Journal of Autism and Developmental Disorders

, Volume 29, Issue 6, pp 435–438 | Cite as

Research on Screening and Diagnosis in Autism: A Work in Progress



In June 1998, the National Institutes of Health Autism Coordinating Committee (NIH/ACC) invited representatives of 13 major medical and other professional academies and associations and six national autism parent research organizations to review research data on screening and diagnosis of autism spectrum disorders. Ten review papers and more than 4,000 publications were consulted in this effort. This paper highlights some promising areas for research identified in this process. One of the highest priorities is the search for the ultimate diagnostic indicator, a biological marker(s), for example, genetic, metabolic, immunologic, neurologic, that will distinguish autism unequivocally from other developmental disabilities. In the interim, research on infant screening and diagnosis might lower the threshold age for diagnosis to 8–12 months. The role of sensory-motor disorders in early diagnosis needs further research. Earlier and better diagnosis of co-occurring, potentially treatable disorders, including epileptic and epileptiform disorders, has implications both for diagnosis and treatment. Pharmacogenetic and pharmacogenomic research strategies could help diagnose subtypes and responders versus nonresponders to potential treatments. Better endpoints and outcome measures are needed, including improved procedures for cognitive and neuropsychological testing, more knowledge about verbal and nonverbal communication milestones, and less invasive and more sensitive neuroimaging measures. Critical questions remain regarding regression after apparently normal development, and about possible environmental precipitants. Finally, field trials of the reliability and validity of screening and diagnosis using the newly developed practice guidelines are needed.

Screening diagnosis autism 


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  1. Brown, E., Dawson, G., Osterling, J., & Dinno, J. (1998). Early identification of 8–10 month old infants with autism based on observations from home videotapes. International Society for Infant Studies, Atlanta, GA (abstract).Google Scholar
  2. Charman, T., Swettenham, J., Baron-Cohen, S., Cox, A., Baird, G., & Drew, A. (1997). Infants with autism: An investigation of empathy, pretend play, joint attention, and imitation. Developmental Psychology, 33, 781–789.Google Scholar
  3. Cox, A., Klein, K., Charman, T., Baird, G., Baron-Cohen, S., Swettenham, J., Drew, A., Wheelwright, S., & Nightengale, N. (1999). The early diagnosis of autism spectrum disorders: Use of the Autism Diagnostic Interview-Revised, at 20 months and 42 months of age. Journal of Child Psychology and Psychiatry.Google Scholar
  4. Filipek, P. A., & (in alphabetical order) Accardo, P. J., Baranek, G. T., Cook, E. H., Jr., Dawson, G., Gordon, B., Gravel, J., Johnson, M., Kallen, R., Levy, S. E., Minshew, N., Prizant, B. M., Rapin, I., Rogers, S., Stone, W. L., Teplin, S., Tuchman, R. F., & Volkmar, F. R. (1999). Practice parameter: screening and diagnosis of autistic spectrum disorders (A Multi-Society Consensus Statement). Neurology.Google Scholar
  5. Fombonne, E., E., Roge, B., Claverie, J., Courty, S., & Fremolle, J. (1999) Microcephaly and Macrocephaly in Autism. Journal of Autism and Developmental Disorders, 29, 113–120.Google Scholar
  6. Mars, A. E., Mauk, J. E., & Dowrick, P. (1998). Symptoms of pervasive developmental disorders as observed in prediagnostic home videos of infants and toddlers. Journal of Pediatrics, 132, 500–504.Google Scholar
  7. Osterling, J., & Dawson, G. (1994). Early recognition of children with autism: A study of first birthday home videotapes. Journal of Autism and Developmental Disorders, 24, 247–257.Google Scholar
  8. Stone, W. L., Lee, E. B., Asdhord, L., Brissie, J., Hepburn, S. L., Coonrod, E. E., Weiss, B. H. (1999). Can autism be diagnosed accurately in children under three years? Journal of Child Psychology and Psychiatry, 40, 219–226.Google Scholar
  9. Volkmar, F. R., Klin, A., Siegel, B., Szatmari, P., Lord, C., Campbell, M., Freeman, B. J., Cicchetti, D. V., Rutter, M., Kline, W., et al. (1994). Field trial for autistic disorder in DSM-IV. American Journal of Psychiatry, 151, 1361–1367.Google Scholar
  10. Volkmar, F. R., & Nelson, D. S. (1990). Seizure disorders in autism. Journal of the American Academy of Child and Adolescent Psychiatry, 29(1), 127–129.Google Scholar
  11. Volkmar, F. R., Cook, E., Pomeroy, J., Realmuto, G., & Tanguay, P. (1999). Practice parameters for the assessment and treatment of children and adolescents with autism and pervasive developmental disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 38, 32s–54s.Google Scholar

Copyright information

© Plenum Publishing Corporation 1999

Authors and Affiliations

  1. 1.National Institute of Child Health and Human DevelopmentBethesda
  2. 2.National Institute of Neurological Disorders and Stroke, National Institutes of HealthBethesda

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