Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development

Autism. 2019 Feb;23(2):436-448. doi: 10.1177/1362361317753563. Epub 2018 Jan 29.


The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype-a set of sub-clinical characteristics of autism spectrum disorder-on child autism spectrum disorder phenotypes may help reduce heterogeneity in potential genetic predisposition for autism spectrum disorder. We assessed the associations between parental broader autism phenotype and child phenotype among children of age 30-68 months enrolled in the Study to Explore Early Development (N = 707). Child autism spectrum disorder phenotype was defined by a replication of latent classes derived from multiple developmental and behavioral measures: Mild Language Delay with Cognitive Rigidity, Mild Language and Motor Delay with Dysregulation (e.g. anxiety/depression), General Developmental Delay, and Significant Developmental Delay with Repetitive Motor Behaviors. Scores on the Social Responsiveness Scale-Adult measured parent broader autism phenotype. Broader autism phenotype in at least one parent was associated with a child having increased odds of being classified as mild language and motor delay with dysregulation compared to significant developmental delay with repetitive motor behaviors (odds ratio: 2.44; 95% confidence interval: 1.16, 5.09). Children of parents with broader autism phenotype were more likely to have a phenotype qualitatively similar to broader autism phenotype presentation; this may have implications for etiologic research.

Keywords: autism spectrum disorder; broader autism phenotype; endophenotypes; subgrouping.

Publication types

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

MeSH terms

  • Adult
  • Autism Spectrum Disorder / psychology*
  • Child, Preschool
  • Cognition
  • Developmental Disabilities
  • Emotional Regulation
  • Endophenotypes*
  • Female
  • Humans
  • Language Development Disorders
  • Latent Class Analysis
  • Male
  • Motor Skills Disorders
  • Parents / psychology*
  • Phenotype