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Diagnosis of autism spectrum disorders in the first 3 years of life

Nature Clinical Practice Neurology volume 4, pages 138–147 (2008)Cite this article

Abstract

Autism spectrum disorders (ASDs) are a class of neurodevelopmental disorders defined by qualitative impairments in social functioning and communication, often accompanied by repetitive and stereotyped patterns of behavior and interests. The term 'ASD' encompasses autism, pervasive developmental disorder not otherwise specified, and Asperger's syndrome. ASDs show etiologic heterogeneity, and there is no definitive medical test or cure for these conditions. Around 1 in 150 children have an ASD, with males being affected three to four times more frequently than females. The age at diagnosis of ASD ranges from 3 to 6 years, but there is increasing evidence that diagnosis in the second year of life is possible in some children. Early diagnosis will lead to earlier behavior-based intervention, which is associated with improvements in core areas, such as social functioning and communication. Early detection of—and intervention to treat—ASD is crucial because it is likely to lead to an improved outcome.

Key Points

  • Early signs of autism spectrum disorders (ASDs) include infrequent social orienting, infrequent initiation of social engagement, poorly sustained and coordinated engagement with others, a limited variety of gestures and other forms of communication, and repetitive motor behaviors

  • Development of siblings of children with ASDs and other groups at high risk of ASDs should be followed closely from 6 months of age onwards

  • Diagnosis of ASDs becomes possible at 14 months of age, but the diagnosis might be unstable in up to a third of children diagnosed before 30 months of age

  • Young children with ASDs show improved social, communication, language, play and cognitive functioning when they are enrolled in a developmentally appropriate intensive intervention

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References

  1. American Psychiatric Association (2000) Diagnostic and Statistical Manual of Mental Disorders, edn 4, text revision. Washington, DC: American Psychiatric Press

  2. Rice C (2007) Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Morb Mortal Wkly Rep 56: 12–28

    Google Scholar 

  3. Martin KC and Kandel ER (1996) Cell adhesion molecules, CREB, and the formation of new synaptic connections. Neuron 17: 567–570

    Article  CAS  PubMed  Google Scholar 

  4. Harris SL and Handleman JS (2000) Age and IQ at intake as predictors of placement for young children with autism: a four- to six-year follow-up. J Autism Dev Disord 30: 137–142

    Article  CAS  PubMed  Google Scholar 

  5. McGee GG et al. (1999) An incidental teaching approach to early intervention for toddlers with autism. J Assoc Pers Sev Handicaps 24: 133–146

    Article  Google Scholar 

  6. Rogers SJ (1996) Brief report: early intervention in autism. J Autism Dev Disord 26: 243–246

    Article  CAS  PubMed  Google Scholar 

  7. Mandell DS et al. (2005) Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics 116: 1480–1486

    Article  PubMed  Google Scholar 

  8. Howlin P and Asgharian A (1999) The diagnosis of autism and Asperger syndrome: findings from a survey of 770 families. Dev Med Child Neurol 41: 834–839

    Article  CAS  PubMed  Google Scholar 

  9. De Giacomo A and Fombonne E (1998) Parental recognition of developmental abnormalities in autism. Eur Child Adolesc Psychiatry 7: 131–136

    Article  CAS  PubMed  Google Scholar 

  10. Charman T et al. (2000) Testing joint attention, imitation, and play as infancy precursors to language and theory of mind. Cogn Dev 15: 481–498

    Article  Google Scholar 

  11. Chawarska K et al. (2007) Autism spectrum disorder in the second year of life: stability and change in syndrome expression. J Child Psychol Psychiatry 48: 128–138

    Article  PubMed  Google Scholar 

  12. Wiggins LD et al. (2006) Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample. J Dev Behav Pediatr 27 (Suppl): S79–S87

    Article  PubMed  Google Scholar 

  13. Palomo R et al. (2006) Autism and family home movies: a comprehensive review. J Dev Behav Pediatr 2 (Suppl): S59–S68

    Article  Google Scholar 

  14. Adrien JL et al. (1993) Blind ratings of early symptoms of autism based upon family home movies. J Am Acad Child Adolesc Psychiatry 32: 617–626

    Article  CAS  PubMed  Google Scholar 

  15. Maestro S et al. (2005) The course of autism signs in the first year of life. Psychopathology 1: 26–31

    Article  Google Scholar 

  16. Baranek GT (1999) Autism during infancy: a retrospective video analysis of sensory–motor and social behaviors at 9–12 months of age. J Autism Dev Disord 29: 213–224

    Article  CAS  PubMed  Google Scholar 

  17. Osterling J et al. (2002) Early recognition of 1-year-old infants with autism spectrum disorders versus mental retardation. Dev Psychopathol 14: 239–251

