Political Activities

Written testimony of

Geraldine Dawson, Ph.D.,
Professor of Psychology, University of Washington

Public Health Subcommittee, United States Senate

September 16, 1999

"Thank you for this opportunity to tell you about this puzzling and tragic disorder we call autism. Autism is a severe and life long developmental disorder. People with autism have profound difficulties relating socially and communicating with others. Autism is part of a larger group of disorders referred to as the "autism spectrum disorders" or the pervasive developmental disorders. Once thought to be rare, we now know that autism affects one in a thousand persons and the broader category of autism spectrum disorders affects one in 500 (Bryson, Clark, & Smith, 1988; Burd & Kerbeshian, 1988; Cialdella & Mameile, 1989; Tanoue, Oda, Asano, & Kawashima, 1988; Bryson, 1996). Thus, autism is more prevalent than Down syndrome, deafness, or childhood cancer.

Autism has a devastating effect on the person with autism and his or her family and puts a tremendous burden on the resources of schools and health care agencies. Many individuals with autism also are mentally-retarded and suffer from other medical conditions such as seizures (Bryson, Clark & Smith, 1988; Steffenburg & Gillberg, 1986). Many have severe behavioral problems, such as self-injurious and aggressive behavior. Most require life-long, intensive care and assistance (Volkmar & Nelson, 1990).

Yet there is hope. The last two decades have witnessed tremendous progress in our ability to detect and treat autism, and in our ability to understand the causes of autism. Research has allowed us to develop methods for diagnosing autism at a very early age (Filipek et al., in press), and this offers hope for early treatment. Indeed, studies have shown that, if intensive behavioral treatment is started by the time the child is two-three years of age, the child has a 50% chance of dramatic improvement (Dawson & Osterling, 1997). That is, the child is likely to have a normal IQ, to develop communicative speech, and to attend a regular classroom. Thus, we urgently need more funding to support the development of early screening and diagnostic methods and to continue to improve our early behavioral intervention methods. Remarkably, despite the fact that autism can be detected by 18 months of age (Baron-Cohen, Allen, & Gillberg, 1992; Baron-Cohen et al., 1996), the average age of diagnosis of autism is close to 4 years of age (Siegel, Pliner, Eschler, & Elliot, 1988). This means that many children go undetected until they have passed the critical years when they are most likely to respond to early behavioral intervention. Public awareness campaigns and screening methods are critically needed so that these children can have the best chance for success.

But early detection and behavioral intervention are not enough for many children. Approximately 50% of children with autism have poor outcomes despite intensive early intervention, and even those who do respond well often continue to have significant behavioral disturbances that affect their ability to form relationships, work, and live independently (Dawson & Osterling, 1997). Thus, we need to turn to medical science to find a treatment, and hopefully a cure. We are making great strides in understanding the cause of autism, and there is hope that scientific breakthroughs will eventually lead to an effective medical treatment or cure for autism (Bailey et al., 1996). With increased funding for research, this is not unrealistic given our current state of knowledge. The technological advances of the last few decades have allowed us to gain insights into the brain mechanisms and causes of autism. Scientific evidence indicates that autism involves specific areas of the brain that are responsible for language, memory, and socialization (Bailey et al., 1996; Dawson et al., 1998). Autopsy studies show cellular abnormalities in the cerebellum, hippocampus, and amygdala, areas of the brain that are essential for social and cognitive development (Bauman & Kemper, 1994). Animal studies (Bachevalier, 1994) also support involvement of these areas of the brain. In monkeys, early damage to these brain areas results in severe and persistent memory and social impairments. Evidence suggests that the brain abnormalities responsible for autism occur very early in development, probably during the first trimester of pregnancy (Rodier, 1998).

Magnetic resonance imaging studies have consistently shown that persons with autism also tend to have unusually large brains (Piven et al., 1995). These findings suggest that there are abnormalities in what is referred to as "synaptic pruning." In normal development, the brain initially overproduces neurons and neuronal connections (synapses). During the first several years of life, genetic and experiential mechanisms allow the brain to keep those connections that are useful and to lose those that are not useful. In autism, we suspect that this natural brain sculpting processing is not occurring normally. Since much of the natural loss of neurons and synapses is genetically programmed, this abnormality points to a genetic cause of autism.

