Abstract
Language impairment is a core difficulty in fragile X syndrome (FXS), and yet standardized measures lack the sensitivity to assess developmental changes in the nature of these impairments. Expressive Language Sampling Narrative (ELS-N) has emerged as a promising new measure with research demonstrating its usefulness in a wide range of ages in developmental disabilities and typical development. We examined ELS-N results in FXS and age-matched typically developing (TD) controls along with cognitive, adaptive, and clinical measures. We found the groups differed significantly on all ELS-N variables. Cognitive abilities were related to lexical diversity, syntactic complexity, and unintelligibility for the FXS group, but only verbal abilities were related to syntactic complexity in TD. Autism spectrum disorder (ASD) symptomatology was related to less intelligibility in speech. Measures of hyperactivity were related to increased talkativeness and unintelligibility. In addition, FXS males in comparison to FXS females were more impaired in cognitive ability, ASD symptoms, hyperactivity, and anxiety. This study extends the previous ELS research, supporting its use in FXS research as a measure to characterize language abilities. It also demonstrates the relationships between ELS-N variables and measures of cognitive, adaptive, ASD symptoms, and clinical symptoms.
Highlights
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most commonly known single-gene cause of autism spectrum disorder
When clinical relationships were explored with the typically developing (TD) group, we found a relationship between increased verbal knowledge standard scores and greater lexical diversity and syntactic complexity
This study adds to the growing research evidence supporting the use of Expressive Language Sampling Narrative (ELS-N) as an outcome measure for individuals with fragile X syndrome (FXS)
Summary
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most commonly known single-gene cause of autism spectrum disorder. FXS results from a mutation on the FMR1 gene and an expansion of CGG repeats to 200 or more. This leads to a lack of production of FMRP, the gene’s protein. FMRP is important for learning and memory and its absence leads to the phenotypic characteristics of FXS, including language impairment. Brain Sci. 2020, 10, 66; doi:10.3390/brainsci10020066 www.mdpi.com/journal/brainsci. The majority of individuals with FXS have delayed language development, beginning at the prelinguistic period, the time before children say their first meaningful word, and continuing into childhood and adolescence [1].
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