Developmental pathways to autism: a review of prospective studies of infants at risk

Neurosci Biobehav Rev. 2014 Feb;39(100):1-33. doi: 10.1016/j.neubiorev.2013.12.001. Epub 2013 Dec 18.


Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interaction and communication, and the presence of restrictive and repetitive behaviors. Symptoms of ASD likely emerge from a complex interaction between pre-existing neurodevelopmental vulnerabilities and the child's environment, modified by compensatory skills and protective factors. Prospective studies of infants at high familial risk for ASD (who have an older sibling with a diagnosis) are beginning to characterize these developmental pathways to the emergence of clinical symptoms. Here, we review the range of behavioral and neurocognitive markers for later ASD that have been identified in high-risk infants in the first years of life. We discuss theoretical implications of emerging patterns, and identify key directions for future work, including potential resolutions to several methodological challenges for the field. Mapping how ASD unfolds from birth is critical to our understanding of the developmental mechanisms underlying this disorder. A more nuanced understanding of developmental pathways to ASD will help us not only to identify children who need early intervention, but also to improve the range of interventions available to them.

Keywords: ASD; Autism; Causal path; Developmental mechanisms; High-risk; Infant sibling.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autistic Disorder / diagnosis*
  • Autistic Disorder / psychology
  • Brain / pathology
  • Brain / physiopathology
  • Child Development*
  • Family Health
  • Humans
  • Infant
  • Prospective Studies
  • Risk Factors