Language development in individuals with fragile X syndrome

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability. The syndrome is caused by a single gene mutation on the X chromosome. Although individual differences are large, most individuals with FXS display weaknesses across all language and literacy domains compared with peers of the same chronological age with typical cognitive and language development. Expressive, receptive, and pragmatic language abilities as well as literacy skills are similar to those of younger, typically developing peers at similar cognitive and language developmental levels, although there are areas in which impairments exceed developmental-level expectations. One area of special impairment is the higher occurrence of repetition in the language of individuals with FXS compared with developmentally matched peers. In this article, we review the behavioral, language, and literacy profiles of individuals with FXS and discuss potential clinical implications.