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Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5

Published online by Cambridge University Press:  15 March 2021

Fred R. Volkmar*
Affiliation:
Child Study Center, Yale University, New Haven, CT, USA Center of Excellence on Autism Spectrum Disorders, Southern Connecticut State University, New Haven, CT, USA
Marc Woodbury-Smith
Affiliation:
Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK
Suzanne L. Macari
Affiliation:
Child Study Center, Yale University, New Haven, CT, USA
Roald A. Øien
Affiliation:
Child Study Center, Yale University, New Haven, CT, USA University of Tromsø – The Arctic University of Norway, Tromsø, Norway
*Corresponding
Author for Correspondence: Dr Fred Volkmar, PO Box 207900, Child Study Center, Yale University, 230 S. Frontage Rd, New Haven, CT, USA, 1 203-785-7216 (also address for offprints). E-mail: fred.voikmar@yale.edu

Abstract

This paper, written in honor of Professor Ed Zigler, focuses on some of the themes in developmental disabilities research that were so central to his work. It has now been nearly 80 years since Leo Kanner first identified the prototypic form – early infantile autism – of what is now autism spectrum disorder. In this article we summarize the development of the concept and the important accumulation of knowledge over time that has now led us to the recognition of a broader autism phenotype just as, at the same time, the current official diagnostic system in the USA has narrowed the concept. We also address current controversies regarding autism as the diagnosis is impacted by age and developmental factors, gender, and cultural issues. In parallel to the work on intellectual deficiency and development pioneered by Zigler and his colleagues, we summarize some of the challenges for the years ahead.

Type
Special Issue Article
Copyright
Copyright © The Author(s), 2021. Published by Cambridge University Press

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References

National Society for Autistic Children. (1978). National society for autistic children definition of the syndrome of autism. Journal of Autism and Childhood Schizophrenia, 8, 162169.CrossRefGoogle Scholar
American Psychiatric Association. (1980). Diagnostic and statistical manual of mental disorders (3rd ed.). Washington, DC: Author.Google Scholar
American Psychiatric Association. (1987). Diagnostic and statistical manual of mental disorders (3rd revised ed.). Washington, DC: Author.Google Scholar
American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: Author.Google Scholar
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: Author.Google Scholar
Anderson, C., Law, J. K., Daniels, A., Rice, C., Mandell, D. S., Hagopian, L., & Law, P. A. C. (2012). Occurrence and family impact of elopement in children with autism spectrum disorders. Pediatrics, 130, 870877. doi:10.1542/peds.2012-0762CrossRefGoogle ScholarPubMed
Asperger, H. (1944). Die “autistichen Psychopathen” im Kindersalter. Archive fur Psychiatrie und Nervenkrankheiten, 117, 76136.CrossRefGoogle Scholar
Asperger, H. (1979). Problems of infantile autism. Communication, 13, 4552.Google Scholar
Bargiela, S., Steward, R., & Mandy, W. (2016). The experiences of late-diagnosed women with autism spectrum conditions: An investigation of the female autism phenotype. Journal of Autism and Developmental Disorders, 46, 32813294.CrossRefGoogle ScholarPubMed
Bartak, L., & Rutter, M. (1973). Special educational treatment of autistic children: A comparative study. 1. Design of study and characteristics of units. Journal of Child Psychology and Psychiatry & Allied Disciplines, 14, 161179.CrossRefGoogle 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, 11841195.CrossRefGoogle ScholarPubMed
