Autism and Asperger’s Syndrome Research Paper

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Abstract

Autism and Asperger’s syndrome are disorders characterized by marked disturbances in the basic aspects of social development and are associated with unusual behaviors. In autism, marked disturbances in language and communication are present and the disturbances in behavior can take the form of unusual purposeless mannerisms (stereotypies), behavioral rigidity and compulsive adherence to rituals and routines, unusual preoccupations, or preoccupation with nonfunctional aspects of materials. In Asperger’s syndrome, language skills are, in general, preserved, although social use of language may be impaired; typically unusual, all encompassing, circumscribed interests are present. The relationship of these two conditions is the topic of some debate. There is general agreement on the important role of genetic and other neurobiological factors in causing these conditions. Treatment, particularly if delivered early, can significantly improve outcome.

Outline

Definition and Diagnosis
Epidemiology
Biological Mechanisms
Psychological Processes
Treatment
Course and Prognosis

1. Definition And Diagnosis

Autism was first described by Leo Kanner in 1943 when he described a group of children who he believed were born without the usual predisposition to be social. Kanner’s description has, in general, proven remarkably accurate. He emphasized two essential features for autism: (i) The autism involved what appeared to be self-absorption, and (ii) the insistence on sameness involved the unusual preoccupation with objects and difficulties in dealing with change. Kanner described many of the other clinical features often observed in autism (e.g., unusual ‘‘splinter’’ skills on psychological testing, profound problems in communication, and difficulties with echolalia and language use for those children who did speak). In 1944, Hans Asperger, unfamiliar with Kanner’s paper, published his description of a small group of boys with what he termed autistic personality disorder or, as it was more commonly translated, autistic psychopathy. Like Kanner, he emphasized the marked social difficulties in these cases; unlike Kanner, he mentioned that in his cases words seemed to serve as the ‘‘lifeline’’ for the child. Asperger also noted the presence of strong circumscribed interests that dominated the child’s life (and often the family life as well) to the point that these interfered with acquiring other skills. His paper also mentioned some other point of divergence from Kanner’s description; for example, Asperger believed that the disorder tended to run in families (particularly in fathers) and was associated with motor clumsiness.

In the years following Kanner’s description (which was much more widely known in the English-speaking world) there was much controversy about the possible continuity of autism with schizophrenia and other forms of psychosis; the etiology of the condition was also controversial, with some clinicians implicating deviant experience. However, as data accumulated it became clear that autism was not an early form of schizophrenia and various lines of evidence strongly implicated neurobiological factors in pathogenesis. Asperger’s work was largely ignored in the English-speaking world until a paper by Lorna Wing (1981) introduced his concept and stimulated much research. Autism was first officially recognized in 1980 as diagnosis apart from childhood schizophrenia. Asperger’s disorder was only recognized in 1994, and its definition remains the topic of debate.

2. Epidemiology

More than 30 studies have been conduced on the epidemiology of autism, with most focusing on more stringently diagnosed autism. A prevalence rate of approximately 1 case per 1000 children appears reasonable, with lower rates observed for Asperger’s disorder (approximately 2.5/10,000 children). Recent studies have generally reported higher rates than older ones, but changes in diagnosis, an increased awareness of the disorder, and other factors complicate our understanding of this increase.

Although Kanner’s initial report suggested high rates of professional and educational achievement in parents, it appears that this was due to a bias in cases referred to him; children with autism and Asperger’s come from parents of all levels of educational and occupational achievement and from all races and cultures. Studies consistently report higher rates in boys than in girls for both conditions (3.5 or 4 boys for every girl); girls with autism are more likely to have significant mental retardation, raising the possibility that males have a lower threshold for expressing the disorder.

Autism is associated with a range of medical conditions. Most strikingly, perhaps 20% of children with autism will develop seizure disorder (epilepsy). Although autism has been associated with a range of other medical conditions, the two strongest associations have been for Fragile X syndrome and tuberous sclerosis—two strongly genetic disorders.

3. Biological Mechanisms

Various lines of evidence suggest the importance of neurobiological factors in causing autism and Asperger’s disorder. For example, children with autism exhibited an increased rate of persistent primitive reflexes, delayed development of hand dominance, EEG abnormalities, and seizure disorder. During the past few decades, there has also been an increased appreciation of the role of genetic factors in both conditions. This evidence includes the observation of much higher rates of concordance for autism in identical as opposed to (same-sex) fraternal twins, an approximately

50-fold increase in the disorder among siblings, and an increased risk to siblings of a range of other developmental problems. Although the data for Asperger’s disorder are more limited, there is evidence for significant rates of this condition in family members as well.

Studies of neurochemistry have not found specific biological markers, although it is clear that as a group, individuals with autism exhibited elevated levels of the neurotransmitter serotonin. Neuroimaging and neuropathological findings have included a general increase in brain size and abnormalities in the cerebellum and in structures such as the amygdala.

