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Childhood Autism: Its Diagnosis, Nature, and Treatment

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Childhood Autism: Its Diagnosis, Nature, and Treatment Archives ofDisease in Childhood 1991; 66: 737-741 737 CURRENT TOPIC Arch Dis Child: first published as 10.1136/adc.66.6.737 on 1 June 1991. Downloaded from Childhood autism: its diagnosis, nature, and treatment Sula Wolff Leo Kanner,I although not the first to describe epidemiological prevalence studies have found this serious and intriguing developmental dis- two to four autistic children in every 10 000, order of early childhood,2 so precisely captured more if severely retarded children with autistic its essential features that the clinical account of features are included.2 his first 11 cases has never been bettered. The There have been several long term follow up salient characteristics he mentioned were an studies of autistic clinic attenders but only two 'extreme autistic aloneness' from the beginning of total population samples.5 6 Gillberg and of life, delay and abnormality in language Steffenburg followed up 23 autistic children and acquisition with echolalia and pronomial rever- 23 with 'other psychoses', often associated with sal, and 'an obsessional desire for the mainte- organic handicapping conditions, to the age of nance of sameness' in the presence of islets of 16-23 years.6 In 17% of both groups outcome normality, in particular an excellent rote mem- was 'good' or 'fair', and in 44% of autistic and ory. He saw the primary deficit as an inborn dis- 70% of other psychotic children it was 'poor' or turbance of affective contact and later described 'very poor'. Among this still quite young group similar, although very mild features of emotio- of subjects only one was self supporting, 23 nal coldness and obsessionality in the parents. lived with parents, 20 in institutions for the Since then research into autism and related handicapped, and one in a psychiatric clinic. developmental disorders has flourished, there is Altogether 35% of the total group (29% of autis- a journal entirely devoted to them and, although tics) had developed epilepsy, 50% between 13 they are so rare, their elucidation promises to and 14 years. One half had deteriorated symto- shed light on many unanswered questions both matically in early adolescence with no difference http://adc.bmj.com/ about normal development of language and between the two groups. A perceptive observa- sociability and about the nature of a number of tion was that, while as children the autistics clinical conditions. were often particularly attractive to look at, Recent growth areas of research have been after puberty their appearance tended to the genetics of autism, the relation between aut- coarsen, often becoming clearly deviant. As in ism and allied clinical syndromes, the nature of previous studies, the best predictors of outcome the psychological dysfunctions of autistic peo- were a preschool measured intelligence quotient on September 29, 2021 by guest. Protected copyright. ple, and the effects of specific treatment inter- (IQ) of 50 or more and the presence of com- ventions. There have also been changes in how municative speech before the age of 6. Epilepsy the condition is perceived and classified in the and fragile X chromosome abnormality were newer systems of diagnostic classification. associated with a worse outcome. Before reviewing recent progress, some basic Although many early symptoms-echolalia, facts must be recalled. social withdrawal, and stereotypies-tend to disappear with age, severe social impairments and abnormalities of language use remain, and- Age of onset, sex, social class incidence, the overall outlook for autistic children is poor. prevalence, and prognosis Nevertheless, that minority whose intelligence Though most cases, as Kanner himself noted, is within the normal range can do surprisingly develop the disorder insidiously from birth, in well despite serious childhood abnormalities. some there is an early period of apparently nor- Szatmari et al found that among 16 autistic chil- mal social and language development followed dren with mean IQ of 92, four had 'recovered' by a set back. Autism is distinguished from at a mean age of 26 years, living independent other pervasive developmental disorders, as we lives and with long term relationships.7 One had shall see, by its onset before 30 to 36 months of married. Eight in all were totally independent, age. More boys than girls are affected (a ratio of six needed only minimal supervision, and seven University Departmen. about 2-5-3:1). The sex ratio is more equal had obtained university degrees. On the other of Psychiatry, when autism is associated with organic brain hand, even among these rare well functioning Royal Edinburgh disease or severe mental retardation. The social autistics, one was profoundly retarded at follow Hospital, Morningside Park, class distribution of families with autistic chil- up, one had chronic schizophrenia, three had Edinburgh EH1O 5HF dren has been found upwardly skewed in some hallucinations, and two paranoid thinking. Two Correspondence to: studies, especially in well functioning autistic were unemployed, three in sheltered work- Dr Wolff. children,3 but not in others.4 A number of shops, and nine had never dated. 