Becker, K. G. (2012). Male gender bias in autism and pediatric autoimmunity. Autism Research, 5, 7783.CrossRefGoogle ScholarPubMed
Boswell, J. (1989). Kindness of strangers. Chicago, IL: University of Chicago Press.Google Scholar
Burack, J. A., Root, R., & Zigler, E. (1997). Inclusive education for students with autism: Reviewing ideological, empirical, and community considerations. In Cohen, D. & Volkmar, F. (Eds.), Handbook of autism and pervasive developmental disorders (pp. 796807). New York, NY: Wiley.Google Scholar
Burack, J. A., & Volkmar, F. R. (1992). Development of low- and high-functioning autistic children. Journal of Child Psychology and Psychiatry & Allied Disciplines, 33, 607616.CrossRefGoogle ScholarPubMed
Candland, D. C. (1995). Feral children and clever animals: Reflections on human nature. New York, NY: Oxford University Press.Google Scholar
Charman, T., Loth, E., Tillmann, J., Crawley, D., Wooldridge, C., Goyard, D., … Baron-Cohen, S. (2017). The EU-AIMS Longitudinal European Autism Project (LEAP): Clinical characterization. Molecular Autism, 8, 27. doi:10.1186/s13229-017-0145-9CrossRefGoogle Scholar
Chawarska, K., Klin, A., Paul, R., Macari, S., & Volkmar, F. (2009). A prospective study of toddlers with ASD: Short-term diagnostic and cognitive outcomes. Journal of Child Psychology and Psychiatry, 50, 12351245.CrossRefGoogle ScholarPubMed
Chawarska, K., Macari, S. L., Vernetti, A., & Brunissen, L. (2020). Development of infant siblings of children with autism spectrum disorder. In Chawarska, K., & Volkmar, F. (Eds.), Autism spectrum disorders in the first years of life: Research, assessment, and treatment (pp. 167201). New York, NY: Guilford Press.Google Scholar
Chawarska, K., Shic, F., Macari, S., Campbell, D. J., Brian, J., Landa, R., … Young, G. S. (2014). 18-month predictors of later outcomes in younger siblings of children with autism spectrum disorder: a baby siblings research consortium study. Journal of the American Academy of Child & Adolescent Psychiatry, 53, 13171327.e1311.CrossRefGoogle ScholarPubMed
Chiang, H.-M., Tsai, L. Y., Cheung, Y. K., Brown, A., & Li, H. (2014). A meta-analysis of differences in IQ profiles between individuals with Asperger's disorder and high-functioning autism. Journal of Autism and Developmental Disorders, 44, 15771596.CrossRefGoogle ScholarPubMed
Cohen, D. J., Paul, R., & Volkmar, F. R. (1986). Issues in the classification of pervasive and other developmental disorders: Toward DSM-IV. Journal of the American Academy of Child Psychiatry, 25, 213220.CrossRefGoogle ScholarPubMed
Constantino, J. N., & Charman, T. (2012). Gender bias, female resilience, and the sex ratio in autism. Journal of the American Academy of Child & Adolescent Psychiatry, 51, 756758.CrossRefGoogle ScholarPubMed
Dai, Y. G., Porto, K. S., Skapek, M., Barton, M. L., Dumont-Mathieu, T., Fein, D. A., … Robins, D. L. (2020). Comparison of the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F) positive predictive value by race. Journal of Autism and Developmental Disorders, 113. doi:10.1007/s10803-020-04428-0.Google Scholar
de Giambattista, C., Ventura, P., Trerotoli, P., Margari, M., Palumbi, R., & Margari, L. (2019). Subtyping the autism spectrum disorder: Comparison of children with high functioning autism and Asperger syndrome. Journal of Autism and Developmental Disorders, 49, 138150.CrossRefGoogle ScholarPubMed
Donvan, J., & Zuker, C. (2016). In a different key: The story of autism. New York, NY: Penguin/Random House.Google Scholar
Dworzynski, K., Ronald, A., Bolton, P., & Happé, F. (2012). How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders? Journal of the American Academy of Child & Adolescent Psychiatry, 51, 788797.CrossRefGoogle ScholarPubMed
Dykens, E., Hodapp, R. M., & Finucane, B. M. (2000). Genetics and mental retardation syndromes: A new look at behavior and intervention. Baltimore, MD: Brookes.Google Scholar