    Article  PubMed  Google Scholar 

  18. Osterling J and Dawson G (1994) Early recognition of children with autism: a study of first birthday home videotapes. J Autism Dev Disord 24: 247–257

    Article  CAS  PubMed  Google Scholar 

  19. Werner E and Dawson G (2005) Validation of the phenomenon of autistic regression using home videotapes. Arch Gen Psychiatry 62: 889–895

    Article  CAS  PubMed  Google Scholar 

  20. Colgan SE et al. (2006) Analysis of social interaction gestures in infants with autism. Child Neuropsychol 12: 307–319

    Article  PubMed  Google Scholar 

  21. Folstein S and Rutter M (1977) Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 18: 297–321

    Article  CAS  PubMed  Google Scholar 

  22. Landa R et al. (1992) Social language use in parents of autistic individuals. Psychol Med 22: 245–254

    Article  CAS  PubMed  Google Scholar 

  23. Piven J (1997) The biological basis of autism. Curr Opin Neurobiol 7: 708–712

    Article  CAS  PubMed  Google Scholar 

  24. Flanagan JE and Landa R (2007) Longitudinal study of motor development in infants at high and low risk for autism. Presented at the American Occupational Therapy Association Annual Conference: 2007 April 20–23, St Louis, MO, USA

    Google Scholar 

  25. Landa R and Garrett-Mayer E (2006) Development in infants with autism spectrum disorders: a prospective study. J Child Psychol Psychiatry 47: 629–638

    Article  PubMed  Google Scholar 

  26. Bryson SE et al. (2007) A prospective case series of high-risk infants who developed autism. J Autism Dev Disord 37: 12–24

    Article  PubMed  Google Scholar 

  27. Bhat AN et al. (2007) Learning, visual attention, affect, and coordination in young infants at risk for autism and typically developing. Presented at the Society for Research in Child Development Biennial Meeting: 2007 April 2–4, Boston, MA, USA

    Google Scholar 

  28. Zwaigenbaum L et al. (2005) Behavioral manifestations of autism in the first year of life. Int J Dev Neurosci 23: 143–152

    Article  PubMed  Google Scholar 

  29. Iverson J and Wozniak RH (2007) Variation in vocal-motor development in infant siblings of children with autism. J Autism Dev Disord 37: 158–170

    Article  PubMed  Google Scholar 

  30. Cassel TD et al. (2007) Early social and emotional communication in the infant siblings of children with autism spectrum disorders: an examination of the broad phenotype. J Autism Dev Disord 37: 122–132

    Article  PubMed  Google Scholar 

  31. Yirmiya N et al. (2006) The development of siblings of children with autism at 4 and 14 months: social engagement, communication, and cognition. J Child Psychol Psychiatry 47: 511–523

    Article  PubMed  Google Scholar 

  32. Merin N et al. (2007) Visual fixation patterns during reciprocal social interaction distinguish a subgroup of 6-month-old infants at-risk for autism from comparison infants. J Autism Dev Disord 37: 108–121

    Article  PubMed  Google Scholar 

  33. Mullen EM (1995) Mullen: Scales of Early Learning (AGS edition). Circle Pines: American Guidance Service

    Google Scholar 

  34. Richler J et al. (2007) Restricted and repetitive behaviors in young children with autism spectrum disorders. J Autism Dev Disord 37: 73–85

    Article  PubMed  Google Scholar 

  35. Landa RJ et al. (2007) Early social and communication development associated with early and later onset of autism. Arch Gen Psychiatry 64: 853–864

    Article  PubMed  Google Scholar 

  36. Landa RJ et al. (2005) Change in autism diagnostic classification and symptoms from 14 to 24 months of age. Presented at the Society for Research in Child Development Biennial Meeting: 2005 April 7–10, Atlanta, USA

    Google Scholar 

  37. Turner LM and Stone WL (2007) Variability in outcome for children with an ASD diagnosis at age 2. J Child Psychol Psychiatry 48: 793–802

    Article  PubMed  Google Scholar 

  38. Sutera S et al. (2007) Predictors of optimal outcome in toddlers diagnosed with autism spectrum disorders. J Autism Dev Disord 37: 98–107

    Article  PubMed  Google Scholar 

  39. Cox A et al. (1999) Autism spectrum disorders at 20 and 42 months of age: stability of clinical and ADI-R diagnosis. J Child Psychol Psychiatry 40: 719–732

    Article  CAS  PubMed  Google Scholar 

  40. Receveur C et al. (2005) Interaction and imitation deficits from infancy to 4 years of age in children with autism: a pilot study based on videotapes. Autism 9: 69–82

