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American Family Physician Autism: A Medical Primer CHRISTOPHER D. PRATER, M.D., and ROBERT G. ZYLSTRA, ED.D., L.C.S.W. University of Tennessee College of Medicine, Chattanooga, Tennessee Autistic disorder, a pervasive developmental disorder resulting in social, language, or sensori- motor deficits, occurs in approximately seven of 10,000 persons. Early detection and inter- O A patient infor- vention significantly improve outcome, with about one third of autistic persons achieving mation handout about autism, written some degree of independent living. Indications for developmental evaluation include no bab- by the authors of this bling, pointing, or use of other gestures by 12 months of age, no single words by 16 months article, is provided on of age, no two-word spontaneous phrases by 24 months of age, and loss of previously page 1680. learned language or social skills at any age. The differential diagnosis includes other psychi- atric and pervasive developmental disorders, deafness, and profound hearing loss. Autism is frequently associated with fragile X syndrome and tuberous sclerosis, and may be caused by lead poisoning and metabolic disorders. Common comorbidities include mental retardation, seizure disorder, and psychiatric disorders such as depression and anxiety. Behavior modifica- tion programs are helpful and are usually administered by multidisciplinary teams; targeted medication is used to address behavior concerns. Many different treatment approaches can be used, some of which are unproven and have little scientific support. Parents may be encouraged to investigate national resources and local support networks. (Am Fam Physician 2002;66:1667-74,1680. Copyright© 2002 American Academy of Family Physicians.) See page 1591 ecognition of the disorder for definitions of called autism may have its ori- Definition strength-of-evidence gin in Itard’s 1801 description levels. Autistic disorder is a pervasive developmen- of the “wild boy of Aveyron,” a tal disorder defined behaviorally as a syn- violent child with no language drome consisting of abnormal development Rskills who related to other people as if they of social skills (withdrawal, lack of interest in were objects. It was not until 1943 that Kanner peers), limitations in the use of interactive identified a complex set of characteristics language (speech as well as nonverbal com- (e.g., aberrations in social development, ver- munication), and sensorimotor deficits (in- bal and nonverbal communication, symbolic consistent responses to environmental stim- thinking) for a syndrome he labeled “autism.” uli).1,2 In this article, the more generic terms Although Kanner theorized that a single, autism and autistic refer to the broad spectrum biologically based defect was responsible for of pervasive developmental disorders that the development of autistic disorders, treat- exhibit autistic features as their primary pre- ment in the 1950s and 1960s was dominated senting behaviors. The term autistic disorder is by the psychodynamic theory of the etiology of used to describe the specific developmental autism that charged that pathologic parenting disorder that occurs at the more severely was responsible for the withdrawal of children affected end of this spectrum (Table 1).1 from their environment. Following the 1970s The development of impairments in autis- discovery of neuroreceptors, endogenous neu- tic persons is varied (Table 21) and character- rohormones, and the stereospecific binding istically uneven, resulting in good skills in sites of neuropeptides to neurons, clinicians some areas and poor skills in others. Echolalia, have discounted the psychodynamic theory of the involuntary repetition of a word or a sen- autism and repostulated Kanner’s original tence just spoken by another person, is a com- supposition that biologically based deficits are mon feature of language impairment that, responsible for the etiology of autism. when present, may cause language skills to appear better than they really are. There may See editorial on page 1610. also be deficiencies in symbolic thinking, stereotypic behaviors (e.g., repetitive nonpro- NOVEMBER 1, 2002 / VOLUME 66, NUMBER 9 www.aafp.org/afp AMERICAN FAMILY PHYSICIAN 1667 Early detection and intervention in autistic disorders signifi- TABLE 2 cantly improve outcomes, with about one third of patients Impairments Common to Autistic Syndromes achieving some degree of independent living as adults. Impairments in social skills Limitations in the use of interactive language TABLE 1 Sensorimotor deficiencies DSM-IV Diagnostic Criteria for Autistic Disorder Echolalia Deficiencies in symbolic thinking Stereotypic behaviors Self-injury behaviors Mental retardation The rightsholder did not Seizure disorders grant rights to reproduce this item in electronic Information from the American Psychiatric Associa- media. For the missing tion. Diagnostic and statistical manual of mental dis- orders. 