Eisenberg, L., & Kanner, L. (1956). Childhood schizophrenia symposium 1955. VI infantile autism. American Journal of Orthopsychiatry, 26, 556566.CrossRefGoogle ScholarPubMed
Elison, J. T., Wolff, J. J., Reznick, J. S., Botteron, K. N., Estes, A. M., Gu, H., … Piven, J. (2014). Repetitive behavior in 12-month-olds later classified with autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 53, 12161224.CrossRefGoogle ScholarPubMed
Favazza, A. R. (1977). Feral and isolated children. British Journal of Medical Psychology, 50, 105111.CrossRefGoogle ScholarPubMed
Fein, D., Barton, M., Eigsti, I.-M., Kelley, E., Naigles, L., Schultz, R. T., … Tyson, K. (2013). Optimal outcome in individuals with a history of autism. Journal of Child Psychology and Psychiatry, 54, 195205.CrossRefGoogle ScholarPubMed
Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry & Allied Disciplines, 18, 297321.CrossRefGoogle ScholarPubMed
Fombonne, E. (1997). Epidemiology of autism and related conditions. In Volkmar, F. R. (Ed.), Autism and pervasive developmental disorders (pp. 150171). Cambridge: Cambridge University Press.Google Scholar
Frazier, T. W., Georgiades, S., Bishop, S. L., & Hardan, A. Y. (2013). 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, 329340.e3. doi:10.1016/j.jaac.2013.12.004CrossRefGoogle ScholarPubMed
Freeth, M., Milne, E., Sheppard, E., & Ramachandran, R. (2014). Autism across cultures: Perspectives from non-western cultures and implications for research. In Volkmar, F. R., Paul, R., Rogers, S. J., & Pelphrey, K. A. (Eds.), Handbook of autism and pervasive developmental disorders (Vol. 2, pp. 9971013). Hoboken, NJ: Wiley.Google Scholar
Fusar-Poli, L., Brondino, N., Rocchetti, M., Panisi, C., Provenzani, U., Damiani, D., & Politi, P. (2017). Diagnosing ASD in adults without ID: Accuracy of the ADOS-2 and the ADI-R. Journal of Autism and Developmental Disorders, 47, 33703379.CrossRefGoogle ScholarPubMed
Garmezy, N., & Rutter, M. (1983). Stress, coping, and development in children. Stress, coping, and development in children. Baltimore, MD: Johns Hopkins University Press.Google Scholar
Georgiades, S., Szatmari, P., Zwaigenbaum, L., Bryson, S., Brian, J., Roberts, W., … Garon, N. (2013). A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorder. JAMA Psychiatry, 70(1), 4248.CrossRefGoogle ScholarPubMed
Ghaziuddin, M. (2011). Asperger disorder in the DSM-V: Sacrificing utility for validity. Journal of the American Academy of Child & Adolescent Psychiatry, 50, 192193.CrossRefGoogle ScholarPubMed
Gillberg, C., Allely, C., Bougeron, T., Coleman, M., Fernell, E., Hadjikhani, N., … Sarovic, D. (2019). The neurobiology of autism. In Volkmar, F. (Ed.), Autism and the pervasive developmental disorders (3rd ed., pp. 129157). Cambridge: Cambridge University Press.CrossRefGoogle Scholar
Glick, M., Quinlan, D., & Zigler, E. (1987). Premorbid competence, role orientation, and gender differences in DSM-II versus DSM-III schizophrenic patients. Journal of Consulting and Clinical Psychology, 55, 609611.CrossRefGoogle ScholarPubMed
Glick, M., & Zigler, E. (1986). Premorbid social competence and psychiatric outcome in male and female nonschizophrenic patients. Journal of Consulting and Clinical Psychology, 54, 402403.CrossRefGoogle ScholarPubMed
Greenberg, G. (2013). The book of woe: The DSM and the unmaking of psychiatry. New York, NY: Penguin.Google Scholar
Grinker, R. R., Kang-Yi, C. D., Ahmann, C., Beidas, R. S., Lagman, A., & Mandell, D. S. (2015). Cultural adaptation and translation of outreach materials on autism spectrum disorder. Journal of Autism and Developmental Disorders, 45, 23292336.CrossRefGoogle ScholarPubMed
Haney, J. L. (2016). Autism, females, and the DSM-5: Gender bias in autism diagnosis. Social Work in Mental Health, 14, 396407.CrossRefGoogle Scholar