New technologies have allowed us to see how these abnormalities affect the functioning of the brain in a person with autism. Studies using techniques such as functional magnetic resonance imaging have demonstrated that areas such as the amygdala and other brain regions specialized for social information are indeed functioning abnormally (Gillberg et al., 1993; George et al., 1992; Zilbovicius et al., 1995). When a normal person is shown a picture of a loved one, areas of the brain that are specialized for processing familiar faces light up. But, when a person with autism is shown a picture of a loved one, these areas fail to show the normal activity patterns (Dawson, 1999). Such brain imaging studies, which are costly to conduct, are essential for our understanding of the nature of brain dysfunction in autism. These methods are rapidly developing and will surely lead to important new insights in the future.

Perhaps the most promising line of research is in the area of genetics. Heritability estimates for autism are extremely high, ranging from 91-93% for the liability of autism (Bailey et al., 1995). If a family has one child with autism, the chances of having another child with autism is 50-100 times greater than that of the general population, about 1 in 20 (Bailey et al., 1995; Rutter et al., 1990). The chances of their second child having a social or language disability is even higher, approximately 10-20% (Bailey et al., 1996). Several research teams are actively researching the genes for autism, and we have discovered that the pattern of inheritance is complex. The data strongly suggest the operation of several interacting genes (Risch et al., 1999). To find the genes for a complex disorder such as autism, researchers must test hundreds, perhaps even thousands, of families. Such research is extremely labor-intensive and costly. Yet, compared to the immeasurable costs of having autism, and to the financial costs of providing life long care for an individual with autism, this is a very valuable use of our financial and scientific resources. We can discover the genes that cause autism if we are given the resources to do so. Information about the genes that cause autism, combined with information about the brain mechanisms responsible for autism, is very likely to lead to a medical treatment that could greatly improves the lives of persons with autism and their families, and possibly to a cure.

One scientist or even one field of science will not be able to discover a treatment or cure for autism. This discovery will depend upon the integration of skills and knowledge from several different disciplines. Genetic research depends upon the science of molecular biology, mathematics, and behavior. Each one of these disciplines provides a key part of the complex puzzle. Understanding the relation between a genetic mechanisms and brain requires the additional perspective of developmental neurobiology.

Indeed, there are three key ingredients that will be needed for progress. First, interdisciplinary research will depend upon funding of clinical research centers that involve groups of scientists from different disciplines who can readily communicate and work together. Second, it is important for such centers to offer health care and referrals to families. We cannot expect families to shoulder the burden of participation in studies without responding to their immediate needs and concerns. History has shown us that when we combine cutting edge research with state of the art health care, we form a powerful partnership with families that is essential for scientific progress. Moreover, because such centers are capable of responding rapidly to new scientific breakthroughs, they are the first to translate science into practice, and in this way, can serve as models for the larger community in the delivery of state of the art care.

The third ingredient that is essential for progress is a mechanism for communicating knowledge to the broader community. Currently, many persons with autism do not reach their potential simply because those serving them are unaware of the current knowledge about how best to treat autism or lack the skills to carry out these interventions. Thus, a key function of a clinical research center should be to provide education and training, public awareness, and outreach so that the scientific advances that are made can readily be translated into action.

I end by simply saying that there is perhaps nothing more heartbreaking than having a child who does not look at you, who does not return your embrace, and who cannot communicate his feelings and needs to you. It is within our power to help these families and children. We have the scientific and clinical expertise needed to make a real difference, but we need the funding to actualize what we can now only envision. Thank you very much for your time and attention."


References

Bailey, A., et al (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol. Med. 25; 63-77.

Bailey, A., Phillips, W., and Rutter, W. (1996). Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. Journal of Child Psychology and Psychiatry, 37: 89-126.

Baron-Cohen, S., Allen, J. & Gillberg, C. (1992). Can autism be detected at 18 months? The needle, the haystack, and the CHAT. British Journal of Psychiatry, 161, 839-843.

Baron-Cohen, S., Cox, A., Baird, G., Swettenham, J., Nightingale, N., Morgan, K., Drew, A., & Charman, T. (1996). Psychological markers in the detection of autism in infancy in a large population. British Journal of Psychiatry, 168, 1-6.

