Discourse Marker Use in Mothers of Autistic Individuals and FMR1 Premutation Carriers

The subtle pragmatic language differences that characterize the broad autism phenotype have also been observed among female FMR1 premutation carriers, suggesting a potential role of the FMR1 gene in autism-related pragmatic language differences. This study evaluated the use of discourse markers (language units that support conversational discourse) in a direct comparison of these groups to examine how this key pragmatic skill may be used differently and potentially contribute to pragmatic language profiles in each group.

Participants included 83 mothers of autistic individuals, 61 female FMR1 premutation carriers, and 41 female controls. Discourse marker use was evaluated in the context of a semi-structured conversation. Patterns were compared across groups and evaluated in relationship to global pragmatics and variability in the FMR1 gene across the CGG range.

Mothers of autistic individuals demonstrated clear differences in discourse marker patterns compared with FMR1 premutation carriers and controls. Relationships to pragmatics were observed in the use of backchannels only. Links to FMR1 were observed within the premutation CGG range.

Findings suggest that differences in discourse marker use could be an important component of the broader pragmatic differences noted in first degree relatives of autistic individuals, although evidence of a direct relationship with FMR1 was limited.