Happe, F. (2011). Criteria, categories, and continua: Autism and related disorders in DSM-5. Journal of the American Academy of Child & Adolescent Psychiatry, 50, 540542.CrossRefGoogle ScholarPubMed
Hermelin, B. (2001). Bright splinters of the mind: A personal story of research with autistic savants. London: Jessica Kingsley.Google Scholar
Hodapp, R. M., & Dykens, E. M. (2007). Behavioural phenotypes: Growing understandings of psychiatric disorders in individuals with intellectual disabilities. In Bouras, N., & Holt, G. (Eds.), Psychiatric and behavioural disorders in intellectual and developmental disabilities (pp. 202214). New York, NY: Cambridge University Press.Google Scholar
Hodapp, R. M., & Dykens, E. M. (2012). Genetic disorders of intellectual disability: Expanding our concepts of phenotypes and of family outcomes. Journal of Genetic Counseling, 21, 761769.CrossRefGoogle ScholarPubMed
Howlin, P., Volkmar, F. R., Paul, R., Rogers, S. J., & Pelphrey, K. A. (2014). Outcomes in adults with autism spectrum disorders. In Volkmar, F. R., Rogers, S. J., Paul, R., & Pelphrey, K. A. (Eds.), Handbook of autism and pervasive developmental disorders (4th ed., pp. 201220). Hoboken, NJ: Wiley.Google Scholar
Huang, Y., Arnold, S. R., Foley, K. R., & Trollor, J. N. (in press). Diagnosis of autism in adulthood: A scoping review. Autism. doi:10.1177/1362361320903128.Google Scholar
Huerta, M., Bishop, S. L., Duncan, A., Hus, V., & Lord, C. (2012). Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders. American Journal of Psychiatry, 169, 10561064.CrossRefGoogle ScholarPubMed
Ingersoll, B., & Wainer, A. (2014). The broader autism phenotype. In Volkmar, F. R., Rogers, S. J., Paul, R., & Pelphrey, K. A. (Eds.), The broader autism phenotype. Handbook of autism and pervasive developmental disorders, Volume 1: Diagnosis, development, and brain mechanisms (4th ed., pp. 2856). Hoboken, NJ: John Wiley & Sons Inc.Google Scholar
Jackson, S. L., & Volkmar, F. R. (2019). Diagnosis and definition of autism and other pervasive developmental disorders. In Volkmar, F. (Ed.), Autism and the pervasive developmental disorders (3rd ed., pp. 124). Cambridge: Cambridge University Press.Google Scholar
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217250.Google Scholar
Kanner, L. (1971). Follow-up study of eleven autistic children originally reported in. Journal of Autism and Childhood Schizophrenia, 4, 119145.CrossRefGoogle Scholar
Khowaja, M. K., Hazzard, A. P., & Robins, D. L. (2015). Sociodemographic barriers to early detection of autism: screening and evaluation using the M-CHAT, M-CHAT-R, and follow-up. Journal of Autism and Developmental Disorders, 45, 17971808.CrossRefGoogle ScholarPubMed
Kimple, K. S., Bartelt, E. A., Wysocki, K. L., & Steiner, M. J. (2014). Performance of the modified checklist for autism in toddlers in Spanish-speaking patients. Clinical Pediatrics, 53, 632638.CrossRefGoogle ScholarPubMed
Klin, A., Volkmar, F. R., & Sparrow, S. S. (2000). Asperger syndrome. New York, NY: Guilford Press.Google ScholarPubMed
Klin, A., Volkmar, F. R., Sparrow, S. S., Cicchetti, D. V., & Rourke, B. P. (1995). Validity and neuropsychological characterization of Asperger syndrome: Convergence with nonverbal learning disabilities syndrome. Journal of Child Psychology and Psychiatry & Allied Disciplines, 36, 11271140.CrossRefGoogle ScholarPubMed
Lai, M. C., & Baron-Cohen, S. (2015). Identifying the lost generation of adults with autism spectrum conditions. Lancet Psychiatry, 2(11), 10131027. doi:10.1016/S2215-0366(15)00277-1.CrossRefGoogle ScholarPubMed
Lord, C. (1997). Diagnostic instruments in autism spectrum disorders. In Cohen, D. J. & Volkmar, F. R. (Eds.), Handbook of autism and pervasive developmental disorders (pp. 460483). New York, NY: Wiley.Google Scholar
