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The clinical spectrum of autism
Susan E. Folstein
Johns Hopkins School of Medicine, 111 Hamlet Hill Road, 406 Baltimore, MD 21210, USA
Abstract Autism, as deﬁned by Kanner in 1943, required two features: the abnormal development of social relationships and the obsessive desire for the maintenance of sameness. This deﬁnition was applied only to children without dysmorphic features (except macrocephaly) and without profound mental retardation. This deﬁnition resulted in a strongly familial disorder. Family members of such cases have not only strictly deﬁned autism but the milder Pervasive Developmental Disorder, Not Otherwise Speciﬁed (PDDNOS), and Asperger syndrome as well as milder social dysfunction, obsessional personality characteristics, language and reading disorders, and anxiety and depression. Some of these conditions have come to be called ‘‘autism spectrum disorders’’. Family members of strictly deﬁned autism cases do not tend to have mental retardation, even when the proband with autism may have marked cognitive impairment and limited language. Another group of children that often meet modern criteria for autism and PDDNOS are those with profound mental retardation (IQ < 35 or 40), children with dysmorphic facial features, speciﬁc genetic conditions, such as tuberous sclerosis or Retts syndrome, and children who have suﬀered certain kinds of severe encephalitis at an early age. These children are etiologically very heterogeneous and need to be considered separately in studies of etiology and mechanism. Ó 2006 Association for Research in Nervous and Mental Disease. Published by Elsevier B.V. All rights reserved.
Keywords: Clinical features; Diagnosis; Autism spectrum
1. Leo Kanner Leo Kanner (1894–1981) was born in Austria and studied Literature at the University of Berlin. During World War I, he was trained as a medic in the army, and after the war he studied medicine, also at the University of Berlin. He received his Bachelor of Medicine (MB) in 1919, and completed his MD thesis in cardiology in 1920. He practiced in Berlin through 1923, when he immigrated to the United States, having obtained a position at Yankton State Hospital in South Dakota. He worked there until 1929, when he was accepted in the psychiatry residency in Adolph Meyer’s department at Johns Hopkins Hospital in Baltimore. He became interested in children, and in 1933 he moved to the Department of Pediatrics where he established the ﬁrst division of Child Psychiatry in an academic setting. Earlier, there were specialists in children’s emotional diﬃculties as part of the mental hygiene
movement, but these were not in academic settings. Kanner also wrote the ﬁrst English language textbook in Child Psychiatry, which was ﬁrst published in 1935  and went through a number of editions, the last published in 1979. 2. Autistic disturbances of aﬀective contact In 1943, he published a paper in the second volume of a short-lived journal called The Nervous Child called ‘‘Autistic Disturbances of Aﬀective Contact’’ . The paper described 11 children who had a ‘‘unique syndrome not heretofore reported’’ (Fig. 1). He proposed two criteria. (1) ‘‘The outstanding pathognomonic fundamental disorder is the children’s inability to relate themselves in the ordinary way to people and situations from the beginning of life.’’ (2) ‘‘The child’s behavior is governed by an anxiously obsessive desire for the maintenance of sameness that nobody may disrupt’’ (Fig. 2). Such children had been described before as individual cases (e.g., ), but no one had brought together a case
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1566-2772/$ - see front matter Ó 2006 Association for Research in Nervous and Mental Disease. Published by Elsevier B.V. All rights reserved. doi:10.1016/j.cnr.2006.06.008
what use it has. Folstein / Clinical Neuroscience Research 6 (2006) 113–117 Rigid Socially Awkward Language impaired Asperger Rigid Autism PDD Socially Awkward Language impaired Fig. The next year. Overlap of autism spectrum disorders with Kanner’s autism. In recent years. and never seems glad to see father or mother or any playmate. He does not observe the fact that anyone comes or goes. and particularly do not engage in social play or imaginative play. Large gene defects autism. this term has come to be used to designate those children with autism who have normal onset of speech and generally normal intelligence  (Table 1). Kanner’s ﬁrst criterion Children with autism have an innate diﬃculty in understanding the nature of human interaction. he just wouldn’t pay any attention. He has no apparent aﬀection when petted. He called the condition ‘‘infantile autism’’ because it began early in life and because the children’s lack of interested in other people reminded him of a similar feature of schizophrenia.’’  ‘‘Until the last year. series and articulated how these children diﬀered from others with mental retardation or language disorders. and how to go about it. as described by Eugen Bleuler . Dysmorphisms.E. 3. Known causes. The autism spectrum as seen in family members. ‘‘He seems self-satisﬁed. Kanner’s Autism Asperger syndrome Milder “spectrum” disorders Other cases now included as autism and PDD are genetically unrelated to Kanner’s autism. They may be quite interested in certain objects. They also relate strangely to objects. Hans Asperger  published a series of four very similar cases in German that he called ‘‘autistic psychopathy’’. He seldom comes when called. The only diﬀerence between the two sets of cases is that Asperger did not include any children who had no speech.114 S. Fig. When we had guests. but they do not play with them in the usual way. Many cases now included as autism and spectrum disorders are genetically related to Kanner’s Severe MR. . he mostly ignored other people. 2. 1.
which diﬀers in that it also includes motor repetitions. They often (although not always) become anxious when their parents are not present. Prosody and pragmatics Although prosody and pragmatics are often included as aspects of language. although he clearly described the unique features of their speech. This may not always be obvious on ﬁrst meeting. language becomes somewhat more ﬂexible.S. . . of a pattern. 5. make up a story. It is important to emphasize that autistic children are usually attached to their parents. once asked him. 4. abnormal language development is the second of the three criteria. Unlike typical children. A variation of this has become the third DSM-IV criterion. he began showing more interest in observing them. can drive him to despair’’ . inﬂexible meaning. trying to teach him to say ‘yes’ and ‘no’. he always start with the same face uppermost. Kanner did not include language in his criteria for autism. The social use of language. Folstein / Clinical Neuroscience Research 6 (2006) 113–117 Table 1 Some of the autism spectrum disorders unrelated to Kanner’s autism Speciﬁc genetic conditions Phenylketonuria (PKU) Tuberous sclerosis Neuroﬁbromatosis Fragile X Retts syndrome Other PX dysmorphic features 15q11–12 maternal duplication Microcephaly Infections Congenital rubella Herpes encephalitis Malaria encephalitis 115 ‘‘When he spun a block. 43% meet criteria for OCD . He acted as if people weren’t there at all. The word ‘yes’ meant that he wanted his father to put him up on his shoulder. They depend on their parents entirely to understand and interpret their needs as well as interpret the world around them. ‘‘Do you want me to put you on my shoulder? If you want me to. but they are just as often ‘‘stored’’ and uttered at a later date. and may show aﬀection in a stilted way. They have such diﬃculty with putting social events in sequence that they cannot usually be persuaded to report much about their day at school. 6.’’’ Eventually. Kanner did not include structural language because it is so variable in autism – some children he diagnosed had no speech at all and others achieved entirely normal grammar and syntax. . he included as part of the social abnormalities. In DSM-IV. sentences. His father. it took a long time before they began to put words together .E. Indeed if. say. They are sometimes echoed immediately. albeit in a peculiar way. Classically autistic children cannot tolerate change of any type. of the order in which everyday acts are carried out. either in their physical environment or in the sequence of activities during the day. with great diﬃculty using their language in a social context. When he threaded buttons. and many of their routines meet criteria for compulsions. Kanner described the children’s early attempts to communicate: ‘‘Aside from the recital of sentences contained in the ready-made poems or other remembered pieces. they are quite distinct from vocabulary He looked curiously at small children and then would go oﬀ all alone. but even very able persons with autism tend to use the same phrases. pragmatics and prosidy. About a year ago. But usually people are an interference. Interest in social interaction gradually increases in those children who develop considerable language. When their routines are disrupted. The list of language features that can qualify for a diagnosis are a mixture of structural language and social use of language. He doesn’t want me to touch him or put my arm around him. even with his grandparents. he’ll push them away. Children who have normal onset of speech are now called ‘‘Asperger Syndrome’’. When sentences are ﬁnally formed. he arranged them in a certain sequence that had no pattern but happened to be the order used by his father when he ﬁrst had shown them to Donald’’ . Language in autism Interestingly. and even paragraphs. He’ll push people away from him. Second criterion Kanner’s second criterion was the ‘‘anxiously obsessive desire for the maintenance of sameness’’. repeatedly. If people come too close to him. one does not require obsessions (most autistic children cannot tell you the thoughts driving their compulsive behaviors). but he’ll come and touch me’’ . Changes of routine. but they nearly always remain socially awkward. ‘Yes. or even understand the plot of stories read to them. autistic children become so anxious that they have tantrums. albeit not always at the normal time. literal.’’ ‘‘Words to him had speciﬁc. They talk about things that are of no interest to others and have no idea when to allow another person a conversational turn. would even go up to them. like DSM-IV. of furniture arrangement. they do not show their parents things they are interested in or proud of or share information of interest to them. they are for a long time mostly parrot-like repetitions of heard word combinations.
Fink B. 7. syntax.E. Gilman SE. 1935.. such as maternally transmitted duplication of chromosome 15q11–12.  Tadevosyan-Leyfer T. Gottesman I. McMahon WM. Hein J. Autistic disturbances of aﬀective contact. still others are caused by early severe infections. to be alert and to show interest in things (although not people). J Child Psychol Psychiatry 1999. or untreated phenylketonuria).  Asperger H. G.6% of the other adults had similarly aﬀected siblings . Yuzda E. Landa R. Ritvo ER. or language/reading disorders. Archiv fur Psychiatrie und Nervenkrankheiten 1944. Spectrum disorders etiologically unrelated to Kanner’s autism The autism diagnosis is now applied to a much broader range of cases including those who have profound mental handicap. and speciﬁc etiologies. It also includes the ability to understand when another person is bored with the topic. Kanner’s exclusions Kanner did not diagnose autism in every child who had social impairment or repetitive behaviors. we contacted as many of the ﬁrst 100 families diagnosed by Kanner and asked their mothers about their other children. Some of these are conditions with both particular physical features or a known etiology (such as Fragile X syndrome. Textbook of Psychiatry (translated by AA Brill). the siblings tend to have unusually high intelligence [10. Those children without speech performed well on visual–spacial tasks and puzzles. more aﬀected family members. such as gestures related to greeting and parting. Gayle J.25(1):63–77. higher IQ and better outcomes . which is used to indicate friendliness. Wzorek MM. The spectrum of features found in families of cases meeting Kanner’s criteria Autism. Child Psychiatry. Simonoﬀ E.  Ssucharewa GE.117:76–136. Psychol Med 1981.  Bailey A. A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. Bacalman S. The children Kanner diagnosed needed to ‘‘look’’ intelligent. Predictors of cognitive test patterns in autism families. dysmorphic features. In contrast. Lainhart J. We took similar histories from the mothers of adults with autism who met DSMIII-R criteria. and includes the ability to understand the information needed by ones conversational partner in order to understand your message. Chase G. which appeared in 1926 in the Monatsschrift fur Psychiatrie und Neurologie 60:235–61. Springﬁeld IL CC Thomas Publishing Co.  Kanner L. It is important to note that mental retardation is quite uncommon among the siblings of strictly diagnosed autism cases. Landa R. in press. Fully 36% of siblings of Kanner’s cases had autism. Davis N Dinh E. Those without dysmorphic features (except for macrocephaly) had a higher male:female ratio.11]. and morphology (see Tager-Flusberg for deﬁnitions) and are present even in very young children who yet have few or even no words. attention. and know when to relinquish ones conversational turn.29:177–83. 4th ed. Bolton P. Le Couteur A. 1924. Prosody is deﬁned as the nonverbal aspects of communication and includes such things as tone and volume of voice to indicate emotion. Jenson WR. The ﬁrst account of the syndrome Asperger described? Translation of a paper entitled Die schizoiden Psychopathien im Kindesalter by Dr.  Bleuler E. such as congenital rubella. about 60%–65% are both aﬀected but if milder forms are included the proportion increases to 90% . 2006.13]. Am J Psychiatry 1989. herpes encephalitis. below perhaps 35 or 40. 9.  Piven J. Santangelo SL. 8. While the recurrence risk for autism in a family who has an autistic child is probably about 10% or less. or cerebral malaria [12. Wzorek M. Psychol Med 1995. If only strictly diagnosed autism is included.. regardless of the level of structural language. comparing cases with and without dysmorphic features. Folstein S. Folstein / Clinical Neuroscience Research 6 (2006) 113–117 grammar. The diﬀerences were striking. only 6. Yokota A. Die ’Autistischen Psychopathen’ im Kindesalter. J Autism Dev Disord. as well as language and reading difﬁculties among siblings. They are universally abnormal in autism. or boredom. Retts syndrome. The Nervous Child 1943. Mo A.40(7):1117–28. gestures used to qualify or elaborate a message or as social niceties. If he had included profoundly retarded children. scientiﬁc assistant. others are children with no named syndrome but have detectable cytogenetic abnormalities. as deﬁned by Kanner. References  Kanner L. it is more common to see Asperger’s syndrome and milder social awkwardness. J Am Acad Child Adolesc Psychiatry 1990. Asperger’s syndrome: a clinical account.  Wing L. . Some years ago.11(1):115–29. New York: MacMillan.116 S.5(3):119–32. Lainhart JE. Autism as a strongly genetic disorder: evidence from a British twin study. Folstein SE.  Folstein SE. Comorbid psychiatric disorders in children with autism: interview development and rates of disorders. It also includes the use of eye contact.. He excluded children who had dysmorphic features or very low IQ. Psychometric assessment of ﬁrst-degree relatives of 62 autistic probands in Utah. Ssucharewa. Pingree C. Mason-Brothers A. Tager-Flusberg H. In fact. Schroth P. Indeed.146(3):361–4. severe social dysfunction (now called Asperger syndrome). Pragmatics is closely related. The numbers exceeded 50% when medication-treated mood disorders were included. Rutter M. Piven J. Wolﬀ S. it would have been much more diﬃcult to make the distinction between autism and mental retardation. A similar spectrum of conditions is seen in monozygotic twins.  Freeman BJ. Morgan J.E. 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