A Psychiatrist's Journey from Parent to Founder of Research Advocacy Organization

In 1988 I was working as a general adult psychiatrist with a specialty in addictions. One day, a newly referred patient came to my office accompanied by his mother. Although he was well groomed, he was distinctly "nerdy." When I inquired about his chief complaint, his mother quickly explained that, although he had graduated from community college, he was unable to secure a job interview due to his obsessing on the details of his resume.

I noted that her son spoke in a bizarre manner, using many idioms incorrectly. His mother noted my apparent distress and stated matter-of-factly that her son was autistic-as if she had a long history of explaining his behaviors to professionals. This young man was being medicated with thioridazine (Mellaril), although she did not feel it was very helpful.We concluded our meeting by scheduling an appointment some months in the future. Without a calendar, my patient immediately identified the day of the week of each proposed date. When they left my office, I felt disturbed and unsettled by my lack of knowledge regarding this patient's disorder. Nowhere in my medical training had I ever seen an individual within the autism spectrum. My image of an individual with autism-I suppose from some picture in a medical textbook-was limited to a three-year-old who did nothing but spin or rock.

Not long after this incident, my 22-month-old son was diagnosed as having autism, often referred to as pervasive developmental disorder. I increased my efforts to learn all that I could about autism and related disorders.

The medical and, specifically, the psychiatric literature was daunting. The words "hopeless" and "no known treatment" occurred over and over again. Psychiatric articles suggested that haloperidol (Haldol) was the most effective medication, but about one-third of the children on it evidenced tardive dyskinesia after one year. Other articles declared that no medications worked and that it was best not to medicate. Visits to teaching hospitals yielded confirmation of the diagnosis with no pretense of having anything else to offer.

We were referred to the educational system, where it was heartening to learn that at least there had been progress made by behavioral psychologists who had developed educational methodologies which can have a significant impact on many children's outcome. However, there were only a few groups across the country undertaking research into the causes, prevention, treatment and cure of autism. My trip to the 1989 American Psychiatric Association Annual Meeting uncovered only one or two poster sessions on autism. I found a similar dearth of information and research at the 1993 Society for Neurosciences annual meeting.

Clinically Neglected

For several years, I pondered why there was such a lack of scientific interest in this disorder. Clinically, autism is a far from trivial disorder. In fact, it is fair to say that it is every bit as devastating as the worst of the psychiatric diseases. It strikes children between the ages of 12 and 36 months-sometimes manifesting with a sudden and rapid disappearance of early language acquisition. It is a lifelong disorder in which cute-often beautiful-children grow into very impaired adults. A large segment of the autistic community never acquires (or loses) all functional language and, even for those that do develop language, it is often unusual and alienating.

Socials skills are significantly impaired even in the highest functioning individuals with autism. A rigidity or attachment to sameness creates compulsive behavior on a scale matched only by the severest cases of obses-sive-compulsive disorder. Stereotypic movements are common. Severe sensory integration problems are well described in books written by some of the highest functioning autistic individuals. Descriptions-such as "when it rains, the sound on the roof is deafening, it sounds like it's drumming on my head"-only begin to give us an idea of what the subjective life of an autistic individual must be like.

The most severe behavioral problems present routinely. Aggression towards others and self-abusive behaviors are common, as is compulsive "picking" to the point of bleeding. Almost all of the routine aspects of life, including eating, sleeping and fundamental social awareness, can never be taken for granted. Some families with autistic members become housebound because the affected family member's behaviors preclude going out together in public.

One of my teenage patients with autism would destroy the supermarket shelves if the "wrong" color foods were there. Even among higher functioning autistic individuals, the social problems are enormous. I know of several cases of teenage boys who, in attempting correct social behavior, expressed their sexual desires to teenage girls inappropriately, and were taken away by the police.

Far From "Rare"

Autism is widely and inaccurately perceived as a "rare" disorder. The latest epidemiology studies do not confirm that. The prevalence is conservatively placed at 1 to 1.5 per 1,000. If we consider the broader group of developmental disorders-including other forms of mental retardation and, at the high end of the spectrum, some of the severe learning disorders-we are talking about a group as large as the population with schizophrenia. Cost of illness estimates conservatively indicate that autism costs $12 to $13 billion dollars a year. The costs in terms of human dignity and parental heartbreak are incalculable.