Lord, C., Corsello, C., Grzadzinski, R., Volkmar, F. R., Paul, R., Rogers, S. J., … Pelphrey, K. A. (2014). Diagnostic instruments in autistic spectrum disorders. In Volkmar, F., Paul, R., Rodgers, S., & Pelphrey, K. (Eds.), Handbook of autism and pervasive developmental disorders (4th ed., pp. 609660). New York, NY: Wiley.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, 306313.CrossRefGoogle ScholarPubMed
Macari, S. L., Campbell, D., Gengoux, G. W., Saulnier, C. A., Klin, A. J., & Chawarska, K. (2012). Predicting developmental status from 12 to 24 months in infants at risk for autism spectrum disorder: A preliminary report. Journal of Autism and Developmental Disorders, 42, 26362647.CrossRefGoogle ScholarPubMed
Macari, S., Powell, K., Lyons, M., Saulnier, C., Vernetti, A., & Chawarska, K. (2020). Psychological development of toddlers with ASD. In Chawarska, K., & Volkmar, F. (Eds.), Autism spectrum disorders in the first years of life: Research, assessment, and treatment (pp. 86118). New York, NY: Guilford Press.Google Scholar
Magiati, I., & Howlin, P. (2019). Adult life for people with autism spectrum disorders. In Volkmar, F. R. (Ed.), Autism and pervasive developmental disorders (pp. 220248). Cambridge: Cambridge University Press.CrossRefGoogle Scholar
Mandell, D. S., Ittenbach, R. F., Levy, S. E., & Pinto-Martin, J. A. (2007). Disparities in diagnoses received prior to a diagnosis of autism spectrum disorder. Journal of Autism and Developmental Disorders, 37(9), 17951802. doi:10.1007/s10803-006-0314-8.CrossRefGoogle ScholarPubMed
Mandy, W. P., Charman, T., & Skuse, D. H. (2012). Testing the construct validity of proposed criteria for DSM-5 autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 51, 4150. doi:10.1016/j.jaac.2011.10.013.CrossRefGoogle ScholarPubMed
Mandy, W., Chilvers, R., Chowdhury, U., Salter, G., Seigal, A., & Skuse, D. (2012). Sex differences in autism spectrum disorder: Evidence from a large sample of children and adolescents. Journal of Autism and Developmental Disorders, 42, 13041313. doi:10.1007/s10803-011-1356-0CrossRefGoogle ScholarPubMed
Manwaring, S. S., Stevens, A. L., Mowdood, A., & Lackey, M. (2018). A scoping review of deictic gesture use in toddlers with or at-risk for autism spectrum disorder. Autism & Developmental Language Impairments, 3, 17. doi:10.1177/2396941517751891.CrossRefGoogle Scholar
Matson, J. L., Kozlowski, A. M., Hattier, M. A., Horovitz, M., & Sipes, M. (2012). DSM-IV vs DSM-5 diagnostic criteria for toddlers with autism. Developmental Neurorehabilitation, 15, 185190.CrossRefGoogle ScholarPubMed
Mayes, S. D., Black, A., & Tierney, C. D. (2013). DSM-5 under-identifies PDDNOS: Diagnostic agreement between the DSM-5, DSM-IV, and checklist for autism spectrum disorder. Research in Autism Spectrum Disorders, 7, 298306.CrossRefGoogle Scholar
Mayes, S. D., Calhoun, S. L., & Crites, D. L. (2001). Does DSM-IV Asperger's disorder exist? Non-significance of early speech delay in children with autism and normal intelligence and implications for DSM-IV Asperger's disorder. Journal of Abnormal Child Psychology, 29, 263271.CrossRefGoogle Scholar
McPartland, J. C., Reichow, B., & Volkmar, F. R. (2012). Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 51, 368383.CrossRefGoogle ScholarPubMed
Meyers, J., Chavez, A., Hill, A. P., Zuckerman, K., & Fombonne, E. (2019). Epidemiological surveys of autism spectrum disorders. In Volkmar, F. (Ed.), Autism and pervasive developmental disorders (pp. 6188). Cambridge: Cambridge University Press.Google Scholar
Miller, M., Iosif, A. M., Hill, M., Young, G. S., Schwichtenberg, A. J., & Ozonoff, S. (2017). Response to name in infants developing autism spectrum disorder: A prospective study. Journal of Pediatrics, 183, 141146.e141.CrossRefGoogle ScholarPubMed
