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Home , Hans Asperger, Mental disorder

CASE c Robert G. Zylstra, EdD, LCSW; Christopher D. Prater, MD, FAAFP, DABAM; Amy E. Walthour, MD, PhD; Alexandra Feliciano Aponte, MD Department of Family , The University of Tennessee College of Why the rise Medicine, Chattanooga (Drs. Zylstra, Prater, and Walthour); Mayo , in rates? Family Medicine, Jacksonville, Fla (Dr. Feliciano Aponte)

robert.zylstra@erlanger. Our improved understanding of the disorder and org increasingly sensitive diagnostic tools are playing a The authors reported no potential role—but so are some other factors. relevant to this article.

or many years, articles about autism liarities” of 11 children whom he had cared cited prevalence rates of approxi- for.5 While several had been diagnosed with Fmately 7 in 10,000.1 Over the past few mental retardation, childhood schizophre- years, however, there appears to have been nia, or both, what stood out to Kanner was an an explosion in the rate at which autism is “autistic aloneness” evident from the begin- diagnosed: More recent estimates range from ning of life. This was in contrast to childhood about 30 in 10,0002 to one in 68.3 References , in which a child experienced to an autism epidemic appear to have origi- a departure from previously normal interrela- nated in a 2002 California legislative report tions. His contributed to our under- suggesting a 273% increase in autism from standing of what is now recognized as autism 1987 to 1998.4 (ASD). Concerns about rising rates of autism, Also in 1943, Hans Asperger, MD, was however, are not new. In 1943, , studying families with children exhibiting be- MD, a and pioneer in the study haviors similar to those described by Kanner. of autism, published a paper titled, “Autistic The following year, Asperger published an ar- disturbances of affective contact.”5 The result? ticle (in German) describing these children. “Almost overnight, the country seemed to be Unfortunately, this paper—titled “Autistic populated by a multitude of autistic children,” in childhood”7—was not trans- he later observed.6 lated into English until the early 1990s.8 To what should we attribute the current Since Kanner and Asperger first called rise in reported autism rates? Even a casual attention to the disorder, there have been review of the autism literature suggests a numerous changes in societal and medical number of potential causes that may account understanding of autism. Bruno Bettelheim, for at least a portion of the recent increase. PhD, an Austrian-born child with a particular interest in emotionally dis- turbed children, theorized that poor mater- We know more about the disorder nal bonding and lack of maternal affection In his paper, Kanner described the “pecu- were responsible for autistic characteris-

316 The Journal of Family Practice | JUNE 2014 | Vol 63, No 6 tics.9 Bernard Rimland, PhD, a psychologist unifying diagnosis of ASD.17 Significant con- and the father of an autistic child, argued for troversy surrounded this change, with some a biological basis of the disorder.10 Rimland’s viewing it as an oversimplification that does theory of autism as a neurodevelopmental not accurately reflect important distinctions disorder with an unidentified organic etiol- among divergent disorders18 and others argu- ogy is most consistent with current medical ing that it will result in unrecognized cases opinion. and exclusion of affected individuals.19 Nota- bly, a recent study using concurrent DSM-IV and DSM-5 criteria to diagnose autism and Definitions and diagnostic criteria PDD in more than 4000 children document- have evolved ed a high level of agreement between them.20 The first edition of the Diagnostic and Statis- tical Manual of Mental Disorders (DSM) was published in 1952.11 Although it was nearly Diagnostic tools have improved a decade after Dr. Kanner clearly described As the number of children diagnosed with autism as an entity separate from childhood autism has increased, so have efforts to more schizophrenia, the word autism was used in accurately diagnose autism as a distinct this edition only once—to describe psychot- disorder. ic reactions associated with schizophrenia. In the 1960s, guidelines for diagnosing Similarly, autism was referred to only in rela- autism focused primarily on Kanner’s origi- A blood test tion to in the DSM- nal descriptive criteria. Even in the 1980s, to identify II,12 published in 1968. after DSM-III criteria identified autism as a differences in z DSM-III adds diagnostic criteria. In distinct disorder, children were being evalu- gene expression DSM-III (1980),13 specific diagnostic criteria ated with generalized developmental screen- between for infantile autism and pervasive develop- ing tools focused on behaviors characteristic children with (PDD) appeared for the first of a severe mental handicap, without differ- and without time. Both diagnoses were clearly contrasted entiating between autistic and nonautistic ASD has shown with a diagnosis of schizophrenia, and were children. initial promise— used to identify children who exhibited a per- Early autism-specific observational and particularly in vasive lack of responsiveness to others. structured interview tools (eg, Childhood males. The DSM-III-Revised (R) (1987)14 add- Autism Rating Scale,21 Autism Diagnostic In- ed a classification scheme more consistent terview [ADI],22 and Autistic Diagnostic Ob- with the current standard. It included: 1) servation Schedule)23 emerged from a need qualitative impairment in reciprocal social for standardized diagnostic instruments interaction; 2) qualitative impairment in that were comparable and reproducible.24 and imaginative activity; But because these tools were highly specific and 3) restricted activity/interests. and initially studied in research settings with z PDD was also high-risk populations, they lacked the sensi- I mage © carol and mike werner/ mike and carol © mage included, and served to identify those who tivity to identify children at risk in the general had qualitative impairments in social inter- population, particularly those with milder action and communication skills but did not symptoms. meet the full criteria for autism disorder or As the diagnosis of autism became more PDD. standardized following publication of the The publication of DSM-IV (1994)15 DSM III-R in 1987, developmental specialists brought another change: Specific criteria were able to construct increasingly sensitive were outlined for the diagnoses of Asperger evaluation tools. The ADI was revised25 to fa- p ho , , and childhood cilitate earlier and more efficient diagnosis, t o reserarchers, inc. reserarchers, o disintegrative disorders; in the DSM-IV-Text allowing for assessment of children as young Revision (TR) (2000),16 this structure re- as 19 months of age. The Checklist for Autism mained relatively stable. in Toddlers (CHAT)26 and subsequent modi- DSM-5 (2013) took another step, consol- fication (M-CHAT)27 were among the earliest idating these various disorders into a single, and most effective screening tools, appropri-

