Structural language deficits in a child with DiGeorge Syndrome: evidence from Greek.

Abstract

This study presents an investigation of language skills in a male child with DiGeorge syndrome (DGS), an autosomal dominant genetic disorder caused by a microdeletion on the long arm of chromosome 22. The syndrome is associated with an extensive and variable phenotype which includes mild differences in facial features, congenital heart disease, defects in the palate, recurrent ear infections, and learning problems as well as behavioural and social interaction difficulties. Delayed language onset and persistent language impairment in preschool ages have been described in the literature, though not much is known about language skills of DGS children across languages. The purpose of this study is to describe the language profile of a single child with DGS for Greek using case-based methodology, and to compare his performance on structured language tasks with those reported for preschool children with and without specific language impairment from our database on the same tools. The participant was born in Cyprus to Greek Cypriot parents. He was close to 6 years of age when testing began and enrolled in a normal mainstream preschool at the time of the study. He was receiving speech therapy on a weekly basis focused on his articulation and voice problems. He had fluent, overall intelligible speech and was social. There was no evidence of attention deficit/hyperactivity disorder on oneto-one testing. Non-verbal intelligence was measured with Raven’s Coloured Progressive Matrices, while global language scores for receptive and expressive language abilities were derived from the Diagnostic Verbal IQ Test prior to the testing on structured language tasks. Receptive vocabulary knowledge was assessed on the Peabody Picture Vocabulary Test, expressive vocabulary on the Expressive Vocabulary Test. Structural language testing involved clitic production and a narrative retell task. The findings will be discussed in relation to two hypotheses, namely either that the profile of language impairment in children with DGS may be distinctive to the syndrome or that there is the possibility of co-morbidity of specific language impairment in DGS.