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Autism spectrum disorder: Surveillance and screening in primary care

Carolyn Bridgemohan, MD
Section Editor
Marilyn Augustyn, MD
Deputy Editor
Mary M Torchia, MD


Autism spectrum disorder (ASD) is a biologically based neurodevelopmental disorder characterized by impairments in two major domains: 1) deficits in social communication and social interaction and 2) restricted repetitive patterns of behavior, interests, and activities [1]. ASD encompasses disorders previously known as autistic disorder (classic autism, sometimes called early infantile autism, childhood autism, or Kanner's autism), childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified, and Asperger disorder (also known as Asperger syndrome). (See "Autism spectrum disorder: Diagnosis", section on 'Diagnostic criteria' and "Asperger syndrome (a specific autism spectrum disorder): Clinical features and diagnosis in children and adolescents" and "Asperger syndrome (a specific autism spectrum disorder): Management and prognosis in children and adolescents".)

The rationale for ASD surveillance and screening in primary care will be reviewed here. General developmental screening, ASD-specific screening tests, and clinical features, diagnosis, and management of ASD are discussed separately. (See "Developmental-behavioral surveillance and screening in primary care" and "Autism spectrum disorder: Screening tools" and "Autism spectrum disorder: Clinical features" and "Autism spectrum disorder: Diagnosis" and "Autism spectrum disorder in children and adolescents: Overview of management".)


Autism spectrum disorder — The term "autism spectrum disorder" (ASD) describes a heterogeneous group of neurodevelopmental disorders that have diverse etiologies but are characterized by constellations of symptoms involving impairments in reciprocal social interaction, social communication, and behavior (specifically, restricted, repetitive patterns of behavior, interests, and activities) [1-3].

The terminology and diagnostic criteria for autism spectrum disorder varies geographically.

The Diagnostic and Statistical Manual of Mental Disorders (DSM) is used predominantly in the United States, and was updated in 2013 (DSM-5) [1]. The DSM-5 diagnosis of ASD encompasses disorders characterized by earlier editions as early infantile autism, childhood autism, Kanner’s autism, high-functioning autism, atypical autism, pervasive developmental disorder-not otherwise specified, childhood disintegrative disorder, and Asperger disorder [1]. Rett syndrome, which had been considered a “pervasive developmental disorder” by the Diagnostic and Statistical Manual, Fourth Edition, Text Revision (DSM-IV-TR) is now considered a separate genetic disorder. (See "Rett syndrome".)


