PhD defence Emma Everaert: Can we use 22q11DS as a model for studying DLD?

On 26 April, Emma Everaert will defend her thesis ‘Language Impairment and Executive Functioning in Children: The 22q11.2 Deletion Syndrome as an Etiologically Homogeneous Model for Developmental Language Disorder’. She examines the question: can we use 22q11DS as a model for studying developmental language disorders?

Different speech-language problems

Children with 22q11.2 deletion syndrome (22q11DS) frequently have speech-language problems. The cause is a genetic disorder stemming from a missing piece of DNA on chromosome 22, which further leads to congenital heart defects, palate abnormalities, psychiatric problems, and difficulties with executive functions (EF), among others.

In contrast, the language problems of children with developmental language disorder (DLD) have no clear cause. As does the link between language problems and EF deficits, which children with DLD also experience.

A comparison between the groups

Because there are similarities in the problems experienced by children with 22q11DS and those with DLD, Everaert wondered: can 22q11DS be used as a model for studying the relationship between language and EF in children with DLD? With her research, she hoped to identify the causes of their language problems after all.

Everaert concludes that although the groups are indeed similar regarding language profile and EF deficits, it is not possible to use 22q11DS as a model for DLD without question. Nonetheless, a comparison between the groups is clinically relevant and provides interesting opportunities for further fundamental research.