Research into the causes, the diagnosis, and the treatment of autism spectrum disorders has advanced in tandem. With new well-researched standardized diagnostic tools, ASD can be diagnosed at an early age. And with early diagnosis, the treatments found to be beneficial in recent years can be used to help the child with ASD develop to his or her greatest potential.

In the past few years, there has been public interest in a theory that suggested a link between the use of thimerosal, a mercury-based preservative used in the measles-mumps-rubella (MMR) vaccine, and autism. Although mercury is no longer found in childhood vaccines in the United States, some parents still have concerns about vaccinations. Many well-done, large-scale studies have now been done that have failed to show a link between thimerosal and autism. A panel from the Institute of Medicine is now examining these studies, including a large Danish study that concluded that there was no causal relationship between childhood vaccination using thimerosal-containing vaccines and the development of an autism spectrum disorder, 27 and a U.S. study looking at exposure to mercury, lead, and other heavy metals.

Research on the Biologic Basis of ASD

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Because of its relative inaccessibility, scientists have only recently been able to study the brain systematically. But with the emergence of new brain imaging tools-computerized tomography (CT), positron emission tomography (PET), single photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI), study of the structure and the functioning of the brain can be done. With the aid of modern technology and the new availability of both normal and autism tissue samples to do postmortem studies, researchers will be able to learn much through comparative studies.

Postmortem and MRI studies have shown that many major brain structures are implicated in autism. This includes the cerebellum, cerebral cortex, limbic system, corpus callosum, basal ganglia, and brain stem. 28 Other research is focusing on the role of neurotransmitters such as serotonin, dopamine, and epinephrine.

Image of major brain structures implicated in autism

Research into the causes of autism spectrum disorders is being fueled by other recent developments. Evidence points to genetic factors playing a prominent role in the causes for ASD. Twin and family studies have suggested an underlying genetic vulnerability to ASD. 29 To further research in this field, the Autism Genetic Resource Exchange, a project initiated by the Cure Autism Now Foundation, and aided by an NIMH grant, is recruiting genetic samples from several hundred families. Each family with more than one member diagnosed with ASD is given a 2-hour, in-home screening. With a large number of DNA samples, it is hoped that the most important genes will be found. This will enable scientists to learn what the culprit genes do and how they can go wrong.

Another exciting development is the Autism Tissue Program, supported by the Autism Society of America Foundation, the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California, Davis, and the National Alliance for Autism Research. The program is aided by a grant to the Harvard Brain and Tissue Resource Center, funded by the National Institute of Mental Health (NIMH) and the National Institute of Neurological Disorders and Stroke (NINDS). Studies of the postmortem brain with imaging methods will help us learn why some brains are large, how the limbic system develops, and how the brain changes as it ages. Tissue samples can be stained and will show which neurotransmitters are being made in the cells and how they are transported and released to other cells. By focusing on specific brain regions and neurotransmitters, it will become easier to identify susceptibility genes.

Recent neuroimaging studies have shown that a contributing cause for autism may be abnormal brain development beginning in the infant’s first months. This “growth dysregulation hypothesis” holds that the anatomical abnormalities seen in autism are caused by genetic defects in brain growth factors. It is possible that sudden, rapid head growth in an infant may be an early warning signal that will lead to early diagnosis and effective biological intervention or possible prevention of autism. 30

For detailed information on autism spectrum disorders research, see NIMH research fact sheet, Autism Spectrum Disorders Research.

The Children’s Health Act of 2000-What It Means to Autism Research

The Children’s Health Act of 2000 was responsible for the creation of the Interagency Autism Coordinating Committee (IACC), a committee that includes the directors of five NIH institutes-the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Deafness and Other Communication Disorders (NIDCD), the National Institute of Child Health and Human Development (NICHD), and the National Institute of Environmental Health Sciences (NIEHS)-as well as representatives from the Health Resource Services Administration, the National Center on Birth Defects and Developmental Disabilities (a part of the Centers for Disease Control), the Agency for Toxic Substances and Disease Registry, the Substance Abuse and Mental Health Services Administration, the Administration on Developmental Disabilities, the Centers for Medicare and Medicaid Services, the U.S. Food and Drug Administration, and the U.S. Department of Education. The Committee, instructed by the Congress to develop a 10-year agenda for autism research, introduced the plan, dubbed a “matrix” or a “roadmap,” at the first Autism Summit Conference in November 2003. The roadmap indicates priorities for research for years 1 to 3, years 4 to 6, and years 7 to 10.

