Social communication and theory of mind in boys withautism and fragile X syndrome

Molly Losh*, Gary E. Martin, Jessica Klusek, Abigail L. Hogan-Brown, John Sideris

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

75 Scopus citations


Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome (FXS), a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to the Fragile X Mental Retardation-1 gene (FMR1) in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on directassessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (Cytosine-Guanine-Guanine repeats and percent methylation). These results point toward substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles.

Original languageEnglish (US)
Article numberArticle 266
JournalFrontiers in Psychology
Issue numberAUG
StatePublished - 2012


  • Autism
  • Fragile X syndrome
  • Pragmatic language
  • Social communication
  • Theory of mind

ASJC Scopus subject areas

  • General Psychology


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