    Article  PubMed  Google Scholar 

  41. Werner E et al. (2005) Variation in early developmental course in autism and its relation with behavioral outcome at 3–4 years of age. J Autism Dev Disord 35: 37–50

    Article  Google Scholar 

  42. Luyster R et al. (2005) Early regression in social communication in autism spectrum disorders: a CPEA study. Dev Neuropsychol 27: 311–336

    Article  PubMed  Google Scholar 

  43. Goldberg WA et al. (2003) Language and other regression: assessment and timing. J Autism Dev Disord 33: 607–616

    Article  PubMed  Google Scholar 

  44. Jones M and Szatmari P (2002) A risk-factor model of epistatic interaction, focusing on autism. Am J Med Genet 114: 558–565

    Article  PubMed  Google Scholar 

  45. Newschaffer CJ et al. (2007) The epidemiology of autism spectrum disorders. Annu Rev Public Health 28: 235–258

    Article  PubMed  Google Scholar 

  46. Courchesne E et al. (2001) Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology 57: 245–254

    Article  CAS  PubMed  Google Scholar 

  47. Stevenson RE et al. (1997) Autism and macrocephaly. Lancet 349: 1744–1745

    Article  CAS  PubMed  Google Scholar 

  48. Courchesne E and Pierce K (2005) Brain overgrowth in autism during a critical time in development: implications for frontal pyramidal neuron and interneuron development and connectivity. Int J Dev Neurosci 23: 153–170

    Article  PubMed  Google Scholar 

  49. Hazlett HC et al. (2005) Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years. Arch Gen Psychiatry 62: 1366–1376

    Article  PubMed  Google Scholar 

  50. Herbert MR et al. (2005) Brain asymmetries in autism and developmental language disorder: a nested whole-brain analysis. Brain 128: 213–226

    Article  CAS  PubMed  Google Scholar 

  51. Pardo CA et al. (2005) Immunity, neuroglia and neuroinflammation in autism. Int Rev Psychiatry 17: 485–495

    Article  PubMed  Google Scholar 

  52. Zimmerman AW et al. (2005) Cerebrospinal fluid and serum markers of inflammation in autism. Pediatr Neurol 33: 195–201

    Article  PubMed  Google Scholar 

  53. Fields RD and Stevens-Graham B (2002) New insights into neuron–glia communication. Science 298: 556–562

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. DiCicco-Bloom E et al. (2006) The developmental neurobiology of autism spectrum disorder. J Neurosci 28: 6897–6906

    Article  CAS  Google Scholar 

  55. Filipek PA et al. (2000) 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 55: 468–479

    Article  CAS  PubMed  Google Scholar 

  56. 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 (2006) Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics 118: 405–420

  57. Johnson CP et al. (2007) Identification and evaluation of children with autism spectrum disorders. Pediatrics 120: 1183–1215

    Article  PubMed  Google Scholar 

  58. Dietz C et al. (2006) Screening for autistic spectrum disorder in children aged 14–15 months. II: population screening with the Early Screening of Autistic Traits Questionnaire (ESAT). Design and general findings. J Autism Dev Disord 36: 713–722

    Article  PubMed  Google Scholar 

  59. Reznick JS et al. (2006) A parent-report instrument for identifying one-year-olds at risk for an eventual diagnosis of autism: the first year inventory. J Autism Dev Disord 37: 1691–1710

    Article  PubMed  Google Scholar 

  60. Kleinman JM et al. (2007) The Modified Checklist for Autism in Toddlers: a follow-up investigating the early detection of autism spectrum disorders. J Autism Dev Disord [10.1007/s10803-007-0450-9]

  61. Baron-Cohen S et al. (1996) Psychological markers in the detection of autism in infancy in a large population. Br J Psychiatry 168: 158–163

    Article  CAS  PubMed  Google Scholar 

  62. Robins DL et al. (2001) The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. J Autism Dev Disord 31: 131–144

    Article  CAS  PubMed  Google Scholar 

  63. Eaves et al. (2006) Screening for autism: agreement with diagnosis. Autism 10: 229–242

    Article  PubMed  Google Scholar 

  64. Stone WL et al. (1997) Motor imitation in young children with autism: what's the object? J Abnorm Child Psychol 25: 475–485

    Article  CAS  PubMed  Google Scholar 

  65. Siegel B (2004) Pervasive Developmental Disorders Screening Test-II (PDDST-II). San Antonio: Harcourt

    Google Scholar 

  66. Wetherby AM et al. (2007) Social communication profiles of children with autism spectrum disorders late in the second year of life. J Autism Dev Disord 37: 960–975