The five NIH institutes of the IACC have established the Studies to Advance Autism Research and Treatment (STAART) Network, composed of eight network centers. They will conduct research in the fields of developmental neurobiology, genetics, and psychopharmacology. Each center is pursuing its own particular mix of studies, but there also will be multi-site clinical trials within the STAART network.

The STAART centers are located at the following sites:

  • University of North Carolina, Chapel Hill
  • Yale University, Connecticut
  • University of Washington, Seattle
  • University of California, Los Angeles
  • Mount Sinai Medical School, New York
  • Kennedy Krieger Institute, Maryland
  • Boston University, Massachusetts
  • University of Rochester, New York

A data coordination center will analyze the data generated by both the STAART network and the Collaborative Programs of Excellence in Autism (CPEA). This latter program, funded by the NICHD and the NIDCD Network on the Neurobiology and Genetics of Autism, consists of 10 sites. The CPEA is at present studying the world’s largest group of well-diagnosed individuals with autism characterized by genetic and developmental profiles.

The CPEA centers are located at:

  • Boston University, Massachusetts
  • University of California, Davis
  • University of California, Irvine
  • University of California, Los Angeles
  • Yale University, Connecticut
  • University of Washington, Seattle
  • University of Rochester, New York
  • University of Texas, Houston
  • University of Pittsburgh, Pennsylvania
  • University of Utah, Salt Lake City

The NIEHS has programs at:

  • Center for Childhood Neurotoxicology and Assessment, University of Medicine & Dentistry, New Jersey * The Center for the Study of Environmental Factors in the Etiology of Autism, University of California, Davis

References

1 American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-IV-TR (fourth edition, text revision). Washington DC: American Psychiatric Association, 2000.

2 Filipek PA, Accardo PJ, Baranek GT, Cook Jr. EH, Dawson G, Gordon B, Gravel JS, Johnson CP, Kellen RJ, Levy SE, Minshew NJ, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin S, Tuchman RF, Volkmar FR. The screening and diagnosis of autism spectrum disorders. Journal of Autism and Developmental Disorders, 1999; 29(2): 439-484.

3 Newschaffer CJ (Johns Hopkins Bloomberg School of Public Health). Autism Among Us: Rising Concerns and the Public Health Response [Video on the Internet]. Public Health Training Network, 2003 June 20. Available from: http://www.publichealthgrandrounds.unc.edu/autism/webcast.htm.

4 Volkmar FR. Medical Problems, Treatments, and Professionals. In: Powers MD, ed. Children with Autism: A Parent’s Guide, Second Edition. Bethesda, MD: Woodbine House, 2000; 73-74.

5 Powers MD. What Is Autism? In: Powers MD, ed. Children with Autism: A Parent’s Guide, Second Edition. Bethesda, MD: Woodbine House, 2000, 28.

6 Smalley SI, Autism and tuberous sclerosis. Journal of Autism and Developmental Disorders, 1998; 28(5): 407-414.

7 Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook Jr. EH, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, Volkmar FR. Practice parameter: screening and diagnosis of autism. Neurology, 2000; 55: 468-479.

8 Baird G, Charman T, Baron-Cohen S, Cox A, Swettenham J, Wheelwright S, Drew A. A screening instrument for autism at 18 months of age: A 6-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 2000; 39: 694-702.

9 Robbins DI, Fein D, Barton MI, Green JA. The modified checklist for autism in toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders, 2001; 31(2): 149-151.

10 Stone WL, Coonrod EE, Ousley OY. Brief report: screening tool for autism in two-year-olds (STAT): development and preliminary data. Journal of Autism and Developmental Disorders, 2000; 30(6): 607-612.

11 Berument SK, Rutter M, Lord C, Pickles A, Bailey A. Autism Screening Questionnaire: diagnostic validity. British Journal of Psychiatry, 1999; 175: 444-451.

12 Ehlers S, Gillberg C, Wing L. A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children. Journal of Autism and Developmental Disorders, 1999; 29(2): 129-141.

