Opinion statement
Autistic spectrum disorders (ASD) are an often-disabling continuum of disorders affecting two to four in 1000 children. These disorders have a core set of defining features including impaired verbal and nonverbal communication, impaired social interaction, and restricted or repetitive patterns of behavior. The cause of autism is unclear. The disorder can be defined only by related behaviors. Although there has been considerable improvement in standardized screening techniques for ASD in the past 10 years, screening and diagnostic practices in medicine and education lag far behind clinical research. Various studies have found the average age of diagnosis to be between 3 and 6 years, with significant differences as a function of ethnicity and socio-economic status. Preliminary research suggests that in some populations, missed diagnosis and misdiagnosis of ASD are common. This may be caused partly by inadequate screening practices. It also may reflect that presentation of symptoms varies from patient to patient. Lack of resources for appropriate referral, diagnosis, and treatment may play an important role. This article discusses recent progress in ASD screening, what is known of current screening and diagnostic practices, and future directions for research and practice improvement. The best practice model for the screening and early diagnosis of autism spectrum disorders and other developmental disabilities should include routine developmental surveillance as part of wellchild pediatric care. General developmental screening should be followed by autismspecific screening for those children who fail the initial developmental screen, or whose parents report suspect behaviors.
Similar content being viewed by others
References and Recommended Reading
Squires J, Nickel R, Eisert D: Early detection of developmental problems: strategies for monitoring young children in the practice setting. Dev Behav Pediatr 1996, 17:420–427.
Baird G, Charman T, Cox AG, et al.: Screening and surveillance for autism and pervasive developmental disorders. Arch Dis Child 2001, 84:468–475.
Clark A, Harrington R: On diagnosing rare disorders rarely: appropriate use of screening instruments. J Child Psychol Psychiatry 1999, 40:287–290.
Simonoff E: Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord 1998, 28:447–456.
Bolton P, Macdonald H, Pickles A, et al.: A case-control family history study of autism. J Child Psychol Psychiatry 1994, 35:877–900.
Le Couteur A, Bailey A, Goode S, et al.: A broader phenotype of autism: the clinical spectrum in twins. J Child Psychol Psychiatry 1996, 37:785–801.
Matson J, Benavidez DA, Compton LS, et al.: Behavioral treatment of autistic persons: a review of research from 1980 to the present. Res Dev Disabil 1996, 17:433–465.
Campbell M: Treatment of autistic disorder. J Am Acad Child Adolesc Psychiatry 1996, 35:134–143.
Rapin I: Current concepts: autism. N Engl J Med 1997, 337:97–104.
Volkmar F, Cook E, Pomeroy J, et al.: Practice parameters for the assessment and treatment of children, adolescents and adults with autism and other pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry 1999, 38(Suppl):S32-S54. This paper outlined the best practice model for assessment and treatment of patients with ASD/PDD.
Lord C: Follow-up of two-year-olds referred for possible autism. J Child Psychol Psychiatry 1995, 36:1365–1382.
Jacobson J, Mulick J: System and cost research issues in treatments for people with autistic disorders. J Autism Dev Disord 2000, 30:585–593.
Jarbrink K, Knapp M: The economic impact of autism in Britain. Autism 2001, 5:7–22.
Gray D: Accommodation, resistance and transcendence: three narratives of autism. Soc Sci Med 2001, 53:1247–1257.
Bristol-Power MM, Spinella G: Research on screening and diagnosis in autism: a work in progress. J Autism Dev Disord 1999, 29:435–438.
Filipek P, Accardo P, Ashwal S, et al.: Practice parameter: screening and diagnosis of autism. Neurology 2000, 55:468–479. This important paper established the guidelines for developmental and autism-specific screening for clinical practices.
Minkovitz C, Mathew M, Strobino D: Have professional recommendations and consumer demand altered pediatric practice regarding child development? J Urban Health 1998, 75:739–750.
Dobrez D, Sasso AL, Holl J, et al.: Estimating the cost of developmental and behavioral screening of preschool children in general pediatric practice. Pediatrics 2001, 108:913–922.
Glascoe F: Are over-referrals on developmental screening tests really a problem? Arch Pedriatr Adolesc Med 2001, 155:54–59.
Willemsen-Swinkels S, Dietz C, Naber F, et al.: Population based study on early detection of autism at 14 months in the Netherlands. Paper presented at the International Meeting for Autism Research. Orlando, FL 2002.
Klinger L, Renner P: Performance-based measures in autism: implications for diagnosis, early detection, and identification of cognitive profiles. J Clin Child Psychol 2000, 29:479–492.
Baron-Cohen S: Early identification of autism by the Checklist for Autism in Toddlers (CHAT). J Royal Soc Med 2000, 93:521–525. This important, population-based study reports on the use of the CHAT as an autism screening tool in the general population in England.
