Introduction

Crosslinguistic research describing the language and cognitive abilities of children with rare syndromes is sparse. The aim of the present case study is to report on the language abilities of a school-aged boy genetically confirmed with 22q11.2 deletion syndrome (22q11.2DS). This syndrome follows an autosomal dominant inheritance pattern; a child only needs to get the abnormal gene from one parent in order to inherit the disease. However, only around 10% of all cases of 22q11.2DS are inherited, while the majority of occurrences are due to a random mutation (Shprintzen, 2008). Our participant falls into the latter category.

22q11.2DS results from a submicroscopic hemizygous deletion: one of the two copies of chromosome 22 is missing at position 11 (Woodin et al., 2001). Historically, it has also been known by many other names, including DiGeorge syndrome, Shprintzen syndrome and velocardiofacial syndrome. Now that researchers have found the unifying genetic cause of these conditions, the term 22q11.2 deletion syndrome is preferred (http://www.22q.org/awareness-events/awareness/same-name-campaign). It is an increasingly common genetic disorder affecting at least 1 in 2000–7000 live births (Shprintzen, 2008). The phenotypic description is quite varied, with close to 200 clinical features identified so far as relating to abnormalities of the heart, palate, velopharyngeal mechanism, immune system, central nervous system and brain morphology (see Woodin et al., 2001 and references within). However, each child is affected differently and the symptoms can vary widely, ranging from less severe to severely affected. Children with 22q11.2DS tend to have similar facial features, including a long, narrow face, wide-set almond-shaped eyes, a broad nasal bridge and bulbous nose tip, a small mouth, small, low-set ears that are folded over at the top, and an irregular skull shape (see an older description from www.nhs.uk/conditions/digeorge-syndrome). Furthermore, there is evidence that 22q11.2DS remains undiagnosed in many children as an isolated speech and language disorder or a developmental delay in the presence of few or no physical abnormalities (Niklasson et al., 2001).