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  1. American Psychiatric Association. Autism spectrum disorder. In: Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, American Psychiatric Association, Arlington, VA 2013. p.50.
  2. Johnson CP, Myers SM, American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007; 120:1183.
  3. World Health Organization. The ICD-10 Classification of Mental and Behavioural Disorders. Clinical descriptions and diagnostic guidelines. www.who.int/classifications/icd/en/bluebook.pdf (Accessed on June 04, 2013).
  4. World Health Organization. The International Classification of Diseases 11th Revision is due by 2017. www.who.int/classifications/icd/revision/en/ (Accessed on January 13, 2015).
  5. Dworkin PH. Detection of behavioral, developmental, and psychosocial problems in pediatric primary care practice. Curr Opin Pediatr 1993; 5:531.
  6. Dworkin PH. British and American recommendations for developmental monitoring: the role of surveillance. Pediatrics 1989; 84:1000.
  7. Howlin P, Moorf A. Diagnosis in autism: A survey of over 1200 patients in the UK. Autism 1997; 1:135.
  8. Howlin P, Asgharian A. The diagnosis of autism and Asperger syndrome: findings from a survey of 770 families. Dev Med Child Neurol 1999; 41:834.
  9. Zwaigenbaum L, Bryson S, Lord C, et al. Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants. Pediatrics 2009; 123:1383.
  10. Ozonoff S, Young GS, Steinfeld MB, et al. How early do parent concerns predict later autism diagnosis? J Dev Behav Pediatr 2009; 30:367.
  11. Sacrey LA, Zwaigenbaum L, Bryson S, et al. Can parents' concerns predict autism spectrum disorder? A prospective study of high-risk siblings from 6 to 36 months of age. J Am Acad Child Adolesc Psychiatry 2015; 54:470.
  12. Glascoe FP. Early detection of developmental and behavioral problems. Pediatr Rev 2000; 21:272.
  13. Glascoe FP. Can clinical judgment detect children with speech-language problems? Pediatrics 1991; 87:317.
  14. Glascoe FP, Dworkin PH. The role of parents in the detection of developmental and behavioral problems. Pediatrics 1995; 95:829.
  15. Filipek PA, Accardo PJ, Ashwal S, et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 2000; 55:468.
  16. Myers SM, Johnson CP, American Academy of Pediatrics Council on Children With Disabilities. Management of children with autism spectrum disorders. Pediatrics 2007; 120:1162.
  17. De Giacomo A, Fombonne E. Parental recognition of developmental abnormalities in autism. Eur Child Adolesc Psychiatry 1998; 7:131.
  18. Wiggins LD, Baio J, Rice C. Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample. J Dev Behav Pediatr 2006; 27:S79.
  19. Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators, Centers for Disease Control and Prevention (CDC). Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 2014; 63:1.
  20. Mandell DS, Novak MM, Zubritsky CD. Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics 2005; 116:1480.
  21. Lord C, Risi S, DiLavore PS, et al. Autism from 2 to 9 years of age. Arch Gen Psychiatry 2006; 63:694.
  22. Palomo R, Belinchón M, Ozonoff S. Autism and family home movies: a comprehensive review. J Dev Behav Pediatr 2006; 27:S59.
  23. Ozonoff S, Iosif AM, Baguio F, et al. A prospective study of the emergence of early behavioral signs of autism. J Am Acad Child Adolesc Psychiatry 2010; 49:256.
  24. Thorsen KL, Goldberg WA, Osann K, Spence MA. Birthday and non-birthday videotapes: the importance of context for the behavior of young children with autism. J Autism Dev Disord 2008; 38:1047.
  25. Zwaigenbaum L, Bryson S, Rogers T, et al. Behavioral manifestations of autism in the first year of life. Int J Dev Neurosci 2005; 23:143.
  26. Bolton PF, Golding J, Emond A, Steer CD. Autism spectrum disorder and autistic traits in the Avon Longitudinal Study of Parents and Children: precursors and early signs. J Am Acad Child Adolesc Psychiatry 2012; 51:249.
  27. Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature 2013; 504:427.
  28. Autism Speaks. Study: Eye contact declines early in babies who later develop autism. http://www.autismspeaks.org/science/science-news/study-eye-contact-declines-early-babies-who-later-develop-autism (Accessed on December 13, 2013).
  29. Charman T, Swettenham J, Baron-Cohen S, et al. Infants with autism: an investigation of empathy, pretend play, joint attention, and imitation. Dev Psychol 1997; 33:781.
  30. Baird G, Charman T, Baron-Cohen S, et al. A screening instrument for autism at 18 months of age: a 6-year follow-up study. J Am Acad Child Adolesc Psychiatry 2000; 39:694.
  31. Lord C. Follow-up of two-year-olds referred for possible autism. J Child Psychol Psychiatry 1995; 36:1365.
  32. Stone WL, Lee EB, Ashford L, et al. Can autism be diagnosed accurately in children under 3 years? J Child Psychol Psychiatry 1999; 40:219.