13 Garnett MS, Attwood AJ. The Australian scale for Asperger’s syndrome. In: Attwood, Tony. Asperger’s Syndrome: A Guide for Parents and Professionals. London: Jessica Kingsley Publishers, 1997.

14 Scott FJ, Baron-Cohen S, Bolton P, Brayne C. The Cast (Childhood Asperger Syndrome Test): preliminary development of a UK screen for mainstream primary-school-age children. Autism, 2002; 2(1): 9-31.

15 Tadevosyan-Leyfer O, Dowd M, Mankoski R, Winklosky B, Putnam S, McGrath L, Tager-Flusberg H, Folstein SE. A principal components analysis of the autism diagnostic interview-revised. Journal of the American Academy of Child and Adolescent Psychiatry, 2003; 42(7): 864-872.

16 Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 2000; 30(3): 205-230.

17 Van Bourgondien ME, Marcus LM, Schopler E. Comparison of DSM-III-R and childhood autism rating scale diagnoses of autism. Journal of Autism and Developmental Disorders, 1992; 22(4): 493-506.

18 Department of Health and Human Services. Mental Health: A Report of the Surgeon General. Rockville, MD: Department of Health and Human Services, Substance Abuse and Mental Health Services Administration, Center for Mental Health Services, National Institute of Mental Health, 1999.

19 Lovaas OI. Behavioral treatment and normal educational and intellectual functioning in young autistic children. Journal of Consulting and Clinical Psychology, 1987; 55: 3-9.

20 McEachin JJ, Smith T, Lovaas OI. Long-term outcome for children with autism who received early intensive behavioral treatment. American Journal on Mental Retardation, 1993; 97: 359-372.

21 Couper JJ, Sampson AJ. Children with autism deserve evidence-based intervention. Medical Journal of Australia, 2003; 178: 424-425.

22 American Academy of Pediatrics Committee on Children With Disabilities. The pediatrician’s role in the diagnosis and management of autistic spectrum disorder in children. Pediatrics, 2001; 107(5): 1221-1226.

23 Dunlap G, Foxe L. Teaching students with autism. ERIC EC Digest #E582, 1999 October.

24 Autism Society of America. Biomedical and Dietary Treatments (Fact Sheet) [cited 2004], 2003. Bethesda, MD: Autism Society of America. Available from: http://www.autism-society.org/site/PageServer?pagename=BiomedicalDietaryTrea tments.

25 McDougle CJ, Stigler KA, Posey DJ. Treatment of aggression in children and adolescents with autism and conduct disorder. Journal of Clinical Psychiatry, 2003; 64 (supplement 4): 16-25.

26 Research Units on Pediatric Psychopharmacology Network. Risperidone in children with autism and serious behavioral problems. New England Journal of Medicine, 2002; 347(5): 314-321.

27 Hviid A, Stellfeld M, Wohlfahrt J, Melbye M. Association between thimerosal-containing vaccine and autism. JAMA, 2003; 290(13): 1763-1766.

28 Akshoomoff N, Pierce K, Courchesne E. The neurobiological basis of autism from a developmental perspective. Development and Psychopathology, 2002; 14: 613-634.

29 Korvatska E, Van de Water J, Anders TF, Gershwin ME. Genetic and immunologic considerations in autism. Neurobiology of Disease, 2002; 9: 107-125.

30 Courchesne E. Carper R, Akshoomoff N. Evidence of brain overgrowth in the first year of life in autism. JAMA, 2003; 290(3): 337-344.

This brochure was written by Margaret Strock, Office of Communications, NIMH. Scientific information and review were provided by NIMH staff members Stephen Foote, MD; Ann Wagner, PhD; Audrey Thurm, PhD; Benjamin Vitiello, MD; Douglas Meinecke, PhD; and Judith Cooper, PhD, National Institute on Deafness and Other Communication Disorders. Editorial assistance was provided by Ruth Dubois and Antoinette Cooper.


All material in this brochure is in the public domain and may be reproduced or copied without permission from the Institute. Citation of the National Institute of Mental Health as the source is appreciated.

NIH Publication No.04-5511 April 2004

Citation for this publication:

Strock, Margaret (2004). Autism Spectrum Disorders (Pervasive Developmental Disorders). NIH Publication No. NIH-04-5511, National Institute of Mental Health, National Institutes of Health, U.S. Department of Health and Human Services, Bethesda, MD, 40 pp.

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