Bauman, M. & Kemper, AT. (1994). Neuroanatomic observations of the brain in autistm. In M.L. Bauman & T.L. Kemper (Eds.), The neurology of autism (pp.119-145). Baltimore: Johns Hopkins University Press.

Bryson, S. E. (1996) Brief report: Epidemiology of autism. Journal of Autism and Development Disorders, 26; 165-166

Bryson, et al. (1988). First report of a Canadian epidemiological study of autistic syndromes. Journal of Child Psychology and Psychiatry and Allied Discilplines, 29; 433-445.

Burd, L., & Kerbeshian, J. (1988). A North Dakota prevalence study of schizophrenia presenting in childhood. Journal of the American Academy of Child and Adolescent Psychiatry, 26, 347-350.

Cialdella & Mamelle (1989). An epidemiological study of infantile autism in a French Department (Hone): A research note. Journal of Child Psychology and Psychiatry and Allied Disciplines, 30; 165-175.

Dawson, G. (1999) The Phenotypes of autism. Presented at the 1999 Meeting of the Sackler-McDonnell Foundation Conference on Genetics. Irvine, CA.

Dawson, G. & Osterling, J. (1997). Early intervention in autism: Effectiveness and common elements of current approaches. In Guralnick (Ed.) The effectiveness of early intervention: Second generation research. (pp. 307-326) Baltimore: Brookes.

George, M., et al (1992). Cerebral blood flow abnormalities in adults with infantile autism. Journal of Nervous and Mental Disease, 180, 413-417.

Gillberg, I.C., Bjure, J., Uvebrant, P., Vestergren, E. & Gillberg, C. (1993). SPECT (Single photon emission computed tomography) in 31 children and adolescents with autism and autistic-like conditions. European Child and Adolescent Psychiatry, 2, 50-59.

Filipek, P.A., Accardo, P.J., Baranek, G.T., Cook, E.H., Dawson, G., Gordon, B., Gravel, J.S., Johnson, C.P., Kallan, R.J., Levy, S.E., Minshew, N.J., Prizant, B.M., Rapin, I., Rogers, S.J., Stone, W., Teplin, S., Tuchman, R.F., & Volkmar, F.R. Practice Parameters: The screening and diagnosis of autistic spectrum disorders. Annuls of the American Academy of Neurology, in press.

Piven, J., Arndt, S., Bailey, J., Havercamp, S., Andreasen, N.C. & Palmer, P. (1995). An MRI study of brain size in autism. American Journal of Psychiatry, 152, 1145-1149.

Risch, N. et al., (1999) A genomic screen of autism: Evidence for a multilocus etiology. American Journal of Human Genetics, 65: 493-507.

Rodier, P.M. (1998). Neuroteratology of autism. In W. Slikker and L.W. Chang (Eds.) Handbook of Developmental Neurotoxicology. Academic Press, New York. pp. 661-672.

Rutter, M., MacDonald, H., LeCouteur, A., Harington, R., Bolton, P.. & Bailey, A. (1990). Genetic factors in child psychiatric disorders: Empirical findings. Journal of Child Psychology and Psychiatry, 31, 39- 83.

Siegel, B. Pliner, C. Eschler, J. & Elliot, G.R. (1988). How children with autism are diagnosed: Difficulties in identification of children with multiple developmental delays. Developmental and Behavioral Pediatrics, 9, 199-204.

Steffenburg & Gillberg (1986). Autism and autistic-like conditions in Swedish ruaral and urban areas: A population study. Bristich Journal of Psychiatry, 149; 81-87.

Tanoue, Oda, Asano, & Kawashima (1988). Epidemiology of infantile autism in southern Ibaraki, Japan: Difference in prevalence in birth cohorts. Journal of Autism and Developmental Disorders, 18; 155-166.

Volkmar & Nelson (1990). Seizure disorders in autism. Journal of the American Academy of Child and Adolescent Psychiatry, 29; 127-129.

Zilbovicius, M. et al(1995). Delayed maturation of the frontal coretex in childhood autism. American Journal of Psychiatry, 152, 248-252.


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