A Comparison of Pragmatic Language in Boys With Autism and Fragile X Syndrome

Abstract

Purpose Impaired pragmatic language (i.e., language use for social interaction) is a hallmark feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most common known monogenic disorder associated with ASD. However, few cross-population comparisons of ASD and FXS have been conducted, and it is unclear whether pragmatic language profiles in these conditions overlap. Method This study used semi-naturalistic and standardized assessment methods to characterize pragmatic language abilities of 29 school-aged boys with idiopathic ASD, 38 with FXS and comorbid ASD, 16 with FXS without ASD, 20 with Down syndrome and 20 with typical development. Results Similar severity of pragmatic language deficits was observed in both of the groups with ASD (idiopathic and fragile X-associated). ASD comorbidity had a detrimental effect on the pragmatic language skills of boys with FXS. Some different patterns emerged across the two pragmatic assessment tools, with more robust group differences observed in pragmatics assessed in a semi-naturalistic conversational context. Conclusions These findings have implications for pragmatic language assessment and intervention, as well as for understanding the potential role of the fragile X gene, Fragile X Mental Retardation-1, in the pragmatic language phenotype of ASD.

A Multi-Method Investigation of Pragmatic Development in Individuals With Down Syndrome

“…However, differences were less striking on direct assessments of pragmatic language in boys with DS. This contrasts with findings from a prior cross-sectional study showing significant differences between boys with DS and TD (Klusek et al, 2014), who used similar pragmatic assessment methods with a partially overlapping but higher functioning sample than studied here. Whereas the Klusek et al sample included a cross-sectional group of boys with DS selected to optimize matching with TD controls, with mean receptive vocabulary age equivalent of 5.93 and expressive vocabulary age equivalent of 5.89, the present longitudinal study included children’s data from Visit 1, when they exhibited less developed language (mean expressive vocabulary age equivalence = 5.33 and mean receptive vocabulary age equivalence = 5.15).…”

“…Prior work has noted several relative strengths in the pragmatic language profile of DS, and individuals with DS appear to exhibit fewer pragmatic language violations relative to other developmental disorders characterized by pragmatic impairment [e.g., autism spectrum disorder (ASD) and fragile X syndrome (FXS) with comorbid ASD (Abbeduto & Chapman, 2005; Klusek, Losh, & Martin, 2014; Martin, G. E., Losh, Estigarribia, Sideris, & Roberts, 2013; Roberts et al, 2007)]. Compared to younger typically developing (TD) controls, similar rates of parent-reported social relationships and attempts to repair conversational breakdown have been observed (Laws & Bishop, 2004; Johnston & Stanfield, 1997).…”

Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder

“…For example, similar weaknesses in pragmatic language, including odd/limited gesture use, difficulties following the rules governing reciprocal communication, atypical rate/intonation, and atypical gaze and facial expressions are seen in boys with FXS+ASD and boys with ASD (e.g., Klusek et al 2014; McDuffie et al 2015). In terms of neurobiology, abnormalities in the GABAergic signaling system have been implicated in both FXS and ASD (Coghlan et al 2012).…”

Examining the Language Phenotype in Children With Typical Development, Specific Language Impairment, and Fragile X Syndrome

“…Roberts et al, 2004, for a similar hypothesis for ASD). The pragmatic deficits in FXS (Klusek, Martin, & Losh, 2014) may have hindered their ability to flexibly adapt to the linguistic contexts unique to each subtest on the TEGI and, as a result, to produce more tangential responses. The boys with FXS produced a significant percentage of unscorable responses for do items in the be/do probe.…”