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Epidemiology of Autistic Disorder and Other Pervasive Developmental Disorders

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Epidemiology of Autistic Disorder and Other Pervasive Developmental Disorders Epidemiology of Autistic Disorder and Other PDDs Epidemiology of Autistic Disorder and Other Pervasive Developmental Disorders Eric Fombonne, M.D., F.R.C.Psych. Is the incidence of autistic disorder and other pervasive developmental disorders (PDDs) increas- ing? Recent epidemiological surveys of autistic disorder and other PDDs have heightened awareness of and concern about the prevalence of these disorders; however, differences in survey methodology, particularly changes in case definition and case identification over time, have made comparisons be- tween surveys difficult to perform and interpret. Recent surveys suggest that the rate of all PDDs is about 60 per 10,000. The prevalence of autism today is estimated at 13 per 10,000, Asperger’s disor- der is approximately 3 per 10,000, and childhood disintegrative disorder is very rare at about 0.2 per 10,000. The assessment process, sample size, publication year, and geographic location of studies all have an effect on prevalence estimates. In addition, data from many of these surveys indicate corre- lates of autistic disorder and other PDDs with IQ, gender, and other medical disorders. (J Clin Psychiatry 2005;66[suppl 10]:3–8) pidemiological surveys of autistic disorder and relied on existing databases32,38 while others sent brief let- E other pervasive developmental disorders (PDDs) ters or checklists to speech therapists, teachers, health care have been conducted for nearly 40 years, but the number professionals, and family members. Some surveys3,17,20,24,32 of studies has increased in recent years. This review covers included only cases already identified by education or the 34 surveys1–34 reporting data on the prevalence of autis- health care professionals, while others1,13,19,22,31,34,40 in- tic disorder and 6 others providing data on the whole spec- cluded the entire population of a given geographic area. trum of PDDs35–38 or on Asperger’s disorder39,40 that have Other screening variables, such as whether or not health been conducted in 14 countries and published in English- care professionals were trained to detect PDDs during sys- language journals to date. The median population was tematic health visits, whether parental permission to par- 65,000 (range, 1941–4,950,333) and primarily included ticipate was denied, and what types of information were school-aged children (median age = 8.0 years; range, 0–20 requested, added to the variety of methods used to discern years). The assessment process varied from study to study, suspected PDDs. Because the sensitivity of the screening but overall, the number of subjects determined to have au- method used is difficult to determine in autism surveys, tistic disorder ranged from 6 children18 to 5038 children32 it is probable that children who have a PDD may screen across studies (median = 50; mean = 220). negatively. Estimations of false negatives were not per- formed in the surveys because the low frequency of autism METHODOLOGY would render estimates of sensitivity imprecise and costly to perform. The implication is that some children with a Differing methods of identifying cases of possible au- PDD are not detected, so the prevalence estimates derived tism or related disorders were used in the surveys, but from each survey must be considered to be underestimates most incorporated a screening stage and a diagnostic stage. of the actual prevalence rate. Screening methods used to identify possible cases of In a second phase, the diagnostic stage, children who autism varied from study to study. Some investigators screened positively in the first stage enter a confirmatory phase whereby investigators determine whether or not these children meet criteria for a diagnosis of autism or From the Department of Psychiatry, McGill University, and other kinds of PDDs. The assessment process used in this the Department of Psychiatry, Montreal Children’s Hospital, stage also varies from survey to survey. Some investiga- Montreal, Quebec, Canada. This article is derived from the teleconference series “The tors review the medical record and the information at hand Management of Autism and Its Related Disorders,” which and make a judgment about a particular child. In other, was held February 10–April 21, 2005, and supported by an more comprehensive surveys, a specialist team directly educational grant from Janssen Medical Affairs, L.L.C. Corresponding author and reprints: Eric Fombonne, M.D., assesses the child, interviews the parents, and employs a F.R.C.Psych., McGill University, Canada Research Chair in structured diagnostic tool such as the Autism Diagnostic Child Psychiatry, Montreal Children’s Hospital, 4018 Ste. 41 Catherine W., Montreal, QC H3Z 1P2, Canada Interview (ADI) or the Autism Diagnostic Observation (e-mail: [email protected]). Schedule (ADOS).42 J Clin