  33. Johnson CP. Recognition of autism before age 2 years. Pediatr Rev 2008; 29:86.
  34. Dawson G, Munson J, Estes A, et al. Neurocognitive function and joint attention ability in young children with autism spectrum disorder versus developmental delay. Child Dev 2002; 73:345.
  35. Landa R, Garrett-Mayer E. Development in infants with autism spectrum disorders: a prospective study. J Child Psychol Psychiatry 2006; 47:629.
  36. Nadig AS, Ozonoff S, Young GS, et al. A prospective study of response to name in infants at risk for autism. Arch Pediatr Adolesc Med 2007; 161:378.
  37. Landa RJ, Gross AL, Stuart EA, Faherty A. Developmental trajectories in children with and without autism spectrum disorders: the first 3 years. Child Dev 2013; 84:429.
  38. Chawarska K, Shic F, Macari S, et al. 18-month predictors of later outcomes in younger siblings of children with autism spectrum disorder: a baby siblings research consortium study. J Am Acad Child Adolesc Psychiatry 2014; 53:1317.
  39. Filipek PA, Accardo PJ, Baranek GT, et al. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord 1999; 29:439.
  40. Baird G, Charman T, Cox A, et al. Current topic: Screening and surveillance for autism and pervasive developmental disorders. Arch Dis Child 2001; 84:468.
  41. Gray DE. Accommodation, resistance and transcendence: three narratives of autism. Soc Sci Med 2001; 53:1247.
  42. Pinto-Martin J, Levy SE. Early Diagnosis of Autism Spectrum Disorders. Curr Treat Options Neurol 2004; 6:391.
  43. Manning SE, Davin CA, Barfield WD, et al. Early diagnoses of autism spectrum disorders in Massachusetts birth cohorts, 2001-2005. Pediatrics 2011; 127:1043.
  44. Orinstein AJ, Helt M, Troyb E, et al. Intervention for optimal outcome in children and adolescents with a history of autism. J Dev Behav Pediatr 2014; 35:247.
  45. Simonoff E. Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord 1998; 28:447.
  46. Maglione MA, Gans D, Das L, et al. Nonmedical interventions for children with ASD: recommended guidelines and further research needs. Pediatrics 2012; 130 Suppl 2:S169.
  47. Committee on Children With Disabilities. Role of the pediatrician in family-centered early intervention services. Pediatrics 2001; 107:1155.
  48. Council on Children With Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee, Medical Home Initiatives for Children With Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics 2006; 118:405.
  49. Williams J, Brayne C. Screening for autism spectrum disorders: what is the evidence? Autism 2006; 10:11.
  50. The UK NSC policy on autism screening in children. http://www.screening.nhs.uk/autism (Accessed on June 18, 2013).
  51. Scottish Intercollegiate Guideline Network. Assessment, diagnosis and clinical interventions for children and young people with autism spectrum disorders, a national clinical guideline, number 98. July 2007. www.sign.ac.uk/pdf/sign98.pdf (Accessed on February 08, 2011).
  52. Al-Qabandi M, Gorter JW, Rosenbaum P. Early autism detection: are we ready for routine screening? Pediatrics 2011; 128:e211.
  53. Pinto-Martin JA, Young LM, Mandell DS, et al. Screening strategies for autism spectrum disorders in pediatric primary care. J Dev Behav Pediatr 2008; 29:345.
  54. Pierce K, Carter C, Weinfeld M, et al. Detecting, studying, and treating autism early: the one-year well-baby check-up approach. J Pediatr 2011; 159:458.
  55. Gabrielsen TP, Farley M, Speer L, et al. Identifying autism in a brief observation. Pediatrics 2015; 135:e330.
  56. Robins DL, Casagrande K, Barton M, et al. Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics 2014; 133:37.
  57. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113:e472.
  58. Schaefer GB, Mendelsohn NJ, Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 2013; 15:399.
  59. Bailey A, Palferman S, Heavey L, Le Couteur A. Autism: the phenotype in relatives. J Autism Dev Disord 1998; 28:369.
  60. Stone WL, McMahon CR, Yoder PJ, Walden TA. Early social-communicative and cognitive development of younger siblings of children with autism spectrum disorders. Arch Pediatr Adolesc Med 2007; 161:384.
  61. Georgiades S, Szatmari P, Zwaigenbaum L, et al. A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorder. JAMA Psychiatry 2013; 70:42.
  62. Messinger D, Young GS, Ozonoff S, et al. Beyond autism: a baby siblings research consortium study of high-risk children at three years of age. J Am Acad Child Adolesc Psychiatry 2013; 52:300.
  63. Shannon M, Graef JW. Lead intoxication in children with pervasive developmental disorders. J Toxicol Clin Toxicol 1996; 34:177.
  64. Rapin I. Autism. N Engl J Med 1997; 337:97.
  65. Valicenti-McDermott M, McVicar K, Rapin I, et al. Frequency of gastrointestinal symptoms in children with autistic spectrum disorders and association with family history of autoimmune disease. J Dev Behav Pediatr 2006; 27:S128.