Development of diagnostic concepts

Autism was first recognized by Leo Kanner(3) in his classic report of !! children with 'autistic disturbances of affective contact'. Kanner noted that these children appeared to be unable to relate—apparently from the beginning of life; they also exhibited atypical language, unusual responses to the environment, and difficulties in dealing with change. He used Bleuler's earlier term 'autistic' to convey the children's social isolation. Although children with autism had undoubtedly previously been observed/4,) it was Kanner's particular genius to so precisely describe the condition. At the same time certain of his initial impressions were incorrect, for example his use of the term autism introduced an (originally) unintended confusion with schizophrenia and assumed that the children had normal intellectual potential. Subsequently, it became clear that autism and schizophrenia were distinct and that attribution of low IQ scores to 'poor testability' were incorrect. (5) While non-verbal cognitive abilities may (relatively) be preserved(6) most children with autism, perhaps as many as 70 per cent, have full-scale IQ scores in the mentally retarded range.(7) Although suggesting that the condition was congenital, Kanner also mentioned that parents were very well educated and successful; this led to a notion, common during the 1950s, that autism might somehow result from deviant patterns of care. A large body of evidence shows that this is most certainly not the case.(8) It is clear that families of children with autism come from all social classes and circumstances.

Both before and after Kanner's work other clinicians had attempted to describe syndromes with at least some phenomenological similarity to autism. For example, shortly after the turn of the century a special educator working in Vienna, Theodor Heller, (1°) reported children who had a period of several years of normal development prior to a marked regression with loss of skills in multiple areas and minimal recovery. He initially termed the condition dementia infantilis; subsequently it has been referred to as Heller's syndrome, disintegrative psychosis, or childhood disintegrative disorder. (!1) Once it develops the condition is indistinguishable from autism/1,2) but it is accorded separate diagnostic status since it appears distinctive in terms of onset and course.

In the year following Kanner's description, a medical student, Hans Asperger, (!3> described four boys with marked social problems, unusual perseverative interests, and motor clumsiness. Although unaware of Kanner's work, Asperger used the term 'autistic psychopathy' to describe this condition. Unknown to the English-speaking world for many years, his description had points of difference, as well as similarity, to Kanner's report. For example, verbal abilities tended to be an area of strength, concerns typically did not arise until later in the preschool period, and there was a tendency for the condition to run in families—particularly in fathers. Lorna Wing's (14> report of Asperger's work and publication of a series of cases brought wider attention to the diagnostic concept. The validity of this condition, particularly apart from higher functioning autism, remains the topic of much debate. A major complication has been the marked differences in the ways in which the concept has been used and its potential overlap with other diagnostic concepts (e.g. schizoid personality, (!5,) semantic-pragmatic disorder/1.6 and right hemisphere learning problems(!Z)). As a result, the literature on this condition is difficult to interpret, although several areas of potential differences from autism have been identified (e.g. neuropsychological profiles(!.8) and family h¡story(!f.»).

In 1966, Andreas Rett described an unusual syndrome in girls that was characterized by a history of initial normal development, subsequent head growth deceleration, and the development of characteristic clinical findings such as breathing difficulties, movement problems, in addition some features suggestive of autism were present/20 His findings were replicated and extended by Hagberg et al/2.1 As more extensive information became available it was clear that the more 'autistic-like' phase of the syndrome was relative brief, but this is a major rationale for its inclusion in the PDD class. (22)

Recent editions of both ICD and DSM have included a 'subthreshold' category (termed either atypical autism or pervasive developmental disorder or unspecified pervasive developmental disorder). In some ways this notion has historical links to earlier diagnostic concepts. (23> Research here has been less advanced than that for other disorders—no doubt reflecting the problems intrinsic to 'subthreshold' disorders. Several attempts have recently been made to identify potential subgroups within the rather heterogeneous disorder, but none has yet achieved general acceptance.



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