jfponline.com Vol 63, No 6 | JUNE 2014 | The Journal of Family Practice 317 ate for use in children as young as 16 months Education Act, initially enacted in 1975 and old. amended in 2004.33 Tools that followed the original CHAT Federal and state funds in the form of (eg, the Screening Ques- waivers are available to provide tionnaire [ASSQ]28) were adapted to bet- long-term care services in home and com- ter identify high-functioning children with munity settings, while private insurers typi- , as well as those with cally pay for associated treatment modalities autism. for those with an autism diagnosis, including Another revision of the M-CHAT—the physical, occupational, and speech therapy, M-CHAT-R/F (Revised with Follow-up) was among other services. validated earlier this year. In a study involving Finally, politicians and celebrities with 16,000 children, 95% of those who had posi- personal connections to autism have joined tive tests were found to have some form of the effort to increase awareness and improve developmental delay and almost half (47%) the quality and availability of services—fur- received an ASD diagnosis.29 ther assuring that autism is recognized as a z Other diagnostic aids are being ex- legitimate, definable, and treatable disorder. plored as a means of promoting earlier iden- As an autism diagnosis has become tification of ASD. For example, a blood test to more socially acceptable, it has at times re- identify differences in gene expression be- placed diagnoses of learning and Recent studies tween children with and without ASD30 has mental retardation, a trend known as “diag- suggest that shown initial promise, particularly in males. nostic substitution.”34 Indeed, having a child advanced This test is licensed by SynapDx (Lexington, with an ASD diagnosis often makes it pos- paternal age Mass) and a clinical trial to evaluate it has sible for parents to secure services that might can increase the begun. otherwise be unavailable to them. risk of autism. Results of another study demonstrat- ing normalization of activity in autistic children after they’ve undergone intensive Is the incidence of autism treatment31 raise the possibility of using corti- linked to the environment? cal activation as measured by electroenceph- Numerous environmental, nutritional, and alography as an early for autism. pharmaceutical changes have been cited as reasons for what is perceived as an increasing incidence of autism in recent years. For ex- Treatment options, ample, some contend that greater use of food advocacy affect rate of diagnosis preservatives and greater exposure of young Improvements in diagnosis and targeted children to environmental toxins are contrib- identification of potentially treatable symp- uting factors.35 toms32 led to the development of new treat- z Thimerosal. Perhaps most notable is the ment options. And greater use of day care assertion—since disproven—that thimerosal, a and preschool programs prompted network- substance previously used in the manufacture ing among parents, who touted the benefits of several childhood vaccines, was a leading of early evaluation, diagnosis, and treatment. cause of autism.36,37 In fact, one study docu- Earlier screening, not surprisingly, led to an mented an increase in autism after thimerosal increase in the target population. had been discontinued.38 (For more on the thi- Local as well as national advocacy merosal controversy, see “Autism: 5 misconcep- groups, led primarily by parents, have be- tions that can complicate care” on page 310.) come powerful voices for improvements in z Autism . As autism is fre- services offered to children with autism. And quently comorbid with other developmental research studies with varying degrees of so- , advances in medical technology phistication continue to be published, fur- that have led to a decline in neonatal death ther fueling the demand for school systems to and overall mortality among the disabled provide supportive learning environments as may mean more survivors are subsequently required by the Individuals with Disabilities diagnosed with an autism comorbidity.

