The broader autism phenotype in infancy: when does it emerge?

J Am Acad Child Adolesc Psychiatry. 2014 Apr;53(4):398-407.e2. doi: 10.1016/j.jaac.2013.12.020. Epub 2014 Jan 21.


Objective: This study had 3 goals, which were to examine the following: the frequency of atypical development, consistent with the broader autism phenotype, in high-risk infant siblings of children with autism spectrum disorder (ASD); the age at which atypical development is first evident; and which developmental domains are affected.

Method: A prospective longitudinal design was used to compare 294 high-risk infants and 116 low-risk infants. Participants were tested at 6, 12, 18, 24, and 36 months of age. At the final visit, outcome was classified as ASD, Typical Development (TD), or Non-TD (defined as elevated Autism Diagnostic Observation Schedule [ADOS] score, low Mullen Scale scores, or both).

Results: Of the high-risk group, 28% were classified as Non-TD at 36 months of age. Growth curve models demonstrated that the Non-TD group could not be distinguished from the other groups at 6 months of age, but differed significantly from the Low-Risk TD group by 12 months on multiple measures. The Non-TD group demonstrated atypical development in cognitive, motor, language, and social domains, with differences particularly prominent in the social-communication domain.

Conclusions: These results demonstrate that features of atypical development, consistent with the broader autism phenotype, are detectable by the first birthday and affect development in multiple domains. This highlights the necessity for close developmental surveillance of infant siblings of children with ASD, along with implementation of appropriate interventions as needed.

Keywords: autism spectrum disorder; broader autism phenotype; infancy; siblings; social-communication.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Age Factors
  • Child Development Disorders, Pervasive / diagnosis*
  • Child Development Disorders, Pervasive / genetics*
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Male
  • Phenotype*
  • Siblings*