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Asperger’s Disorder and Savant Syndrome

By Darold A. Treffert, MD

April 29, 2004 Asperger’s article in The New York Times
Amy Harmon: Answer, but No Cure, for a Social Disorder That Isolates Many

Click here to go to the March 19, 2004 update.

In 1944 an Austrian pediatrician, Hans Asperger, wrote a doctoral thesis in which he described four patients with rather severe but characteristic psychiatric and social impairments who showed exceptional skill or talent disproportionate to very uneven intellectual ability. Usually the skill included extraordinary memory. He applied the term “autistic psychopathy” to these four patients.

Dr. Asperger, in Austria, had never heard of Dr. Leo Kanner, in the United States. But surprisingly, only one year earlier, a continent away, Dr. Kanner independently applied the term Early Infantile Autism to a group of 11 patients he had seen with also very unique, but nearly uniform symptoms. It is interesting that both Dr. Asperger and Dr. Kanner independently latched onto and included the word autism to describe the syndromes they separately witnessed. But both were apparently drawn to the word “Autism” as a clinical term originally coined by the Swiss psychiatrist Eugen Bleuler in 1919; Bleuler had also coined the word “schizophrenia.” Asperger used the term “autism” by itself frequently in his paper, and his use of the word “psychopathy” could have as easily been “personality,” as he himself pointed out. Thus the term “autistic personality” might have better characterized the condition he so carefully described, and would have captured better the overall tone of his patients, and would be better understood and better accepted than “psychopathy.” Actually Asperger did not name the condition after himself. The condition we now know as Asperger’s Syndrome was given that name by Dr. Lorna Wing in 1981, in a paper entitled “Asperger’s Syndrome: A clinical account,” 37 years after Asperger’s original paper, and one year after his death.

Traits and symptoms that Dr. Kanner described in his group of autistic patients included withdrawal and aloneness; mutism or language that fails to convey meaning; delayed developmental milestones; phenomenal rote memory; echolalia; concrete thinking; reference to self in the third person; obsessive desire for sameness; good relation to objects but not to people; fascination with spinning objects and rhythm; staring through people rather than at them; handsome faces that give an impression of serious-mindedness; anxiousness in the presence of others, with a placid smile of beatitude, often accompanied by happy though monotonous humming and singing. In that original group the male:female ratio was 4:1.

Traits and symptoms that Dr. Asperger described in his group of Asperger’s patients were similar in many respects to Autistic Disorder, but included some unique characteristics as well. In one of his patients, Fritz V, he noted, for example, very early speech, with learning to talk before learning to walk; the ability to express himself in complete sentences, soon “talking like an adult;” the absence of normal speech “melody” or tone such that the natural flow of speech was impaired producing instead a very monotone conversation; stereotypical movements and habits; highly intellectual family history, in this case on the mother’s side; little eye contact with a “gaze directed into the void” rather than directly at people; social relations that were very limited; clumsiness; intellectual abilities which were very scattered and “highly contradictory;” exceptional memory; and a remarkable calculating ability, mastery of negative numbers and fractions as a “special interest.”

While Asperger described only four patients in detail in this original paper, by the time he wrote his thesis he had observed over 200 such patients over a ten year period of time. In the aggregate he listed, in part, these findings and characteristics: a lack of eye contact, not being sure whether the child is looking into the far distance, or inward; paucity of facial and gestural expression; flat, emotionally toneless language not directed to the addressee but often as if spoken into empty space; special abilities interwoven with disabilities; unusual interest in natural sciences, complex calculations or calendar calculating; exceptional rote memory; limitations in social relationships; intellect generally above average, but very scattered in distribution and lacking harmony between intellect and affect; pronounced likes and dislikes with respect to taste; hypersensitivity to tactile sensation and/or to sound, although hyposensitivity to sound can be seen as well; intense interest in collecting things with strong attachment to those objects, compared to attachment to persons; absence of a sense of humor; marked predominance of boys to girls with this disorder; predilection for only children; a marked genetic component with related family traits in every single case where it was possible to trace such; many fathers who occupied high positions and ancestors of intellectuals for several generations; a high proportion of such autistic persons in whom work performance can be excellent and which can provide some social integration. Dr. Asperger describes one case he observed over three decades, from boyhood to manhood, who in college discovered an error in Newton’s work, made that the subject of his doctoral dissertation and went on to become a faculty member in a University Department of Astronomy.