Vostanis P, Smith B, Chung MC, et al.: Early detection of childhood autism: a review of screening instruments and rating scales. Child Care Health Dev 1994, 20:165–177. This is an excellent review of autism screening instruments.
Baron-Cohen S, Cox A, Baird G, et al.: Psychological markers in the detection of autism in infancy in a large population. Br J Psychiatry 1996, 168:158–163.
Baron-Cohen S, Allen J, Gillberg C: Can autism be detected at 18 months? The needle, the haystack, and the CHAT. Br J Psychiatry 1992, 16:839–843. This paper reports on early screening results using the CHAT and was the first report on the ability to identify autism in young patients using a population-based screening tool.
Scambler D, Rogers S, Wehner E: Can the checklist for autism in toddlers differentiate young children with autism from those with developmental delays? J Am Acad Child Adolesc Psychiatry 2001, 40:1457–1463. This paper examines the ability of the CHAT to differentiate autism from developmental delay.
Charman T, Baron-Cohen S, Baird G, et al.: Commentary: the modified Checklist for Autism in Toddlers. J Autism Dev Disord 2001, 31:145–148.
Robins D: The modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. J Autism Dev Disord 2001, 31:131–144.
Baron-Cohen S, Charman T, Wheelwright S, et al.: Development of a new screening instrument for autism spectrum disorders — the Q-CHAT. Paper presented at the International Meeting for Autism Research. Orlando, FL, 2002.
Wetherby A, Prizant B: Communication and Symbolic Behavior Scales Developmental Profile, Preliminary Normed Edition. Baltimore, MD: Paul H. Brookes Publishing Co.; 2001.
Lord C, Rutter M, Le Couteur A: Autism diagnostic interview revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994, 24:659–685.
Willemsen-Swinkels S, Dietz C, Naber F, et al.: Population based study on early detection of autism at 14 months in the Netherlands. Paper presented at the International Meeting for Autism Research. Orlando, FL, 2002.
Krug D, Arick J, Almond P: Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. J Child Psychol Psychiatry 1980, 21:221–229.
Berument S, Rutter M, Lord C, et al.: Screening Young People for Autism With the Developmental Behavior Checklist. J Am Acad Child Adolesc Psychiatry 2002, 41:1369–1375.
Stone W, Coonrod E, Ousley O: Brief report: Screening Tool for Autism in Two-Year-Olds (STAT): development and preliminary data. J Autism Dev Disord 2000, 30:607–612.
Lord C, Lisi S, Lambrecht L, et al.: The ADOS-G (Autism Diagnostic Observation Schedule-Generic): A standard measure of social-communication deficits associated with autism spectrum disorders. J Autism Dev Disord 2000, 30:205–223.
Schopler E, Reichler R, Renner B: The Childhood Autism Rating Scale (CARS). New York: Irvington; 1989.
Garfin DG, McCallon D, Cox R: Validity and reliability of the Childhood Autism Rating Scale with autistic adolescents. J Autism Dev Disord 1988, 18:367–378.
Howlin P, Moore A: Diagnosis of autism. A survey of over 1200 patients in the UK. Autism 1997, 1:135–162. This important paper reports on a large group of families dealing with ASD and includes items such as average age at diagnosis and age of first concern by parents.
Bailey D, Skinner D, Hatton D: Family experiences and factors associated with the diagnosis of fragile X syndrome. Dev Behav Pediatr 2000, 21:315–321.
Shevell M, Majnemer A, Rosenbaum P, et al.: Profile of referrals for early childhood developmental delay to ambulatory subspecialty clinics. J Child Neurol 2001, 16:645–650.
Horwitz S, Leaf P, Leventhal PJ: Identification of psychosocial problems in pediatric primary care: do family attitudes make a difference. Arch Pediatr Adolesc Med 1998, 152:367–371.
The Provision of Mental Health Services in Managed Care Organizations. 2003, Substance Abuse and Mental Health Services Administration (SAMSHA).
Glascoe F: Parent’s concerns about children’s development: prescreening technique or screening test? Pediatrics 1997, 99:522–528.
Shah K: What do medical students know about autism. Autism 2001, 5:127–133.
Goldstein E, Dworkin P, Bernstein B: Anticipatory guidance during child health supervision visits: how are we doing? Ambul Child Health 1999, 5:113–120.
Glascoe F: Detecting and addressing developmental and behavioral problems in primary care. Pediatr Nurs 2000, 26:251–257.
Squires J: Parent-completed questionnaires: use for child-find and screening. Infants Young Child 1996, 9:16–28.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pinto-Martin, J., Levy, S.E. Early diagnosis of autism spectrum disorders. Curr Treat Options Neurol 6, 391–400 (2004). https://doi.org/10.1007/s11940-996-0030-x
Issue Date:
DOI: https://doi.org/10.1007/s11940-996-0030-x