318 The Journal of Family Practice | JUNE 2014 | Vol 63, No 6 AUTISM: WHY THE RISE IN RATES?

z Biological factors. Recent studies sug- Table gest that advanced paternal age can increase Autism spectrum disorder: the risk of autism.39 Twin studies suggest moderate genetic , along with Where to learn more a substantial environmental contribution The Arc (formerly the Association of Retarded 40 to the development of autism. And new Citizens): www.thearc.org research suggests that maternal Autism Central (in Canada) during pregnancy—eg, trauma, illness, or http://www.autismcentral.ca/new/index.php/en/ substance —may increase a child’s risk research/best-practises of developing autism, among other psychiat- Autism Research Institute* ric disorders.41 www.autism.com Autism The important role you play www.autism-society.org in the diagnosis of autism National Autism Association† It is clear that autism is more common than http://nationalautismassociation.org previously thought3 and that various fac- * This group provides information about complementary and tors are at work. Ensuring that children are alternative treatments. promptly and properly evaluated begins † Complete list of state chapters can be found here. when primary care physicians take parents’ concerns seriously and keep an eye out for Puberty is common symptoms and characteristic devel- medical therapy directed at co-occurring con- another opmental delays that may be evident even in ditions (ie, a mood or disorder, includ- time when the first year of life. ing obsessive-compulsive disorder) may also characteristics If symptoms are not severe enough to be provide significant benefit. suggestive of detected in the child’s first several years, the Whatever the age of the child, his or her autism that next likely presentation will be when a parent parents should be counseled as to the general escaped earlier gets a call from school suggesting that their nature of autism, reassured of the availability detection may child be tested for autism. While this delayed of treatment options and given the appropri- be noted. presentation suggests a higher level of func- ate referrals, and encouraged to learn more by tioning, a full evaluation, including the use availing themselves of resources (TABLE) and of questionnaires such as the Social Respon- support groups. A consumer update from the siveness Scale42 and ASSQ,28 and appropriate US Food and Administration titled “Be- referrals are still vital. ware of false or misleading claims for treating Puberty is another time when character- autism” (http://www.fda.gov/ForConsumers/ istics suggestive of autism that escaped earlier ConsumerUpdates/ucm394757.htm) will be detection may be noted, and vague behavioral helpful for many parents, as well. JFP issues or concerns about intellectual impair- CORRESPONDENCE ment may become sufficiently troublesome to Robert G. Zylstra, EdD, LCSW, Department of Family prompt a thorough evaluation. While behav- Medicine, The University of Tennessee College of Medicine, 110 East Third Street, Chattanooga, TN 37403; robert. ioral therapy can be very helpful in such cases, [email protected]

References 1. Prater C, Zylstra R. Autism: a medical primer. Am Fam Physi- in California: a comprehensive pilot cian. 2002;66:1667-1674. study. State of California Department of Developmental Ser- 2. Nassar N, Dixon G, Bourke J, et al. Autism spectrum disorders vices Web site. Available at: http://www.dds.ca.gov/Autism/ in young children: effect of changes in diagnostic practices.Int docs/study_final.pdf. Accessed May 1, 2014. J Epidemiol. 2009;38:1245-1254. 5. Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217-250. 3. Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators; Centers for Control 6. Kanner L. Infantile autism and the . Behav Sci. and Prevention (CDC). Prevalence of autism spectrum disor- 1965;10:412-420. der among children aged 8 years - Autism and Developmental 7. Asperger H. Die ‘autistischen psychopathen’ im kindesalter. Disabilities Monitoring Network, 11 sites, United States, 2010. Archiv für Psychiatrie und Nervenkrankheiten. 1944;117: MMWR Surveill Summ. 2014;63:1-21. 76-136. 4. Report to the legislature on the principle findings from the 8. Frith U. Autism and Asperger Syndrome. Cambridge, UK: Cam-

jfponline.com Vol 63, No 6 | JUNE 2014 | The Journal of Family Practice 319 bridge University Press; 1991. 27. Robins DL, Fein D, Barton ML, et al. The Modified Checklist 9. Bettelheim B. The empty fortress: Infantile autism and the birth for Autism in Toddlers: an initial study investigating the early of the self. New York: Free Press; 1972. detection of autism and pervasive developmental disorders. J Autism Dev Disord. 2001;31:131-144. 10. Rimland B. Infantile autism: The syndrome and its implications for a neural theory of behavior. New York: Appleton-Century- 28. Ehlers S, Gilberg C, Wing L. A screening questionnaire for Crofts; 1964. Asperger syndrome and other high-functioning autism spec- trum disorders in school age children. J Autism Dev Disord. 11. American Psychiatric Association. Diagnostic and Statistical 1999;29:129-141. Manual of Mental Disorders. Washington, DC: American Psy- chiatric Association; 1952. 29. Robins DL, Casagrande K, Barton M, et al. 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