Montgomery, C. B., Allison, C., Lai, M.-C., Cassidy, S., Langdon, P. E., & Baron-Cohen, S. (2016). Do adults with high functioning autism or Asperger syndrome differ in empathy and emotion recognition? Journal of Autism and Developmental Disorders, 46, 19311940.CrossRefGoogle ScholarPubMed
National Research Council. (2001). Educating young children with autism. Washington, DC: National Academy Press.Google Scholar
Oien, R. A., Hart, L., Schjolberg, S., Wall, C. A., Kim, E. S., Nordahl-Hansen, A., … Shic, F. (2017). Parent-endorsed sex differences in toddlers with and without ASD: Utilizing the M-CHAT. Journal of Autism and Developmental Disorders, 47, 126134.CrossRefGoogle ScholarPubMed
Oien, R. A., Vambheim, S. M., Hart, L., Nordahl-Hansen, A., Erickson, C., Wink, L., … Grodberg, D. (2018). Sex-differences in children referred for assessment: An exploratory analysis of the autism mental status exam (AMSE). Journal of Autism and Developmental Disorders, 48(7), 22862292. doi:10.1007/s10803-018-3488-y.CrossRefGoogle Scholar
Ozonoff, S., & Miller, M. (2014). “The relationship between social communication disorder (SCD) and broad autism phenotype (BAP)”: Reply. Journal of the American Academy of Child & Adolescent Psychiatry, 53, 11301131.CrossRefGoogle Scholar
Ozonoff, S., Young, G. S., Belding, A., Hill, M., Hill, A., Hutman, T., … Iosif, A.-M. (2014). The broader autism phenotype in infancy: When does it emerge?. Journal of the American Academy of Child & Adolescent Psychiatry, 53(4), 398407.CrossRefGoogle ScholarPubMed
Palmer, R. F., Walker, T., Mandell, D., Bayles, B., & Miller, C. S. (2010). Explaining low rates of autism among Hispanic schoolchildren in Texas. American Journal of Public Health, 100, 270272.CrossRefGoogle ScholarPubMed
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, 185190.Google ScholarPubMed
Putnam, M. C., & Rank, B. (1953). Program of research and treatment of atypical children at the James Jackson Putnam Children's Center. Journal of Nervous and Mental Disease, 118, 369372.Google Scholar
Rank, B. (1949). Adaptation of the psychoanalytic technique for the treatment of young children with atypical development. American Journal of Orthopsychiatry, 19, 130139.CrossRefGoogle ScholarPubMed
Rank, B. (1955). Intensive study and treatment of preschool children who show marked personality deviations, or “atypical development,” and their parents. In Caplan, G. (Ed.), Emotional problems of early childhood (pp. 491501). Oxford: Basic Books.Google Scholar
Rea, K. E., Armstrong-Brine, M., Ramirez, L., & Stancin, T. (2019). Ethnic disparities in autism spectrum disorder screening and referral: Implications for pediatric practice. Journal of Developmental and Behavioral Pediatrics, 40(7), 493500. doi:10.1097/DBP.0000000000000691.CrossRefGoogle ScholarPubMed
Reichow, B., & Volkmar, F. R. (2011). Evidence-based practices in autism: Where we started. In Reichow, B., Doehring, P., Cicchetti, D., & Volkmar, F. R. (Eds.), Evidence-based practices and treatments for children with autism (pp. 324). New York, NY: Springer Science+Business Media.CrossRefGoogle Scholar
Rimland, B. (1964). Infantile autism: The syndrome and its implications for a neural theory of behavior. New York, NY: Appleton-Century-Crofts.Google Scholar
Rimland, B., & Fein, D. (1988). Special talents of autistic savants. The exceptional brain: Neuropsychology of talent and special abilities (pp. 474492). New York, NY: Guilford Press.Google Scholar
Robinson, E. B., Lichtenstein, P., Anckarsäter, H., Happé, F., & Ronald, A. (2013). Examining and interpreting the female protective effect against autistic behavior. Proceedings of the National Academy of Sciences, 110, 52585262. doi:10.1073/pnas.1211070110CrossRefGoogle ScholarPubMed