As Autistic Disorder and Asperger’s Disorder have been compared and contrasted through the years, some similarities, as well as differences, have emerged. As in autism, males outnumber females approximately 6:1 in Asperger’s Disorder. Unlike Autistic Disorder however, in Asperger’s Disorder onset of speech is usually not delayed; but like autism, speech in Asperger’s is repetitive, with monotone intonation and absence of first person pronouns. In both Autistic Disorder and Asperger’s nonverbal communication is flat with staring through, rather than, at persons and repetitive activities are preferred with resistance to change and intense attachments to particular possessions. Often commented upon as a special trait of Asperger’s is poor motor coordination with clumsy, peculiar gaits. Memory is often prodigious in Asperger patients with extraordinary preoccupation and mastery of one or two subjects such as bus schedules, sports statistics, or history trivia, sometimes to the exclusion of learning in all other areas. Language overall is rather limited in Asperger’s Disorder, but in the area of special expertise, conversation can be expansive, pedantic and seemingly scholarly but shows little grasp of the meaning of words put forth so liberally. Even those dissertations tend to be carried out by rote memory.

Kanner’s work received wide distribution, but Asperger’s work was largely ignored until 1981 when Asperger’s work was translated into English for the first time, and his name was attached to the disorder. Since then there has been continuous debate as to whether Asperger’s Disorder and Autistic Disorder are simply different points on a spectrum of the same disorder, or whether they are in fact two different conditions that happen to share a number of symptoms in common. While not everyone agrees, there is a general consensus emerging these days that Autistic Disorder and Asperger’s Disorder are similar if not the same conditions, differing only as to where they sit on a spectrum of disability encompassed in the overall term of Pervasive Developmental Disability (PDD). Asperger’s Disorder is at the higher end of that spectrum, in fact sometimes being referred to as High Functioning Autism. In a 1966 review of this question, Trevarthen and his co-authors, (Children with autism: diagnosis and interventions to meet their needs), after examining the data on this topic, concluded that autistic disorder and Asperger’s disorder are better viewed as differing in level of impairment on a continuing spectrum of severity rather than being viewed as two separate conditions.

In a 1991 book edited by Uta Frith entitled Autism and Asperger’s Syndrome, the links between autism and Asperger’s syndrome are explored. Several distinctive features of Asperger’s are generally described: (1) clumsiness and poor motor coordination, not regularly seen in autism; (2) a higher level of social functioning than seen in autistic persons but containing unusual, peculiar and naïve social interactions; (3) the use of facile, expansive language in several favorite subject areas but with no grasp of the meaning of words used, in contrast to mutism or globally impaired speech so often characteristic of autism; and (4) an average or above average measured IQ. Asperger believed his patients to be of high intelligence but provided no IQ scores to confirm that impression. Later studies have shown average or above average intelligence in 80% of cases.

While Asperger’s Disorder is generally, and probably correctly, viewed as belonging on the high-functioning end of the Autistic Disorder spectrum, it may well be that it exists there as a distinct subgroup. Autistic Disorder, in my view, should more properly be called the “group of Autistic Disorders” rather than be viewed as if Autistic Disorder is a single entity with a single cause, course and outcome. Just as “mental retardation” is not a single entity—there are many subgroups with differing causes—Autistic Disorder, or autism, likewise is not a single disorder with a single cause in all cases. Autistic Disorder is not a form of mental retardation. But just as the broad term “mental retardation” encompasses a whole number of subgroups such as Down’s Syndrome or phenylketonuria, for example, with widely differing causes, so the term “autism” or “Autistic Disorder,” likewise encompasses a number of subgroups which share similar symptoms as a final common path, but those subgroups have widely differing causes—some genetic, some environmental, some developmental, and some acquired. In my view Asperger’s Disorder exists as a separate subgroup on the Autistic Disorder or PDD spectrum, with some unique and fairly characteristic traits and symptoms, and perhaps a separate, distinct cause or etiology.

