012). Basing psychiatric classification on scientific foundation: Problems and prospects. International Review of Psychiatry, 24(6), 591–605.Google Scholar
Walker, D.R., Thompson, A., Zwaigenbaum, L., Goldberg, J., Bryson, S.E., Mahoney, W.J., & Szatmari, P. (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.Google Scholar
Waterhouse, L. (2013). Rethinking autism: Variation and complexity. San Diego: Academic Press.Google Scholar
Waterhouse, L., Fein, D., & Modahl, C. (1996). Neurofunctional mechanisms in autism. Psychological Review, 103(3), 457.Google Scholar
Waterhouse, L., & Gillberg, C. (2014). Why autism must be taken apart. Journal of Autism and Developmental Disorders, 44(7), 1788–1792.Google Scholar
Waterhouse, L., London, E., & Gillberg, C. (2016). ASD Validity. Journal of Autism and Developmental Disorders, 3(4), 302–329.Google Scholar
Waterhouse, L., London, E., & Gilberg, C. (2017). The ASD diagnosis has blocked the discovery of valid biological variation in neurodevelopmental social impairment. Autism Research, 10(7), 1182.Google Scholar
Whibley, A.C., Plagnol, V., Tarpey, P.S., Abidi, F., Fulston, T., Choma, M.K., & Raymond, F.L. (2010). Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. American Journal of Human Genetics, 87, 173–188.Google Scholar
Williams, D., & Bowler, D. (2014). Autism spectrum disorder: Fractionable or coherent? Autism, 18, 2–5.Google Scholar
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, 11–29.Google Scholar
Wing, L. (1981). Asperger’s syndrome: A clinical account. Psychological Medicine, 11(1), 115–129.Google Scholar
Woodhouse, W., Bailey, A., Rutter, M., Bolton, P., Baird, G., & Couteur, A. (1996). Head circumference in autism and other pervasive developmental disorders. Journal of Child Psychology and Psychiatry, 37(6), 665–671.Google Scholar
World Health Organization (WHO). (1993). ICD-10, the ICD-10 classification of mental and behavioural disorders: Diagnostic criteria for research. Geneva: World Health Organization.Google Scholar
Yirmiya, N., & Charman, T. (2010). The prodrome of autism: early behavioral and biological signs, regression, peri-and post-natal development and genetics. Journal of Child Psychology and Psychiatry, 51(4), 432–458.Google Scholar
Yuen, R.K., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., & Gazzellone, M.J. (2015). Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine, 21, 185–191.Google Scholar
Zürcher, N. R., Donnelly, N., Rogier, O., Russo, B., Hippolyte, L., Hadwin, J., & Hadjikhani, N. (2013). It’s all in the eyes: subcortical and cortical activation during grotesqueness perception in autism. PLoS ONE, 8(1), e54313.Google Scholar
Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P. (2005). Behavioral manifestations of autism in the first year of life. International Journal of Developmental Neuroscience, 23, 143–152.Google Scholar