4. Psychological Processes

In his initial report of infantile autism, Kanner mentioned that children with autism likely had good cognitive potential given their ability to perform well on some parts of intelligence tests. Whereas subsequent research has confirmed the observation that there are some areas of strength in autism, it also has made it clear that approximately 70% of children with autism do exhibit mental retardation. Areas of strength on psychological testing typically include nonverbal skills, whereas verbal skills are generally areas of weakness. In Asperger’s disorder, a reverse profile (often of the type termed nonverbal learning disability) is often identified.

People with autism do, at times, exhibit unusual skills (‘‘islets of special abilities’’) that stand in marked contrast to overall intellectual level. For example, there might be unusual facility in decoding letters and numbers (hyperlexia) or feats of memory, calendar calculation, drawing, or musical abilities. Such individuals are sometimes termed autistic savants. In Asperger’s disorder, special interests often take the form of considerable knowledge about some circumscribed area of interest (e.g., clocks, time, dinosaurs, the operas of Wagner, and snakes).

Various psychological theories have been proposed to account for the unusual constellation of abilities in autism. One theory focuses on what is termed a lack of central coherence with a resulting difficulty in integrating information. Another theory posits deficits in executive function (i.e., in organizational and forward planning skills). Yet another theory suggests that individuals with autism lack a theory of mind (i.e., have difficulties in putting themselves in another person’s place). This theory has been highly productive for research but fails to account for the significant social disability of high functioning individuals who usually can perform theory of mind tasks with ease; a lack of developmental orientation is also problematic (i.e., children with autism exhibit social deficits in areas that typically would precede emergence of theory of mind).

Recent work has highlighted the importance of studying specific social processes in autism, for example, in the ways individuals with autism view social scenes or look at faces.

5. Treatment

Educational and behavioral interventions are the mainstay of treatment for autism and Asperger’s disorder. Goals of treatment include minimizing disruptive behaviors, promoting learning and ‘‘learning to learn’’ skills, and increasing social, communication, and self-help skills. Generally, a fairly intensive and highly structured program is needed, particularly for younger children with autism. Changes in syndrome expression with increased age and development require periodic updates of treatment goals. Given the tendency toward rigidity and perseveration, generalization of skills is an important aspect of intervention. Augmentative communication systems may be helpful. For children with Asperger’s disorder, better verbal skills sometimes mask the extent of problems in other areas. Consideration of the child’s pattern of strengths and weaknesses should be included in educational planning. Most educational programs for children with autism utilize behavioral management techniques to some extent. Psychodynamic, play therapies have a limited role in treatment; for verbal individuals, structured and focused psychotherapy/counseling may be helpful.

Although no drug treatment has proven curative, important target symptoms, such as self-injury, aggression, and overactivity, can be significantly improved. For individuals with autism, the major tranquilizers (particularly the atypical neuroleptics) have been used. For higher functioning individuals with autism and Asperger’s, antidepressants and selective serotonin reuptake inhibitors may be of some benefit.

6. Course And Prognosis

Earlier detection and intervention has significantly improved the outcome in autism. Prior to provision of educational services, relatively few individuals with autism were able to attain personal self-sufficiency and independence as adults. However, longitudinal data suggest that with provision of early diagnosis and intervention perhaps 15% of individuals with autism are able to be relatively independent and self-sufficient as adults, with another 20% of cases able to function in the community with some support. Positive prognostic factors include overall intelligence and communication skills (particularly the presence of communicative speech by age 5). Although data are relatively more limited, individuals with Asperger’s disorder appear to have more positive outcomes (as a group, they also have higher IQs and good verbal skills). A major medical complication is the development of seizures in perhaps

20% of individuals with autism; the risk for developing seizures is increased through childhood and adolescence. Depressive and anxiety symptoms may appear in higher functioning adolescents, who may become more aware of their areas of disability, become painfully aware of their inability to form friendships despite a desire to do so, and begin to suffer the cumulative effect of years of failed contact with others and teasing.

References:

Asperger, H. (1944). Die ‘‘Autistichen Psychopathen’’ im Kindersalter. Archive fur Psychiatrie und Nervenkrankheiten, 117, 76–136.
Fombonne, E. (2003). Epidemiological surveys of autism and other pervasive developmental disorders: An update. Journal of Autism and Developmental Disorders, 33(4), 365–382.
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–250.
Klin, A., Jones, W., Schultz, R., & Volkmar, F. (2003). The enactive mind, or from actions to cognition: Lessons from autism. Philosophical Transactions of the Royal Society of London Series B: Biological Sciences, 358(1430), 345–360.
National Research. (2001). Educating young children with autism. Washington, DC: National Academy Press.
Volkmar, F. R., Klin, A., Siegel, B., Szatmari, P., Lord, C., Campbell, M., et al. (1994). Field trial for autistic disorder in DSM-IV. American Journal of Psychiatry, 151(9), 1361–1367.
Wing, L. (1981). Asperger’s syndrome: A clinical account. Psychology and Medicine, 11(1), 115–129.