A Swedish study in 1989 suggested that Asperger’s Disorder may occur in as many as 26 of 10,000 children. There appears to be an increased incidence of Asperger’s Disorder among relatives of those who have the disorder, suggesting a genetic component to the condition; a case of Asperger’s in triplets fortifies the evidence for some genetic factors. While clumsiness is sometimes noted as a differentiating feature between Asperger’s and Autism, some studies have shown no support for that observation. Asperger himself, as well as other clinicians, have commented on face blindness (prosopagnosia) as being present, perhaps denoting a subgroup of the disorder.

Savant skills, while not universally present in Asperger’s persons, are very common, and generally include prodigious memory. When they do occur, in my experience, those special abilities in Asperger’s tend to involve numbers, mathematics, mechanical and spatial skills. Many are drawn to science, inventions, complex machines and particularly, now, computers. Some such skills lead to PhDs in mathematics or other sciences and a goodly number of Asperger persons are gainfully, and highly successfully, employed in computer or related industries because of the natural affinity of Asperger persons to organization, numbers and codes. Steven Silverman examines the concentration and increasing numbers of Asperger’s and Autistic persons in the Silicon Valley in an in-depth article on this phenomenon in the magazine Wired, in the December 2001 issue. That article points up the natural affinity of high functioning autistic persons for computer and related occupations, and examines genetic and environmental reasons why there might be such a startling increase of Autism and Asperger’s disorders as has been reported in California generally, and in the Silicon Valley specifically.

Beyond merely describing the disorder that bears his name, Dr. Asperger was passionately involved in the teaching and training of his “autistic” patients and overall he was very optimistic about outcome using proper methods and techniques. While there are other “how to” books, his hints, tips and pearls for dealing with these special people cannot be improved upon. I refer specifically in his original paper to a very detailed “how-to” section for teachers involved with these autistic persons with many specific, hands on illustrations for approaching these special people. He points out forcefully that “exceptional human beings must be given exceptional educational treatment, treatment which takes into account their special difficulties. Further, we can show that despite abnormality, human beings can fulfill their social role within the community, especially if they find understanding, love and guidance.” He goes on to state that even though in many cases social problems can be so profound that they overshadow everything else, “in some cases the problems are compensated by a high level of original thought and experience that can often lead to exceptional achievements in later life.”

From a research point of view, in attempting to tie specific causes to specific disorders, the beginning of wisdom is to call things by their right names. In that quest classifications, groups and subgroups matter. But from an everyday, living-with-the-family, sitting-in-the-classroom, or going-to-work point of view, whether Asperger’s Syndrome is the same as, or different from, or a subgroup of, Autistic Disorder really doesn’t matter a great deal. In those daily settings classifications, labels and diagnostic categories can often be too stereotyping, too unindividualized, and too confining. Hans Asperger, when you read his original paper, is as staunch an advocate for the persons who have the disorder that bear his name as any I have seen along the way. Liberally laced in that lengthy paper, alongside some scientific and medical terms and astute observations are the words and actions that Dr. Asperger felt make a difference in the lives of these extraordinary people, whatever the cause of the condition: “true understanding; acceptance; love; guidance; exceptional human beings; special difficulties; genuine care; kindness; sensitivity; humour; outstanding achievements; dedicated and loving educators; determination; absolutely dedicated; and a right and a duty to speak out for these children with the whole force of our personality.”