Robinson, N. M., Zigler, E., & Gallagher, J. J. (2000). Two tails of the normal curve: Similarities and differences in the study of mental retardation and giftedness. American Psychologist, 55, 14131424.CrossRefGoogle Scholar
Rutter, M. (1972). Childhood schizophrenia reconsidered. Journal of Autism and Childhood Schizophrenia, 2, 315337.CrossRefGoogle ScholarPubMed
Rutter, M. (1978). Diagnosis and definition of childhood autism. Journal of Autism and Childhood Schizophrenia, 8, 139161.CrossRefGoogle ScholarPubMed
Rutter, M. (2013). Changing concepts and findings on autism. Journal of Autism and Developmental Disorders, 43, 17491757.CrossRefGoogle ScholarPubMed
Rutter, M., & Thapar, A. (2014). Genetics of autism spectrum disorders. In Volkmar, F. R., Paul, R., Rogers, S. J., & Pelphrey, K. A. (Eds.), Handbook of autism and pervasive developmental disorders (4th ed.). John Wiley & Sons Inc. doi:10.1002/9781118911389.Google Scholar
Scheerer, M., Rothmann, E., & Goldstein, K. (1945). A case of “idiot savant”: An experimental study of personality organization. Psychological Monographs, 58(4), 163.CrossRefGoogle Scholar
Selfe, L. (1979). Nadia: A case of extraordinary drawing ability in an autistic child. New York, NY: Harcourt.Google Scholar
Sharma, S., Woolfson, L. M., & Hunter, S. C. (2012). Confusion and inconsistency in diagnosis of Asperger syndrome: A review of studies from 1981 to 2010. Autism, 16, 465486.CrossRefGoogle ScholarPubMed
Smith, I. C., Reichow, B., & Volkmar, F. R. (2015). The effects of DSM-5 criteria on number of individuals diagnosed with autism spectrum disorder: A systematic review. Journal of Autism and Developmental Disorders, 45, 25412552.CrossRefGoogle ScholarPubMed
Szatmari, P. (1991). Asperger's syndrome: diagnosis, treatment, and outcome. Psychiatric Clinics of North America, 14, 8193.CrossRefGoogle Scholar
Tager-Flusberg, H. (2018). Why no one needs a diagnosis of 'social communication disorder'. Spectrum (April 17). Retrieved from https://www.spectrumnews.org/opinion/viewpoint/no-one-needs-diagnosis-social-communication-disorder/.Google Scholar
Tek, S., & Landa, R. J. (2012). Differences in autism symptoms between minority and non-minority toddlers. Journal of Autism and Developmental Disorders, 42, 19671973.CrossRefGoogle ScholarPubMed
Towbin, K. E. (1997). Pervasive developmental disorder not otherwise specified. In Cohen, D. J. & Volkmar, F. R. (Eds.), Handbook of autism and pervasive developmental disorders (pp. 123147). New York, NY: Wiley.Google Scholar
Towbin, K. E. (2014). Pervasive developmental disorder not otherwise specified. In Volkmar, F. R., Rogers, S. J., Paul, R. & Pelphrey, K. A. (Eds.), Handbook of autism and pervasive developmental disorders (Vol. 1, pp. 165200). Hoboken, NJ: Wiley.Google Scholar
Treffert, D. A. (1988). The idiot savant: A review of the syndrome. American Journal of Psychiatry, 145, 563572.Google ScholarPubMed
Tufan, E. (2014). The relationship between social communication disorder (SCD) and broad autism phenotype (BAP). Journal of the American Academy of Child & Adolescent Psychiatry, 53, 1130.CrossRefGoogle Scholar
Vanegas, S. B., Magaña, S., Morales, M., & McNamara, E. (2016). Clinical validity of the ADI-R in a US-based Latino population. Journal of Autism and Developmental Disorders, 46, 16231635. doi:10.1007/s10803-015-2690-4CrossRefGoogle Scholar
Vivanti, G., Yerys, B. E., & Salomone, E. (2019). Psychological factors in autism spectrum disorders. In Volkmar, F. (Ed.), Autism and the pervasive developmental disorders (pp. 6189). Cambridge: Cambridge University Press.CrossRefGoogle Scholar
Volkmar, F. R. (1987). Diagnostic issues in the pervasive developmental disorders. Journal of Child Psychology and Psychiatry & Allied Disciplines, 28, 365369.CrossRefGoogle ScholarPubMed