    Article  PubMed  Google Scholar 

  67. Hess CR et al. (2007) Parent reported concern compared to standardized test results in young sibs of children with autism. Presented at the International Meeting for Autism Research: 2007 May 3–5, Seattle, WA, USA

    Google Scholar 

  68. Charman T et al. (2005) Outcome at 7 years of children diagnosed with autism at age 2: Predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time. J Child Psychol Psychiatry 46: 500–513

    Article  PubMed  Google Scholar 

  69. Lord C (1995) Follow-up of two-year-olds referred for possible autism. J Child Psychol Psychiatry 36: 1365–1382

    Article  CAS  PubMed  Google Scholar 

  70. Lord C et al. (2006) Autism from 2 to 9 years of age. Arch Gen Psychiatry 63: 694–701

    Article  PubMed  Google Scholar 

  71. Moore V and Goodson S (2003) How well does early diagnosis of autism stand the test of time? Follow-up study of children assessed for autism at age 2 and development of an early diagnostic service. Autism 7: 47–63

    PubMed  Google Scholar 

  72. Stone WL et al. (1999) Can autism be diagnosed accurately in children under 3 years? J Child Psychol Psychiatry 40: 219–226

    Article  CAS  PubMed  Google Scholar 

  73. Turner LM et al. (2006) Follow-up of children with autism spectrum disorders from age 2 to age 9. Autism 10: 243–265

    Article  PubMed  Google Scholar 

  74. Charman T and Baird G (2002) Practitioner review: diagnosis of autism spectrum disorder in 2- and 3-year-old children. J Child Psychol Psychiatry 43: 289–305

    Article  PubMed  Google Scholar 

  75. Sallows GO and Graupner TD (2005) Intensive behavioral treatment for children with autism: four-year outcome and predictors. Am J Ment Retard 110: 417–438

    Article  PubMed  Google Scholar 

  76. Rogers SJ (1998) Empirically supported comprehensive treatments for young children with autism. J Clin Child Psychol 27: 168–179

    Article  CAS  PubMed  Google Scholar 

  77. Rogers SJ et al. (1986) An approach for enhancing the symbolic, communicative, and interpersonal functioning of young children with autism and severe emotional disorders. J Div Early Childhood 10: 135–148

    Article  Google Scholar 

  78. Koegel RL and Koegel LK (2006) Pivotal Response Treaments for Autism: Communication, Social, and Academic Development. Baltimore: Brookes

    Google Scholar 

  79. Ingersoll B and Schreibman L (2006) Teaching reciprocal imitation skills to young children with autism using a naturalistic behavioral approach: effects on language, pretend play, and joint attention. J Autism Dev Disord 36: 487–505

    Article  PubMed  Google Scholar 

  80. Whalen C and Schreibman L (2003) Joint attention training for children with autism using behavior modification procedures. J Child Psychol Psychiatry 44: 456–468

    Article  PubMed  Google Scholar 

  81. Greenspan SI and Wieder S (2006) Engaging Autism: Using the Floortime Approach to Help Children Relate, Communicate, and Think. Cambridge: Da Capo Press

    Google Scholar 

  82. Prizant et al. (2006) SCERTS Model: a Comprehensive Approach for Children with Autism Spectrum Disorders. Baltimore: Brookes

    Google Scholar 

  83. Beglinger L and Smith T (2005) Concurrent validity of social subtype and IQ after early intensive behavioral intervention in children with autism: a preliminary investigation. J Autism Dev Disord 35: 295–303

    Article  PubMed  Google Scholar 

  84. Sherer MR and Schreibman L (2005) Individual behavioral profiles and predictors of treatment effectiveness for children with autism. J Consult Clin Psychol 73: 525–538

    Article  PubMed  Google Scholar 

  85. National Research Council (2001) Educating Children with Autism. Washington, DC: National Academies Press

  86. Stone WL and Yoder PJ (2001) Predicting spoken language level in children with autism spectrum disorders. Autism 5: 341–361

    Article  CAS  PubMed  Google Scholar 

  87. Cohen H et al. (2006) Early intensive behavioral treatment: replication of the UCLA model in a community setting. J Dev Behav Pediatr 27 (Suppl): S145–S155

    Article  PubMed  Google Scholar 

  88. Howard JS et al. (2005) A comparison of intensive behavior analytic and eclectic treatments for young children with autism. Res Dev Disabil 26: 359–383

    Article  PubMed  Google Scholar 

  89. Schertz HH and Odom SL (2007) Promoting joint attention in toddlers with autism: a parent-mediated developmental model. J Autism Dev Disord 37: 1562–1575

