01/02/2011 01:04 pm ET | Updated May 25, 2011

Shades of Autism Past and Present: A Medical Riddle

In October 1938 a boy named Donald T., age five years one month, arrived at the Harriet Lane Home for Invalid Children in Baltimore. The Home, established in 1912 as the first full-time children's clinic in America, was a 5-story building on the grounds of the Johns Hopkins Hospital.

Donald had been born at full term, weighed nearly 7 pounds, was breast-fed, and had an uneventful infancy. He walked at 13 months. At the age of 1 year he apparently could hum and sing tunes accurately. His parents said that at 2 years of age Donald had an unusual memory for names and faces, and that he easily learned short poems.

None of this was unusual, but when Donald was examined three years later at the Harriet Lane Home he was apparently far from an ordinary child. At age five years and one month, he had a marked limitation of spontaneous activity. He wandered about smiling, making stereotyped movements with his fingers, shook his head from side to side, whispered or hummed the same three-note tune over and over again. He arranged beads, sticks, or blocks in groups of different colors, then squealed and jumped up and down whenever he finished one of the arrangements. Apart from these activities, he showed no initiative and he required constant instruction by his mother for ordinary behavior. Most of his actions were repetitions carried out in exactly the same way they had been originally performed. If he spun a block, he would always start with the same face uppermost. There were verbal rituals that occurred all day, rituals that involved his mother, and if she failed to perform her part he squealed and cried and strained every muscle in his neck until she complied. He used personal pronouns inappropriately, talking about himself as if he were a third person. A day with Donald was a day of chaos for his parents.

During the next four years, Donald was examined repeatedly during visits to the Harriet Lane Home. He was soon to be one of the most famous cases in child psychiatry in America, one of the first cases reported by the child psychiatrist Leo Kanner in 1943. Kanner's research paper essentially established the diagnostic category of "infantile autism"--a revision of ideas about childhood schizophrenia.

Throughout this period, the diagnosis and treatment of autism was essentially controlled by Freudian psychology and psychiatry. This continued into the 1950s, when the Bruno Bettelheim fiasco resulted in the condemnation of many thousands of women as "refrigerator" mothers.

The 1950s also saw the treatment and understanding of psychosis revolutionized by the introduction of antipsychotic drugs. In neurosurgery, observations of the responses of the frontal lobe cortex to stimulation in conscious patients dramatically changed many ideas about brain functions. Revolutionary new surgical techniques involving split brains and hemispherectomy forced revision of ideas about how the various parts of the brain worked together.

So what have we learned since the 1950s? A half-century has passed, a long time in modern science, but autism truly remains a riddle--an agony for parents, a tragedy for autistic children, a puzzle for neuroscience.

The puzzle--and the lack of progress--is exemplified by the following modern case:

Michael W. is thirteen years old, and everyone agrees he's a case of classical autism--but with a common variation. He has impairments in multisensory perception: when he hears, his vision shuts down, and vice versa. He shows many of the symptoms typical of so-called low-functioning cases, including stereotyped movements, repetitive behaviors, inability to produce readily intelligible speech, lack of eye contact, and hypersensitivity to touch and pain. And yet he can indeed communicate using a keyboard, a letter board, or even handwriting. His IQ scores are a contradiction: he has a verbal IQ of 126, way above average, but a performance IQ of only 79, way below average. So the label "low-functioning" is not really appropriate.

To clinicians, Michael appears similar in many ways to the cases of autism first described in 1943 by Leo Kanner. Michael makes almost no eye contact with anyone, and he pays more attention to objects than to people. To most people, he responds by sniffing. He's impulsive and obsessive, and he often has an inability to suppress aggressive behavior. All of this is typical for low-functioning individuals with autism. He also shows an absence of perceived danger, so that he might, for example, run out into traffic in a street. He's a boy with an above average verbal IQ who cannot be left alone for any length of time without the risk of endangering himself.

Such is autism at the end of the first decade of the 21st century. Autism is still with us, still an extremely serious problem for both children and adults--and still a puzzle to be solved by science.

Some sources about autism past and present:

Agin, D. (2011). Autism: Aspects of a Medical Riddle. Spectrum Focus (Amazon Kindle Ebook).

Feinstein, A. (2010). A History of Autism: Conversations with the Pioneers. Wiley-Blackwell.

Miller, B. L.; Cummings, J. L. (2007). The Human Frontal Lobes: Functions and Disorders. 2nd Edition. Guilford Press.

Offit, P. A. (2008). Autism's False Prophets: Bad Science, Risky Medicine, and the Search for a Cure. Columbia University Press.

Waltz, M. (2010). Autism: A Social and Medical History. Palgrave Macmillan.