Introduction to Asperger Syndrome: A developmental-lifespan perspective

 

Kevin P. Stoddart

 

(Excerpt from: ”Children, Youth and Adults with Asperger Syndrome: Integrating Multiple Perspectives”, London, UK: Jessica Kingsley Publishers, 2005)

 

He was reported to be a very difficult toddler, paying heed to neither his indulgent mother nor his strict father. He was said to be unable to cope with the ordinary demands of everyday life. The mother believed that it was because of his clumsiness and impracticality that he had more difficulties than other children. For instance, it was still necessary to dress him, since, by himself, he would dawdle endlessly and also make a lot of mistakes. He had learnt to eat by himself only recently and was still a messy eater… Before he entered school everyone was convinced that he would learn particularly well, since he was always making clever remarks and original observations. Moreover, he had by himself learned to count to twenty as well as picking up the names of various letters. At school however, he failed miserably. (Asperger 1944/1991, p.59)

 

This was Hans Asperger’s description of Ernst, a 7½-year-old boy seen in his clinic in Vienna. In his 1944 paper, Asperger reported on Ernst and other children who suffered from “autistic psychopathy”. His descriptions and analysis provide us with one of the first views of these children, their intriguing profile of skills, and puzzling deficits.

 

In terms of expressive characteristics, Asperger observed the abnormal eye gaze and “paucity of facial and gestural expression”. Just as he noted the limiting relational aspects of a fleeting gaze, Asperger felt the language of these children also impaired their ability to communicate nuance and relate to others. He characterized their language as feeling “unnatural” and being spoken “as if into empty space”. He termed the pragmatic deficits in communication, “contact-creating expressive functions”.

 

In his discussion, Asperger detailed his observations of what he termed “autistic intelligence”. This, he characterized as having a strength for original thought, yet an opposing difficulty in assimilating and learning “adult knowledge”. An example was the use of language, in that they expressed their experiences in “linguistically original form”, atypical of peers their age. Asperger argued the “fundamental disorder of autistic individuals is the limitation of their social relationships”. He felt that this problem was evident from the smallest social group, the family, to larger groups such as peers at school. Even within the family, the children were isolated. An observer of one of the children in Asperger’s clinic poignantly noted: “He dwells among people as if a stranger.” These children were “tormented and rejected by their classmates” as their language and behavioural oddities “cries out to be ridiculed”.

 

Asperger saw stereotypic activity in these children such as movements or interaction with a toy. In contrast to their tenuous connections to peers, relations to objects were abnormally intense. Attachment to objects was so extreme that removal of the object often resulted in tantrums. Some of these interests or fixations would turn into chronic and maladaptive preoccupations, such as the boy with a serious eating problem who fixated on the specks of fat that were floating on the surface of his soup.

 

Recent descriptions of Asperger Syndrome

 

Interest in Asperger Syndrome (AS) grew throughout the 1980s, following Lorna Wing’s discussion of children and adults seen during her epidemiological research of childhood psychosis in London and of children referred to her for diagnosis (Wing 1981). On most points, she agreed with the description of these children provided by Asperger in 1944. However, she added that the child may show specific signs of AS during the first year of life: “there is a lack of the intense urge to communicate in babble, gesture, movement, smiles, laughter and eventually speech that characterizes the normal baby and toddler” (Wing 1981, p.73). Wing observed that imaginative pretend play does not occur in some children, but that when it does, it is limited to a few themes, is enacted repetitively, and does not involve other children except when peers are willing to follow the routine prescribed by the child with AS.

 

Wing differed from Asperger on a few issues. In response to Asperger’s suggestion that speech developed before walking in these children, Wing asserted that half of her cases walked at the usual age and were slow to talk, and the other half talked normally but were slow to walk. She pointed out that although the children’s speech was impressive because of good grammatical skills and vocabulary, the content of speech was impoverished since much of it was learned by rote. Asperger felt that people with these traits could be capable and original in their field of work; Wing remarked that this showed their unique thought process and chain of reasoning, which resulted in new insights.

 

In Canada, Peter Szatmari and colleagues compared gender- and age-matched children and adolescents with traits of AS to children and youth who were “isolated and odd” (Szatmari, Bremner, and Nagy 1989). Following comparison of the clinical features of these groups, their criteria for the diagnosis of AS included: (1) solitariness; (2) impaired social interaction; (3) impaired nonverbal communication; (4) odd speech and (5) does not meet criteria for autistic disorder.

 

Uta Frith (1991) provided a translation of Asperger’s original paper, which raised awareness of the syndrome in English-speaking countries. In the 1994 edition of the Diagnostic and Statistical Manual (DSM-IV: APA 1994) criteria for Asperger Disorder were first included in the category of Pervasive Developmental Disorders (PDDs). The current text revision of the DSM-IV (APA 2000) criteria for AS is seen in Figure 1.1. According to these criteria, there are two characteristics used to distinguish autism and AS: (1) delayed language development in autism and not in AS, and (2) at least average/near-average intellectual abilities necessary in AS. Other PDDs include Autistic Disorder, Rett’s Disorder, Childhood Disintegrative Disorder, and Pervasive Developmental Disorder – Not Otherwise Specified.

