Pragmatic language skills in children with 22q11.2 deletion syndrome and Williams syndrome

Pragmatics, as a part of linguistic competence, can be defined as the ability of a person to use language across different social contexts. In the last two decades the study of the development and use of pragmatic language skills in children with intellectual disabilities has known a remarkable growth. Pragmatic abilities of this population are an interesting study area because of their connection to cognition, social skills, functional everyday communication and quality of life. Some genetic syndromes place children at risk to develop a pragmatic language impairment. This study focuses on two microdeletion syndromes: Williams syndrome (7q11.23) and 22q11.2 deletion syndrome (22q11.2 DS).

Although both syndromes show distinctive neuropsychological and behavioral profiles, both groups seem to have difficulties with certain receptive and expressive pragmatic language skills. Until present research on their pragmatic disabilities is rather fragmentary and mostly based on observations or anecdotal descriptions.

The first aim of this study is to delineate a broader pragmatic language profile by means of conversation analysis, narrative assessment and referential communication tasks.  Secondly we want to describe the relationship between language structure, language content and language use by comparing the pragmatic language results with standardized language measurements. We also connect the language profiles to cognitive profiles in the framework of the Cattell-Horn-Carroll model. We provide cross-sectional comparisons between the two syndromes, children with a mild to moderate intellectual disability (mixed etiology), children with a mild to moderate intellectual disability and comorbid autism spectrum disorder and a group of normal developing children. Finally a follow-up study will give us information on changes in the language and cognitive profiles through childhood . This allows us to give advice that better meets the needs of the child to parents, caregivers, teachers and speech and language pathologist at any moment in the development.