The May 6, 2002 issue of TIME magazine, online at http://www.time.com/time/covers/1101020506/scautism.hmtl has an in-depth section entitled “The Secrets of Autism.” One portion of that article examines Asperger’s disorder — “a.k.a. the ‘little professor’ or ‘geek’ syndrome.” It examines the apparent “explosion” in Autism and Asperger’s cases, especially in the Silicon Valley in California, raising the question of whether the reported increase in cases represents an actual rise in the number of new cases or rather simply a broadening of diagnosis. The article also presents a fairly comprehensive review of some of the newer research findings, particularly in the area of genetics, regarding the causes of Autism, Asperger’s and related disorders.

Much more additional, useful information about Asperger’s Syndrome can be found on the O.A.S.I.S (Online Asperger’s Syndrome Information and Support) website at http://www.udel.edu/bkirby/asperger/. Another very useful resource on Asperger’s Disorder is a 1998 book by psychologist Tony Atwood, entitled Asperger’s Syndrome:A Guide for Parents and Professionals. The Frequently Asked Questions section of that book is particularly helpful for parents and other caretakers or teachers with respect to specific interventions and techniques for helping Asperger persons deal with specific behaviors, and reach full potential. An additional web site which provides perspectives by persons with Autistic and Asperger’s disorders, rather than just information about them, can be found at http://www.ani.ac. That site is provided by “Autism Network International, an autistic-run, self-help and advocacy organization for autistic people.”

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Asperger’s and High Functioning Autism: The same or different disorders?

Often Autistic Spectrum Disorders are divided into three categories: Low Functioning Autism (IQ less than 70); High Functioning Autism (IQ greater than 70); and Asperger’s syndrome. Using structural MRI imaging, Lotspeich and co-workers at Stanford and other facilities, attempted to see if there were differences in total brain volume, and particularly grey matter volume, between the low functioning autism, high functioning autism and Asperger’s syndrome groups. From prior studies a consensus generally seems to be developing that abnormalities in gray matter development, as opposed to total brain volume, seem to be the defining feature of autism compared to control groups.

This study is the first neuroimaging work to investigate differences in brain volume specifically between autism and Asperger’s patients. There were no differences between high functioning autism and Asperger’s Syndrome on measurements of total cerebral volume (total, gray and white tissue), nor were there any differences between the Asperger’s patients and the matched control group of non-disabled individuals in this regard. But mean cerebral gray matter volume for the Asperger’s group was intermediate between the high functioning autistic group and the control group suggesting “a continuum in which cerebral gray matter volume increases with the severity of the PDD condition.” However when specific neuropsychological testing, including verbal IQ and performance IQ discrepancies were analyzed, there was a suggestion that high functioning autism and Asperger’s Syndrome were different disorders. The author’s of the study summarize it in this way: “Our attempt to determine whether high functioning autism and Asperger’s disorder are conditions on a continuum or are distinct biological entities was only partially successful. On the single measure of cerebral gray tissue volume, these conditions appear to represent a continuum of severity, with autism exhibiting the greatest aberrant neurodevelopment. However on multiple measures (ie, brain-behavior correlations of IQ with specific cerebral volumes) there is preliminary evidence of fundamentally different patterns of neurodevelopment between high functioning autism and Asperger’s syndrome subjects.” The authors point out that other behavioral and cognitive studies have suggested autism and Asperger’s may be clinically and neurobiologically different from each other, and family studies have suggested that Asperger’s syndrome may be genetically different from autism as well. Their work suggests “that when high functioning autism and Asperper’s syndrome are differentiated by history of language development, as they are herein, qualitative differences may surface when patterns of multiple measurements are examined.

So this study does not settle the question, but it does point in the direction that there are some basic qualitative neurodevelopmental and neurobiological differences between high functioning autism and Asperger’s syndrome, and that they are not merely the same condition on spectrum that separates them only quantitatively. The study appears in Archives of General Psychiatry, March, 2004 issue (Volume 61:291-297, 2004).

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For more information, please contact:
Darold A. Treffert, MD
St. Agnes Hospital, Fond du Lac, Wisconsin
Clinical Professor, Department of Psychiatry
University of Wisconsin Medical School, Madison
Personal Web site: http://www.daroldtreffert.com
e-mail: savants@charter.net