    Article  PubMed  Google Scholar 

  90. Sussman F (1999) More than Words: Helping Parents Promote Communication and Social Skills in Children with Autism Spectrum Disorder. Toronto: Hanen Centre

    Google Scholar 

  91. Holman K et al. (2007) Social and communication change in a 6-month toddler intervention program. Presented at the International Meeting for Autism Research: 2007 May 3–5, Seattle, WA, USA

    Google Scholar 

  92. Koegel RL and Koegel LK (1995) Teaching Children with Autism. Baltimore: Brookes

    Google Scholar 

  93. Schertz HH and Odom SL (2006) promoting joint attention in toddlers with autism: a parent-mediated developmental model. J Autism Dev Disord 37: 1562–1575

    Article  PubMed  Google Scholar 

  94. Kasari C et al. (2006) Joint attention and symbolic play in young children with autism: a randomized controlled intervention study. J Child Psychol Psychiatry 47: 611–620

    Article  PubMed  Google Scholar 

  95. Ingersoll B and Schreibman L (2006) Teaching reciprocal imitation skills to young children with autism using a naturalistic behavioral approach: effects on language, pretend play, and joint attention. J Autism Dev Disord 36: 487–505

    Article  PubMed  Google Scholar 

  96. Bibby P et al. (2002) Progress and outcomes for children with autism receiving parent-managed intensive interventions. Res Dev Disabil 23: 81–104

    Article  PubMed  Google Scholar 

  97. Eikeseth S et al. (2002) Intensive behavioral treatment at school for 4- to 7-year old children with autism: a one-year comparison controlled study. Behav Modif 26: 49–68

    Article  PubMed  Google Scholar 

  98. Goldstein H (2002) Communication intervention for children with autism: a review of treatment efficacy. J Autism Dev Disord 32: 373–396

    Article  PubMed  Google Scholar 

  99. Newsom C and Rincover A (1998) Autism. In Treatment of Childhood Disorders, 286–346 (Eds Mash EJ and Barkley RA) New York: Guilford

    Google Scholar 

  100. Weiss MJ (1999) Differential rates of skill acquisition and outcomes of early intensive behavioral intervention for autism. Behav Interv 14: 3–22

    Article  Google Scholar 

  101. Maestro et al. (2002) Attentional skills during the first 6 months of age in Autism Spetrum Disorder. J Am Acad Child Adolesc Psychiatry 41: 1239–1245

    Article  PubMed  Google Scholar 

  102. Nadig AS et al. (2007) A prospective study of response to name in infants at risk for autism. Arch Pediatr Adolesc Med 161: 378–383

    Article  PubMed  Google Scholar 

  103. Swettenham J et al. (1998) The frequency and distribution of spontaneous attention shifts between social and nonsocial stimuli in autistic, typically developing, and nonautistic developmentally delayed infants. J Child Psychol Psychiatry 39: 747–753

    Article  CAS  PubMed  Google Scholar 

  104. Sullivan M et al. (2007) Response to joint attention in toddlers at risk for autism spectrum disorder: a prospective study. J Autism Dev Disord 37: 37–48

    Article  PubMed  Google Scholar 

  105. Charman T et al. (1997) Infants with autism: an investigation of empathy, pretend play, joint attention, and imitation. Dev Psychopathol 33: 781–789

    Article  CAS  Google Scholar 

  106. Wetherby A et al. (2004) Early indicators of autism spectrum disorders in the second year of life. J Autism Dev Disord 34: 473–493

    Article  PubMed  Google Scholar 

  107. Osterling J et al. (2002) Early recognition of 1-year-old infants with autism spectrum disorder versus mental retardation. Dev Psychopathol 14: 239–251

    Article  PubMed  Google Scholar 

  108. Loh A et al. (2007) Stereotyped motor behaviors associated with autism in high-risk infants: a pilot videotape analysis of a sibling sample. J Autism Dev Disord 37: 25–36

    Article  PubMed  Google Scholar 

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Acknowledgements

This work was supported by grants MH59630 and MH066417 from the NIH, Bethesda, MD, USA, which were awarded to the author. Désirée Lie, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the Medscape-accredited continuing medical education activity associated with this article.

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  1. Kennedy Krieger Institute, 3901 Greenspring Avenue, Baltimore, MD 21211, USA landa@kennedykrieger.org

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  1. RJ Landa is Associate Professor of Psychiatry at John Hopkins University, and Director of the Kennedy Krieger Institute's Center for Autism and Related Disorders, Baltimore, MD, USA.,

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Landa, R. Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Rev Neurol 4, 138–147 (2008). https://doi.org/10.1038/ncpneuro0731

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