4th ed. Washington, D.C.: American Psychi- item, see the original print atric Association, 1994:65-78. Copyright 1994. version of this publication. ductive movements of hands and fingers, rocking, meaningless vocalizations), self-stim- ulation, self-injury behaviors, and seizures. Mental retardation is not a diagnostic crite- rion, but it is frequently present in the moder- ate to severe range. Epidemiology In general, pervasive developmental disor- ders are estimated to occur at a rate of 63 per 10,000 persons.3 While the reported inci- dence of autistic disorder ranges from about five per 10,0004 to 20 per 10,000 persons,5 a recent meta-analysis reports the median rate for 11 surveys conducted since 1989 to be seven per 10,000 persons.6 Male-to-female ratios vary with IQ scores from 2:1 in severely handicapped persons to 4:1 in moderately handicapped persons.7 [Evidence level B, non- randomized studies] The occurrence rate in siblings is suspected to be from 3 to 7 percent, representing a 50- to 100-fold increase in risk.8 Etiology No single cause has been identified for the development of autism. Genetic origins are suggested by studies of twins and a higher 1668 AMERICAN FAMILY PHYSICIAN www.aafp.org/afp VOLUME 66, NUMBER 9 / NOVEMBER 1, 2002 Autism incidence of recurrence among siblings.9 In routine part of the well-child examination can addition, an increased frequency of occur- enhance recognition of developmental disor- rence is noted in patients with genetic condi- ders. While the Denver screening tools19 have tions such as fragile X syndrome and tuberous historically been used in primary care settings sclerosis.10 Some reports have suggested a pos- for routine developmental surveillance, they sible association with Down syndrome.11 lack the sensitivity and specificity necessary for In addition to the implication of neuro- use as screening tools for developmental disor- transmitters, such as serotonin, in the devel- ders.20 More specific and sensitive screening opment and expression of autism,12 many surveillance tools, such as the Parents’ Evalua- other disorders may result in brain dysfunc- tion of Developmental Status (PEDS),21 are tion. Possible contributing factors in the available for assessing these conditions. development of autism include infections, Screening tools that are specific for autism errors in metabolism, immunology, lead poi- include the Checklist for Autism in Toddlers soning, and fetal alcohol syndrome.13 Concerns have been raised in recent years that immunizations, particularly measles, TABLE 3 mumps, and rubella (MMR) vaccine, may Resources for Management of Autism precipitate autism. In addition to reports from several parents who first detected autism in their children following an MMR Centers for Disease Control and Prevention National Immunization Program vaccination at 12 to 15 months of age, an Web address: www.cdc.gov/nip anecdotal study14 reported similar suspicions National Institutes of Health, National Institute of on the part of physicians who provided care Child Health and Human Development for 12 autistic patients. Subsequent studies in Web address: www.nichd.nih.gov 15,16 the United Kingdom [reference 16, Evi- Parents’ Evaluation of Developmental Status (PEDS), dence level B: epidemiologic study] and the Ellsworth & Vandermeer Press United States17 [Evidence level B: epidemio- Telephone: 615-226-4460 logic study] have failed to show an association Web address: www.pedstest.com/test/peds_ between any vaccine and the development of manual.html autism. Information about ongoing studies Checklist for Autism in Toddlers (CHAT) being conducted by the Centers for Disease Web address: www.nas.org.uk/profess/chat.html Control and Prevention and the National Pervasive Developmental Disorders Screening Institutes of Health (NIH) is available at their Test-Stage I (PDDST), Porter Psychiatric Institute Web sites (Table 3). Telephone: 415-476-7385 Association of University Centers on Disabilities, Recognition and Screening a listing of professionals by state Telephone: 301-588-8252 Indications for formal developmental eval- Web address: www.aucd.org uation include no babbling, pointing, or other The National Institute of Child Health and Human gestures by 12 months of age, no single words Development, a listing of research centers by 16 months of age, no two-word sponta- investigating treatment strategies for autism neous phrases by 24 months of age, and loss of Web address: www.nichd.nih.gov previously learned language or social skills at Autism Society of America any age.18 Parental concerns about delayed Telephone: 800-3AUTISM (800-328-8476)
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