After much pondering, I came to realize that the disease was being ignored at least partly due to the absence of any nonprofit organization in the United States dedicated to funding and promoting autism biomedical research and treatment. Three years ago, a small group of parents-including two psychiatrists (myself included), one corporate lawyer and a professor of chemistry at Princeton University-determined to fill this vacuum. We founded the National Alliance for Autism Research (NAAR) and set out to model ourselves after some of the most successful disease-specific organizations, particularly the National Alliance for Research on Schizophrenia and Depression (NARSAD).

NAAR's primary mission is to raise money for funding pilot grants ($30,000 for one-year grants) for basic and clinical research in autism with the hope and expectation that these grants can be leveraged into greater funding from the National Institutes of Health.

NAAR has now raised nearly $1 million. Earlier this year, we awarded our first grants to five outstanding scientists. NAAR also anticipates that it will soon commence funding autism fellowships so that more investigators and clinicians will be encouraged to dedicate their research and clinical practice to autism.

All proposals submitted to NAAR are reviewed by a scientific advisory board comprising distinguished experts in all of the disciplines relevant to autism research. NAAR's scientific advisory board includes, among others, Martha Bridge Denckla, M.D., Joseph Coyle, M.D., James Gusella, Ph.D., Eric Nestler, M.D., Ph.D., Marcus Raichle, M.D., Pasko Rakic, M.D., Sc.D., Judith Rumsey, Ph.D., Solomon Snyder, M.D., and Don Wiley, Ph.D.

Five Initiatives

In order to further support the advancement of autism research, NAAR is undertaking five scientific initiatives. One is to help increase the amount of available brain tissue so that, despite the lack of a good animal model, NAAR can help attract more basic scientists to autism research.The second is a language initiative. Severe language impairment is so fundamental to autism and the impairment is so unusual, that there has been very little research into the nature of the language dysfunction. NAAR is planning a two-day workshop in which leading experts in autism and language help define key areas of investigation.

The third initiative is epidemiology. NAAR has been fortunate to work closely with the Centers for Disease Control and Prevention (CDC) in this initiative. CDC has initiated a small surveillance study in the Atlanta area and we are hopeful that this effort will expand. (It is interesting to note that it is undisputed that the number of diagnosed autism cases has been on the rise around the country. Whether this is due to increased awareness or whether there is actually an increase in the incidence is not clear.) NAAR is working with CDC to consider the feasibility of a baseline epidemiological study to address this question.

NAAR's fourth initiative is in the area of early brain development, which again is central to the understanding of autism and thus far inadequately investigated.

The fifth initiative-one which should be very interesting to many practicing psychiatrists-is NAAR's pharmacological initiative. Unfortunately, no medication has been approved for the treatment of autism (or mental retardation). Furthermore, even medications marketed for other indications, but anecdotally described as beneficial in autism, have generally not been subjected to adequate research testing. NAAR's goal is to encourage the pharmaceutical industry to take an interest in this grossly underserved population. We believe that if the psychiatric community would support this goal and join us in this message, our objective could be accomplished. We intend to ask the government to help us accomplish these goals as well.

I would like to conclude by expressing my gratitude to Psychiatric Times for allowing NAAR this opportunity to reach out to the psychiatric community. We invite you all to be a part of our mission. If you are a researcher, please contact us for our Request for Proposal form (RFP). If you are a practicing clinician and would like to help us to improve awareness of autism at your medical school, or to provide speakers, we welcome your inquiries. Finally, if you can help make NAAR known to families affected by autism through display of NAAR brochures or NAARATIVE, NAAR's newsletter, we would be pleased to send you a supply. Please visit NAAR's Web site at http://www.naar.org, e-mail us at naar@naar.org, or contact us at 414 Wall St., Research Park, Princeton, NJ 08540, (888)-777-NAAR.