 

Although the formal inclusion of the diagnostic criteria of AS in the DSM-IV (APA 1994) gives the impression that consensus has been reached about the diagnostic criteria for AS, there remains considerable debate about the set of characteristics which define AS (Gillberg 1998; Frith 2004). Central to this deliberation is the question of whether AS is qualitatively different from high-functioning autism (HFA) (Mayes, Calhoun, and Crites 2001). In their review of studies published by 2002 comparing AS to HFA, Macintosh and Dissanayake (2004) suggest there is insufficient evidence to prove that AS is distinct from HFA. However, a meta-analysis of ten studies examining cognitive and adaptive behaviour reported significant differences in these groups (McLaughlin-Cheng 1998). Most researchers and clinicians do agree however, that AS is a part of the spectrum of autistic presentations, commonly known as autism spectrum disorders (ASDs).

 

In an attempt to further refine diagnostic criteria, and to differentiate HFA from AS, studies in the last decade have focussed on variables such as clumsiness/motor performance (e.g. Ghaziuddin et al. 1994; Manjiviona and Prior 1995), neuropsychological traits (i.e. language development, motor skills, visual–spatial abilities, and executive function; e.g. Miller and Ozonoff 2000), and pedantic speaking style (e.g. Ghazuiddin and Gerstein 1996). Cluster analysis of groups of children with mild presentations of ASDs have been carried out to discover if they cluster according to characteristics based on current diagnostic groupings (e.g. Prior et al. 1998).

 

Although refining of the diagnosis of AS is required through continuing empirical study, clearly the emergence of the label has led to increasing use by clinicians and individuals affected by the disorder. Clinical practice has not waited for the extensive study that clarification of criteria involves. It will be important to continue to uncover the clinical value of differentiating AS from autism.

 

What is the prevalence of autism spectrum disorders? Is the incidence increasing?

 

These questions were the subject of epidemiological inquiry in the 1990s that continues to be of considerable debate (e.g. Wing and Potter 2002; Fombonne 2003; Tidmarsh and Volkmar 2003). Clinical experience suggests that a diagnosis of an ASD, including AS, is now more frequently given. Social service, medical, and educational systems involved with children and adults with ASDs are burdened beyond what could have been predicted a decade ago. Many influences have brought this issue to the forefront of autism research, such as the overwhelming increase of children with ASDs seeking services in parts of the United States (e.g. Croen et al. 2002).

 

For AS, the diagnosis is more commonly known, in part because of the inclusion of the diagnosis in the DSM-IV (APA 1994). AS and other mild ASDs are frequently discussed in the media (e.g. Harmon 2004; Vallis 2004) and in popular books (Haddon 2002). Diagnosticians are recognizing that the breadth of ASDs is much wider than once thought. Although practice experience provides a compelling case for the increasing incidence of ASDs, what does the epidemiological literature indicate?

 

Various methodological issues are relevant in studies of the epidemiology of ASDs. These include changes in diagnostic classification, diagnostic precision, differing types of screening, the size of the population screened, and the relative rarity of some of the ASDs. There has been improved case finding in recent studies (Fombonne 2003), which may prove deceptive. It is therefore premature to conclude that the incidence of autism and other ASDs has risen (Wing and Potter 2002; Fombonne 2003; Tidmarsh and Volkmar 2003).

 

An early screening of children for AS in Göteborg, Sweden between the ages of seven and 16, suggested a minimum prevalence rate for AS of 3.6 per 1000 and a male to female ratio of 4:1. When “suspected” and “possible” cases were included, the prevalence rose to 7.1 per 1000 children and the male to female ratio dropped to 2.3:1 (Ehlers and Gillberg 1993). Fombonne and Tidmarsh (2003) have noted several weaknesses in the methodology of this study, however.

 

Fombonne (2003) has reviewed 32 epidemiological surveys of PDDs published between 1966 and 2001. He suggests that for all PDDs, the prevalence rate is from 30 per 10,000 to 60 per 10,000 and that a conservative rate for AS is 2.5 per 10,000. This figure, based on rates of AS identified in six recent studies of all ASDs, must be interpreted with caution. Fombonne (2003) estimates the rate of AS is one-quarter that of autism.

 

Aetiology

 

The search for cause(s) of AS is intimately linked to the search for cause(s) of other ASDs. A central theory at this time is genetic. Evidence suggests the genetics of ASDs is complex, with at least several genes acting in unison (IMGSAC 1998; 2001). Traits of AS are often recognized in family members either by the individuals themselves or by clinicians. A genetic aetiology does not preclude the potential role of biological/environmental variables. However, recent concern over the use of the MMR vaccine contributing to autism has not found empirical evidence (Taylor et al. 1999; Fombonne and Cook 2003). Although there has been no conclusive aetiological evidence to distinguish individuals with AS from others on the spectrum (Szatmari 2003), there have been observations that have suggested the cause of AS specifically. For example, Ellis and Gunter (1999) have proposed that AS is reflective of a right-hemisphere dysfunction.

 

Figure 1.1 DSM-IV-TR (2000) diagnostic criteria for 299.80 Asperger Disorder

A. Qualitative impairment in social interaction, as manifested by at least two of the following:

 

1. Marked impairment in the use of multiple nonverbal behaviours such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

2. Failure to develop peer relationships appropriate to developmental level

3. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest to other people)

4. Lack of social or emotional reciprocity

 

B. Restricted repetitive and stereotyped patterns of behaviour, interests, and activities, as manifested by at least one of the following:

 

1. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus

2. Apparently inflexible adherence to specific, non-functional routines or rituals

3. Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole body movements)

4. Persistent preoccupation with parts of objects

 

C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning

 

D. There is no clinically significant general delay in language (e.g. single words used by age 2 years, communicative phrases used by age 3 years)

 

E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behaviour (other than in social interaction), and curiosity about the environment in childhood

 

F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia