• 86 • Taiwanese Journal of Psychiatry (Taipei) Vol. 28 No. 2 2014 Overview DSM-5 on Epidemiological and Genetic Studies of Autism Spectrum Disorder in Taiwan Luke Y. Tsai, M.D.* This overview reviews the evolution of the defi nition and diagnostic criteria of autism spectrum disorder (ASD). The author starts to introduce the work on early infantile autism by Leo Kanner and the work on autistic psychopathy by Hans Asperger. Then, he describes how infantile autism is defi ned in ICD-9-CM, and pervasive developmental disorders in DSM-III and DSM-III-R, how autistic disorder and Asperger’s disorder as subtypes of pervasive developmental disorders in DSM-IV, as well as how ASD as a single category is listed in DSM-5. With all those background information, the author warns the impacts of DSM-5 ASD on future studies of ASD epidemiology and genetics in Taiwan. Overall, it seems that the implementation of DSM-5 ASD may cause more negative results than provides positive infl uences. Investigators of ASD in Taiwan must be mindful of the poten- tially negative impacts caused by the DSM-5 ASD. Key words: DSM-IV, ICD-10, autism spectrum disorder, Asperger’s disorder (Taiwanese Journal of Psychiatry [Taipei] 2014; 28: 86-94) our society. In 1980, the DSM-III [2] moved from Introduction a descriptive or conceptual approach to an opera- tionalized, criteria-defi ning approach to enable To facilitate validation of psychiatric disor- clinicians to make diagnoses based on whether a ders, Robins and Guze [1] proposed a process patient’s symptoms matched the diagnostic crite- which included the following phases: clinical de- ria. The DSM-III also intended to establish a high- scriptions, laboratory studies, follow-up studies, er degree of diagnostic consistency or reliability and family studies. The evolution of the American within the psychiatric community. The expecta- Psychiatric Association’s (APA) Diagnostic and tion of DSM-III and subsequent DSM-III-R [3], Statistical Manual of Mental Disorder (DSM) has DSM-IV [4], and DSM-IV-TR [5] was that DSM- closely followed such process. Initially the DSM based research would identify the underlying eti- was developed for psychiatrists who were inter- ologies of the disorders included in the manuals, ested in describing and understanding the fre- which would allow greater refi nement of the crite- quency with which mental illnesses developed in ria and ultimately their validation by the biologi- Departments of Psychiatry and Pediatrics, University of Michigan Medical School Ann Arbor, Michigan, U.S.A. Received: May 6, 2014; accepted: May 6, 2014 *Corresponding author. 2385 Placid Way, Ann Arbor 48105, Michigan, U.S.A. E-mail: Luke Y. Tsai <[email protected]> Tsai LY • 87 • cal measures and etiologies which in turn can lead sistence on sameness. He adopted the term early to specifi c treatments and even prevention or infantile autism to describe this disorder and cures. But from DSM-III to DSM-IV-TR, the prog- called attention to the fact that its symptoms were ress of research has not led to the defi nitive iden- already evident in infancy. tifi cation of etiologies or the validation of proven biological measures to defi ne the mental disor- Hans Asperger’s autistic psychopathy ders. Now DSM-5 has been developed and offi - Hans Asperger was also born and educated in cially launched in May 2014 [6]. This overview Austria. He was trained as a pediatrician but was focuses only on how and what impact the new later appointed as the director of the Unit for DSM-5 would have on the autism spectrum disor- Special Education at the Children’s Hospital. In der (ASD) 1944, after more than a decade of working at the hospital, he described four boys, aged 6 to 11 Evolution of Defi nition and years, in his German postgraduate thesis, “Die Diagnostic Criteria of Autism Autistischen Psychopathen im Kindesalter” Spectrum Disorder (Autistic Psychopathy in Childhood) [8]. He noted that all his cases exhibited autistic Before discussing the impact on the ASD by withdrawal, a symptom usually seen in schizo- the newly published DSM, it is necessary to re- phrenic patients. Asperger was not aware of view the history of the changes of the defi nition Kanner’s work and the paper published in 1943. and diagnostic criteria of ASD over the years. Both Kanner [7] and Asperger [8] independently used Bleuler’s [9] earlier term “autism” to de- Leo Kanner’s early infantile autism scribe the core clinical feature of their disorders. In 1943, Leo Kanner [7], published his now But Asperger did not consider his newly discov- classic paper, “Autistic Disturbance of Affect ered disorder a form of psychosis. In fact, he ap- Contact,” which described a group of 11 physi- pears to have used the term “psychopathy” to de- cally normal children with a previously unrecog- scribe a personality disorder, consistent with the nized disorder. He noted many characteristic fea- meaning