22q13 deletion syndrome: A report of the language function in two cases

Subtelomeric chromosomal deletions are an important cause of mental retardation and other developmental delays. Deletion of the terminal region of the long arm of chromosome 22 has been recently recognized and is characterized by developmental delays, hypotonia, and language abnormalities. Unlike many other previously recognized chromosomal syndromes, there are not striking physical abnormalities. Although descriptions of children with this deletion have pointed out the decrease in expression, the features of their language has not been well characterized. We report on two children with 22q terminal deletions and discuss their language evaluations at presentation and development and progress of one of the children after several years of therapy. The communication profile appears to be characteristic, demonstrating severe to profound impairment of expressive language, mild-moderate impairment of receptive language, and mild-moderate difficulties with oral motor skills.