Psychiatry 2005;66 (suppl 10) 3 Eric Fombonne Table 1. Asperger’s Disorder in Recent Autism Surveysa Autistic Disorder Asperger’s Disorder Study (year) N Prevalence Rate/10,000 N Prevalence Rate/10,000 Autism/Asperger’s Ratio Sponheim and Skjeldal23 (1998) 32 4.9 2 0.3 16.0 Kadesjö et al40 (1999) 6 72.6 4 48.4 1.5 Powell et al26 (2000) 54 … 16 … 3.4 Baird et al25 (2000) 45 30.8 5 3.1 9.9 Chakrabarti and Fombonne30 (2001) 26 16.8 13 8.4 2.0 Overall 163 40 4.1 aAdapted with permission from Fombonne.52 Diagnostic criteria have changed over time according to had autistic disorder. In the course of their investigations, changes in the classification system. Cases of PDDs re- researchers met many children who had developmental ported in the 1960s were primarily assessed using Kanner’s problems similar to those identified in children with au- criteria.43 Lotter’s44 and Rutter’s45 definitions and the tism but who failed to meet full diagnostic criteria for the ICD-9,46 used in the 1970s, were replaced by the DSM-III47 disorder. These children were not studied extensively in and DSM-III-R48 in the 1980s. Over the last 15 years, new the first surveys, but were eventually described as having cases have been defined by the DSM-IV49 and ICD-10.50 “other psychoses”2 and were labeled “the socially im- Evolving case definitions and differing diagnostic criteria paired”4 or “autistic-like.”5,9 The number of children so la- are important factors that affect the epidemiology of autism beled was sometimes as high as or higher than the number and other PDDs. Most surveys, however, have relied on the of children identified as having autistic disorder. Recent clinical judgment of experts to determine case groupings. studies28,30,33,34 confirm that atypical forms of autism are more frequent than instances of children meeting strict cri- PREVALENCE ESTIMATES teria for autism. OF AUTISTIC DISORDER Another atypical form of PDD—childhood disintegra- tive disorder (CDD)—is rare. Only 6 surveys9,23,29,30,34,51 The median prevalence for autistic disorder across have reported children meeting criteria for CDD. These the 34 autism surveys was 8.7 per 10,000 (range, 0.73 to children developed normally up to the age of about 3 years 46.422). A wide confidence interval indicated a large vari- and then regressed profoundly, culminating in severe au- ability in the precision of estimates across surveys, i.e., tism with severe mental retardation. On the basis of these a negative correlation existed between the sample size and surveys, the rate of CDD is estimated to be about 1 or 2 per the prevalence rate. Studies based in large populations ap- 100,000 children. The lack of diagnosed cases makes this peared to be more precise than those in smaller popula- rare condition difficult to study. tions. Studies with a limited sample size tended to have the Asperger’s disorder was introduced in the ICD-10 largest prevalence rates, while large studies tended to have in 1992 and in the DSM-IV in 1994. Two Scandinavia- lower prevalence rates on average. based epidemiological surveys39,40 were conducted on Another correlate of the prevalence of autism is the pub- small populations in the 1990s, and each survey described lication year. Surveys published between the mid-1960s 4 cases of Asperger’s disorder. Because of the small and mid-1970s1,2,4 estimated that 4 children per 10,000 sample size, however, the confidence interval was so wide had autism, while prevalence estimates of autism in more that it is very difficult to draw any meaningful inferences recent surveys have been much higher. By excluding stud- from these 2 surveys. By contrast, a comparison52 of re- ies that were imprecise,18,22 had a limited sample size, and cent surveys that classified children as having either au- were conducted prior to 1987,3,5–8 the range of prevalence tism or Asperger’s disorder showed that the number of of autistic disorder in the remaining studies that reported children meeting criteria for Asperger’s disorder was con- data on the prevalence of autistic disorder9–17,19–21,23–34 and 6 sistently lower than that of those meeting criteria for autis- others providing data on the whole spectrum of PDDs35–40 tic disorder in the same survey (Table 1). Overall, these varied from 11 to 18 per 10,000. On the basis of these data, surveys suggested a prevalence of Asperger’s disorder a conservative estimate of the prevalence of autism today is about one fourth that of autism. More studies are required 13 per 10,000 (a true estimate would be higher because on the epidemiology of Asperger’s disorder to support this some children have been missed). estimate. ATYPICAL FORMS OF AUTISM PREVALENCE ESTIMATES OF ALL PDDS Beginning with the earliest surveys, investigators tried Overall prevalence estimates for autistic disorder, to apply strict diagnostic criteria to delineate children who Asperger’s disorder, CDD, PDD-NOS, and all PDDs are 4 J Clin Psychiatry 2005;66 (suppl 10) Epidemiology of Autistic Disorder and Other PDDs Figure 1.
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