Extending the communication phenotype associatedwith 22q11.2 Microdeletion Syndrome

Abstract

This paper has three aims. The first is to describe and critically evaluate two recent studies from the authors' centre. Study one is a retrospective, consecutive series case note audit of 76 children aged 3.01 – 9.11 years of age, aimed at examining the age at which children with 22q11 deletion syndrome (22q11DS) are able to achieve oral pressure in their speech, and providing an overview of presentation. Study two is a pilot study to investigate the prevalence of dyspraxic features in a consecutive series of 21 school age children with 22q11DS, aged 4.0 – 8.11 years of age. The second aim is to discuss these studies within the context of a critical review of the current knowledge about 22q11 deletion syndrome. The third aim is to challenge some common thinking around the management of velopharyngeal dysfunction ( VPD) in 22q11DS. This discussion highlights that it is sometimes possible to investigate and treat palate function with good outcomes in the preschool years based on limited speech and language and investigations. Areas for future research are discussed. This paper further underlines the complexity of the communication profile in this population, with confirmation of the unique speech and language phenotype.

Keywords:

• 22q11 deletion syndrome
• speech
• language
• velopharyngeal dysfunction
• management
• communication phenotype