738 Wolff Diagnostic classification, diagnostic from disintegrative disorders with their much instruments, diagnostic criteria poorer prognosis (DSM-III-R, still uses the 30 The diagnostic criteria for autism have changed months cut off between early and 'late onset' Arch Dis Child: first published as 10.1136/adc.66.6.737 on 1 June 1991. Downloaded from in emphasis over time8 as the condition has autism). come to be viewed not so much as a psychosis specific to childhood, as in the Intemational Classification ofDiseases, 9th revision (ICD-9),9 Differential diagnosis: the borderlands of but rather as a deviation of multiple develop- autism mental processes. This gave rise to the DSM-III Half of severely retarded children (IQ less than (Diagnostic and Statistical Manual ofMental Dis- 50) have symptoms of autism.'6 Although their orders, 3rd edition) and DSM-III-R (revised educational and treatment needs resemble those edition) concept of 'pervasive developmental of autistic children and they need much one to disorder'"0 11 and contributed to the envisaged one teaching to compensate for their social changes for ICD-1I.'2 Here too autism is classi- unresponsiveness, for research purposes a clear fied as a pervasive developmental disorder. This distinction must be made. For research and concept, like that of the specific developmental practice it is also important to differentiate disorders,'2 involves an onset very early in life, autistic children from those rare cases of disin- impairment of functions related to biological tegrative disorder after a period of at least three maturation, a steady course without appreciable years of apparently normal development. While remissions and relapses, improvement with age, the aetiology of this condition generally remains an increased incidence in males, and an often unknown, it may be caused by progressive, familial association with similar or related dis- degenerative brain disease such as cerebral orders. This concept has justly been criticised as lipoidosis or leucodystrophy. The end state is not in itself logical nor fully applicable to child- usually one of severe mental handicap with no hood autism'3 (autism does not affect all available language. Rett's syndrome may be developmental areas, its course is not always symptomatically indistinguishable from autism steady from birth and, while symptoms because of its early onset, but occurs predomi- change over time, only a few cases improve with nantly in girls and is associated with normal pre- maturation). The diagnostic criteria for autism natal and perinatal development. Rett's syn- itself, however, are clear and there is good evi- drome is also distinguishable by a decrease in dence for their validity.8 A detailed autism head growth after 5 months of age, loss of hand diagnostic observation schedule and an autism skills between 6 and 30 months, and increasing diagnostic interview of excellent reliability and gait and trunk apraxia and ataxia.'7 Doubt has validity, have recently been developed for recently been cast on the assumption that the research purposes by an international research fragile X chromosome abnormality, perhaps the group.'4 15 second most common cause of mental retarda- The diagnosis of autistic disorders, as they tion, is also specifically linked to autism. Payton are now called, rests on three main groups of et al found a 2 4% incidence of this abnormality http://adc.bmj.com/ symptoms: in 85 autistic males, similar to that in a mentally (1) Qualitative impairment and deviance of retarded male population.'8 reciprocal social relationships with abnormali- The differential diagnosis of autism from ties of gaze and social responsiveness to other schizophrenia, specific developmental language people, especially other children. disorders, and Asperger's syndrome (also refer- and red to as schizoid or schizotypal personality dis- (2) Deviant development of language order) is less problematical in clinical practice, other communication skills, with either no lan- issues to be discus- on September 29, 2021 by guest. Protected copyright. guage at all, early onset followed by loss of but raises many aetiological speech, or delayed onset and characteristic lan- sed next. guage features such as immediate and delayed echolalia, pronomial reversal, metaphorical Aetiology expressions and, especially, a failure in language Goodman has clearly summarised
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