of the word in German, since, while dis- tures in these children, such as an inability to cussing the paper, he stated that those patients suf- develop relationships with people, extreme aloof- fered “with the type of personality disorder pre- ness, a delay in speech development, and non- sented here.” communicative use of speech. Other features in- According to Asperger, individuals with au- cluded repeated simple patterns of play activities tistic psychopathy usually began to speak at ap- and islets of ability. He described these children as proximately the same time as children without having “come into the world with innate inability this disorder. A full command of grammar was to form the usual, biologically provided affective acquired sooner or later although some children contact with people” [7, p. 250]. showed diffi culty in using pronouns correctly. But Despite the variety of individual differences the content of speech was usually abnormal and that appeared in the case descriptions, Kanner be- pedantic and consisted of lengthy disquisitions on lieved that only two features were of diagnostic favorite subjects. Often a word or phrase was re- signifi cance: autistic aloneness and obsessive in- peated over and over in a stereotyped fashion. • 88 • Autism Spectrum Disorder in DSM-5 Other features he described were impaired two- Statistical Manual of Mental Disorders (DSM), way social interaction, totally ignoring demands 2nd Edition [12]. Although in DSM-II diagnostic of the environment, repetitive and stereotyped information for childhood schizophrenia, there play, and isolated areas of interests. Asperger ob- were a number of symptoms similar to that being served these children talking back at teachers, described as features of Kanner’s syndrome and sometimes verbally abusing and hitting other chil- Asperger’s disorder (e.g., autistic, atypical and dren, and lashing out at objects. Some of them withdrawn behavior” (p. 35), they were not equiv- seemed to gain pleasure from their actions with no alent to the diagnostic features of Kanner’s syn- regard for the feelings of others or the conse- drome and Asperger’s disorder. quences of their actions. Asperger believed that Infantile autism fi rst appeared in DSM-III the condition was never recognized in infancy and and ICD-9-CM [13]. Both the diagnostic systems early childhood and that those with the syndrome had similar defi nitions and diagnostic criteria for had excellent, logical abstract thinking and were infantile autism. But they differed in the way they capable of originality and creativity in chosen conceptualized the disorder. In ICD-9-CM, infan- fi elds. The case histories also indicated the pres- tile autism was classifi ed as a subtype of “psycho- ence of developmental delay and/or social and be- ses with origin specifi c to childhood,” whereas in havioral diffi culties from an early age. DSM-III, infantile autism was viewed as a type of Asperger subtly changed his descriptions of pervasive developmental disorders (PDDs) (de- his syndrome over the years, perhaps affected by fi ned as a group of severe, early developmental the opinions of other authors. In his later paper disorders characterized by delays and distortions [10], he emphasized the high intelligence and spe- in the development of social skills, cognition, and cial abilities in areas of logic and abstraction, communication). whereas, in 1944, he had specifi ed that his syn- In DSM-III, the diagnosis of infantile autism drome could be found in people of all levels of required that the features associated with infantile intelligence, including those with mental retarda- autism (i.e., social problems, communication dif- tion. Asperger’s work remained relatively un- fi culties, and bizarre behavior) be present within known in English-speaking countries until 1981 the fi rst 30 months of life. A childhood-onset PDD when Lorna Wing, a British psychiatrist, pub- subtype was also included where symptoms ap- lished an infl uential review of the topic and added peared after 30 months but before 12 years of age, a series of her own [11]. and did not meet all the symptoms for infantile autism. Thus, DSM-III covered the major areas of Infantile Autism in ICD-9-CM developmental concern fi rst described by Kanner and Pervasive Developmental [7], but allowed for later development and for a Disorders in DSM-III and residual state. DSM-III-R When DSM-III was published in 1980, Asperger’s disorder was unknown in the English Despite Kanner’s [7] and Asperger’s [8] literature. Hence, DSM-III did not include clear elucidation of apparently new disorders, Asperger’s disorder as a subtype of PDD. both early infantile autism and autistic psychopa- However, when DSM-III-Revised appeared in thy were not included in the Diagnostic and 1987, Asperger’s work was fairly well-known to Tsai LY • 89 • professionals in the fi eld of PDD in European individuals.