Volkmar, F. R., Burack, J. A., & Cohen, D. J. (1990). Deviance and developmental approaches in the study of autism. In Hodapp, R. M. & Burack, J. A. (Eds.), Issues in the developmental approach to mental retardation (pp. 246271). New York, NY: Cambridge University Press.CrossRefGoogle Scholar
Volkmar, F. R., & Cohen, D. J. (1986). Current concepts: Infantile autism and the pervasive developmental disorders. Journal of Developmental & Behavioral Pediatrics, 7, 324329.CrossRefGoogle ScholarPubMed
Volkmar, F. R., Klin, A., Siegel, B., Szatmari, P., Lord, C., Campbell, M., … Kline, W. (1994). Field trial for autistic disorder in DSM-IV. American Journal of Psychiatry, 151, 13611367.Google ScholarPubMed
Volkmar, F. R., & Nelson, D. S. (1990). Seizure disorders in autism. Journal of the American Academy of Child & Adolescent Psychiatry, 29, 127129.CrossRefGoogle ScholarPubMed
Volkmar, F. R., Szatmari, P., & Sparrow, S. S. (1993). Sex differences in pervasive developmental disorders [Research Support, U.S. Gov't, P.H.S.]. Journal of Autism & Developmental Disorders, 23(4), 579591.CrossRefGoogle Scholar
Volkmar, F. R., Woodbury-Smith, M., Macari, S., & Oien, R. A. (in press). Diagnostic issues and complexities in autism and related conditions. In McPartland, J., & Stavropoulos, D. (Eds.), Differential diagnosis in autism spectrum disorder. New York, NY: Oxford University Press.Google Scholar
Weisz, J. R., & Zigler, E. (1979). Cognitive development in retarded and nonretarded persons: Piagetian tests of the similar sequence hypothesis. Psychological Bulletin, 86, 831851.CrossRefGoogle ScholarPubMed
White, S. W., Ollendick, T. H., & Bray, B C. (2011). College students on the autism spectrum: Prevalence and associated problems. Autism: The International Journal of Research and Practice, 15(6), 683701. doi:10.1177/1362361310393363.CrossRefGoogle ScholarPubMed
Wiltshire, S. (1988). Cities. London: Orion Publishing Co.Google Scholar
Windham, G. C., Smith, K. S., Rosen, N., Anderson, M. C., Grether, J. K., Coolman, R. B., & Harris, S. (2014). Autism and developmental screening in a public, primary care setting primarily serving Hispanics: Challenges and results. Journal of Autism and Developmental Disorders, 44, 16211632.CrossRefGoogle Scholar
Wing, L. (1980). Childhood autism and social class: A question of selection? British Journal of Psychiatry, 137, 410417.CrossRefGoogle Scholar
Wing, L. (1981). Asperger's syndrome: A clinical account. Psychological Medicine, 11, 115129.CrossRefGoogle ScholarPubMed
Wing, L. (1989a). Autistic adults. In Gillberg, C. (Ed.), Diagnosis and treatment of autism (pp. 419432). New York, NY: Plenum Press.CrossRefGoogle Scholar
Wing, L. (1989b). The diagnosis of autism. In Gillberg, C. (Ed.), Diagnosis and treatment of autism (pp. 522). New York, NY: Plenum Press.CrossRefGoogle 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, 1129.CrossRefGoogle ScholarPubMed
Woodbury-Smith, M., Klin, A., & Volkmar, F. (2005). Asperger's syndrome: A comparison of clinical diagnoses and those made according to the ICD-10 and DSM-IV. Journal of Autism and Developmental Disorders, 35(2), 235240.CrossRefGoogle ScholarPubMed
Woodbury-Smith, M., & Scherer, S. W. (2018). Progress in the genetics of autism spectrum disorder. Developmental Medicine & Child Neurology, 60(5), 445451. doi: 10.1111/dmcn.13717.CrossRefGoogle ScholarPubMed
World Health Organization. (1994). Diagnostic criteria for research. Geneva: Author.Google Scholar
Yuenn, R. K. C., Szatmari, P., & Vorstman, J. A. S. (2019). The genetics of autism spectrum disorders. In Volkmar, F. R. (Ed.), Autism and the pervasive developmental disorders (pp. 112128). Cambridge: Cambridge University Press.CrossRefGoogle Scholar

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Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5
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